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Links from Gene

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD2BP2-DT, TBC1D10B
(R742L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130058824, TBC1D10B
(A17P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R647W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(K762E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(L781P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130058824, TBC1D10B
(P24A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R646C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R803Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R648W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(V600M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(S536L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(D786G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(P788S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(A673S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130058824, TBC1D10B
(G27D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130058824, TBC1D10B
(R26L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(P503L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R728W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R742W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(V683I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(Q588R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R742Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CD2BP2-DT, TBC1D10B
(E578D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R510Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(S780L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(N602S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R777Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130058824, TBC1D10B
(R26W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(R584H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(E739K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD2BP2-DT, TBC1D10B
(M591I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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