C0162565[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627478	NM_000190.4(HMBS):c.88-27_88-12del	HMBS	Deletion (intron variant)	Acute intermittent porphyria	GUncertain significance
Select item 2585451	NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)	HMBS	Deletion (inframe_deletion)	Acute intermittent porphyria	GUncertain significance
Select item 1445	NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)	HMBS (R116W +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GPathogenic
Select item 372379	NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	HMBS (D161N +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 2583183	NM_000190.4(HMBS):c.815del (p.Lys272fs)	HMBS (K215fs +3 more)	Deletion (frameshift variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 880034	NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)	HMBS (P292S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Acute intermittent porphyria +6 more	GConflicting classifications of pathogenicity

ClinVar