U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA1191
(M182I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(R62H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(R29W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, B4GALT7
+37 more
Copy number loss
not provided
GPathogenic
KIAA1191
(R28H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(K215E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(S78N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(V34I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARL10, B4GALT7
+38 more
Copy number loss
not provided
GPathogenic
ARL10, ATP6V0E1
+37 more
Copy number loss
not provided
GPathogenic
FAM193B, GPRIN1
+36 more
Deletion
not provided
GPathogenic
KIAA1191
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KIAA1191
(D216G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(R176C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(R43C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(A224T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(V104A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIAA1191
(R257L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(P302L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS2, ARL10
+63 more
Duplication
not provided
GUncertain significance
KIAA1191
(T114I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(D185G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(Q266H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(P38T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(E147D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(P150A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIAA1191
(R181Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
KIAA1191
(R28S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS2, ARL10
+117 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ARL10, CDHR2
+11 more
Copy number gain
not provided
GUncertain significance
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
CDHR2, CLTB
+38 more
Copy number loss
Sotos syndrome
GPathogenic
ARL10, KIAA1191
+2 more
Copy number loss
not provided
GUncertain significance
ARL10, B4GALT7
+36 more
Copy number gain
not provided
GPathogenic
ADAMTS2, ARL10
+90 more
Copy number gain
not provided
GPathogenic
TSPAN17, EIF4E1B
+14 more
Copy number loss
not provided
GUncertain significance
SIMC1, CLTB
+4 more
Copy number loss
not provided
GLikely benign
ARL10, B4GALT7
+36 more
Copy number loss
not provided
GPathogenic
ARL10, B4GALT7
+37 more
Copy number loss
not provided
GPathogenic
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
DHFR, DHX29
+738 more
Copy number loss
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
ARL10, BOD1
+131 more
Copy number gain
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
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
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
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination