"Blueprint Genetics"[submitter] AND "ARSL"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224384	NM_000047.3(ARSL):c.1163G>A (p.Arg388His)	ARSL (R334H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157732	NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)	ARSL (L113F +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +1 more	GConflicting classifications of pathogenicity