C3669395[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11529	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	ARSL (W581* +3 more)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GPathogenic/Likely pathogenic
Select item 11528	NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)	ARSL (P578S +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 21032	NM_000047.3(ARSL):c.1442C>T (p.Thr481Met)	ARSL (T481M +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	Gnot provided
Select item 21033	NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	ARSL (G137A +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GConflicting classifications of pathogenicity
Select item 11525	NM_000047.3(ARSL):c.410G>T (p.Gly137Val)	ARSL (G137V +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 21031	NM_000047.3(ARSL):c.119T>G (p.Ile40Ser)	ARSL (I40S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1	Gnot provided

ClinVar