ZBTB11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145303	GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3	CEP97, LOC101929411 +30 more	Copy number gain	See cases	GLikely benign
Select item 152904	GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3	CEP97, LOC126806751 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3043173	NM_014415.4(ZBTB11):c.10_13del	ZBTB11	Deletion (3 prime UTR variant)	ZBTB11-related disorder	GLikely benign
Select item 2316271	NM_014415.4(ZBTB11):c.3137T>C (p.Val1046Ala)	ZBTB11 (V1046A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596572	NM_014415.4(ZBTB11):c.3020C>T (p.Ser1007Leu)	ZBTB11 (S1007L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191895	NM_014415.4(ZBTB11):c.2977A>G (p.Met993Val)	ZBTB11 (M993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235737	NM_014415.4(ZBTB11):c.2945A>G (p.Glu982Gly)	ZBTB11 (E982G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2384734	NM_014415.4(ZBTB11):c.2914A>G (p.Met972Val)	ZBTB11 (M972V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240543	NM_014415.4(ZBTB11):c.2801C>G (p.Thr934Ser)	ZBTB11 (T934S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703744	NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)	ZBTB11 (R927*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3047351	NM_014415.4(ZBTB11):c.2760C>T (p.Ser920=)	ZBTB11	Single nucleotide variant (synonymous variant)	ZBTB11-related disorder	GLikely benign
Select item 1703742	NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)	ZBTB11	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3370365	NM_014415.4(ZBTB11):c.2708G>A (p.Arg903His)	ZBTB11 (R903H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3191894	NM_014415.4(ZBTB11):c.2674G>A (p.Gly892Arg)	ZBTB11 (G892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703741	NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)	ZBTB11 (T890A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3341929	NM_014415.4(ZBTB11):c.2655A>C (p.Pro885=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060760	NM_014415.4(ZBTB11):c.2645-4_2645-3del	ZBTB11	Deletion (intron variant)	ZBTB11-related disorder	GLikely benign
Select item 625186	NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)	ZBTB11 (H880Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1703928	NM_014415.4(ZBTB11):c.2618A>G (p.Tyr873Cys)	ZBTB11 (Y873C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706735	NM_014415.4(ZBTB11):c.2586dup (p.Cys863fs)	ZBTB11 (C863fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3191893	NM_014415.4(ZBTB11):c.2572C>T (p.Arg858Trp)	ZBTB11 (R858W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654013	NM_014415.4(ZBTB11):c.2463T>G (p.Pro821=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507059	NM_014415.4(ZBTB11):c.2446C>T (p.His816Tyr)	ZBTB11 (H816Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507327	NM_014415.4(ZBTB11):c.2416A>C (p.Lys806Gln)	ZBTB11 (K806Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3191891	NM_014415.4(ZBTB11):c.2345G>T (p.Arg782Leu)	ZBTB11 (R782L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038505	NM_014415.4(ZBTB11):c.2268A>G (p.Lys756=)	ZBTB11	Single nucleotide variant (synonymous variant)	ZBTB11-related disorder	GLikely benign
Select item 3191890	NM_014415.4(ZBTB11):c.2261T>A (p.Phe754Tyr)	ZBTB11 (F754Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675928	NM_014415.4(ZBTB11):c.2244T>C (p.Ser748=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043402	NM_014415.4(ZBTB11):c.2214A>G (p.Ser738=)	ZBTB11	Single nucleotide variant (synonymous variant)	ZBTB11-related disorder	GLikely benign
Select item 625185	NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)	ZBTB11 (H729Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3235831	NM_014415.4(ZBTB11):c.2177T>A (p.Met726Lys)	ZBTB11 (M726K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221739	NM_014415.4(ZBTB11):c.2111A>G (p.Gln704Arg)	ZBTB11 (Q704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438637	NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)	ZBTB11 (R667*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 3191888	NM_014415.4(ZBTB11):c.1965A>G (p.Ile655Met)	ZBTB11 (I655M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493476	NM_014415.4(ZBTB11):c.1904A>G (p.Asn635Ser)	ZBTB11 (N635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380945	NM_014415.4(ZBTB11):c.1807A>G (p.Lys603Glu)	ZBTB11 (K603E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615660	NM_014415.4(ZBTB11):c.1793A>G (p.Lys598Arg)	ZBTB11 (K598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348770	NM_014415.4(ZBTB11):c.1747G>A (p.Ala583Thr)	ZBTB11 (A583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049773	NM_014415.4(ZBTB11):c.1719A>G (p.Glu573=)	ZBTB11	Single nucleotide variant (synonymous variant)	ZBTB11-related disorder	GLikely benign
Select item 1684248	NM_014415.4(ZBTB11):c.1624-4C>T	ZBTB11	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 69 +1 more	GBenign
Select item 3191886	NM_014415.4(ZBTB11):c.1591C>T (p.Arg531Trp)	ZBTB11 (R531W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191885	NM_014415.4(ZBTB11):c.1558C>G (p.Leu520Val)	ZBTB11 (L520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333845	NM_014415.4(ZBTB11):c.1520T>G (p.Leu507Arg)	ZBTB11 (L507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339890	NM_014415.4(ZBTB11):c.1508dup (p.Tyr503Ter)	ZBTB11 (Y503*)	Duplication (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3191884	NM_014415.4(ZBTB11):c.1426A>G (p.Lys476Glu)	ZBTB11 (K476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333844	NM_014415.4(ZBTB11):c.1402G>A (p.Glu468Lys)	ZBTB11 (E468K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701461	NM_014415.4(ZBTB11):c.1401C>T (p.Ala467=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256622	NM_014415.4(ZBTB11):c.1380A>G (p.Ile460Met)	ZBTB11 (I460M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191883	NM_014415.4(ZBTB11):c.1379T>C (p.Ile460Thr)	ZBTB11 (I460T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379642	NM_014415.4(ZBTB11):c.1376A>G (p.Asp459Gly)	ZBTB11 (D459G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695079	NM_014415.4(ZBTB11):c.1345A>T (p.Ser449Cys)	ZBTB11 (S449C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065506	NM_014415.4(ZBTB11):c.1342A>G (p.Ser448Gly)	ZBTB11 (S448G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 1027862	NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg)	ZBTB11 (S448R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 2361228	NM_014415.4(ZBTB11):c.1283A>G (p.Asn428Ser)	ZBTB11 (N428S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2348000	NM_014415.4(ZBTB11):c.1279A>G (p.Asn427Asp)	ZBTB11 (N427D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318960	NM_014415.4(ZBTB11):c.1204A>G (p.Ile402Val)	ZBTB11 (I402V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191881	NM_014415.4(ZBTB11):c.1175C>G (p.Ala392Gly)	ZBTB11 (A392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041119	NM_014415.4(ZBTB11):c.1145G>A (p.Arg382Gln)	ZBTB11 (R382Q)	Single nucleotide variant (missense variant)	ZBTB11-related disorder	GLikely benign
Select item 2578945	NM_014415.4(ZBTB11):c.1137G>A (p.Glu379=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191880	NM_014415.4(ZBTB11):c.1075G>C (p.Gly359Arg)	ZBTB11 (G359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654014	NM_014415.4(ZBTB11):c.1049C>A (p.Thr350Asn)	ZBTB11 (T350N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3191879	NM_014415.4(ZBTB11):c.1030G>A (p.Val344Ile)	ZBTB11 (V344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191878	NM_014415.4(ZBTB11):c.1016G>T (p.Gly339Val)	ZBTB11 (G339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191877	NM_014415.4(ZBTB11):c.1013G>A (p.Gly338Glu)	ZBTB11 (G338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370640	NM_014415.4(ZBTB11):c.1001G>A (p.Arg334Gln)	ZBTB11 (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191876	NM_014415.4(ZBTB11):c.1000C>G (p.Arg334Gly)	ZBTB11 (R334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707341	NM_014415.4(ZBTB11):c.994G>T (p.Asp332Tyr)	ZBTB11 (D332Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349951	NM_014415.4(ZBTB11):c.919G>A (p.Val307Ile)	ZBTB11 (V307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703743	NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)	ZBTB11 (I303F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1027864	NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe)	ZBTB11 (L267F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 3191896	NM_014415.4(ZBTB11):c.763G>A (p.Val255Met)	ZBTB11 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257449	NM_014415.4(ZBTB11):c.760G>A (p.Ala254Thr)	ZBTB11 (A254T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2445882	NM_014415.4(ZBTB11):c.718C>T (p.Arg240Ter)	ZBTB11 (R240*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1027863	NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys)	ZBTB11 (E237K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 2654015	NM_014415.4(ZBTB11):c.594G>A (p.Gln198=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217875	NM_014415.4(ZBTB11):c.389C>T (p.Ser130Leu)	ZBTB11 (S130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298929	NM_014415.4(ZBTB11):c.384A>G (p.Pro128=)	ZBTB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407258	NM_014415.4(ZBTB11):c.358C>A (p.Gln120Lys)	ZBTB11 (Q120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334443	NM_014415.4(ZBTB11):c.282C>A (p.His94Gln)	ZBTB11, ZBTB11-AS1 (H94Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224174	NM_014415.4(ZBTB11):c.280C>T (p.His94Tyr)	ZBTB11, ZBTB11-AS1 (H94Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1700846	NM_014415.4(ZBTB11):c.271C>T (p.Gln91Ter)	ZBTB11, ZBTB11-AS1 (Q91*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3191892	NM_014415.4(ZBTB11):c.253A>G (p.Thr85Ala)	ZBTB11, ZBTB11-AS1 (T85A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3191889	NM_014415.4(ZBTB11):c.220C>A (p.Leu74Ile)	ZBTB11, ZBTB11-AS1 (L74I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3055253	NM_014415.4(ZBTB11):c.219C>T (p.Asp73=)	ZBTB11, ZBTB11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ZBTB11-related disorder	GLikely benign
Select item 3191887	NM_014415.4(ZBTB11):c.167G>A (p.Arg56His)	ZBTB11, ZBTB11-AS1 (R56H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2264704	NM_014415.4(ZBTB11):c.166C>T (p.Arg56Cys)	ZBTB11, ZBTB11-AS1 (R56C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1703745	NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)	ZBTB11, ZBTB11-AS1 (R52W)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 2384076	NM_014415.4(ZBTB11):c.118T>C (p.Tyr40His)	ZBTB11, ZBTB11-AS1 (Y40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2506345	NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)	ZBTB11, ZBTB11-AS1 (V29fs)	Deletion (non-coding transcript variant +1 more)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3373164	NM_014415.4(ZBTB11):c.92G>C (p.Arg31Pro)	ZBTB11, ZBTB11-AS1 (R31P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2279731	NM_014415.4(ZBTB11):c.35G>C (p.Arg12Pro)	ZBTB11, ZBTB11-AS1 (R12P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303761	NM_014415.4(ZBTB11):c.17G>A (p.Ser6Asn)	ZBTB11, ZBTB11-AS1 (S6N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1700837	NM_014415.4(ZBTB11):c.13G>A (p.Glu5Lys)	ZBTB11, ZBTB11-AS1 (E5K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3191882	NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly)	ZBTB11, ZBTB11-AS1 (E4G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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