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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
SSTR5
(L48M)
Single nucleotide variant
(missense variant)
not provided
GBenign
SSTR5
(P335L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC154, CCDC78
+61 more
Copy number loss
See cases
GPathogenic
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