"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126805 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696859	NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 3030496	NM_001365951.3(KIF1B):c.2811G>A (p.Glu937=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	KIF1B-related disorder	GLikely benign
Select item 543173	NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)	KIF1B, LOC126805614 (A897T +1 more)	Single nucleotide variant (missense variant)	KIF1B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1795018	NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	KIF1B-related disorder +2 more	GLikely benign

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