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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
ORMDL2
(N13K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(H34R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(M35V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ORMDL2
(M35I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(N53H)
Single nucleotide variant
(missense variant)
not provided
GBenign
ORMDL2
(T66M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(R99H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(S105C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(R146C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ORMDL2
(R146H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BLOC1S1, CD63
+16 more
Copy number gain
not provided
GUncertain significance
BLOC1S1, CD63
+25 more
Copy number gain
not specified
GUncertain significance
AGAP2, ANKRD52
+105 more
Copy number gain
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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