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Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP31
(A18V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ARHGAP31
Deletion
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
ARHGAP31
Deletion
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
(K39R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(I45V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(H48Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Insertion
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
(Q75K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(Y84H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+2 more
GBenign/Likely benign
ARHGAP31
(S120L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(E125del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+1 more
GBenign/Likely benign
ARHGAP31
(R130Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ARHGAP31
(R151Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ARHGAP31
(I156V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(A167T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
(T187P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(C189W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(R199Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGAP31
(V200I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
(Q201*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARHGAP31
(I205T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+2 more
GBenign
ARHGAP31
(A220V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(P221L)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ARHGAP31
(N226D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
(R230W)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
(R230Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(M233R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(A240V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(K246N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(R256C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
(R265C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ARHGAP31
(P274S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ARHGAP31
(P278L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(L283H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
(R295Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(S301L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(R312C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ARHGAP31
(N324S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(T367A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(S382F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ARHGAP31
(G384S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(R417G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
(A423P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(P428R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ARHGAP31
(K449E)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
(N458K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(P461T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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