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Links from MedGen

Items: 1 to 100 of 178

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A2
(Y753fs)
Duplication
(frameshift variant)
Cutis laxa with osteodystrophy
GPathogenic
ATP6V0A2, LOC130009117
(R6fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
GLikely pathogenic
ATP6V0A2
(F814Y)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
GUncertain significance
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
(E332K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP6V0A2
(V295I)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+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)
ALG9 congenital disorder of glycosylation
+4 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
+2 more
GBenign
ATP6V0A2
(R678C)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
(R371H)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+1 more
GUncertain significance
ATP6V0A2
(L335fs)
Deletion
(frameshift variant)
Cutis laxa with osteodystrophy
GPathogenic
ATP6V0A2
Deletion
(nonsense)
Cutis laxa with osteodystrophy
GPathogenic
ATP6V0A2
(V556M)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+2 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
(P147L)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+3 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
(F849L)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+1 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
(N477S)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+3 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(synonymous variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
(A307G)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+2 more
GUncertain significance
ATP6V0A2, LOC130009117
(G30D)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2, LOC130009117
Single nucleotide variant
(5 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
(G265R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATP6V0A2
(E264G)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+1 more
GUncertain significance
ATP6V0A2
(I262M)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
(R259Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V0A2
(D706N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP6V0A2
Microsatellite
(intron variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
+2 more
GBenign/Likely benign
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(synonymous variant)
ALG9 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
(R780H)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+1 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
+3 more
GBenign/Likely benign
ATP6V0A2
(R780C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(synonymous variant)
Cutis laxa with osteodystrophy
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
(R340W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP6V0A2, LOC130009117
(T9I)
Single nucleotide variant
(missense variant)
Cutis laxa with osteodystrophy
+3 more
GUncertain significance
ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
+2 more
GConflicting classifications of pathogenicity
ATP6V0A2
(R141L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATP6V0A2
Single nucleotide variant
(intron variant)
ALG9 congenital disorder of glycosylation
+2 more
GBenign
LOC130009117, ATP6V0A2
Single nucleotide variant
(intron variant)
Cutis laxa with osteodystrophy
+2 more
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GLikely benign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GBenign
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GUncertain significance
ATP6V0A2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa with osteodystrophy
GLikely benign
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