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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
ARL10, BOD1
+131 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
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
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
ARL10, LOC129995333
(L9V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, LOC129995333
(R42P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, LOC129995333
(E44D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(P70L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(V80M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(V82M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(F93C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(E123Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(I129T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(Y138C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(E145K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(V181I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(M193R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10
(I220V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, NOP16
(K174Q +2 more)
Single nucleotide variant
(synonymous variant +3 more)
not specified
GUncertain significance
ARL10, NOP16
(L170V +1 more)
Single nucleotide variant
(synonymous variant +4 more)
not specified
GUncertain significance
ARL10, NOP16
(S169Y +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ARL10, NOP16
(R144W +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, NOP16
(Q142E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, NOP16
(D131G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, NOP16
(R130H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, NOP16
(W99* +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, NOP16
(R115H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, NOP16
(K106N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, NOP16
(L81P +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, LOC126807615
+1 more
(R69L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, LOC126807615
+1 more
(R45W +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(P9T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(S25N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(R30S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARL10, HIGD2A
+1 more
(E33A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(R44H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(E45Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, HIGD2A
+1 more
(P47L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL10, CLTB
(A111T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, CLTB
(R104H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, CLTB
(Y87H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL10, B4GALT7
+37 more
Copy number loss
not provided
GPathogenic
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
CANX, CBY3
+63 more
Duplication
not provided
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
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