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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A2
(R776H)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+3 more
GUncertain significance
ATP6V0A2, LOC130009117
(M10V)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+3 more
GUncertain significance
ATP6V0A2
(V295I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ATP6V0A2
(R141H)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
+3 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ATP6V0A2
(I180T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
+2 more
GBenign
ATP6V0A2
(E741D)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
GUncertain significance
ATP6V0A2
(V556M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATP6V0A2
(D706N)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+3 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Wrinkly skin syndrome
+3 more
GBenign/Likely benign
ATP6V0A2
(R340W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP6V0A2
(R141L)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+4 more
GConflicting classifications of pathogenicity
ATP6V0A2
(G778V)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
+3 more
GUncertain significance
ATP6V0A2
(I691T)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
+3 more
GUncertain significance
ATP6V0A2
(P522L)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
+3 more
GUncertain significance
ATP6V0A2
(A205V)
Single nucleotide variant
(missense variant)
Wrinkly skin syndrome
+4 more
GConflicting classifications of pathogenicity
ATP6V0A2
(K103N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATP6V0A2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATP6V0A2
Single nucleotide variant
(splice donor variant)
Cutis laxa with osteodystrophy
+1 more
GPathogenic
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