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Links from Gene

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2B1
(S1005I +10 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Intellectual developmental disorder, autosomal dominant 66
GUncertain significance
ATP2B1
(Y53C)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 66
GUncertain significance
ATP2B1
(G1006A +10 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
ATP2B1
(L34V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B1
(V812I +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B1
(G628V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B1
(I419V +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 66
GUncertain significance
ATP2B1
(S102C +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder, autosomal dominant 66
GUncertain significance
ATP2B1
(G330A +6 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder, autosomal dominant 66
GUncertain significance
ATP2B1
(E800* +7 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal dominant 30
GLikely pathogenic
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