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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
AUP1, C2orf81
+86 more
Copy number loss
See cases
GLikely pathogenic
AUP1, CCDC142
+66 more
Copy number gain
See cases
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(G8R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(A28V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(G29D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(K44N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(G58R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P67S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(I171T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(E173K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(A187S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(R188Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P191S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P193S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(A246T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(A257V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(A268T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(M272L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
+1 more
(Y275H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(S301C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(S303T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P305A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P306S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(P307S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(R318L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B, INO80B-WBP1
(L354W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(E11K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(A13P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(A19T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(P35S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(E39D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(S40N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R76C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R78Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R89W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(T110A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(P140S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(G146D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(E154D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(S181T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(P184R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R204C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R206H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(R207C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(L216F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(V228F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(P254L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
INO80B-WBP1, WBP1
(P269S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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