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Links from Gene

Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF16
(P267S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(P42L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGEF16
(P192L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTRT2, ARHGEF16
+38 more
Duplication
not provided
GUncertain significance
ACAP3, ACTRT2
+60 more
Deletion
Shprintzen-Goldberg syndrome
GUncertain significance
ARHGEF16
(R317L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E291K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E271K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R257W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S255T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S240T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E237K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R119W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(A99V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(Q597R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(P568H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(V559E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(M478L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(Q464K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(K460Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R399Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E368Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E344Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3, ACTRT2
+76 more
Copy number gain
not specified
GPathogenic
RNF207, RNF223
+108 more
Copy number loss
not specified
GPathogenic
ACTRT2, AJAP1
+27 more
Copy number loss
not specified
GPathogenic
ARHGEF16
(V579M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACTRT2, ARHGEF16
+25 more
Copy number gain
not provided
GUncertain significance
MIR551A, PANK4
+58 more
Copy number gain
not provided
GPathogenic
ACTRT2, ARHGEF16
+13 more
Copy number loss
not provided
GUncertain significance
SCNN1D, SDF4
+67 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+116 more
Copy number loss
not provided
GPathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ARHGEF16
(M416T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R18C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(A367T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S304G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT7, ACTRT2
+40 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACTRT2
+79 more
Copy number loss
not provided
GPathogenic
ARHGEF16
(M289T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S131Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(E281G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(L493F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(D673V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S626C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S298F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R575C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R349Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R4Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTRT2, ARHGEF16
+88 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
ARHGEF16
(G29R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(G142R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R349W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R18H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R257Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R155W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(L81V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R39H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(A642V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R685H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R317W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S499C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(G674R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(Y479H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(Q595E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(A367S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R155Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(I362V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(Q584R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(V307M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(D533N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(V536F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(L567I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(I687V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(F398S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(V613A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R518Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(R190Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16
(S295L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF16, C1orf174
+11 more
Copy number gain
not provided
GUncertain significance
ACTRT2, AJAP1
+24 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
C1orf174, ACTRT2
+24 more
Copy number gain
not provided
GUncertain significance
GPR157, H6PD
+124 more
Copy number loss
Chromosome 1p36 deletion syndrome, proximal
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TNFRSF18, TNFRSF4
+77 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ATAD3A, ACAP3
+74 more
Deletion
Peroxisome biogenesis disorder, complementation group 7
GPathogenic
DNAJC11, DVL1
+101 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
not provided
GPathogenic
SMIM1, ZBTB48
+47 more
Copy number loss
Chromosome 1p36 deletion syndrome
Gnot provided
ACAP3, ACTRT2
+80 more
Copy number loss
not provided
GPathogenic
ARHGEF16, C1orf174
+11 more
Copy number gain
not provided
GUncertain significance
PUSL1, RER1
+98 more
Copy number loss
Harel-Yoon syndrome
GLikely pathogenic
ACTRT2, ARHGEF16
+32 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+78 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
ARHGEF16
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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