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Links from Gene

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF12
(S1147L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H1339Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H1117P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R359C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Q1200R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(P199L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L518P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R819C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ARHGEF12
(R282W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(D195N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(V288I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(I166V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Y1312C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L1240P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H1201R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Q1072L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(N972Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(I824T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(P611L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R602C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R490L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R359H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H412R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(D389E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R362H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12, BLID
+16 more
Copy number gain
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ARHGEF12
(S540C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(C1496S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R1180K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(S1315T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(T164I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Y361C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(A40V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF12
(V54I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF12
(R1391L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(P1038L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(K192Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(K135R +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGEF12
(N1002S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Q806H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L1187S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(M1380fs +2 more)
Deletion
(frameshift variant)
Glaucoma
GUncertain significance
ARHGEF12, GRIK4
+6 more
Deletion
not provided
GUncertain significance
ARHGEF12, C1QTNF5
+14 more
Duplication
not provided
GUncertain significance
ABCG4, APOA1
+72 more
Duplication
Immunodeficiency 19
+5 more
GUncertain significance
ARHGEF12
(D1371E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(D139G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H1261P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(A430V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L1527F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(I1217N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(S309G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L186V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R468C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(H20Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF12
(C784Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(Q1176P +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGEF12
(T7A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(V1027A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(T381A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(S631P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R381C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(A1146T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(R487H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(S532T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(V587I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(L1164P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(E1048K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(E258D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(G183V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF12
(E64K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
APOC3, ARCN1
+73 more
Duplication
not provided
GUncertain significance
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
APLP2, LINC02873
+169 more
Deletion
Anemia
+7 more
GLikely pathogenic
ARHGEF12
(Y1129N +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ARHGEF12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARHGEF12
(P128S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARHGEF12
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGEF12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARHGEF12
(M647V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD3G, CDON
+160 more
Copy number gain
not provided
GPathogenic
BACE1, BACE1-AS
+176 more
Copy number gain
not provided
GPathogenic
ARHGAP32, ARHGEF12
+177 more
Copy number gain
not provided
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+114 more
Copy number loss
not provided
GPathogenic
ABCG4, APOA1
+70 more
Copy number gain
not provided
GLikely pathogenic
ABCG4, ACAD8
+608 more
Duplication
Schizophrenia
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+113 more
Copy number loss
See cases
GPathogenic
ABCG4, APOA1
+72 more
Copy number gain
See cases
GPathogenic
ARHGEF12, POU2F3
+1 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ARHGEF12, GRIK4
+24 more
Copy number gain
See cases
GUncertain significance
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