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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMTC4
(P606H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L713R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(Q603R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(Y728H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(G719R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(M674V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(P504L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V610M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N617S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N608S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R572Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R454Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L452V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N555D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(A441E +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(A440T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V526G +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R523Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R520I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L381M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N370S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(A363D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R463Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(E352K +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(T454M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TMTC4
(V446M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(H452Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V425M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R423Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(I412T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMTC4
(V390I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TMTC4
(G278E +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(H268R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L368R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(A357V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(I245T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L365R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(C394Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(L219V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(Y210C +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N336S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(S364F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(P373L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(P184L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(T182M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(R345L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V286L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(Y343C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(G262C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V140G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(N196D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(D174A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(V161L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(A172T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(F126L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(N130S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(G125D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(V105M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
TMTC4
(K82Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(T60M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(D55Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMTC4
(D60E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMTC4
(S28L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TMTC4
(P15L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
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