ClinVar for Gene (Select 150165) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3191121	NM_001386955.1(XKR3):c.871C>T (p.Pro291Ser)	XKR3 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191120	NM_001386955.1(XKR3):c.845A>G (p.Glu282Gly)	XKR3 (E282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191119	NM_001386955.1(XKR3):c.755C>G (p.Thr252Ser)	XKR3 (T252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191118	NM_001386955.1(XKR3):c.64G>C (p.Glu22Gln)	XKR3 (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191117	NM_001386955.1(XKR3):c.626A>G (p.Tyr209Cys)	XKR3 (Y209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191116	NM_001386955.1(XKR3):c.623C>T (p.Thr208Ile)	XKR3 (T208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191115	NM_001386955.1(XKR3):c.521G>T (p.Gly174Val)	XKR3 (G174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191114	NM_001386955.1(XKR3):c.518T>A (p.Leu173His)	XKR3 (L173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062457	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3	ADA2, ATP6V1E1 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062445	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17937630)x3	ADA2, CCT8L2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685061	GRCh37/hg19 22q11.1(chr22:16888900-17635449)x4	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684924	GRCh37/hg19 22q11.1(chr22:16888900-17611140)x3	CCT8L2, GAB4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2652840	NM_001386955.1(XKR3):c.1278C>T (p.Ile426=)	XKR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622140	NM_001386955.1(XKR3):c.794T>C (p.Leu265Pro)	XKR3 (L265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609133	NM_001386955.1(XKR3):c.587G>A (p.Arg196Lys)	XKR3 (R196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549796	NM_001386955.1(XKR3):c.73C>G (p.Leu25Val)	XKR3 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520957	NM_001386955.1(XKR3):c.715G>C (p.Val239Leu)	XKR3 (V239L)	Single nucleotide variant (missense variant)	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 2464284	NM_001386955.1(XKR3):c.692C>T (p.Pro231Leu)	XKR3 (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388531	NM_001386955.1(XKR3):c.176G>A (p.Arg59Gln)	XKR3 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385443	NM_001386955.1(XKR3):c.679A>G (p.Thr227Ala)	XKR3 (T227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347225	NM_001386955.1(XKR3):c.1165G>T (p.Ala389Ser)	XKR3 (A389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297426	NM_001386955.1(XKR3):c.1270G>A (p.Val424Ile)	XKR3 (V424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278363	NM_001386955.1(XKR3):c.856A>T (p.Ser286Cys)	XKR3 (S286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278051	NM_001386955.1(XKR3):c.1255G>A (p.Ala419Thr)	XKR3 (A419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269586	NM_001386955.1(XKR3):c.833C>T (p.Ala278Val)	XKR3 (A278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267003	NM_001386955.1(XKR3):c.264C>A (p.Phe88Leu)	XKR3 (F88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234397	NM_001386955.1(XKR3):c.998A>G (p.Lys333Arg)	XKR3 (K333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218377	NM_001386955.1(XKR3):c.520G>A (p.Gly174Ser)	XKR3 (G174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809245	GRCh37/hg19 22q11.1-11.21(chr22:17034543-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808549	GRCh37/hg19 22q11.1-11.21(chr22:16888900-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808352	GRCh37/hg19 22q11.1(chr22:16888900-17597713)x3	CCT8L2, GAB4 +3 more	Copy number gain	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 1340106	GRCh37/hg19 22q11.1(chr22:16888900-17619816)x3	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340011	GRCh37/hg19 22q11.1(chr22:16964385-17358927)x1	CCT8L2, XKR3	Copy number loss	not provided	GLikely benign
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 980800	GRCh37/hg19 22q11.1(chr22:16888899-17811229)x1	ADA2, CCT8L2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 980799	GRCh37/hg19 22q11.1(chr22:16888899-17536145)x4	CCT8L2, GAB4 +1 more	Copy number gain	not provided	GLikely pathogenic
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 816194	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17948922)x3	XKR3, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
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 816189	GRCh37/hg19 22q11.1(chr22:16888899-17303481)x4	CCT8L2, XKR3	Copy number gain	not provided	GUncertain significance
Select item 816188	GRCh37/hg19 22q11.1(chr22:16888899-17309436)x3	CCT8L2, XKR3	Copy number gain	not provided	GUncertain significance
Select item 816186	GRCh37/hg19 22q11.1(chr22:16888899-17619816)x3	XKR3, TMEM121B +4 more	Copy number gain	not provided	GUncertain significance
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 685064	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17979434)x3	ADA2, CCT8L2 +7 more	Copy number gain	not provided	GUncertain significance
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 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 625581	GRCh37/hg19 22q11.1-11.21(chr22:17289827-17938918)	ADA2, CECR3 +5 more	Copy number gain	Cat eye syndrome	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 565003	GRCh37/hg19 22q11.1(chr22:16888899-17464771)x3	CCT8L2, XKR3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565000	GRCh37/hg19 22q11.1(chr22:16888899-17303480)x3	XKR3, CCT8L2	Copy number gain	not provided	GUncertain significance
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 442174	GRCh37/hg19 22q11.1(chr22:16888899-17669306)x4	ADA2, CCT8L2 +5 more	Copy number gain	See cases	GUncertain significance
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 153998	GRCh38/hg38 22q11.1(chr22:16408173-17154559)x4	CCT8L2, CECR7 +30 more	Copy number gain	See cases	GUncertain significance
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 145115	GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3	CCT8L2, GAB4 +3 more	Copy number gain	See cases	GBenign
Select item 145110	GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3	XKR3	Copy number gain	See cases	GBenign/Likely benign
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

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Links from Gene

Items: 93