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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF1
(S5C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARHGEF1
(P13L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(P13R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(V19L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(D82N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARHGEF1
(A134T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(R124C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(V117M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R125C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(R173H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R176Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R196W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(H200Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(T177I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(D178N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(L224Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(M226L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(S255L +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(R288G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R243W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(A304V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGEF1
(P263R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R268W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(R301Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(H327Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(L298V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(L346P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(P366L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(G368D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(M370V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(A376V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(A370G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(E343K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(G437W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(R352W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(R400Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(S386L +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(V369I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(P403T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(I542V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(G591R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(P549T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(R552Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(E589D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(E560K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(C609S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(R652Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(D679E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(D649E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(E684K +2 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 62
+2 more
GUncertain significance
ARHGEF1
(R763Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(R826C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ARHGEF1
(R770H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF1
(P740S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(R741Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(P777L +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARHGEF1
(T797M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGEF1
(E820K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(A856V +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGEF1
(G868A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARHGEF1
(G825V +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARHGEF1
(G827S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(T880I +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ARHGEF1
(R860H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGEF1
(G917R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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