"3billion"[submitter] AND "KYNU"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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