NM_012463.4(ATP6V0A2):c.1724+2T>CLikely pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
β
ββ2026
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)Pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β
β
ββ2026β Residue 133
NM_012463.4(ATP6V0A2):c.1514+1G>APathogenic
not provided|Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
β
ββ2025
NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter)Pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
β
ββ2025β Residue 70
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)Pathogenic
not provided|ALG9 congenital disorder of glycosylation|Cutis laxa|Wrinkly skin syndrome;Cutis laxa with osteodystrophy
β
β
ββ2025β Residue 27
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation|not provided
β
β
ββ2025β Residue 765
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)Pathogenic
not provided
β
β
ββ2025β Residue 102
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)Pathogenic
Cutis laxa with osteodystrophy|not provided|Cutis laxa|ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β
β
ββ2024β Residue 63
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)Likely pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β
β
ββ2024β Residue 397
NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)Pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
β
ββ2024β Residue 43
NM_012463.4(ATP6V0A2):c.117+1delLikely pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β
β
ββ2024
NM_012463.4(ATP6V0A2):c.732-2A>GPathogenic
Cutis laxa with osteodystrophy|not provided|ALG9 congenital disorder of glycosylation
β
β
ββ2023
NM_012463.4(ATP6V0A2):c.2293+1G>ALikely pathogenic
not provided|ALG9 congenital disorder of glycosylation
β
β
ββ2023
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
βββ2026β Residue 442
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β
βββ2026β Residue 753
NM_012463.4(ATP6V0A2):c.2313G>A (p.Trp771Ter)Pathogenic
ALG9 congenital disorder of glycosylation
β
βββ2026β Residue 771
NM_012463.4(ATP6V0A2):c.924dup (p.Tyr309fs)Pathogenic
ALG9 congenital disorder of glycosylation
β
βββ2025β Residue 309
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)Pathogenic
ALG9 congenital disorder of glycosylation
β
βββ2025β Residue 293
NM_012463.4(ATP6V0A2):c.2466-2A>GLikely pathogenic
Acute myeloid leukemia|ALG9 congenital disorder of glycosylation
β
βββ2025
NM_012463.4(ATP6V0A2):c.581dup (p.Val195fs)Pathogenic
ALG9 congenital disorder of glycosylation
β
βββ2025β Residue 195