TMEM121B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	ADA2, ATP6V1E1 +112 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 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	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 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	BID, CECR2 +105 more	Copy number gain	Anomalous pulmonary venous return	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 148255	GRCh38/hg38 22q11.1-11.21(chr22:16916608-17459881)x3	ADA2, CECR2 +45 more	Copy number gain	See cases	GLikely benign
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 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
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 2541130	NM_031890.4(TMEM121B):c.1678G>A (p.Glu560Lys)	TMEM121B (E560K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178495	NM_031890.4(TMEM121B):c.1667A>G (p.His556Arg)	TMEM121B (H201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178494	NM_031890.4(TMEM121B):c.1643C>A (p.Pro548His)	TMEM121B (P548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178493	NM_031890.4(TMEM121B):c.1634C>T (p.Pro545Leu)	TMEM121B (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178492	NM_031890.4(TMEM121B):c.1588G>C (p.Ala530Pro)	TMEM121B (A175P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178491	NM_031890.4(TMEM121B):c.1564G>A (p.Gly522Ser)	TMEM121B (G167S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178490	NM_031890.4(TMEM121B):c.1562G>A (p.Arg521Gln)	TMEM121B (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178489	NM_031890.4(TMEM121B):c.1429G>A (p.Val477Met)	TMEM121B (V122M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513709	NM_031890.4(TMEM121B):c.1335G>C (p.Glu445Asp)	TMEM121B (E445D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178487	NM_031890.4(TMEM121B):c.1256C>G (p.Pro419Arg)	TMEM121B (P64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605649	NM_031890.4(TMEM121B):c.1234C>G (p.Leu412Val)	TMEM121B (L57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178486	NM_031890.4(TMEM121B):c.1193G>A (p.Gly398Asp)	TMEM121B (G43D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178485	NM_031890.4(TMEM121B):c.1166G>T (p.Arg389Leu)	TMEM121B (R34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178484	NM_031890.4(TMEM121B):c.1145C>T (p.Pro382Leu)	TMEM121B (P27L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178483	NM_031890.4(TMEM121B):c.1144C>T (p.Pro382Ser)	TMEM121B (P27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178482	NM_031890.4(TMEM121B):c.1129C>T (p.Pro377Ser)	TMEM121B (P22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552571	NM_031890.4(TMEM121B):c.1123G>A (p.Ala375Thr)	TMEM121B (A375T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178481	NM_031890.4(TMEM121B):c.1121G>T (p.Gly374Val)	TMEM121B (G374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178480	NM_031890.4(TMEM121B):c.1030C>T (p.Arg344Cys)	TMEM121B (R344C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486318	NM_031890.4(TMEM121B):c.868G>A (p.Gly290Arg)	TMEM121B (G290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178516	NM_031890.4(TMEM121B):c.824A>C (p.His275Pro)	TMEM121B (H275P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178513	NM_031890.4(TMEM121B):c.779C>T (p.Ala260Val)	TMEM121B (A260V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178511	NM_031890.4(TMEM121B):c.674T>C (p.Leu225Pro)	TMEM121B (L225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178509	NM_031890.4(TMEM121B):c.628G>A (p.Ala210Thr)	TMEM121B (A210T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178508	NM_031890.4(TMEM121B):c.575C>A (p.Pro192His)	TMEM121B (P192H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178507	NM_031890.4(TMEM121B):c.562C>T (p.Arg188Cys)	TMEM121B (R188C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178506	NM_031890.4(TMEM121B):c.548G>A (p.Arg183His)	TMEM121B (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178505	NM_031890.4(TMEM121B):c.527G>A (p.Gly176Asp)	TMEM121B (G176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602657	NM_031890.4(TMEM121B):c.508C>T (p.Pro170Ser)	TMEM121B (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178504	NM_031890.4(TMEM121B):c.485C>T (p.Thr162Ile)	TMEM121B (T162I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178503	NM_031890.4(TMEM121B):c.478A>G (p.Thr160Ala)	TMEM121B (T160A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178502	NM_031890.4(TMEM121B):c.463G>T (p.Gly155Trp)	TMEM121B (G155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178501	NM_031890.4(TMEM121B):c.457T>G (p.Ser153Ala)	TMEM121B (S153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178500	NM_031890.4(TMEM121B):c.380C>T (p.Thr127Ile)	TMEM121B (T127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178499	NM_031890.4(TMEM121B):c.278C>A (p.Ala93Asp)	TMEM121B (A93D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178498	NM_031890.4(TMEM121B):c.202C>T (p.Pro68Ser)	TMEM121B (P68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178497	NM_031890.4(TMEM121B):c.196G>T (p.Gly66Cys)	TMEM121B (G66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474075	NM_031890.4(TMEM121B):c.196G>A (p.Gly66Ser)	TMEM121B (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178496	NM_031890.4(TMEM121B):c.187G>T (p.Gly63Trp)	TMEM121B (G63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178517	NM_031890.4(TMEM121B):c.97C>G (p.Arg33Gly)	TMEM121B (R33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178514	NM_031890.4(TMEM121B):c.80T>G (p.Leu27Arg)	TMEM121B (L27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178512	NM_031890.4(TMEM121B):c.73G>A (p.Ala25Thr)	TMEM121B (A25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178510	NM_031890.4(TMEM121B):c.62C>T (p.Pro21Leu)	TMEM121B (P21L)	Single nucleotide variant (missense variant +1 more)	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 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 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 1808457	GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	ADA2, ATP6V1E1 +26 more	Copy number loss	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 1321995	GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	TMEM121B, ADA2 +15 more	Copy number gain	See cases	GPathogenic
Select item 1176014	GRCh37/hg19 22q11.1(chr22:17443623-17663651)x1	ADA2, GAB4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1003420	NC_000022.10:g.(?_17565962)_(17672720_?)dup	TMEM121B, ADA2 +2 more	Duplication	Vasculitis due to ADA2 deficiency	GUncertain significance
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 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 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

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