C5394466[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1280097	NM_003104.6(SORD):c.266-35C>T	SORD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1229011	NM_003104.6(SORD):c.806A>C (p.Asn269Thr)	SORD (N269T)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +1 more	GBenign
Select item 1261613	NM_003104.6(SORD):c.908+11C>T	SORD	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +1 more	GBenign

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