C0039373[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892	NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	HEXA (E482K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 3890	NM_000520.6(HEXA):c.1421+1G>C	HEXA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 3920	NM_000520.6(HEXA):c.1073+1G>A	HEXA	Single nucleotide variant (splice donor variant)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
Select item 3898	NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	HEXA (G269S +1 more)	Single nucleotide variant (missense variant +1 more)	HEXA-related condition +3 more	GPathogenic/Likely pathogenic
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 453185	NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	HEXA (W78*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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