"GeneReviews"[submitter] AND "KIF1A"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65875	NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs)	KIF1A (S1656fs +15 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 2C +1 more	GPathogenic
Select item 65859	NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)	KIF1A (L947fs +3 more)	Deletion (frameshift variant +1 more)	Neuropathy, hereditary sensory, type 2C +2 more	GPathogenic