Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_019032.5(ADAMTSL4):c.767_786del20 (p.Gln256Profs) | 54507 | ADAMTSL4 | Pathogenic | 199473693 | RCV000032754; RCV000032753; | N | MedGen:C1644196,OMIM:225200,SNOMED CT:419237004; MedGen:C2673634,OMIM:225100 | 1 | 150526234 | 150526253 | NM_019032.5:c.767_786del20 | NP_061905.2:p.Gln256Profs | NC_000001.10:g.150526234_150526253del20 | OMIM Allelic Variant:610113.0003 | C1644196 225200 Ectopia lentis et pupillae; C2673634 225100 Ectopia lentis, isolated autosomal recessive | | |
NM_019032.5(ADAMTSL4):c.826_836delCGTGCATCCCC (p.Arg276Serfs) | 54507 | ADAMTSL4 | Pathogenic | 794726688 | RCV000032755; RCV000032756; | N | MedGen:C1644196,OMIM:225200,SNOMED CT:419237004; MedGen:C2673634,OMIM:225100 | 1 | 150526293 | 150526303 | NM_019032.5:c.826_836delCGTGCATCCCC | NP_061905.2:p.Arg276Serfs | NC_000001.10:g.150526293_150526303delCGTGCATCCCC | OMIM Allelic Variant:610113.0004 | C1644196 225200 Ectopia lentis et pupillae; C2673634 225100 Ectopia lentis, isolated autosomal recessive | | |
NM_019032.5(ADAMTSL4):c.2270dupG (p.Gly758Trpfs) | 54507 | ADAMTSL4 | Pathogenic | 794726690 | RCV000032759; | N | MedGen:C1644196,OMIM:225200,SNOMED CT:419237004 | 1 | 150530513 | 150530513 | NM_019032.5:c.2270dupG | NP_061905.2:p.Gly758Trpfs | NC_000001.10:g.150530513dupG | OMIM Allelic Variant:610113.0007 | C1644196 225200 Ectopia lentis et pupillae | | |