"SIB Swiss Institute of Bioinformatics"[submitter] AND "HAAO"[gene] - ClinVar

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	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)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GPathogenic
Select item 403727	NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	HAAO (D162*)	Duplication (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GPathogenic