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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD6, ACOX2
+218 more
Copy number loss
See cases
GPathogenic
HTD2, HTR1F
+482 more
Copy number loss
See cases
GPathogenic
ABHD6, ACOX2
+155 more
Copy number loss
See cases
GPathogenic
ARF4, PDE12
(R97H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARF4, PDE12
(R97S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD14A, ABHD14B
+86 more
Copy number loss
not specified
GPathogenic
ABHD6, ACOX2
+15 more
Deletion
Pyruvate dehydrogenase E1-beta deficiency
GUncertain significance
ABHD6, ACOX2
+34 more
Copy number loss
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD6, ACOX2
+66 more
Copy number loss
See cases
GPathogenic
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