"Genome-Nilou Lab"[submitter] AND "ARSL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157730	NM_000047.3(ARSL):c.1692C>T (p.Asn564=)	ARSL	Single nucleotide variant (synonymous variant)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 157728	NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)	ARSL (G424S +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 1175208	NM_000047.3(ARSL):c.1127-141GA[10]	ARSL	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 667510	NM_000047.3(ARSL):c.992-219C>G	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 513003	NM_000047.3(ARSL):c.430+8C>T	ARSL	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign
Select item 157729	NM_000047.3(ARSL):c.157A>G (p.Ile53Val)	ARSL (I53V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1 +4 more	GBenign
Select item 157737	NM_000047.3(ARSL):c.78A>G (p.Ala26=)	ARSL	Single nucleotide variant (synonymous variant +1 more)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 1192478	NM_000047.3(ARSL):c.24-26C>T	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar