"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208815	NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	HGSNAT (R124W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity