C4540004[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285319	NM_012205.3(HAAO):c.630+34C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GBenign
Select item 1285320	NM_012205.3(HAAO):c.440+19C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GBenign
Select item 1285321	NM_012205.3(HAAO):c.124A>T (p.Thr42Ser)	HAAO (T42S)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GBenign
Select item 1285322	NM_012205.3(HAAO):c.109A>G (p.Ile37Val)	HAAO (I37V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GBenign
Select item 1285323	NM_012205.3(HAAO):c.81-10C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GBenign

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