6712[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548141.	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 GRCh37: Chr11:65508902-67473140 GRCh38: Chr11:65741431-67705669	LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, MUS81, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, OVOL1, OVOL1-AS1, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD, RIN1, RPS6KB2, SART1, SF3B2, SLC29A2, SNORD13F, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, TSGA10IP, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, AP5B1, B4GAT1, B4GAT1-DT, BANF1, BBS1, BRMS1, C11orf68, C11orf86, CABP2, CABP4, CARNS1, CATSPER1, CCDC85B, CCDC87, CCS, CD248, CDK2AP2, CFL1, CLCF1, CNIH2, CORO1B, CST6, CTSF, CTSW, DPP3, DPP3-DT, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, FRA11A, GAL3ST3, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LOC100130987, LOC107984341, LOC111413017, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC116216147, LOC116216148, LOC121832794, LOC124500672, LOC124500673, LOC124500674, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006063, LOC130006064, LOC130006065, LOC130006066, LOC130006067, LOC130006068, LOC130006069, LOC130006070, LOC130006071, LOC130006072, LOC130006073, LOC130006074, LOC130006075, LOC130006076, LOC130006077, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 597572.	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 GRCh37: Chr11:65960973-67658241 GRCh38: Chr11:66193502-67890770	RIN1, RPS6KB2, SLC29A2, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, B4GAT1, B4GAT1-DT, BBS1, BRMS1, C11orf86, CABP2, CABP4, CARNS1, CCDC87, CCS, CD248, CDK2AP2, CLCF1, CNIH2, CORO1B, CTSF, DPP3, DPP3-DT, FRA11A, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LINC02754, LOC100130987, LOC107984341, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3055173.	NM_006946.4(SPTBN2):c.*546T>C GRCh37: Chr11:66452796 GRCh38: Chr11:66685325	SPTBN2		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3055184.	NM_006946.4(SPTBN2):c.*364C>T GRCh37: Chr11:66452978 GRCh38: Chr11:66685507	SPTBN2		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3055195.	NM_006946.4(SPTBN2):c.*228dup GRCh37: Chr11:66453113-66453114 GRCh38: Chr11:66685642-66685643	SPTBN2		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3055206.	NM_006946.4(SPTBN2):c.*121A>G GRCh37: Chr11:66453221 GRCh38: Chr11:66685750	SPTBN2		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3055217.	NM_006946.4(SPTBN2):c.*71G>A GRCh37: Chr11:66453271 GRCh38: Chr11:66685800	SPTBN2		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3055228.	NM_006946.4(SPTBN2):c.*61G>A GRCh37: Chr11:66453281 GRCh38: Chr11:66685810	SPTBN2		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 25582299.	NM_006946.4(SPTBN2):c.7151G>A (p.Ser2384Asn) GRCh37: Chr11:66453364 GRCh38: Chr11:66685893	SPTBN2	S2391N, S2384N	Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 180199910.	NM_006946.4(SPTBN2):c.7133_7134del (p.Glu2378fs) GRCh37: Chr11:66453381-66453382 GRCh38: Chr11:66685910-66685911	SPTBN2	E2378fs	not provided	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 155008011.	NM_006946.4(SPTBN2):c.7119C>T (p.Asp2373=) GRCh37: Chr11:66453396 GRCh38: Chr11:66685925	SPTBN2		not provided	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 61997412.	NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) GRCh37: Chr11:66453406 GRCh38: Chr11:66685935	SPTBN2	R2370H	Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14, not provided	Conflicting interpretations of pathogenicity (Jun 19, 2022)	criteria provided, conflicting interpretations
Select item 98266613.	NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala) GRCh37: Chr11:66453412 GRCh38: Chr11:66685941	SPTBN2	V2368A	Spinocerebellar ataxia type 5	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 93144114.	NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) GRCh37: Chr11:66453419 GRCh38: Chr11:66685948	SPTBN2	P2366S	Spinocerebellar ataxia type 5	Uncertain significance (May 7, 2019)	criteria provided, single submitter
Select item 218314615.	NM_006946.4(SPTBN2):c.7090G>A (p.Glu2364Lys) GRCh37: Chr11:66453425 GRCh38: Chr11:66685954	SPTBN2	E2371K, E2364K	not provided	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 189979716.	NM_006946.4(SPTBN2):c.7084G>A (p.Gly2362Arg) GRCh37: Chr11:66453431 GRCh38: Chr11:66685960	SPTBN2	G2362R, G2369R	not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 73757117.	NM_006946.4(SPTBN2):c.7083C>T (p.Val2361=) GRCh37: Chr11:66453432 GRCh38: Chr11:66685961	SPTBN2		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 209367718.	NM_006946.4(SPTBN2):c.7080C>T (p.Pro2360=) GRCh37: Chr11:66453435 GRCh38: Chr11:66685964	SPTBN2		not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 150586119.	NM_006946.4(SPTBN2):c.7052G>A (p.Arg2351Gln) GRCh37: Chr11:66453463 GRCh38: Chr11:66685992	SPTBN2	R2351Q	not provided	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 125619220.	NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp) GRCh37: Chr11:66453464 GRCh38: Chr11:66685993	SPTBN2	R2351W	not provided	Uncertain significance (Jun 7, 2021)	criteria provided, single submitter
Select item 170900621.	NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer) GRCh37: Chr11:66453471 GRCh38: Chr11:66686000	SPTBN2		Spinocerebellar ataxia type 5	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 180301322.	NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln) GRCh37: Chr11:66453475 GRCh38: Chr11:66686004	SPTBN2	R2347Q, R2354Q	Spinocerebellar ataxia type 5, not provided	Conflicting interpretations of pathogenicity (Dec 7, 2022)	criteria provided, conflicting interpretations
Select item 125619123.	NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) GRCh37: Chr11:66453476 GRCh38: Chr11:66686005	SPTBN2	R2347W	Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 80537624.	NM_006946.4(SPTBN2):c.7034C>A (p.Thr2345Asn) GRCh37: Chr11:66453481 GRCh38: Chr11:66686010	SPTBN2	T2345N	not provided	Likely benign (Aug 7, 2019)	criteria provided, single submitter
Select item 125619025.	NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg) GRCh37: Chr11:66453485 GRCh38: Chr11:66686014	SPTBN2	S2344R	not provided	Uncertain significance (Oct 27, 2020)	criteria provided, single submitter
Select item 30552326.	NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) GRCh37: Chr11:66453495 GRCh38: Chr11:66686024	SPTBN2		Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 5, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140337227.	NM_006946.4(SPTBN2):c.7004_7012del (p.Gly2335_Pro2337del) GRCh37: Chr11:66453503-66453511 GRCh38: Chr11:66686032-66686040	SPTBN2		not provided	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 125618828.	NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys) GRCh37: Chr11:66453509 GRCh38: Chr11:66686038	SPTBN2	E2336K	not provided	Uncertain significance (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58649129.	NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) GRCh37: Chr11:66453525 GRCh38: Chr11:66686054	SPTBN2		not provided	Benign/Likely benign (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 264200030.	NM_006946.4(SPTBN2):c.6980T>C (p.Ile2327Thr) GRCh37: Chr11:66453535 GRCh38: Chr11:66686064	SPTBN2	I2327T, I2334T	not provided	Uncertain significance (Apr 1, 2023)	criteria provided, single submitter
Select item 141325031.	NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln) GRCh37: Chr11:66453553 GRCh38: Chr11:66686082	SPTBN2	R2321Q	not provided, Inborn genetic diseases	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241258032.	NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr) GRCh37: Chr11:66453565 GRCh38: Chr11:66686094	SPTBN2	S2324T, S2317T	Inborn genetic diseases	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 30552433.	NM_006946.4(SPTBN2):c.6940-11T>C GRCh37: Chr11:66453586 GRCh38: Chr11:66686115	SPTBN2		Autosomal dominant cerebellar ataxia, not provided	Conflicting interpretations of pathogenicity (May 7, 2021)	criteria provided, conflicting interpretations
Select item 166471534.	NM_006946.4(SPTBN2):c.6940-14C>A GRCh37: Chr11:66453589 GRCh38: Chr11:66686118	SPTBN2		not provided	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 80537535.	NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) GRCh37: Chr11:66453879 GRCh38: Chr11:66686408	SPTBN2	A2310V	not provided	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 125618736.	NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=) GRCh37: Chr11:66453902 GRCh38: Chr11:66686431	SPTBN2		not specified	Likely benign (Jan 15, 2021)	criteria provided, single submitter
Select item 87893937.	NM_006946.4(SPTBN2):c.6897-4A>G GRCh37: Chr11:66453915 GRCh38: Chr11:66686444	SPTBN2		Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 180693438.	NM_006946.4(SPTBN2):c.6897-6C>A GRCh37: Chr11:66453917 GRCh38: Chr11:66686446	SPTBN2		not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 126735239.	NM_006946.4(SPTBN2):c.6897-89T>C GRCh37: Chr11:66454000 GRCh38: Chr11:66686529	SPTBN2		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 30552540.	NM_006946.4(SPTBN2):c.6896+11G>A GRCh37: Chr11:66454454 GRCh38: Chr11:66686983	SPTBN2		Spinocerebellar ataxia type 5, not provided, Autosomal recessive spinocerebellar ataxia 14	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44852541.	NM_006946.4(SPTBN2):c.6896+9_6896+10del GRCh37: Chr11:66454455-66454456 GRCh38: Chr11:66686984-66686985	SPTBN2		not specified	Likely benign (Nov 8, 2016)	criteria provided, single submitter
Select item 154475642.	NM_006946.4(SPTBN2):c.6868C>A (p.Arg2290=) GRCh37: Chr11:66454493 GRCh38: Chr11:66687022	SPTBN2		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 138672343.	NM_006946.4(SPTBN2):c.6826G>A (p.Val2276Ile) GRCh37: Chr11:66454535 GRCh38: Chr11:66687064	SPTBN2	V2276I	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 161532144.	NM_006946.4(SPTBN2):c.6813C>T (p.His2271=) GRCh37: Chr11:66454548 GRCh38: Chr11:66687077	SPTBN2		not provided	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 93419145.	NM_006946.4(SPTBN2):c.6803T>C (p.Val2268Ala) GRCh37: Chr11:66454558 GRCh38: Chr11:66687087	SPTBN2	V2268A	not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 102911646.	NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) GRCh37: Chr11:66454559 GRCh38: Chr11:66687088	SPTBN2	V2268M	not provided, Autosomal recessive spinocerebellar ataxia 14	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 44852447.	NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) GRCh37: Chr11:66454563 GRCh38: Chr11:66687092	SPTBN2		not provided, not specified	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30552648.	NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) GRCh37: Chr11:66454564 GRCh38: Chr11:66687093	SPTBN2	A2266V	not specified, not provided, Autosomal dominant cerebellar ataxia	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 142876249.	NM_006946.4(SPTBN2):c.6796G>A (p.Ala2266Thr) GRCh37: Chr11:66454565 GRCh38: Chr11:66687094	SPTBN2	A2266T	not provided	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 170862450.	NM_006946.4(SPTBN2):c.6775A>G (p.Lys2259Glu) GRCh37: Chr11:66454586 GRCh38: Chr11:66687115	SPTBN2	K2259E, K2266E	not provided	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 205089551.	NM_006946.4(SPTBN2):c.6766G>A (p.Gly2256Ser) GRCh37: Chr11:66454595 GRCh38: Chr11:66687124	SPTBN2	G2256S, G2263S	not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 158804852.	NM_006946.4(SPTBN2):c.6765C>T (p.Leu2255=) GRCh37: Chr11:66454596 GRCh38: Chr11:66687125	SPTBN2		not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 30552753.	NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg) GRCh37: Chr11:66454604 GRCh38: Chr11:66687133	SPTBN2	G2253R	Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 43685154.	NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) GRCh37: Chr11:66454606 GRCh38: Chr11:66687135	SPTBN2	R2252H	not specified, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jul 13, 2022)	criteria provided, conflicting interpretations
Select item 196614555.	NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys) GRCh37: Chr11:66454607 GRCh38: Chr11:66687136	SPTBN2	R2259C, R2252C	not provided	Conflicting interpretations of pathogenicity (Aug 11, 2022)	criteria provided, conflicting interpretations
Select item 58649056.	NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) GRCh37: Chr11:66454609 GRCh38: Chr11:66687138	SPTBN2	R2251Q	not provided	Uncertain significance (Sep 7, 2017)	criteria provided, single submitter
Select item 30552857.	NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) GRCh37: Chr11:66454610 GRCh38: Chr11:66687139	SPTBN2	R2251W	Autosomal dominant cerebellar ataxia, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 6, 2023)	criteria provided, conflicting interpretations
Select item 59478358.	NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile) GRCh37: Chr11:66454616 GRCh38: Chr11:66687145	SPTBN2	V2249I	not provided	Uncertain significance (Jan 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63844559.	NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) GRCh37: Chr11:66454622 GRCh38: Chr11:66687151	SPTBN2	Y2247H	not provided, Spinocerebellar ataxia type 5	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 44852360.	NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) GRCh37: Chr11:66454625 GRCh38: Chr11:66687154	SPTBN2	V2246M	not specified, Inborn genetic diseases, Spinocerebellar ataxia type 5	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30552961.	NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) GRCh37: Chr11:66454626 GRCh38: Chr11:66687155	SPTBN2		Autosomal dominant cerebellar ataxia, not specified	Conflicting interpretations of pathogenicity (Jan 17, 2020)	criteria provided, conflicting interpretations
Select item 156176762.	NM_006946.4(SPTBN2):c.6723-4G>A GRCh37: Chr11:66454642 GRCh38: Chr11:66687171	SPTBN2		not provided	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 108603063.	NM_006946.4(SPTBN2):c.6723-5C>T GRCh37: Chr11:66454643 GRCh38: Chr11:66687172	SPTBN2		not provided	Likely benign (Oct 21, 2020)	criteria provided, single submitter
Select item 30553064.	NM_006946.4(SPTBN2):c.6723-11G>A GRCh37: Chr11:66454649 GRCh38: Chr11:66687178	SPTBN2		Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87737665.	NM_006946.4(SPTBN2):c.6723-14C>T GRCh37: Chr11:66454652 GRCh38: Chr11:66687181	SPTBN2		not provided, Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187920566.	NM_006946.4(SPTBN2):c.6722+1G>T GRCh37: Chr11:66454897 GRCh38: Chr11:66687426	SPTBN2		not provided	Pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 99447867.	NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=) GRCh37: Chr11:66454900 GRCh38: Chr11:66687429	SPTBN2		not provided	Uncertain significance (Jul 15, 2020)	criteria provided, single submitter
Select item 136776068.	NM_006946.4(SPTBN2):c.6703G>A (p.Gly2235Arg) GRCh37: Chr11:66454917 GRCh38: Chr11:66687446	SPTBN2	G2235R	not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 125618669.	NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=) GRCh37: Chr11:66454918 GRCh38: Chr11:66687447	SPTBN2		not specified	Benign (May 7, 2021)	criteria provided, single submitter
Select item 93022370.	NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) GRCh37: Chr11:66454932 GRCh38: Chr11:66687461	SPTBN2	E2230Q	Spinocerebellar ataxia type 5	Uncertain significance (Mar 6, 2019)	criteria provided, single submitter
Select item 180693571.	NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His) GRCh37: Chr11:66454940 GRCh38: Chr11:66687469	SPTBN2	R2227H, R2234H	Inborn genetic diseases, not provided	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39172372.	NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys) GRCh37: Chr11:66454941 GRCh38: Chr11:66687470	SPTBN2	R2227C	not provided, Inborn genetic diseases	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30553173.	NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro) GRCh37: Chr11:66454946 GRCh38: Chr11:66687475	SPTBN2	L2225P	Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 205585374.	NM_006946.4(SPTBN2):c.6671T>A (p.Met2224Lys) GRCh37: Chr11:66454949 GRCh38: Chr11:66687478	SPTBN2	M2224K, M2231K	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 30553275.	NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) GRCh37: Chr11:66454951 GRCh38: Chr11:66687480	SPTBN2		Autosomal dominant cerebellar ataxia, not provided, Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180693376.	NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=) GRCh37: Chr11:66454963 GRCh38: Chr11:66687492	SPTBN2		not provided	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 212178177.	NM_006946.4(SPTBN2):c.6655G>C (p.Glu2219Gln) GRCh37: Chr11:66454965 GRCh38: Chr11:66687494	SPTBN2	E2226Q, E2219Q	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 180693278.	NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val) GRCh37: Chr11:66454970 GRCh38: Chr11:66687499	SPTBN2	A2217V, A2224V	not provided	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 158921279.	NM_006946.4(SPTBN2):c.6642G>A (p.Glu2214=) GRCh37: Chr11:66454978 GRCh38: Chr11:66687507	SPTBN2		not provided	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 44852280.	NM_006946.4(SPTBN2):c.6620C>T (p.Thr2207Ile) GRCh37: Chr11:66455000 GRCh38: Chr11:66687529	SPTBN2	T2207I	not specified	Uncertain significance (Sep 21, 2016)	criteria provided, single submitter
Select item 80537381.	NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys) GRCh37: Chr11:66455019 GRCh38: Chr11:66687548	SPTBN2	E2201K	not provided	Uncertain significance (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76196182.	NM_006946.4(SPTBN2):c.6600C>T (p.Thr2200=) GRCh37: Chr11:66455020 GRCh38: Chr11:66687549	SPTBN2		not provided	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 99447783.	NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) GRCh37: Chr11:66455029 GRCh38: Chr11:66687558	SPTBN2		Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104999084.	NM_006946.4(SPTBN2):c.6580A>G (p.Met2194Val) GRCh37: Chr11:66455040 GRCh38: Chr11:66687569	SPTBN2	M2194V	not provided	Uncertain significance	no assertion criteria provided
Select item 80537285.	NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) GRCh37: Chr11:66455048 GRCh38: Chr11:66687577	SPTBN2	P2191L	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 30553386.	NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu) GRCh37: Chr11:66455054 GRCh38: Chr11:66687583	SPTBN2	P2189L	Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 99447687.	NM_006946.4(SPTBN2):c.6562G>A (p.Gly2188Ser) GRCh37: Chr11:66455058 GRCh38: Chr11:66687587	SPTBN2	G2188S	Inborn genetic diseases, not specified	Conflicting interpretations of pathogenicity (Dec 14, 2021)	criteria provided, conflicting interpretations
Select item 223091788.	NM_006946.4(SPTBN2):c.6553C>T (p.Arg2185Trp) GRCh37: Chr11:66455067 GRCh38: Chr11:66687596	SPTBN2	R2185W, R2192W	Inborn genetic diseases	Uncertain significance (May 17, 2021)	criteria provided, single submitter
Select item 42427189.	NM_006946.4(SPTBN2):c.6547C>G (p.Gln2183Glu) GRCh37: Chr11:66455073 GRCh38: Chr11:66687602	SPTBN2	Q2183E	Inborn genetic diseases, not provided	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 232622190.	NM_006946.4(SPTBN2):c.6543G>C (p.Glu2181Asp) GRCh37: Chr11:66455077 GRCh38: Chr11:66687606	SPTBN2	E2181D, E2188D	Inborn genetic diseases	Likely benign (Nov 17, 2022)	criteria provided, single submitter
Select item 155502791.	NM_006946.4(SPTBN2):c.6541G>A (p.Glu2181Lys) GRCh37: Chr11:66455079 GRCh38: Chr11:66687608	SPTBN2	E2181K	not provided	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 93055992.	NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) GRCh37: Chr11:66455084 GRCh38: Chr11:66687613	SPTBN2	R2179Q	not provided, Spinocerebellar ataxia type 5	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 118708293.	NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) GRCh37: Chr11:66455085 GRCh38: Chr11:66687614	SPTBN2	R2179W	not provided	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30553494.	NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) GRCh37: Chr11:66455092 GRCh38: Chr11:66687621	SPTBN2		not provided, Autosomal dominant cerebellar ataxia	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 207742995.	NM_006946.4(SPTBN2):c.6527A>G (p.Asn2176Ser) GRCh37: Chr11:66455093 GRCh38: Chr11:66687622	SPTBN2	N2176S, N2183S	not provided	Benign (Aug 30, 2022)	criteria provided, single submitter
Select item 80537196.	NM_006946.4(SPTBN2):c.6513A>C (p.Ser2171=) GRCh37: Chr11:66455107 GRCh38: Chr11:66687636	SPTBN2		not provided	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180694097.	NM_006946.4(SPTBN2):c.6502-5C>A GRCh37: Chr11:66455123 GRCh38: Chr11:66687652	SPTBN2		not provided	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 19691398.	NM_006946.4(SPTBN2):c.6502-5C>T GRCh37: Chr11:66455123 GRCh38: Chr11:66687652	SPTBN2		not provided	Uncertain significance (Feb 16, 2015)	criteria provided, single submitter
Select item 87898999.	NM_006946.4(SPTBN2):c.6502-9C>T GRCh37: Chr11:66455127 GRCh38: Chr11:66687656	SPTBN2		Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14	Conflicting interpretations of pathogenicity (Mar 23, 2018)	criteria provided, conflicting interpretations
Select item 1365449100.	NM_006946.4(SPTBN2):c.6501+14C>T GRCh37: Chr11:66455325 GRCh38: Chr11:66687854	SPTBN2		not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter

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