Free Mutation

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.211C>T (p.Arg71*) exon 2 rs number / neighbourhood rs532566349 TGAGTACCAG[C/T]GAGCCAAGTG Genomic Coordinates GRCh37/hg19: chr14:70418966 GRCh38/hg38: chr14:69952249 Frequency ExAC: T=8.238e-06 1000GP: T=0.0002 ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 18541965. #1 PMID: 21750680, PMID: 18541965. Clinical Sign HPO ID Unilateral anophthalmia HP:0000528 Lower limbs, postaxial

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.223C>T (p.Arg75*) exon 2 rs number / neighbourhood rs370866589 AGCCAAGTGC[C/T]GAGACCCGAC Genomic Coordinates GRCh37/hg19:  chr14:70418978 GRCh38/hg38:  chr14:69952261 Frequency ExAC: T=3.295e-05 1000GP: not reported ESP: T=0.000077 Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 6544388. #1 PMID: 21750680, PMID: 6544388. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper Limb, bilateral 4-5 metacarpal

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.378+1G>T intron 3 rs number / neighbourhood no rs number CTTTACCCAG[g/t]tgaggcctcg Genomic Coordinates GRCh37/hg19: chr14:70420250 GRCh38/hg38: chr14:69953533 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194680. #1 PMID: 21194680. Clinical Sign HPO ID True anophthalmia Bilateral HP:0011478 Mild mental

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.378+1G>A intron 3 rs number / neighbourhood rs751356341 CTTTACCCAG[g/a]tgaggcctcg Genomic Coordinates GRCh37/hg19: chr14:70420250 GRCh38/hg38: chr14:69953533 Frequency ExAC: A=8.27e-06 (filtered out) 1000GP: not reported ESP: not reported Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30728) Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194678, PMID: 10607960. #1 PMID: 21194678, PMID: 10607960.

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.274C>T (p.Gln92*) exon 3 rs number / neighbourhood rs781216969 AGATGCTGGC[C/T]AGAGCAAGTG Genomic Coordinates GRCh37/hg19: chr14:70420145 GRCh38/hg38: chr14:69953428 Frequency ExAC: T=8.24e-06 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680. #1 PMID: 21750680. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs, contractures of fingers HP:0100490

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.395dupA (p.Tyr132fs*1) exon 4 rs number / neighbourhood no rs number TGCCATACTTA[-/A]CACTGGGTAC Genomic Coordinates GRCh37/hg19: chr14:70442448 GRCh38/hg38: chr14:69975731 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 17375532. #1 PMID: 21750680, PMID: 17375532. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.664+1G>A intron 7 rs number / neighbourhood no rs number AGAAATTCAG[g/a]taaataacct Genomic Coordinates GRCh37/hg19: chr14:70461198 GRCh38/hg38: chr14:69994481 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30727) Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194678, PMID: 19208380. #1

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.718C>T (Gln240*) exon 8 rs number / neighbourhood rs376672665 AGAGGCCCAG[C/T]AGAATCCCCG Genomic Coordinates GRCh37/hg19: chr14:70477524 GRCh38/hg38: chr14:70010807 Frequency ExAC: not reported 1000GP: not reported ESP: not reported The variant has been reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30726) The variant has been reported in the OMIM

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.832C>T (p.Arg278Cys) exon 8 rs number / neighbourhood rs776638586 GGACACAGGG[C/T]GCCCGCTGCC Genomic Coordinates GRCh37/hg19: chr14:70477638 GRCh38/hg38: chr14:70010921 Frequency ExAC: T=1.658e-05 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 6544388. #1 PMID: 21750680, PMID: 6544388. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs,

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.848C>A (p.Thr283Asn) exon 8 rs number / neighbourhood no rs number CTGCCTGGGA[C/A]CTCCACACGG Genomic Coordinates GRCh37/hg19: chr14:70477654 GRCh38/hg38: chr14:70010937 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 7573150. #1 PMID: 21750680, PMID: 7573150. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.857G>A (p.Arg286His) exon 8 rs number / neighbourhood no rs number ACCTCCACAC[G/A]gtaagccccc Genomic Coordinates GRCh37/hg19: chr14:70477663 GRCh38/hg38: chr14:70010946 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 23646827. #1 PMID: 23646827. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Syndactyly HP:0001159

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.910delG (p.Asp305Metfs*59) exon 9 rs number / neighbourhood no rs number TACAGAGGCG[G/-]ATGACCCCTT Genomic Coordinates GRCh37/hg19: chr14:70478254 GRCh38/hg38: chr14:70011537 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680. #1 PMID: 21750680. Clinical Sign HPO ID Upper limb, cutaneous syndactyly HP:0010554 Lower Limb,

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.1108C>T (p.Gln370*) exon 11 rs number / neighbourhood no rs number GTATTTCAGC[C/T]AGCTGGACAG Genomic Coordinates GRCh37/hg19: chr14:70489981 GRCh38/hg38: chr14:70023264 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 8723070. #1 PMID: 21750680, PMID: 8723070 Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper

94.44% 17/18 clinical anophthalmia (unilateral or bilateral) HP:0000528 72.22% 13/18 clinical anophthalmia (unilateral or bilateral) HP:0000528 22,22% 4/18 true anophthalmia HP:0011478 61.11% 11/18 toe syndactyly HP:0001770 22.22% 4/18 2-3 toe cutaneous syndactyly HP:0005709 16.67% 3/18 3-5 toes syndactyly HP:0010716 11.11% 2/18 4-5 toe syndactyly HP:0004692 11.11% 2/18 cutaneous syndactyly of toes HP:0010621 5.56% 1/18 2-5

Content of the database This database contains information about the pathogenic variants which are reported in papers indexed in PubMed for the SMOC1 gene and the related mendelian disease microphthalmia with limb anomalies. In the SMOC1 homepage you can find: a link to a revised list of the most common features of the disorder. In this list