"Genome-Nilou Lab"[submitter] AND "NADSYN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248202	NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu)	NADSYN1 (V74L)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 1321836	NM_018161.5(NADSYN1):c.264-26A>G	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321837	NM_018161.5(NADSYN1):c.317+22C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321838	NM_018161.5(NADSYN1):c.408-21C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321839	NM_018161.5(NADSYN1):c.408-18C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321840	NM_018161.5(NADSYN1):c.612A>C (p.Gln204His)	NADSYN1 (Q204H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1229671	NM_018161.5(NADSYN1):c.705T>C (p.Cys235=)	NADSYN1	Single nucleotide variant (synonymous variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 1264964	NM_018161.5(NADSYN1):c.744T>C (p.Ile248=)	NADSYN1	Single nucleotide variant (synonymous variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 1321841	NM_018161.5(NADSYN1):c.799-5T>C	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar