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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
G3BP1
(Y56C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
G3BP1
(A115P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(A121T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(G139C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(E152V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(S170Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(H186R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(A223G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(S231Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(P261S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(P282S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
G3BP1
(E329G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
G3BP1
(R331Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(S339N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
G3BP1
(I371V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
G3BP1
(P446L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATOX1, FAT2
+7 more
Duplication
Hereditary hyperekplexia
GUncertain significance
GLRA1, ATOX1
+3 more
Duplication
not provided
GUncertain significance
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
HARS1, HARS2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 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
G3BP1
(G449fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
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