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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A2
Deletion
(intron variant)
Developmental and epileptic encephalopathy 98
+6 more
GBenign
ATP1A2
(Y9N)
Single nucleotide variant
(missense variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+7 more
GBenign/Likely benign
ATP1A2
(R65L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 98
+5 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+7 more
GBenign/Likely benign
ATP1A2
(R92H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP1A2
(G114S)
Single nucleotide variant
(missense variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+7 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+6 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
(R279Q)
Single nucleotide variant
(missense variant)
ATP1A2-related condition
+4 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+1 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+4 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+7 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+8 more
GBenign
ATP1A2
(D470E)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+2 more
GUncertain significance
ATP1A2
(E492K)
Single nucleotide variant
(missense variant)
ATP1A2-related condition
+6 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+1 more
GConflicting classifications of pathogenicity
ATP1A2
(N556Y)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(I698T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP1A2
(V738I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+1 more
GConflicting classifications of pathogenicity
ATP1A2
(M892T)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+3 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+7 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(I1005T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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