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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
DIRAS1
(R181G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIRAS1
(A145S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIRAS1
(K102Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DIRAS1
(V88I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DIRAS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DIRAS1
(V11M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBA3, ATCAY
+42 more
Deletion
RASopathy
GUncertain significance
DIRAS1, GADD45B
+13 more
Duplication
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ABHD17A, ADAMTSL5
+80 more
Duplication
not provided
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
DIRAS1, GADD45B
+15 more
Copy number gain
See cases
GUncertain significance
ABCA7, ABHD17A
+138 more
Copy number gain
See cases
GPathogenic
ADAMTSL5, PLEKHJ1
+106 more
Copy number gain
not provided
GPathogenic
DIRAS1, GADD45B
+10 more
Copy number loss
not provided
GUncertain significance
ABCA7, ABHD17A
+147 more
Copy number gain
not provided
GPathogenic
AP3D1, SPPL2B
+64 more
Duplication
Neurodevelopmental disorder
GUncertain significance
ATCAY, CACTIN
+50 more
Deletion
Internal malformations
GUncertain significance
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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