Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter) | 64218 | SEMA4A | Pathogenic | rs1249149946 | RCV001199781; | N | MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813 | 1 | 156132736 | 156132736 | | | 1:g.156132736C>T | - | | |
NM_021961.6(TEAD1):c.331-907AT[4] | 7003 | TEAD1 | Benign | rs10543484 | RCV000988488; | N | MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813 | 11 | 12900348 | 12900349 | | | 11:g.12900348_12900349del | - | | |
NM_021961.6(TEAD1):c.513C>T (p.Asp171=) | 7003 | TEAD1 | Benign | -1 | RCV001514589|RCV001838661; | N | MedGen:CN517202|MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813 | 11 | 12903443 | 12903443 | | | 12903443 | - | | |
NM_021961.6(TEAD1):c.675C>T (p.Leu225=) | 7003 | TEAD1 | Benign/Likely benign | rs148823826 | RCV000625341|RCV000891085|RCV001700273; | N | MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813|MedGen:CN517202|MedGen:CN169374 | 11 | 12904648 | 12904648 | | | NC_000011.9:g.12904648C>T | ClinGen:CA5891702 | C1862382 108985 Sveinsson chorioretinal atrophy; | |
NM_021961.6(TEAD1):c.1261T>C (p.Tyr421His) | 7003 | TEAD1 | Pathogenic | rs11567847 | RCV000013465; | N | MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813 | 11 | 12958749 | 12958749 | | | 11:g.12958749T>C | ClinGen:CA122593,OMIM:189967.0001 | C1862382 108985 Sveinsson chorioretinal atrophy; | |
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn) | 7003 | TEAD1 | Conflicting interpretations of pathogenicity | rs11567847 | RCV001264402; | N | MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813 | 11 | 12958749 | 12958749 | | | 11:g.12958749T>A | OMIM:189967.0002 | | |