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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D4
(L1216V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(V1107I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(N1013K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S1050P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(R1041H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(D1037E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(I1011F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(D969N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P948S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(Y935H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S858N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(F812C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E805G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(T803P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(Q730R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S781L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(K723R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(M776T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(A737G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBC1D4
(P726A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBC1D4
(R723G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBC1D4
(S681L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBC1D4
(S681A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126861801, TBC1D4
(H641Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(R581G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(K564R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S537P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(I532S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E497G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(I495V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S460Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(A455V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(T448M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(A440V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(R403W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(R363Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(H345P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P335L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P287L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(G283A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(H277Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(T276A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(D272V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E269K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P246A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TBC1D4
(G245S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E242G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(K238T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBC1D4
(R236P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(H232Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E227Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(C207F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(A195T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S172N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(A161T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(Y138S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(S127W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(H125R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(F117L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P114L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(G103R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(M59I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P56S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(G42E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(R37Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(G29R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(P28S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TBC1D4
(L16R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(L16M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D4
(E10K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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