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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP31
Single nucleotide variant
(splice acceptor variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(A407D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(I1212T)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(E488Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(E603K)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(G384S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
(S1182N)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(V1075M)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(V355L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(R426G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(S161T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
(R1430Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(K449E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGAP31
(Q1233L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARHGAP31
(S1067G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(L496P)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(S824F)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(A1199V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARHGAP31
(R230W)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
(E1083K)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
(S249G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(A1003T)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(H48Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
(P804Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GUncertain significance
ARHGAP31
(G533R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ARHGAP31
(T1380I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
GLikely benign
ARHGAP31
(Q728*)
Single nucleotide variant
(nonsense)
Adams-Oliver syndrome 1
GPathogenic
DOCK6, DOCK6-AS1
(Q1188* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARHGAP31
(A1086T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
(G803S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARHGAP31
(P787A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+2 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARHGAP31
(P567L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+1 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
ARHGAP31
(G775S)
Single nucleotide variant
(missense variant)
ARHGAP31-related condition
+2 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 1
+2 more
GBenign
ARHGAP31
(K540E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARHGAP31
(V1366M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ARHGAP31
(P274S)
Single nucleotide variant
(missense variant)
ARHGAP31-related condition
+3 more
GBenign/Likely benign
ARHGAP31
(K1087fs)
Deletion
(frameshift variant)
Adams-Oliver syndrome 1
GPathogenic
ARHGAP31
(Q683*)
Single nucleotide variant
(nonsense)
Adams-Oliver syndrome 1
GPathogenic
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