ClinVar for Gene (Select 637) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2684925	GRCh37/hg19 22q11.21(chr22:18253057-18649190)x3	BID, MICAL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2591609	NM_001196.4(BID):c.308C>T (p.Pro103Leu)	BID (P149L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552476	NM_001196.4(BID):c.-59+723G>T	BID (R11L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521429	NM_001196.4(BID):c.263G>A (p.Arg88Lys)	BID (R134K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	BID, CECR2 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2489568	NM_001196.4(BID):c.385A>G (p.Thr129Ala)	BID (T129A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2486823	NM_001196.4(BID):c.317T>G (p.Val106Gly)	BID (V10G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	Immunodeficiency 51 +1 more	GPathogenic
Select item 2394869	NM_001196.4(BID):c.100C>T (p.Arg34Cys)	BID (R80C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2385882	NM_001196.4(BID):c.488C>T (p.Thr163Met)	BID (T209M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385140	NM_001196.4(BID):c.500T>C (p.Leu167Pro)	BID (L213P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358567	NM_001196.4(BID):c.-23G>A	BID (R39Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2289577	NM_001196.4(BID):c.178G>A (p.Asp60Asn)	BID (D106N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274938	NM_001196.4(BID):c.-33G>A	BID (G36R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248391	NM_001196.4(BID):c.547C>T (p.Arg183Cys)	BID (R183C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244851	NM_001196.4(BID):c.305C>T (p.Pro102Leu)	BID (P102L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214941	NM_001196.4(BID):c.250C>T (p.Arg84Trp)	BID (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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	ADA2, ATP6V1E1 +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)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +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	ADA2, ATP6V1E1 +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
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	LOC130066953, LOC130066954 +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	ADA2, ARVCF +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067011, LOC130067012 +535 more	Copy number gain	See cases	GPathogenic
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	ADA2, AIFM3 +292 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 85