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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+275 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
GIN1
(T239M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
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