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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 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
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
ADAMTS2, BTNL3
+207 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS2, BTNL3
+203 more
Copy number gain
See cases
GUncertain significance
CANX, CBY3
+85 more
Copy number loss
See cases
GLikely pathogenic
RASGEF1C
(G435D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(I421V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(D418E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R351C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(A348V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(T335M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(G293S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(N291D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R287C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(S242G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(L234R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R217W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(Q207E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(A205V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(A205S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(D200N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R167H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(A164E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(Q161E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(R149G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(H133Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(H133N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(E59K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(H49Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(T45A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(E44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(P32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(P20H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGEF1C
(M10T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5orf60, CANX
+11 more
Copy number gain
not specified
GUncertain significance
ADAMTS2, C5orf60
+27 more
Copy number gain
not specified
GUncertain significance
ZNF354A, ZNF354B
+27 more
Copy number gain
not specified
GPathogenic
CNOT6, FLT4
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, BTNL3
+34 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, C5orf60
+24 more
Copy number gain
not provided
GUncertain significance
C5orf60, CANX
+11 more
Copy number gain
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
LTC4S, MAPK9
+6 more
Copy number gain
not specified
GUncertain significance
C5orf60, CANX
+11 more
Copy number loss
not specified
GUncertain significance
ADAMTS2, C5orf60
+27 more
Copy number gain
not specified
GUncertain significance
ADAMTS2, ARL10
+115 more
Copy number gain
5q35 microduplication syndrome
GPathogenic
CNOT6, RASGEF1C
+2 more
Copy number gain
not provided
GUncertain significance
MAPK9, GFPT2
+1 more
Copy number loss
not provided
GUncertain significance
GFPT2, MAPK9
+1 more
Copy number loss
Intellectual disability
GUncertain significance
OR2V2, TRIM7
+22 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, BTNL3
+30 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, B4GALT7
+59 more
Copy number gain
not provided
GPathogenic
MGAT4B, MRNIP
+9 more
Copy number gain
Sensorineural hearing loss disorder
GUncertain significance
ADAMTS2, B4GALT7
+80 more
Duplication
not provided
GLikely pathogenic
ADAMTS2, ARL10
+90 more
Copy number gain
not provided
GPathogenic
ADAMTS2, BTNL3
+43 more
Copy number loss
not provided
GLikely pathogenic
GFPT2, SQSTM1
+8 more
Copy number gain
not provided
GUncertain significance
C5orf60, CANX
+11 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, BTNL3
+50 more
Copy number loss
not provided
GUncertain significance
ADAMTS2, BTNL3
+48 more
Copy number gain
See cases
GUncertain significance
ADAMTS2, ARL10
+86 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+106 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
MRNIP, RASGEF1C
+2 more
Copy number gain
See cases
GLikely benign
BTNL9, C5orf60
+92 more
Copy number loss
See cases
GPathogenic
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