C3150878[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 33	NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)	HOGA1 (R70P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 31	NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)	HOGA1 (R97C)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 32	NM_138413.4(HOGA1):c.700+4G>T	HOGA1	Single nucleotide variant (intron variant)	Primary hyperoxaluria type 3	GPathogenic
Select item 34	NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)	HOGA1 (C257G +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GPathogenic/Likely pathogenic
Select item 625169	NM_138413.4(HOGA1):c.834_834+1delinsTT	HOGA1	Indel (splice donor variant)	not provided	GPathogenic
Select item 204286	NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GPathogenic/Likely pathogenic
Select item 30	NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)	HOGA1 (G287V +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GPathogenic/Likely pathogenic
Select item 29	NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)	HOGA1 (E315del +1 more)	Microsatellite (inframe_deletion)	Primary hyperoxaluria type 3 +2 more	GPathogenic

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