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Links from Gene

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F12, FGFR4
+34 more
Duplication
Russell-Silver syndrome
GPathogenic
RGS14
(R335Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(S127C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(K392R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(E182D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, B4GALT7
+37 more
Copy number loss
not provided
GPathogenic
RGS14
(G32C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(S260F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(R14L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(A140T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(E58G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(E58K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(K456R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(G429E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RGS14
(E406K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(V387I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(I374V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(S338C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B4GALT7, DBN1
+12 more
Copy number gain
not specified
GUncertain significance
B4GALT7, CLK4
+33 more
Copy number loss
not specified
GPathogenic
ARL10, B4GALT7
+38 more
Copy number loss
not provided
GPathogenic
FAM193B, GPRIN1
+36 more
Deletion
not provided
GPathogenic
RGS14
(T562I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS14
(P393R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(R14H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(G236E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(H473Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS14
(G294C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(L248R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(L248V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(P220S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(P220L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B4GALT7, DBN1
+16 more
Duplication
Sotos syndrome
GUncertain significance
ADAMTS2, ARL10
+63 more
Duplication
not provided
GUncertain significance
B4GALT7, DBN1
+22 more
Deletion
Sotos syndrome
GPathogenic
RGS14
(T393S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(Q357E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(E541Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RGS14
(K548E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RGS14
(A535V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS14
(A477V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RGS14
(E35K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(G428R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(V361M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS14
(S481G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
B4GALT7, COL23A1
+25 more
Copy number gain
not provided
GLikely pathogenic
B4GALT7, DBN1
+16 more
Copy number gain
not provided
GUncertain significance
DBN1, DDX41
+14 more
Copy number gain
not provided
GUncertain significance
B4GALT7, DBN1
+16 more
Copy number gain
not provided
GLikely pathogenic
ADAMTS2, ARL10
+117 more
Copy number gain
See cases
GPathogenic
CDHR2, EIF4E1B
+71 more
Duplication
5q35 microduplication syndrome
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
GRK6, HK3
+26 more
Deletion
Ehlers-Danlos syndrome progeroid type
GUncertain significance
B4GALT7, COL23A1
+25 more
Copy number gain
not provided
GLikely pathogenic
RGS14
Single nucleotide variant
not provided
GBenign
ADAMTS2, ARL10
+115 more
Copy number gain
5q35 microduplication syndrome
GPathogenic
ARL10, B4GALT7
+38 more
Copy number gain
not provided
GPathogenic
ARL10, B4GALT7
+34 more
Copy number gain
not provided
GPathogenic
SLC34A1, THOC3
+38 more
Copy number loss
Sotos syndrome
GPathogenic
RGS14
(E541K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
UNC5A, ZNF346
+28 more
Deletion
Marfanoid habitus and intellectual disability
GLikely pathogenic
B4GALT7, DBN1
+12 more
Copy number gain
not provided
GUncertain significance
COL23A1, ADAMTS2
+36 more
Copy number gain
not provided
GUncertain significance
ARL10, B4GALT7
+36 more
Copy number gain
not provided
GPathogenic
B4GALT7, DBN1
+15 more
Copy number loss
not provided
GUncertain significance
ADAMTS2, B4GALT7
+80 more
Duplication
not provided
GLikely pathogenic
B4GALT7, DBN1
+23 more
Copy number gain
not provided
GPathogenic
ADAMTS2, ARL10
+90 more
Copy number gain
not provided
GPathogenic
DBN1, DDX41
+23 more
Copy number loss
not provided
GPathogenic
ARL10, B4GALT7
+36 more
Copy number loss
not provided
GPathogenic
ARL10, B4GALT7
+37 more
Copy number loss
not provided
GPathogenic
B4GALT7, DBN1
+13 more
Duplication
not provided
GUncertain significance
ARL10, B4GALT7
+36 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+36 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+86 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+106 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+36 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+36 more
Copy number gain
See cases
GPathogenic
BTNL9, C5orf60
+92 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
B4GALT7, CDHR2
+113 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
LMAN2, LOC121099716
+26 more
Copy number gain
See cases
GLikely pathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
B4GALT7, DBN1
+65 more
Copy number gain
See cases
GUncertain significance
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+137 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
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