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Links from MedGen

Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A2
(C341Y)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+1 more
GLikely pathogenic
ATP1A2, LOC126805890
(S220L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP1A2
(D261G)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
(Q741P)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
(P720S)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
(S145P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ATP1A2
(R937C)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+2 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2
(S516A)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2, LOC126805890
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
ATP1A2
(R908Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign/Likely benign
ATP1A2
Duplication
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 1
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ATP1A2
(R834Q)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+1 more
GPathogenic
ATP1A2
(I630L)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GLikely pathogenic
ATP1A2
(R937fs)
Deletion
(frameshift variant)
Alternating hemiplegia of childhood
+1 more
GLikely pathogenic
ATP1A2
(G713V)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
(I511F)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Migraine, familial hemiplegic, 2
+1 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+2 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
Migraine, familial hemiplegic, 2
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 1
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(S672L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(L455I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATP1A2
(P85S)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
(S672T)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+2 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+2 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(R51C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP1A2, LOC126805890
(T224I)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+2 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Migraine, familial hemiplegic, 2
+3 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2, LOC126805890
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
(R644W)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+2 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign/Likely benign
ATP1A2
(T263M)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+2 more
GPathogenic/Likely pathogenic
ATP1A2
(R1002Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP1A2
(A688S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATP1A2
(T517N)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+5 more
GConflicting classifications of pathogenicity
ATP1A2
(G366D)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+2 more
GUncertain significance
Deletion
Variegate porphyria
+3 more
GPathogenic
ATP1A2, LOC126805890
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2, LOC126805890
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2, LOC126805890
(N246D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ATP1A2
(D894Y)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+2 more
GUncertain significance
ATP1A2
(G855R)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+5 more
GPathogenic
ATP1A2
(D528N)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(A297T)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+4 more
GConflicting classifications of pathogenicity
ATP1A2
Deletion
(intron variant)
Familial hemiplegic migraine
+5 more
GBenign/Likely benign
ATP1A2
(R421Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATP1A2
(V924M)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+3 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(R428C)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+4 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+4 more
GConflicting classifications of pathogenicity
ATP1A2
(T620R)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+5 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GBenign
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