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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCAD1
(N5D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K13E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(P30R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(L38V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(E42D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(E48K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(A77E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(V102I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SMARCAD1
(S106P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(N107S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
SMARCAD1
(D128N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(L150V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(I190V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(Y217C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K275R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(M297T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(Q302P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(R314G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(T323S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(M334V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K345E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K351E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(V354A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(Y360C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(G377S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K386E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(I397V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(G398S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(T428A +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(G515E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(I608V +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(M313V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(Q792R +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(D847E +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(R429Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(K437R +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(H463L +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(D921G +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(V542I +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(G553E +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCAD1
(M1017L +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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