ClinVar for Gene (Select 23786) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260653	NM_015367.4(BCL2L13):c.461T>C (p.Leu154Ser)	BCL2L13 (L154S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3260652	NM_015367.4(BCL2L13):c.1291A>G (p.Lys431Glu)	BCL2L13 (K151E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260651	NM_015367.4(BCL2L13):c.1452G>T (p.Lys484Asn)	BCL2L13 (K204N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260650	NM_015367.4(BCL2L13):c.292A>G (p.Ser98Gly)	BCL2L13 (S98G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3260649	NM_015367.4(BCL2L13):c.1226T>C (p.Leu409Pro)	BCL2L13 (L385P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248073	NC_000022.10:g.(?_17565982)_(18613903_?)dup	ADA2, ATP6V1E1 +11 more	Duplication	not provided	GUncertain significance
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3133414	NM_015367.4(BCL2L13):c.832C>G (p.Gln278Glu)	BCL2L13 (Q116E +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3133413	NM_015367.4(BCL2L13):c.566A>G (p.Tyr189Cys)	BCL2L13 (Y189C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133412	NM_015367.4(BCL2L13):c.508C>T (p.Arg170Cys)	BCL2L13 (R170C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133411	NM_015367.4(BCL2L13):c.410G>A (p.Arg137Gln)	BCL2L13 (R137Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133410	NM_015367.4(BCL2L13):c.409C>G (p.Arg137Gly)	BCL2L13 (R137G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133408	NM_015367.4(BCL2L13):c.1354A>G (p.Met452Val)	BCL2L13 (M172V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133407	NM_015367.4(BCL2L13):c.1334C>G (p.Pro445Arg)	BCL2L13 (P165R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133406	NM_015367.4(BCL2L13):c.1307C>A (p.Pro436Gln)	BCL2L13 (P156Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133405	NM_015367.4(BCL2L13):c.1201G>A (p.Ala401Thr)	BCL2L13 (A401T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3133404	NM_015367.4(BCL2L13):c.102A>C (p.Gln34His)	BCL2L13 (Q34H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3062457	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3	ADA2, ATP6V1E1 +13 more	Copy number gain	not specified	GPathogenic
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2620765	NM_015367.4(BCL2L13):c.1120A>G (p.Thr374Ala)	BCL2L13 (T212A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610789	NM_015367.4(BCL2L13):c.165T>G (p.Ile55Met)	BCL2L13 (I55M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2607746	NM_015367.4(BCL2L13):c.1246G>C (p.Ala416Pro)	BCL2L13 (A136P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545120	NM_015367.4(BCL2L13):c.1015C>G (p.Pro339Ala)	BCL2L13 (P177A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537909	NM_015367.4(BCL2L13):c.1177A>G (p.Thr393Ala)	BCL2L13 (T417A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512106	NM_015367.4(BCL2L13):c.403G>C (p.Ala135Pro)	BCL2L13 (A135P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2489002	NM_015367.4(BCL2L13):c.1040C>T (p.Pro347Leu)	BCL2L13 (P185L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461990	NM_015367.4(BCL2L13):c.1399G>A (p.Ala467Thr)	BCL2L13 (A305T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460019	NM_015367.4(BCL2L13):c.676A>G (p.Ile226Val)	BCL2L13 (I202V +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2424215	NC_000022.10:g.(?_17565982)_(18613903_?)del	ADA2, ATP6V1E1 +11 more	Deletion	not provided	GUncertain significance
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 2399990	NM_015367.4(BCL2L13):c.682C>A (p.Pro228Thr)	BCL2L13 (C156* +4 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2395147	NM_015367.4(BCL2L13):c.793G>C (p.Glu265Gln)	BCL2L13 (E241Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2377177	NM_015367.4(BCL2L13):c.1380A>G (p.Ile460Met)	BCL2L13 (I180M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372064	NM_015367.4(BCL2L13):c.1358C>T (p.Pro453Leu)	BCL2L13 (P429L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362596	NM_015367.4(BCL2L13):c.257A>G (p.His86Arg)	BCL2L13 (H86R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2361589	NM_015367.4(BCL2L13):c.1288G>A (p.Glu430Lys)	BCL2L13 (E150K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357313	NM_015367.4(BCL2L13):c.320T>G (p.Leu107Arg)	BCL2L13 (L107R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2341467	NM_015367.4(BCL2L13):c.343C>G (p.Leu115Val)	BCL2L13 (L115V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2320058	NM_015367.4(BCL2L13):c.1220C>T (p.Thr407Met)	BCL2L13 (T407M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2317531	NM_015367.4(BCL2L13):c.869A>G (p.Asp290Gly)	BCL2L13 (D128G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308111	NM_015367.4(BCL2L13):c.1022C>A (p.Ala341Asp)	BCL2L13 (A317D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292742	NM_015367.4(BCL2L13):c.1342G>A (p.Glu448Lys)	BCL2L13 (E424K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279683	NM_015367.4(BCL2L13):c.757C>T (p.Pro253Ser)	BCL2L13 (P229S +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2239964	NM_015367.4(BCL2L13):c.1106A>G (p.Lys369Arg)	BCL2L13 (K207R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204321	NM_015367.4(BCL2L13):c.1300G>A (p.Val434Met)	BCL2L13 (V154M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808457	GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	ADA2, ATP6V1E1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 1807693	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3	ADA2, ATP6V1E1 +17 more	Copy number gain	not provided	GPathogenic
Select item 1807686	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4	BCL2L13, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1676305	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4	HDHD5, IL17RA +15 more	Copy number gain	Cat eye syndrome	GPathogenic
Select item 1321995	GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	TMEM121B, ADA2 +15 more	Copy number gain	See cases	GPathogenic
Select item 1274797	NC_000022.11:g.17629087C>A	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 1253201	NC_000022.11:g.17629002T>C	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 1246668	NC_000022.11:g.17629076T>C	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GBenign
Select item 1193481	NC_000022.11:g.17629043A>G	ATP6V1E1, BCL2L13	Single nucleotide variant	not provided	GLikely benign
Select item 988911	GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	ADA2, AIFM3 +62 more	Copy number gain	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 816195	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	CCT8L2, BCL2L13 +15 more	Copy number gain	not provided	GPathogenic
Select item 816193	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1	ADA2, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 816192	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4	TUBA8, USP18 +17 more	Copy number gain	not provided	GPathogenic
Select item 816191	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3	TMEM121B, ADA2 +14 more	Copy number gain	not provided	GPathogenic
Select item 816190	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1	CECR3, HIRA +42 more	Copy number loss	not provided	GPathogenic
Select item 788925	NM_015367.4(BCL2L13):c.137T>C (p.Ile46Thr)	BCL2L13 (I46T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 777662	NM_015367.4(BCL2L13):c.571G>T (p.Ala191Ser)	BCL2L13 (G79V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 686107	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 684996	GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 655211	NC_000022.10:g.(?_17565962)_(18570861_?)dup	PEX26, HDHD5 +10 more	Duplication	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 635901	Single allele	ADA2, ARVCF +43 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 565046	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	TRMT2A, MRPL40 +44 more	Copy number gain	not provided	GPathogenic
Select item 565026	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3	SLC25A18, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 446351	GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4	ADA2, ATP6V1E1 +19 more	Copy number gain	See cases	GPathogenic
Select item 443783	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1	ADA2, ARVCF +38 more	Copy number loss	See cases	GPathogenic
Select item 443782	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300)	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 443578	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 442773	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3	ADA2, ARVCF +44 more	Copy number gain	See cases	GPathogenic
Select item 442367	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 441973	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)	ADA2, ATP6V1E1 +17 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 268068	GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4	RTL10, RTN4R +62 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic

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