"GeneDx"[submitter] AND "KYNU"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 403730	NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)	KYNU (Y156*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 988093	NM_003937.3(KYNU):c.489del (p.Ala164fs)	KYNU (A164fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3117212	NM_003937.3(KYNU):c.650T>C (p.Val217Ala)	KYNU (V217A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371276	NM_003937.3(KYNU):c.656T>C (p.Leu219Pro)	KYNU (L219P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370907	NM_003937.3(KYNU):c.890C>T (p.Thr297Met)	KYNU (T297M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 978268	NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)	KYNU (R428W)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome +1 more	GPathogenic/Likely pathogenic

ClinVar