"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC129388 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287755	NM_001365951.3(KIF1B):c.-5T>C	KIF1B, LOC129388446	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1444802	NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)	KIF1B, LOC129388446 (S2L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2448744	NM_001365951.3(KIF1B):c.69A>G (p.Glu23=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 696714	NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GLikely benign
Select item 216686	NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)	KIF1B, LOC129388446 (Q29E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1130095	NM_001365951.3(KIF1B):c.106+10T>A	KIF1B, LOC129388446	Single nucleotide variant (intron variant)	KIF1B-related disorder +1 more	GLikely benign

ClinVar