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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1A
(P27R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP6V1A
(G72D)
Single nucleotide variant
(missense variant)
Autosomal recessive cutis laxa type 2D
GPathogenic
ATP6V1A
(D100Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 93
GPathogenic
ATP6V1A
(R338C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V1A
(D349N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 93
GPathogenic
ATP6V1A
(E356D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 93
GPathogenic
ATP6V1A
(G363V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 93
GPathogenic
ATP6V1A
(D371G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 93
GPathogenic
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