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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP11A, ARHGAP11A-SCG5
+1 more
(G20V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
+1 more
(A39T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(E83D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(D103G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(H104R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGAP11A, ARHGAP11A-SCG5
(P113L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGAP11A, ARHGAP11A-SCG5
(L120H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(S214F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P250T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(A251V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G257V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G266D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(L133F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(A326D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(L141F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(E376G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(I388V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G201R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(S422P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P423S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(R274Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(L281S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(T479A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(L482H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(M519R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(I554T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P371T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(S604A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P632Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(E645G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P560S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P749L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGAP11A, ARHGAP11A-SCG5
(S573C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(M591V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGAP11A, ARHGAP11A-SCG5
(L788S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A-SCG5, ARHGAP11A
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
GLikely pathogenic
ARHGAP11A, ARHGAP11A-SCG5
(S796F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(P633L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(R635S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(E661A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G689V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G878A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(E733D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G956D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(M979V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(N987I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP11A, ARHGAP11A-SCG5
(G1010R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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