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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
DNAH10, DNAH10OS
(E3924Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH10, DNAH10OS
(I4084T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH10, DNAH10OS
(I4194fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
DNAH10, DNAH10OS
(G4445E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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