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COSMIC Available
c.1A>G
p.Met1Val
Variant Significance: Reported Pathogenic Type: Deletion-Met1-change Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.89 (predicted pathogenic) PolyPhen-2: 0.38
Curator Note: Severe growth phenotype
c.3G>A
p.Met1Ile
Variant Significance: Reported Pathogenic Type: Deletion-Met1-change Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 0.38
Curator Note: Severe growth phenotype
c.29G>A
p.Trp10*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 1 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.43C>A
p.Leu15Met
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.75 (predicted pathogenic) PolyPhen-2: 0.19 (predicted benign)
Curator Note: Attenuated growth phenotype,Unpublished
c.47T>A
p.Val16Glu
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.70 (predicted pathogenic)
Curator Note:
c.67G>C
p.Gly23Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 1 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.72 (predicted pathogenic) PolyPhen-2: 0.09 (predicted benign)
Curator Note: Attenuated growth phenotype
c.79G>A
p.Ala27Thr
Variant Significance: VOUS Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.24 (predicted non-pathogenic) PolyPhen-2: 0.00 (predicted benign)
Curator Note: Exome Genotyping Chip Design, Not listed as germline (dbSNP)
c.94A>G
p.Asn32Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note:
c.106_111del6
p.Leu36_Leu37del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 1 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: p.Met318Arg/p.Leu36_Leu37del Severe
c.107T>C
p.Leu36Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 0.88 (predicted possibly damaging)
Curator Note: Attenuated growth phenotype,Unpublished
c.107T>G
p.Leu36Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic)
Curator Note:
c.118G>A
p.Asp40Asn
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic)
Curator Note:
c.120_121ins158
p.Asp40fs*20
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 1 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.120+1G>A
Variant Significance: Reported Pathogenic Type: Unknown Region: Intron 1,Splice site References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: c.120+1G>A/c.120+1G>A Chest deformity, Corneal clouding - Splicing mutation, frameshift introduced premature stop codon
c.121-1G>A
p.Met41Argfs*46
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 1,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.121A>T
p.Met41Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.121-2A>G
p.Met41Argfs*46
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 1,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.121-1G>C
p.Met41Argfs*46
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 1,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.121-2779_567-248
Variant Significance: Reported Pathogenic Type: Deletion Region: Exons 2_5,Exons 11_12 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, Double gene deletion; Full cDNA mutation is c.121-2779_567-248;c.1140-730_1365-1530
c.121-?_244+?del
p.Met41_Pro81delinsArgfs*47
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 1,Exon 2,Intron 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.122T>A
p.Met41Lys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic)
Curator Note: Severe growth phenotype
c.125G>A
p.Gly42Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype,Unpublished
c.139G>A
p.Gly47Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.143T>C
p.Val48Ala
Variant Significance: VOUS Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.79 (predicted pathogenic) PolyPhen-2: 0.10
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.143T>G
p.Val48Gly
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic)
Curator Note:
c.151G>A
p.Glu51Lys
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.59 (predicted pathogenic)
Curator Note:
c.154_165del12
p.Pro52_Glu55del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.158C>T
p.Ser53Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.96 (predicted probably damaging)
Curator Note: Unpublished
c.170C>T
p.Pro57Leu
Variant Significance: VOUS Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.92 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.178G>A
p.Asp60Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.180C>A
p.Asp60Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.181C>T
p.Arg61Trp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.87 (predicted possibly damaging)
Curator Note: Attenuated growth phenotype
c.196G>C
p.Gly66Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.96 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: Severe growth penotype, article appears to have G>A incorrectly in table 2 but G>C correctly in text
c.199C>A
p.Leu67Met
Variant Significance: Benign Variant Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.28 (predicted non-pathogenic) PolyPhen-2: 0.00 (predicted benign)
Curator Note:
c.205T>G
p.Phe69Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.92 (predicted pathogenic) PolyPhen-2: 0.76 (predicted possibly damaging)
Curator Note: Severe growth phenotype, Current referenced dbSNP has it as 205 but referenced Tomatsu 2004e article has it at 206. 205 appears accurate.
c.209_220del
p.Asn71_Ser74delinsThr
Variant Significance: Reported Pathogenic Type: Indel-in-frame Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.216C>T
p.(=) Phe72
Variant Significance: Benign Variant Type: Silent Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.218A>G
p.Tyr73Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: Growth retardation, additional clinical characteristics
c.221C>T
p.Ser74Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 0.98
Curator Note: p.Ser74Phe/c.423_566del Skeletal dysplasia
c.224C>G
p.Ala75Gly
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.68 (predicted pathogenic)
Curator Note: Severe growth phenotype
c.229C>G
p.Pro77Ala
Variant Significance: VOUS Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.230C>G
p.Pro77Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.93 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.235_236delTG
p.Cys79Leufs*78
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.236G>A
p.Cys79Tyr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.238T>A
p.Ser80Thr
Variant Significance: VOUS Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 0.91 (predicted possibly damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.239C>T
p.Ser80Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.242C>T
p.Pro81Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic)
Curator Note:
c.244+275_APRT:188-184
Variant Significance: Reported Pathogenic Type: Deletion Region: Exons 3_14 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, Large deletions fusing two genes
c.244T>C
p.Ser82Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 2 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic)
Curator Note: Attenuated growth phenotype
c.245-11C>G
See Curator Note
Variant Significance: Reported Pathogenic Type: Unknown Region: Intron Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: r.[=; 244_245ins245-1_245-10; 245_319delins245-1_245-10]
c.245C>T
p.Ser82Leu
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.89 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: p.Ala291Thr/p.Ser82Leu Severe, dbSNP-NHLBI Exome Sequencing Project
c.251C>A
p.Ala84Glu
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.93 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.251C>T
p.Ala84Val
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.253G>A
p.Ala85Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic)
Curator Note:
c.257T>C
p.Leu86Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.72 (predicted pathogenic)
Curator Note: Severe growth phenotype
c.263C>T
p.Thr88Ile
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.268C>T
p.Arg90Trp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.272T>C
p.Leu91Pro
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.72 (predicted pathogenic)
Curator Note:
c.278T>A
p.Ile93Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic)
Curator Note: Severe growth phenotype
c.280C>G
p.Arg94Gly
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.95 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.280C>T
p.Arg94Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.281G>T
p.Arg94Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype,Unpublished
c.286G>T
p.Gly96Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.287G>T
p.Gly96Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.95 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.289T>G
p.Phe97Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.304G>A
p.Ala102Thr
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.40 (predicted non-pathogenic) PolyPhen-2: 0.81 (predicted possibly damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.310G>T
p.Ala104Ser
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.55 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.318C>T
p.(=) Asn106
Variant Significance: Benign Variant Type: Silent Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.319G>A
p.Ala107Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 3 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.76 (predicted pathogenic) PolyPhen-2: 0.95 (predicted probably damaging)
Curator Note: p.Ala107Thr/ND Severe Wang 2010
c.319G>T
p.Ala107Ser
Variant Significance: VOUS Type: Missense Region: Exon 3 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.58 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.320-1G>T
p.Ala107Glyfs*54
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 3,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Attenuated growth phenotype
c.321C>T
p.(=) Ala107
Variant Significance: Benign Variant Type: Silent Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Dieter et al. [2007],Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutationsin Brazilian patients with mucopolysaccharido...
c.324C>T
p.(=) Tyr108
Variant Significance: Benign Variant Type: Silent Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Dieter et al. [2007],Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharid...
c.325A>G
p.Thr109Ala
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.48 (predicted non-pathogenic) PolyPhen-2: 1.00
Curator Note: dbSNP-1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline
c.329C>T
p.Pro110Leu
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.58 (predicted pathogenic)
Curator Note: Cosmic-Somatic
c.331C>T
p.Gln111*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.332A>G
p.Gln111Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.76 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.334delG
p.Glu112Argfs*44
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.337A>T
p.Ile113Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.94 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.346G>A
p.Gly116Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.347G>T
p.Gly116Val
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic)
Curator Note:
c.359C>T
p.Ser120Leu
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.55 (predicted pathogenic) PolyPhen-2: 0.32 (predicted benign)
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.363G>C
p.Glu121Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.75 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: p.Glu121Asp /p.Glu121Asp Skeletal dysplasia
c.373C>T
p.Pro125Ser
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: dbSNP-NHLBI Exome Sequencing Project, Not listed as germline
c.374C>T
p.Pro125Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.92 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.376G>T
p.Glu126*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.385A>T
p.Lys129*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: c.385A>T/c.899-1G>C Chest deformity, Corneal clouding
c.405C>G
p.Ser135Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 0.53 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.405_422+1del
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 4, Intron 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.408G>T
p.Lys136Asn
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.63 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Cosmic-Not confirmed as somatic
c.409_420del12
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.412G>A
p.Val138Ile
Variant Significance: VOUS Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.61 (predicted pathogenic) PolyPhen-2: 0.27
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.413T>C
p.Val138Ala
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.88 (predicted possibly damaging)
Curator Note: Attenuated growth phenotype
c.415G>A
p.Gly139Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.93 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.421T>A
p.Trp141Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.96 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.422G>A
p.Trp141*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.422+2_422+3insT
p.Trp141fs*41
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 4 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.422+2_422+8del
p.Trp141Cysfs*29
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 4,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.422+1G>A
p.Trp141*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Intron 4,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.423G>T
p.Trp141Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.423_566del
p.Trp141*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Exon 5 skipping
c.423-1G>A
p.Trp141*
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 4,Splice site References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.424C>A
p.His142Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.425A>T
p.His142Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.425A>G
p.His142Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.426T>A
p.His142Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.433C>T
p.His145Tyr
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.56 (predicted pathogenic)
Curator Note:
c.442C>T
p.Gln148*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.448C>T
p.His150Tyr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.73 (predicted pathogenic) PolyPhen-2: 0.92 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.451C>A
p.Pro151Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.81 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: Growth retardation, additional clinical characteristics
c.451C>T
p.Pro151Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.89 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.452C>T
p.Pro151Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.463G>A
p.Gly155Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.464G>A
p.Gly155Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.466T>C
p.Phe156Leu
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic)
Curator Note:
c.467T>C
p.Phe156Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.95 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.467T>G
p.Phe156Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.96 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.477G>A
p.Trp159*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.477G>T
p.Trp159Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic)
Curator Note:
c.482G>A
p.Gly161Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.82 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.485C>T
p.Ser162Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.82 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.487C>A
p.Pro163Thr
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.60 (predicted pathogenic) PolyPhen-2: 0.99
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.488C>A
p.Pro163His
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.60 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.488C>T
p.Pro163Leu
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.68 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.489delC
p.Pro163fs*35
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.491A>C
p.Asn164Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note:
c.494G>A
p.Cys165Tyr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.60 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: p.Cys165Tyr/p.Cys165Tyr Severe, Kubaski 2013 incorrectly has this as c.492G>A, corrected in Morrone 2014 to c.494G>A
c.497A>G
p.His166Arg
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic)
Curator Note:
c.498delC
p.His166fs*32
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype,Unpublished
c.498C>G
p.His166Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.499T>G
p.Phe167Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic) PolyPhen-2: 0.53 (predicted possibly damaging)
Curator Note: Attenuated growth phenotype, Unpublished
c.501_502insT
p.Phe167fs*4
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.502G>A
p.Gly168Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.502_503delGGinsTT
p.Gly168Leu
Variant Significance: Reported Pathogenic Type: Indel-in-frame Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: p.Gly168Leu/r.423_566del Severe
c.510T>C
p.(=) Tyr170
Variant Significance: Benign Variant Type: Silent Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.512A>C
p.Asp171Ala
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.515A>G
p.Asn172Ser
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.46 (predicted non-pathogenic) PolyPhen-2: 0.24
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.516C>G
p.Asn172Lys
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.55 (predicted pathogenic) PolyPhen-2: 0.96 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.530A>G
p.Asn177Ser
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.48 (predicted non-pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: p.Arg386Cys/p.Asn177Ser Skeletal deformity, Joint laxity
c.532A>G
p.Ile178Val
Variant Significance: Benign Variant Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.24 (predicted non-pathogenic) PolyPhen-2: 0.78 (predicted possibly damaging)
Curator Note:
c.532_533delAT
p.Ile178Profs*13
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.535C>T
p.Pro179Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.90 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.536C>T
p.Pro179Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.536C>A
p.Pro179His
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.550T>C
p.Trp184Arg
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.59 (predicted pathogenic) PolyPhen-2: 0.43
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.554A>G
p.Glu185Gly
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.79 (predicted pathogenic) PolyPhen-2: 0.53 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.559G>C
p.Val187Leu
Variant Significance: VOUS Type: Missense Region: Exon 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.53 (predicted pathogenic) PolyPhen-2: 0.05 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.566+?_1003-?dup
Variant Significance: Reported Pathogenic Type: Deletion, Duplication Region: Exon, Intron Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Full mutation: c.[566+?_1003-?dup; 1139+?_1140-?del], Severe growth phenotype, Morrone 2014
c.567-131ins42
Variant Significance: Reported Pathogenic Type: NA Region: Intron 5 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Unpublished
c.567-1G>T
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 5,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.581T>G
p.Phe194Cys
Variant Significance: VOUS Type: Missense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.58 (predicted pathogenic)
Curator Note: Cosmic-Not confirmed as somatic
c.599C>T
p.Thr200Met
Variant Significance: Benign Variant Type: Missense Region: Exon 6 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.23 (predicted non-pathogenic) PolyPhen-2: 0.24 (predicted benign)
Curator Note:
c.602G>A
p.Gly201Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.45 (predicted non-pathogenic)
Curator Note:
c.600delG
p.Glu202Lysfs*115
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 6 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, Tomatsu
c.608C>T
p.Ala203Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.76 (predicted pathogenic) PolyPhen-2: 0.24 (predicted benign)
Curator Note: Unpublished
c.612C>G
p.Asn204Lys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 0.28 (predicted benign)
Curator Note: Attenuated growth phenotype
c.627C>G
p.Tyr209*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.631C>T
p.Gln211*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.634-1G>A
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 6,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.634-1G>T
p.Glu212Valfs*9
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 6 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Undefined growth phenotype
c.641T>C
p.Leu214Pro
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.74 (predicted pathogenic)
Curator Note:
c.647T>C
p.Phe216Ser
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.71 (predicted pathogenic)
Curator Note:
c.664C>T
p.Arg222Trp
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.60 (predicted pathogenic) PolyPhen-2: 0.99
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.665G>A
p.Arg222Gln
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.52 (predicted pathogenic) PolyPhen-2: 0.01
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.685T>C
p.Tyr229His
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.71 (predicted pathogenic) PolyPhen-2: 0.94 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.688T>G
p.Trp230Gly
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.90 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.689G>A
p.Trp230*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, OMIM (dbSNP)
c.692C>G
p.Ala231Gly
Variant Significance: Benign Variant Type: Missense Region: Exon 7 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.29 (predicted non-pathogenic) PolyPhen-2: 0.40 (predicted benign)
Curator Note:
c.697G>A
p.Asp233Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 0.83 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.700G>A
p.Ala234Thr
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.70 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.704C>T
p.Thr235Met
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.66 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.704C>A
p.Thr235Lys
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic)
Curator Note:
c.706C>G
p.His236Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: p.His236Asp/p.His236Asp Severe
c.708delC
p.His236Argfs*25
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, was c.708delT in older sequence used in original reference article
c.715G>T
p.Val239Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.81 (predicted possibly damaging)
Curator Note: Severe growth phenotype,Unpublished
c.715G>A
p.Val239Ile
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.73 (predicted pathogenic) PolyPhen-2: 0.05 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.719A>G
p.Tyr240Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.74 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.725C>G
p.Ser242Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.64 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: Growth retardation, additional clinical characteristics
c.734T>C
p.Phe245Ser
Variant Significance: VOUS Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.65 (predicted pathogenic) PolyPhen-2: 0.21 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.740G>A
p.Gly247Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.37 (predicted benign)
Curator Note: Severe growth phenotype
c.751C>T
p.Arg251*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.752G>A
p.Arg251Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic) PolyPhen-2: 0.99
Curator Note: Growth retardation, additional clinical characteristics
c.757C>T
p.Arg253Trp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.79 (predicted pathogenic) PolyPhen-2: 0.96 (predicted probably damaging)
Curator Note: Attenuated growth phenotype,Unpublished
c.758+1G>C
p.Arg253fs*1
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Intron 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.758G>A
p.Arg253Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.53 (predicted pathogenic)
Curator Note: Attenuated growth phenotype
c.758+4A>T
Variant Significance: Likely Pathogenic Type: Intronic Region: Intron 7 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.761A>G
p.Tyr254Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: p.Tyr254Cys/p.Tyr254Cys Skeletal dysplasia, additional clinical signs
c.769G>A
p.Ala257Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.90 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note:
c.772G>A
p.Val258Ile
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.63 (predicted pathogenic) PolyPhen-2: 0.39 (predicted benign)
Curator Note: Cosmic-Somatic
c.776G>A
p.Arg259Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 0.73 (predicted possibly damaging)
Curator Note: Attenuated growth phenotype
c.778G>A
p.Glu260Lys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: p.Glu260Lys/p.Arg386Cys Skeletal abnormalities and additional clinical signs
c.780G>C
p.Glu260Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Unpublished
c.791G>C
p.Ser264Thr
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.51 (predicted pathogenic)
Curator Note:
c.794T>C
p.Ile265Thr
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 0.24 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.800A>G
p.Lys267Arg
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.52 (predicted pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note: Cosmic-Not confirmed as somatic
c.824T>C
p.Leu275Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.832G>A
p.Ala278Thr
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.50 (predicted pathogenic) PolyPhen-2: 0.03 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.833C>T
p.Ala278Val
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.49 (predicted non-pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note:
c.833_859del27
p.Ala278_Ser287del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 8 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.841_867del27
p.Thr281_Asn289del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.846C>T
p.(=) Phe282
Variant Significance: Benign Variant Type: Silent Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.850T>G
p.Phe284Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 0.16 (predicted benign)
Curator Note: Attenuated growth phenotype
c.853_855delTTC
p.Phe285del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.857C>T
p.Thr286Met
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.76 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.860C>T
p.Ser287Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.865A>G
p.Asn289Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic)
Curator Note:
c.866A>G
p.Asn289Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: p.Asn289Ser/p.Asn289Ser Attenuated
c.868G>A
p.Gly290Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.98 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.868G>C
p.Gly290Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Not Curated Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.97 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.871G>A
p.Ala291Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.872C>A
p.Ala291Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.874delG
p.Ala292Profs*26
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.884C>T
p.Ser295Phe
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 8 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.78 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.887C>T
p.Ala296Val
Variant Significance: VOUS Type: Missense Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.54 (predicted pathogenic) PolyPhen-2: 0.13
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.888del27
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 8 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.898+1G>C
p.Gly300Alafs*34
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Intron 8,Splice site References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Attenuated growth phenotype
c.898+1G>A
p.Gly300Aspfs*34
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Intron 8,Splice site References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.899-623_PIEZO1:c.64-14473
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: c.899-623_PIEZO1:c.64-14473
c.899-1G>C
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 8,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: c.385A>T/c.899-1G>C Chest deformity, Corneal clouding - Splicing mutation, frameshift introduced premature stop codon
c.899-2A>G
p.Gly300fs*29
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 8,Splice site References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.901G>T
p.Gly301Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.911G>A
p.Gly304Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.916T>A
p.Phe306Ile
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.73 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.917T>C
p.Phe306Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: ND/p.Phe306Ser Skeletal deformity, Joint laxity
c.920T>C
p.Leu307Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.922T>C
p.Cys308Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic)
Curator Note: Attenuated growth phenotype
c.925G>A
p.Gly309Arg
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.930G>C
p.Lys310Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.94 (predicted probably damaging)
Curator Note: Attenuated growth phenotype,Unpublished
c.934A>G
p.Thr312Ala
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.74 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: p.Thr312Ala/p.Gly290Ser Severe
c.935C>G
p.Thr312Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.83 (predicted pathogenic) PolyPhen-2: 0.44 (predicted benign)
Curator Note: Attenuated growth phenotype
c.937A>G
p.Thr313Ala
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.60 (predicted pathogenic)
Curator Note: Co-identified in cis with c.977G>C
c.938C>T
p.Thr313Met
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.71 (predicted pathogenic)
Curator Note: Severe growth phenotype
c.943G>A
p.Glu315Lys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.93 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note:
c.947G>T
p.Gly316Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.95 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.949G>A
p.Gly317Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.95 (predicted pathogenic)
Curator Note:
c.950G>A
p.Gly317Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.951dupG
Variant Significance: Reported Pathogenic Type: Duplication Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.953T>G
p.Met318Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.83 (predicted possibly damaging)
Curator Note:
c.956G>A
p.Arg319Lys
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.90 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.969C>T
p.(=) Leu323
Variant Significance: Benign Variant Type: Silent Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.971C>A
p.Ala324Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.84 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: p.Ala324Glu/ND Mild growth phenotype
c.974G>A
p.Trp325*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: p.Trp325*/p.Trp325* Severe growth phenotype
c.975G>T
p.Trp325Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Unpublished
c.976_978delTGG
p.Trp326del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.977G>C
p.Trp326Ser
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic)
Curator Note: Co-identified in cis with c.937A>G.
c.978G>A
p.Trp326*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.994G>A
p.Ala332Thr
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.70 (predicted pathogenic) PolyPhen-2: 0.86 (predicted possibly damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1000C>T
p.Gln334*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Growth retardation, additional clinical characteristics
c.1001A>G
p.Gln334Arg
Variant Significance: VOUS Type: Missense Region: Exon 9 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.56 (predicted pathogenic) PolyPhen-2: 0.01
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1003-805_PIEZO1:c.64-5664
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: c.1003-805_PIEZO1:c.64-5664
c.1003-2A>C
Variant Significance: Reported Pathogenic Type: Splice site Region: Intron 9, Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1012C>T
p.Gln338*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1019G>A
p.Gly340Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.81 (predicted pathogenic) PolyPhen-2: 0.83 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.1023C>G
p.Ser341Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.93 (predicted pathogenic) PolyPhen-2: 0.72 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.1028T>G
p.Met343Arg
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.81 (predicted pathogenic) PolyPhen-2: 0.85 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.1030G>A
p.Asp344Asn
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.99 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.1032C>G
p.Asp344Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.98 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.1034T>C
p.Leu345Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.98 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.1038C>A
p.Phe346Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.77 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.1043C>A
p.Thr348Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1043C>T
p.Thr348Ile
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Saw Swee Hock School of Public Health, Not listed as germline (dbSNP)
c.1046delG
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1052C>T
p.Ala351Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.85 (predicted pathogenic) PolyPhen-2: 0.03 (predicted benign)
Curator Note: Severe growth phenotype
c.1055T>C
p.Leu352Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.1058C>A
p.Ala353Glu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1067C>T
p.Thr356Met
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.41 (predicted non-pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Cosmic-Somatic
c.1070C>T
p.Pro357Leu
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.77 (predicted pathogenic) PolyPhen-2: 0.03 (predicted benign)
Curator Note: Severe growth phenotype
c.1070delC
p.Pro357Argfs*21
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1071G>A
p.(=) Pro357
Variant Significance: Benign Variant Type: Silent Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Dieter et al. [2007],Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharid...
c.1078G>A
p.Asp360Asn
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.53 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: dbSNP-NHLBI Exome Sequencing Project, Not listed as germline
c.1081A>G
p.Arg361Gly
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 0.95 (predicted probably damaging)
Curator Note: cDNA mutation change calculated from protein change in SwissProt
c.1088T>C
p.Ile363Thr
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.79 (predicted pathogenic) PolyPhen-2: 0.99
Curator Note: 1000 Genomes Project Data coordinated by EBI and NCBI, Not listed as germline (dbSNP)
c.1097T>C
p.Leu366Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.71 (predicted pathogenic) PolyPhen-2: 0.95 (predicted possibly damaging)
Curator Note:
c.1100A>G
p.Asn367Ser
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.82 (predicted pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1105C>T
p.Leu369Phe
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.69 (predicted pathogenic) PolyPhen-2: 0.98 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1106T>C
p.Leu369Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.94 (predicted pathogenic) PolyPhen-2: 0.88 (predicted possibly damaging)
Curator Note: Severe growth phenotype,Unpublished
c.1114delC
p.Leu372Serfs*6
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Radidly progressing growth phenotype
c.1120C>T
p.Gln374*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1127G>A
p.Arg376Gln
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.72 (predicted pathogenic) PolyPhen-2: 0.00 (predicted benign)
Curator Note: Severe growth phenotype
c.1134G>A
p.Met378Ile
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.49 (predicted non-pathogenic)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1135G>A
p.Asp379Asn
Variant Significance: VOUS Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.42 (predicted non-pathogenic) PolyPhen-2: 0.01
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1138A>G
p.Arg380Gly
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic)
Curator Note: Rapidly progressing growth phenotype, Morrone 2014
c.1139G>C
p.Arg380Thr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.90 (predicted pathogenic) PolyPhen-2: 0.90 (predicted possibly damaging)
Curator Note: Severe growth phenotype,Unpublished
c.1139+?_1140-?del
Variant Significance: Reported Pathogenic Type: Deletion, Duplication Region: Exon 6,7,8,9, Intron 10 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype, c.[566+?_1003-?dup; 1139+?_1140-?del], Morrone 2014
c.1140G>C
p.Arg380Ser
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: NHGRI/NIH,Mullikin Lab,Not listed as germline (dbSNP)
c.1140G>T
p.Arg380Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: Attenuated growth phenotype
c.1142delC
p.Pro381Leufs*9
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Frameshift. Truncated by 25
c.1144A>G
p.Ile382Val
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.56 (predicted pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1155C>A
p.Tyr385*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1156C>T
p.Arg386Cys
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.1157G>A
p.Arg386His
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note: Severe growth phenotype
c.1162G>C
p.Asp388His
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.82 (predicted pathogenic) PolyPhen-2: 0.26 (predicted benign)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1162G>A
p.Asp388Asn
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.88 (predicted pathogenic) PolyPhen-2: 0.00 (predicted benign)
Curator Note: Attenuated growth phenotype
c.1168delC
p.Leu390*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1169T>C
p.Leu390Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.84 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note:
c.1171A>G
p.Met391Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.86 (predicted pathogenic) PolyPhen-2: 0.17 (predicted benign)
Curator Note: Attenuated growth phenotype
c.1175C>T
p.Ala392Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.1176G>T
p.(=) Ala392
Variant Significance: Benign Variant Type: Silent Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Unpublished, (p.A392A calc by Robert Atwood)
c.1176_1178del3
p.Ala392del
Variant Significance: Reported Pathogenic Type: Deletion-in-frame Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Protein change calculated from cDNA change
c.1177G>T
p.Ala393Ser
Variant Significance: Benign Variant Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.32 (predicted non-pathogenic) PolyPhen-2: 0.02 (predicted benign)
Curator Note:
c.1177_1178insT
p.Ala393Cysfs*23
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1180A>C
p.Thr394Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.95
Curator Note: p.Thr394Pro/Gly301Cys Bone dysostosis and additional clinical signs
c.1183C>G
p.Leu395Val
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.81 (predicted pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note: Severe growth phenotype
c.1184T>C
p.Leu395Pro
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.87 (predicted pathogenic) PolyPhen-2: 0.08 (predicted benign)
Curator Note:
c.1186G>A
p.Gly396Arg
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.63 (predicted pathogenic) PolyPhen-2: 0.99 (predicted probably damaging)
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1188delG
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1192C>G
p.His398Asp
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.91 (predicted pathogenic) PolyPhen-2: 0.01 (predicted benign)
Curator Note: Attenuated growth phenotype
c.1195delA
p.Lys399fs*41
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1198G>A
p.Ala400Thr
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.64 (predicted pathogenic) PolyPhen-2: 0.97 (predicted probably damaging)
Curator Note: Laboratory of Molecular Medicine, Tokyo, Yusuke NAKAMURA, Not listed as germline (dbSNP)
c.1201C>T
p.His401Tyr
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.84 (predicted pathogenic) PolyPhen-2: 0.95 (predicted probably damaging)
Curator Note: Unpublished
c.1209_1210delGAinsTT
p.Trp403_Thr404delinsCysSer
Variant Significance: Reported Pathogenic Type: Indel-in-frame Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: p.Arg386Cys/ p.Trp403_Thr404delinsCysSer Skeletal deformity He [2013], Written in Ye article as W403C/T404S
c.1214G>A
p.Trp405*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Not Curated Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1215G>A
p.Trp405*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1217C>T
p.Thr406Ile
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.59 (predicted pathogenic) PolyPhen-2: 1.00
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1219A>C
p.Asn407His
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.80 (predicted pathogenic) PolyPhen-2: 0.91 (predicted possibly damaging)
Curator Note: Severe growth phenotype
c.1226G>C
p.Trp409Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Exon 11 References|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.89 (predicted pathogenic) PolyPhen-2: 0.26 (predicted benign)
Curator Note: Attenuated growth phenotype
c.1238G>A
p.Arg413Lys
Variant Significance: VOUS Type: Missense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.56 (predicted pathogenic) PolyPhen-2: 0.00 (predicted benign)
Curator Note: Dept. of Genetics, Stellenbosch University, Warnich Lab, Not listed as germline (dbSNP)
c.1240C>T
p.Gln414*
Variant Significance: Reported Pathogenic Type: Deletion-nonsense Region: Exon 11 Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note:
c.1243-1G>A
p.Gly415Leufs*46
Variant Significance: Reported Pathogenic Type: Indel-frame-shift Region: Intron 11,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: Severe growth phenotype
c.1243-1G>C
Variant Significance: Reported Pathogenic Type: Splice site Region: Intron 11,Splice site Reference|Structure
Links: dbSNP, SwissProt, COSMIC
Curator Note: wasn't one of the novel mutations listed in the paper, but as previously reported
c.1244G>T
p.Gly415Val
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 12 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.66 (predicted pathogenic)
Curator Note:
c.1247T>C
p.Ile416Thr
Variant Significance: VOUS Type: Missense Region: Exon 12 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.63 (predicted pathogenic) PolyPhen-2: 0.01
Curator Note: NHLBI Exome Sequencing Project, Not listed as germline (dbSNP)
c.1258C>T
p.Pro420Ser
Variant Significance: Reported Pathogenic Type: Missense Region: Not Curated Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.52 (predicted pathogenic) PolyPhen-2: 1.00 (predicted probably damaging)
Curator Note:
c.1259C>G
p.Pro420Arg
Variant Significance: Likely Pathogenic Type: Missense Region: Exon 12 Reference|Structure
Links: dbSNP, SwissProt, COSMIC MutPred: 0.61 (predicted pathogenic)
Curator Note:
c.1262G>A
p.Gly421Glu