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Items: 1 to 100 of 1311

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ATP1A2, ATP1A4
+18 more
Copy number gain
See cases
GBenign
ATP1A2, IGSF8
+8 more
Copy number loss
See cases
GBenign
ATP1A2, IGSF8
+8 more
Copy number gain
See cases
GBenign
ATP1A2
Single nucleotide variant
not provided
GBenign
ATP1A2
Deletion
not provided
GLikely benign
ATP1A2
Single nucleotide variant
not provided
GLikely benign
ATP1A2
Single nucleotide variant
Migraine, familial hemiplegic, 2
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
Alternating hemiplegia of childhood 1
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATP1A2
(M1T)
Single nucleotide variant
(missense variant +1 more)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R3C)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R3H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(G4R)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(splice donor variant)
Familial hemiplegic migraine
GLikely pathogenic
ATP1A2
Single nucleotide variant
(splice donor variant)
Migraine, familial hemiplegic, 2
GLikely pathogenic
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Deletion
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GBenign
ATP1A2
Deletion
(intron variant)
not provided
GBenign
ATP1A2
Deletion
(intron variant)
not specified
GBenign
ATP1A2
Deletion
(intron variant)
Familial hemiplegic migraine
+6 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(A5S)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R7G)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R7C)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+1 more
GUncertain significance
ATP1A2
(R7P)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R7H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATP1A2
(Y9N)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+7 more
GBenign/Likely benign
ATP1A2
(S10L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
ATP1A2
(A13T)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+3 more
GUncertain significance
ATP1A2
(A13V)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(T15M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(A16T)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(G19V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP1A2
(G20S)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(G20D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(G21S)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(K23E)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(D31N)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(E36K)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+2 more
GUncertain significance
ATP1A2
(A38T)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(K43R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP1A2
(K43N)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+7 more
GBenign
ATP1A2
(S45T)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(G50V)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(R51C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP1A2
(R51H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(R51L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP1A2
(Y53C)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(Q54K)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
(V55L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(L57P)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
ATP1A2
(S58T)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GUncertain significance
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
GLikely benign
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