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Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V1A
(L10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(D11Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GUncertain significance
ATP6V1A
(D11N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(G19A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(H22R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(P27R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
ATP6V1A
Duplication
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
(T30A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(M34V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(A35V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(M39I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(E49K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(E53K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(M61T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(M61I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
(G72D)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2D
GPathogenic
ATP6V1A
(V73M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(S74A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(V75F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(G83S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(G83D)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GUncertain significance
ATP6V1A
(P85T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATP6V1A
(S87fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
ATP6V1A
(S87fs)
Indel
(frameshift variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(I94L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(I94V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V1A
(M95T)
Single nucleotide variant
(missense variant)
ATP6V1A-related disorder
GUncertain significance
ATP6V1A
(F99S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(D100Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GPathogenic
ATP6V1A
(D100V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
+1 more
GLikely pathogenic
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(S107L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATP6V1A
(T113N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(P119L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(V124M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GLikely benign
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(S125C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATP6V1A
(K132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(W133fs)
Insertion
(frameshift variant)
ATP6V1A-related disorder
GUncertain significance
ATP6V1A
(F135L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(P137L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(C138Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(K139R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(R142W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
(V143D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(G144D)
Single nucleotide variant
(missense variant)
Developmental disorder
GUncertain significance
ATP6V1A
(S145T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(S145R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(I147M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(Y153C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(E158D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(N159S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(K165E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(I166S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6V1A
(R171Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(T175I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 2
GUncertain significance
ATP6V1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP6V1A
(G183A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GUncertain significance
ATP6V1A
(G183E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(N184T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
Deletion
(intron variant)
not provided
GBenign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP6V1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP6V1A
(E195G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(F196Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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