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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A2
(K103N)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+4 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
(E258G)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
(G350S)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+2 more
GUncertain significance
ATP6V0A2
(V420L)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+3 more
GBenign/Likely benign
ATP6V0A2
(I467M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(synonymous variant)
Cutis laxa, recessive
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP6V0A2
(A795V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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