C1861678[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 917115	NM_001365951.3(KIF1B):c.4753-20C>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GBenign/Likely benign

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