"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931844	NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)	HMBS (G5S)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria	GUncertain significance
Select item 374084	NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)	HMBS	Deletion (nonsense)	Vomiting +5 more	GPathogenic
Select item 1486	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)	HMBS (R149* +1 more)	Single nucleotide variant (nonsense)	Acute intermittent porphyria +1 more	GPathogenic
Select item 649348	NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)	HMBS (R173W +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GPathogenic/Likely pathogenic
Select item 931455	NM_000190.4(HMBS):c.613-1G>A	HMBS	Single nucleotide variant (splice acceptor variant)	Acute intermittent porphyria	GPathogenic
Select item 373971	NM_000190.4(HMBS):c.958del (p.Ala320fs)	HMBS (A320fs +3 more)	Deletion (frameshift variant)	Elevated urinary delta-aminolevulinic acid +3 more	GLikely pathogenic

ClinVar