"Inherited Neuropathy Consortium"[submitter] AND "BSCL2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 641509	NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)	BSCL2, HNRNPUL2-BSCL2 (R160S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +1 more	GUncertain significance
Select item 476810	NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	BSCL2, HNRNPUL2-BSCL2 (S154W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic