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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869157	NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)	NADSYN1 (C49R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic
Select item 1309754	NM_018161.5(NADSYN1):c.271del (p.Met91fs)	NADSYN1 (M91fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2342520	NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)	NADSYN1 (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 869158	NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu)	NADSYN1 (W132L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699308	NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)	NADSYN1 (C175Y)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 834713	NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)	NADSYN1 (C245*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 2575904	NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)	NADSYN1 (A363V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 998169	NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	NADSYN1 (R487*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 834710	NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	NADSYN1 (A573T)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 2575903	NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)	NADSYN1 (D587N)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 2442205	NM_018161.5(NADSYN1):c.1765-7T>A	NADSYN1	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GConflicting classifications of pathogenicity
Select item 834711	NM_018161.5(NADSYN1):c.1819del (p.Val607fs)	NADSYN1 (V607fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 834715	NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)	NADSYN1 (Y613*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic