Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_199355.4(ADAMTS18):c.3380G>A (p.Trp1127Ter) | 170692 | ADAMTS18 | Pathogenic | -1 | RCV001381535|RCV001785815; | N | MedGen:CN517202|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77325185 | 77325185 | | | 77325185 | - | | |
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp) | 170692 | ADAMTS18 | Conflicting interpretations of pathogenicity | rs148703569 | RCV000899321|RCV001593127|RCV003141892; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77327005 | 77327005 | | | 16:g.77327005G>A | - | | |
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu) | 170692 | ADAMTS18 | Conflicting interpretations of pathogenicity | rs138435590 | RCV001043787|RCV001593211|RCV002552537|RCV003141961; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77331235 | 77331235 | | | 16:g.77331235T>C | - | | |
NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter) | 170692 | ADAMTS18 | Pathogenic | rs397515467 | RCV000056279; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77356331 | 77356331 | | | 16:g.77356331C>A | ClinGen:CA144840,OMIM:607512.0003 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | |
NM_199355.4(ADAMTS18):c.1985C>G (p.Pro662Arg) | 170692 | ADAMTS18 | Uncertain significance | rs747420099 | RCV001046484|RCV002505582; | N | MedGen:CN517202|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77359810 | 77359810 | | | 16:g.77359810G>C | - | | |
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp) | 170692 | ADAMTS18 | Pathogenic | rs148319220 | RCV000056278; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77369781 | 77369781 | | | 16:g.77369781G>C | ClinGen:CA144839,UniProtKB:Q8TE60#VAR_070850,OMIM:607512.0002 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | |
NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro) | 170692 | ADAMTS18 | Pathogenic | rs397515468 | RCV000056280; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77401511 | 77401511 | | | 16:g.77401511A>G | ClinGen:CA144842,UniProtKB:Q8TE60#VAR_070849,OMIM:607512.0004 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | |
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His) | 170692 | ADAMTS18 | Benign | rs11643211 | RCV000989637|RCV001529179|RCV001521325; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970|MedGen:CN169374|MedGen:CN517202 | 16 | 77401545 | 77401545 | | | 16:g.77401545A>G | - | | |
NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter) | 170692 | ADAMTS18 | Pathogenic | rs397515469 | RCV000056281; | N | MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970 | 16 | 77468396 | 77468396 | | | 16:g.77468396G>A | ClinGen:CA144843,OMIM:607512.0005 | C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus; | |