ClinVar for MedGen (Select 1624065) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065178	NM_003937.3(KYNU):c.1303G>A (p.Val435Met)	KYNU (V435M)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2	GUncertain significance
Select item 2578427	NM_003937.3(KYNU):c.865T>C (p.Phe289Leu)	KYNU (F289L)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2	GUncertain significance
Select item 1695427	NM_003937.3(KYNU):c.374-433_435+369del	KYNU	Deletion (splice acceptor variant +1 more)	Vertebral, cardiac, renal, and limb defects syndrome 2	GPathogenic
Select item 1333644	NM_003937.3(KYNU):c.902+1G>A	KYNU	Single nucleotide variant (splice donor variant)	Vertebral, cardiac, renal, and limb defects syndrome 2	GLikely pathogenic
Select item 1333406	NM_003937.3(KYNU):c.455C>T (p.Thr152Met)	KYNU (T152M)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GUncertain significance
Select item 1324639	NM_003937.3(KYNU):c.256dup (p.Tyr86fs)	KYNU (Y86fs)	Duplication (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1300104	NM_003937.3(KYNU):c.955+26C>T	KYNU	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 988092	NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)	KYNU (S345R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988091	NM_003937.3(KYNU):c.361_363del (p.Lys121del)	KYNU (K121del)	Deletion (inframe_deletion)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988090	NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)	KYNU (E206K)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 988089	NM_003937.3(KYNU):c.788A>G (p.His263Arg)	KYNU (H263R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GPathogenic
Select item 403731	NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)	KYNU (F349fs)	Deletion (frameshift variant)	Congenital NAD deficiency disorder +2 more	GPathogenic
Select item 403730	NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)	KYNU (Y156*)	Single nucleotide variant (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 403729	NM_003937.3(KYNU):c.170-1G>T	KYNU	Single nucleotide variant (splice acceptor variant)	Congenital NAD deficiency disorder	GPathogenic
Select item 160356	NM_003937.3(KYNU):c.563G>A (p.Arg188Gln)	KYNU (R188Q)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 2 +1 more	GUncertain significance