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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLVCR2, FLVCR2-AS1
(L64fs)
Deletion
(non-coding transcript variant +1 more)
Fowler syndrome
GLikely pathogenic
FLVCR2
Single nucleotide variant
(intron variant)
Fowler syndrome
GUncertain significance