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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRIP1
(R798*)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic
BRIP1, INTS2
+5 more
Copy number loss
Diaphragmatic hernia
GUncertain significance