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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PABIR3
(G91R)
Single nucleotide variant
(intron variant +2 more)
not provided
GLikely benign
PABIR3
(Q203R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PABIR3
(C147R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TMEM31, TMEM35A
+488 more
Copy number gain
not provided
GPathogenic
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