"OMIM"[submitter] AND "HMOX1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326850	NM_002133.3(HMOX1):c.130C>T (p.Arg44Ter)	HMOX1 (R44*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1326853	NM_002133.3(HMOX1):c.262_268delinsCC (p.Ala88fs)	HMOX1 (A88fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 15896	NM_002133.3(HMOX1):c.324_325del (p.Pro109fs)	HMOX1 (P109fs)	Microsatellite (frameshift variant)	Heme oxygenase 1 deficiency	GPathogenic
Select item 1326851	NM_002133.3(HMOX1):c.416G>T (p.Gly139Val)	HMOX1	Single nucleotide variant (missense variant)	Heme oxygenase 1 deficiency	GPathogenic
Select item 1326852	NM_002133.3(HMOX1):c.610A>T (p.Lys204Ter)	HMOX1 (K204*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1184829	NM_002133.3(HMOX1):c.636+2T>A	HMOX1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 15897	NG_023030.1:g.4769GT[30_?]	HMOX1	Microsatellite	Pulmonary disease, chronic obstructive, susceptibility to	Grisk factor
Select item 15895	NM_002133.3(HMOX1):c.24_144del	HMOX1	Deletion (splice acceptor variant)	Heme oxygenase 1 deficiency	GPathogenic

ClinVar