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Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
ATP2B4
(T2M)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP2B4
(R7S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP2B4
(R7C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP2B4
(R7H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(M14T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP2B4
(R18S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R18L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R18H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(D21N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(D21A)
Single nucleotide variant
(missense variant)
ATP2B4-related disorder
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(V46I)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ATP2B4
(G50A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(V51I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(T60I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(P62S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(E74K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(Q78H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(I108T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I111F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(R123C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R123H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(A136T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(P139S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(A153T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R183C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(I184M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
(D218Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(A222V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(D251E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
(S278A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(G288E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(G288V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP2B4
(V289L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(E294K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(D333G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(D333E)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
ATP2B4
(V342A)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP2B4
(V344M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(I363T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(I379V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I384T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(F410V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(A461T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
(M472V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R474H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(G484C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R488C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R488H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(D502N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B4
(P520A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(R529W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(E536K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(V543I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(R554C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(Y563C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
(N583S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(intron variant)
ATP2B4-related disorder
GLikely benign
ATP2B4
(R607Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(G609A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B4
(N616H)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATP2B4
(R624C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(R624H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(I627V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(E628K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B4
(G634R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ATP2B4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B4
(I640V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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Format
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