| | | Copy number gain | See cases | |
| | LOC130009126, LOC130009127 +906 more | Copy number gain | See cases | |
| | LOC130009192, LOC130009193 +892 more | Copy number gain | See cases | |
| | LOC132090050, LOC132090051 +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 8 +3 more | |
| | | Insertion (3 prime UTR variant) | Cutis laxa, recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +2 more | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | Cutis laxa, recessive | |
| | | Single nucleotide variant | Cutis laxa, recessive +1 more | |
| | ATP6V0A2, LOC130009117 +1 more | Single nucleotide variant | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cutis laxa, recessive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Cutis laxa with osteodystrophy | |
| | ATP6V0A2, LOC130009117 +1 more | Single nucleotide variant (5 prime UTR variant) | Cutis laxa, recessive +4 more | |
| | ATP6V0A2, LOC130009117 (M1L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ATP6V0A2, LOC130009117 (R6fs) | Deletion (frameshift variant) | Cutis laxa with osteodystrophy | |
| | ATP6V0A2, LOC130009117 (R6Q) | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | ATP6V0A2, LOC130009117 (S7G) | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation | |
| | LOC130009117, ATP6V0A2 (T9I) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | ATP6V0A2, LOC130009117 (M10V) | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation +4 more | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | ATP6V0A2, LOC130009117 (L12V) | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | ATP6V0A2, LOC130009117 (A22V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | ATP6V0A2, LOC130009117 (S27fs) | Duplication (frameshift variant) | Cutis laxa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | ATP6V0A2, LOC130009117 (G30D) | Single nucleotide variant (missense variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG9 congenital disorder of glycosylation | |
| | | Deletion (splice donor variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Microsatellite (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Indel (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Insertion (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Deletion (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Deletion (intron variant) | ALG9 congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (splice acceptor variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ATP6V0A2-related disorder | |
| | | Single nucleotide variant (nonsense) | ALG9 congenital disorder of glycosylation +3 more | |
| | | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ALG9 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |