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Items: 1 to 100 of 438

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
BRD8, CDC23
+236 more
Copy number gain
See cases
GPathogenic
ECSCR, EGR1
+224 more
Copy number gain
See cases
GPathogenic
KIF20A
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KIF20A
(S2A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(G4R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(P8L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KIF20A
(L13P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(D30E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(R36C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(S41L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(S44F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(S47P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(T48A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF20A
(S49F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC23, CDC25C
+49 more
Copy number gain
See cases
GUncertain significance
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(P57A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(E63K)
Single nucleotide variant
(missense variant)
not provided
GBenign
KIF20A
(K64M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF20A
(V67L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(L74F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(R81*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KIF20A
(R81Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF20A
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
KIF20A
Duplication
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
(R89C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KIF20A
(R89H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(T95I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(L96F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF20A
(A106S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(N110S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(R112W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(R112G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(R112Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(I114T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(Q116*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(Q125K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
KIF20A
Deletion
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
(I126N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF20A
(P129S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF20A
(Q133R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(A134P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(M144T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(D147N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(V148I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(V161fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
KIF20A
(T158S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(Y159N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(T169M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(intron variant)
not provided
GBenign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KIF20A
(I179V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(L180I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(R182W)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 6
GPathogenic
KIF20A
(R182Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF20A
(A185V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(N189S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF20A
(S190I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(S190N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF20A
(L191I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF20A
(L191P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(T198I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(D200H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF20A
(K215R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF20A
(R218*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KIF20A
(R218Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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