"GeneDx"[submitter] AND "HAAO"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 1704828	NM_012205.3(HAAO):c.681C>T (p.Asp227=)	HAAO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2503399	NM_012205.3(HAAO):c.383T>C (p.Phe128Ser)	HAAO (F128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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

ClinVar