"Embryology Laboratory, Victor Chang Cardiac Research Institute"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403728	NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	HAAO (W186*)	Single nucleotide variant (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 403727	NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	HAAO (D162*)	Duplication (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 988088	NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)	HAAO (R108Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988087	NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	HAAO (G101W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988085	NM_012205.3(HAAO):c.141C>A (p.His47Gln)	HAAO (H47Q)	Single nucleotide variant (missense variant)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 988084	NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	HAAO (R43K)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 988086	NM_012205.3(HAAO):c.43del (p.Arg15fs)	HAAO, LOC129933588 (R15fs)	Deletion (frameshift variant)	Congenital NAD deficiency disorder +1 more	GPathogenic

ClinVar