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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
(H610P)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
RPGRIP1L
(N241fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+1 more
GPathogenic