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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A2
(R63*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ATP6V0A2
Single nucleotide variant
(splice donor variant)
Cutis laxa with osteodystrophy
+1 more
GPathogenic
ATP6V0A2
(L118fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
Gnot provided
ATP6V0A2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ATP6V0A2
(E281fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
Gnot provided
ATP6V0A2
(E442*)
Single nucleotide variant
(nonsense)
Cutis laxa with osteodystrophy
Gnot provided
ATP6V0A2, LOC126861666
(Q645fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
GLikely pathogenic
ATP6V0A2
Deletion
(splice acceptor variant)
Cutis laxa with osteodystrophy
GPathogenic
ATP6V0A2
(Q765*)
Single nucleotide variant
(nonsense)
Cutis laxa with osteodystrophy
GPathogenic
ATP6V0A2
(D768N)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
Gnot provided
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
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