C0039373[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100728	NM_000405.5(GM2A):c.333del (p.Cys112fs)	GM2A (C112fs)	Deletion (frameshift variant)	Tay-Sachs disease, variant AB	GPathogenic
Select item 3906	NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	HEXA (R504C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 3899	NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	HEXA (R499H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 553250	NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	HEXA (A246T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3931	NM_000520.6(HEXA):c.611A>G (p.His204Arg)	HEXA (H204R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 803106	NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser)	HEXA (Y180S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +4 more	GPathogenic/Likely pathogenic

ClinVar