Related gene-specific medical variations for Gene (Select 26873) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2916754	NM_017570.5(OPLAH):c.1423-5C>T	MIR6846, OPLAH	Single nucleotide variant (non-coding transcript variant +1 more)	5-Oxoprolinase deficiency	GLikely benign
Select item 2690663	NM_017570.5(OPLAH):c.2686+1G>T	OPLAH	Single nucleotide variant (splice donor variant)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 2690662	NM_017570.5(OPLAH):c.169C>T (p.Gln57Ter)	OPLAH (Q57*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 2434514	NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)	OPLAH (Q164R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2432374	NM_017570.5(OPLAH):c.3019-2A>G	OPLAH	Single nucleotide variant (splice acceptor variant)	5-Oxoprolinase deficiency	GLikely pathogenic
Select item 1324831	NM_017570.5(OPLAH):c.893C>G (p.Ser298Ter)	OPLAH (S298*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GLikely pathogenic

ClinVar