"Ambry Genetics"[submitter] AND "KYNU"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515863	NM_003937.3(KYNU):c.26C>T (p.Pro9Leu)	KYNU (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117211	NM_003937.3(KYNU):c.44G>A (p.Arg15His)	KYNU (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486415	NM_003937.3(KYNU):c.85G>A (p.Val29Met)	KYNU (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282461	NM_003937.3(KYNU):c.127A>G (p.Arg43Gly)	KYNU (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289799	NM_003937.3(KYNU):c.136T>C (p.Phe46Leu)	KYNU (F46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274611	NM_003937.3(KYNU):c.142A>T (p.Ile48Phe)	KYNU (I48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117210	NM_003937.3(KYNU):c.170T>C (p.Val57Ala)	KYNU (V57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540973	NM_003937.3(KYNU):c.199A>G (p.Asn67Asp)	KYNU (N67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2594720	NM_003937.3(KYNU):c.518A>G (p.Glu173Gly)	KYNU (E173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289794	NM_003937.3(KYNU):c.548T>C (p.Ile183Thr)	KYNU (I183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347244	NM_003937.3(KYNU):c.562C>T (p.Arg188Trp)	KYNU (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362445	NM_003937.3(KYNU):c.574C>G (p.Pro192Ala)	KYNU (P192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289797	NM_003937.3(KYNU):c.580G>A (p.Glu194Lys)	KYNU (E194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290342	NM_003937.3(KYNU):c.601A>G (p.Ile201Val)	KYNU (I201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3117213	NM_003937.3(KYNU):c.725C>T (p.Ala242Val)	KYNU (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117214	NM_003937.3(KYNU):c.731G>T (p.Gly244Val)	KYNU (G244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518870	NM_003937.3(KYNU):c.758A>G (p.His253Arg)	KYNU (H253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117215	NM_003937.3(KYNU):c.764T>C (p.Val255Ala)	KYNU (V255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289798	NM_003937.3(KYNU):c.818G>A (p.Cys273Tyr)	KYNU (C273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482459	NM_003937.3(KYNU):c.845C>T (p.Ala282Val)	KYNU (A282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117216	NM_003937.3(KYNU):c.946A>G (p.Met316Val)	KYNU (M316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289795	NM_003937.3(KYNU):c.1072C>T (p.Arg358Trp)	KYNU (R358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568781	NM_003937.3(KYNU):c.1073G>A (p.Arg358Gln)	KYNU (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536155	NM_003937.3(KYNU):c.1168A>G (p.Ile390Val)	KYNU (I390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117206	NM_003937.3(KYNU):c.1178C>T (p.Pro393Leu)	KYNU (P393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117207	NM_003937.3(KYNU):c.1207C>A (p.Leu403Ile)	KYNU (L403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117208	NM_003937.3(KYNU):c.1232A>G (p.Asn411Ser)	KYNU (N411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289796	NM_003937.3(KYNU):c.1335T>G (p.His445Gln)	KYNU (H445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30