6469[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	ARHGAP15, ARHGAP15-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	See cases	GPathogenic
Select item 148593	GRCh38/hg38 2q22.1-22.2(chr2:140659197-142948096)x3	KYNU, LOC111556162 +11 more	Copy number gain	See cases	GUncertain significance
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 155578	GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3	ARHGAP15, KYNU +6 more	Copy number gain	See cases	GLikely benign
Select item 978267	NC_000002.12:g.142877008_142961693del	KYNU, LOC126806361 +1 more	Deletion	Catel-Manzke syndrome	GPathogenic
Select item 3352866	NM_003937.3(KYNU):c.-7A>T	KYNU	Single nucleotide variant (5 prime UTR variant)	KYNU-related disorder	GLikely benign
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 799097	NM_003937.3(KYNU):c.60C>T (p.Leu20=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789880	NM_003937.3(KYNU):c.74C>T (p.Thr25Met)	KYNU (T25M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 727204	NM_003937.3(KYNU):c.121C>T (p.His41Tyr)	KYNU (H41Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785012	NM_003937.3(KYNU):c.123C>T (p.His41=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 403729	NM_003937.3(KYNU):c.170-1G>T	KYNU	Single nucleotide variant (splice acceptor variant)	Congenital NAD deficiency disorder	GPathogenic
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 758737	NM_003937.3(KYNU):c.195T>C (p.Asp65=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 729579	NM_003937.3(KYNU):c.291-7A>G	KYNU	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 721468	NM_003937.3(KYNU):c.303T>C (p.Gly101=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 978270	NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)	KYNU (W109S)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome	GPathogenic
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 2632261	NM_003937.3(KYNU):c.373_373+3del	KYNU	Deletion (splice donor variant)	KYNU-related disorder	GLikely pathogenic
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 1701801	NM_003937.3(KYNU):c.374-2A>G	KYNU	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1333406	NM_003937.3(KYNU):c.455C>T (p.Thr152Met)	KYNU (T152M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2584440	NM_003937.3(KYNU):c.510T>A (p.Tyr170Ter)	KYNU (Y170*)	Single nucleotide variant (nonsense)	KYNU-related disorder	GLikely pathogenic
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 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
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 711853	NM_003937.3(KYNU):c.585G>A (p.Gly195=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 160355	NM_003937.3(KYNU):c.592A>G (p.Thr198Ala)	KYNU (T198A)	Single nucleotide variant (missense variant)	Hydroxykynureninuria	GPathogenic
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 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 3117212	NM_003937.3(KYNU):c.650T>C (p.Val217Ala)	KYNU (V217A)	Single nucleotide variant (missense variant)	not specified	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 711344	NM_003937.3(KYNU):c.729+9G>A	KYNU	Single nucleotide variant (intron variant)	not provided	GBenign
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 739190	NM_003937.3(KYNU):c.732T>C (p.Gly244=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682370	NM_003937.3(KYNU):c.735T>G (p.Cys245Trp)	KYNU (C245W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357978	NM_003937.3(KYNU):c.737dup (p.Tyr246Ter)	KYNU (Y246*)	Duplication (nonsense)	KYNU-related disorder	GLikely pathogenic
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 721100	NM_003937.3(KYNU):c.759T>C (p.His253=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1685366	NM_003937.3(KYNU):c.773T>C (p.Val258Ala)	KYNU (V258A)	Single nucleotide variant (missense variant)	Hydroxykynureninuria	GLikely 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 3289798	NM_003937.3(KYNU):c.818G>A (p.Cys273Tyr)	KYNU (C273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584441	NM_003937.3(KYNU):c.825C>A (p.Tyr275Ter)	KYNU (Y275*)	Single nucleotide variant (nonsense)	KYNU-related disorder	GLikely pathogenic
Select item 764744	NM_003937.3(KYNU):c.828+8C>T	KYNU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791085	NM_003937.3(KYNU):c.828+9G>A	KYNU	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2178788	NM_003937.3(KYNU):c.903-2A>C	KYNU	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1300104	NM_003937.3(KYNU):c.955+26C>T	KYNU	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2198678	NM_003937.3(KYNU):c.967del (p.Ile323fs)	KYNU (I323fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 978269	NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)	KYNU (R330Q)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome	GPathogenic
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 2689339	NM_003937.3(KYNU):c.1041G>A (p.Glu347=)	KYNU	Single nucleotide variant (synonymous 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 716760	NM_003937.3(KYNU):c.1047T>C (p.Phe349=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 798929	NM_003937.3(KYNU):c.1260A>G (p.Lys420=)	KYNU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 3289796	NM_003937.3(KYNU):c.1335T>G (p.His445Gln)	KYNU (H445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062414	GRCh37/hg19 2q22.2(chr2:143627015-143881574)x3	KYNU	Copy number gain	not specified	GUncertain significance
Select item 3024617	GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	ARHGAP15, GTDC1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1808793	GRCh37/hg19 2q22.2(chr2:143610406-143881574)x3	KYNU	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526907	GRCh37/hg19 2q22.2(chr2:143440277-143686832)	KYNU	Copy number gain	not specified	GUncertain significance
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1526903	GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	ARHGAP15, GTDC1 +5 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 974580	Single allele	ZEB2, HNMT +7 more	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 814313	GRCh37/hg19 2q22.2(chr2:142738538-143643346)x3	KYNU, LRP1B	Copy number gain	not provided	GUncertain significance
Select item 689256	GRCh37/hg19 2q22.2-22.3(chr2:143192287-144325954)x3	ARHGAP15, KYNU	Copy number gain	not provided	GUncertain significance
Select item 686427	GRCh37/hg19 2q22.2(chr2:143290896-143804910)x3	KYNU	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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