93627[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580331.	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 GRCh37: Chr4:97014044-137331362 GRCh38: Chr4:96092893-136410207	ABHD18, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFG2A, AIMP1, ALPK1, ANK2, ANKRD50, ANXA5, AP1AR, AP1AR-DT, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BBS7-DT, BDH2, BLTP1, C4orf17, C4orf3, C4orf33, C4orf54, CAMK2D, CASP6, CCNA2, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CXXC4-AS1, CYP2U1, CYP2U1-AS1, DAPP1, DDIT4L, DDIT4L-AS1, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, EXOSC9, FABP2, FAM241A, FAT4, FGF2, FLJ20021, GAR1, GAR1-DT, GIMD1, GSTCD, GSTCD-AS1, H2AZ1, H2AZ1-DT, HADH, HSPA4L, IL2, IL21, IL21-AS1, INTS12, INTU, JADE1, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LINC00613, LINC01061, LINC01091, LINC01216, LINC01217, LINC01218, LINC01256, LINC01365, LINC01378, LINC02173, LINC02262, LINC02263, LINC02264, LINC02267, LINC02377, LINC02379, LINC02428, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02503, LINC02516, LINC02615, LINC02945, LOC100507053, LOC101927259, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC102725220, LOC105377352, LOC105377366, LOC105377438, LOC105377621, LOC107986192, LOC109113863, LOC110120634, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC110120975, LOC110121089, LOC110121129, LOC110121138, LOC110121150, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111413048, LOC111591508, LOC112935970, LOC112935971, LOC112935972, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158504, LOC116158505, LOC116158506, LOC116158507, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121056741, LOC121056742, LOC121056743, LOC121725179, LOC121725180, LOC121725181, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC126807125, LOC126807126, LOC126807127, LOC126807128, LOC126807129, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC126807140, LOC126807141, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129389230, LOC129389231, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC129992873, LOC129992874, LOC129992875, LOC129992876, LOC129992877, LOC129992878, LOC129992879, LOC129992880, LOC129992881, LOC129992882, LOC129992883, LOC129992884, LOC129992885, LOC129992886, LOC129992887, LOC129992888, LOC129992889, LOC129992890, LOC129992891, LOC129992892, LOC129992893, LOC129992894, LOC129992895, LOC129992896, LOC129992897, LOC129992898, LOC129992899, LOC129992900, LOC129992901, LOC129992902, LOC129992903, LOC129992904, LOC129992905, LOC129992906, LOC129992907, LOC129992908, LOC129992909, LOC129992910, LOC129992911, LOC129992912, LOC129992913, LOC129992914, LOC129992915, LOC129992916, LOC129992917, LOC129992918, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC129992963, LOC129992964, LOC129992965, LOC129992966, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC129993000, LOC129993001, LOC129993002, LOC129993003, LOC129993004, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC132088988, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132088998, LOC132088999, LOC132089000, LOC132089001, LOC132089002, LOC132089003, LOC132089004, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132090708, LOC132090709, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, LRIT3, MAD2L1, MAD2L1-DT, MANBA, MCUB, METAP1, METTL14, METTL14-DT, MFSD8, MIR1243, MIR1255A, MIR1973, MIR2054, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR3684, MIR576, MIR577, MIR8066, MIR8082, MTTP, MYOZ2, NDNF, NDNF-AS1, NDST3, NDST4, NEUROG2, NEUROG2-AS1, NFKB1, NPNT, NUDT6, OSTC, PABPC4L, PANCR, PAPSS1, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PITX2, PLA2G12A, PLK4, PP12613, PPA2, PPP3CA, PRDM5, PRSS12, QRFPR, RAP1GDS1, RPL34, RPL34-DT, RRH, SCLT1, SEC24B, SEC24B-AS1, SEC24D, SGMS2, SLC25A31, SLC39A8, SLC9B1, SLC9B2, SMIM43, SNHG27, SNHG8, SNORA101A, SNORA24, SPRY1, STPG2, STPG2-AS1, SYNPO2, TACR3, TACR3-AS1, TBCK, TET2, TET2-AS1, TIFA, TNIP3, TRAM1L1, TRC-GCA2-1, TRMT10A, TRPC3, TSPAN5, TSPAN5-DT, UBE2D3, UBE2D3-AS1, UGT8, USP53, ZGRF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 580342.	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 GRCh37: Chr4:106699504-111128029 GRCh38: Chr4:105778347-110206873	AIMP1, CASP6, CFI, COL25A1, COL25A1-DT, CYP2U1, CYP2U1-AS1, DKK2, EGF, ELOVL6, ETNPPL, GAR1, GAR1-DT, GIMD1, GSTCD, GSTCD-AS1, HADH, LEF1, LEF1-AS1, LINC02173, LOC101929577, LOC101929621, LOC102725220, LOC110120975, LOC110121138, LOC112935971, LOC112935972, LOC121725181, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132090709, LRIT3, MCUB, MIR576, NPNT, OSTC, PAPSS1, PLA2G12A, RPL34, RPL34-DT, RRH, SEC24B, SEC24B-AS1, SGMS2, TBCK		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 20701603.	NM_001163435.3(TBCK):c.2679A>T (p.Ile893=) GRCh37: Chr4:106967730 GRCh38: Chr4:106046573	TBCK		not provided	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 13607214.	NM_001163435.3(TBCK):c.2675A>C (p.Gln892Pro) GRCh37: Chr4:106967734 GRCh38: Chr4:106046577	TBCK	Q853P, Q720P, Q829P, Q892P	not provided	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 14017655.	NM_001163435.3(TBCK):c.2671C>T (p.Pro891Ser) GRCh37: Chr4:106967738 GRCh38: Chr4:106046581	TBCK	P719S, P852S, P891S, P828S	not provided	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 15192976.	NM_001163435.3(TBCK):c.2669C>T (p.Ser890Phe) GRCh37: Chr4:106967740 GRCh38: Chr4:106046583	TBCK	S851F, S718F, S890F, S827F	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 19637307.	NM_001163435.3(TBCK):c.2667A>G (p.Pro889=) GRCh37: Chr4:106967742 GRCh38: Chr4:106046585	TBCK		not provided	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 7363708.	NM_001163435.3(TBCK):c.2660C>T (p.Thr887Ile) GRCh37: Chr4:106967749 GRCh38: Chr4:106046592	TBCK	T715I, T887I, T824I, T848I	not provided	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 13673369.	NM_001163435.3(TBCK):c.2659A>C (p.Thr887Pro) GRCh37: Chr4:106967750 GRCh38: Chr4:106046593	TBCK	T848P, T824P, T887P, T715P	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 210423510.	NM_001163435.3(TBCK):c.2642A>G (p.Lys881Arg) GRCh37: Chr4:106967767 GRCh38: Chr4:106046610	TBCK	K818R, K842R, K881R, K709R	not provided	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 148137511.	NM_001163435.3(TBCK):c.2633A>G (p.Asn878Ser) GRCh37: Chr4:106967776 GRCh38: Chr4:106046619	TBCK	N839S, N706S, N878S, N815S	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 210965912.	NM_001163435.3(TBCK):c.2617C>T (p.Leu873=) GRCh37: Chr4:106967792 GRCh38: Chr4:106046635	TBCK		not provided	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 147065413.	NM_001163435.3(TBCK):c.2588T>C (p.Val863Ala) GRCh37: Chr4:106967821 GRCh38: Chr4:106046664	TBCK	V863A, V800A, V691A, V824A	Inborn genetic diseases, not provided	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213456414.	NM_001163435.3(TBCK):c.2574T>G (p.Phe858Leu) GRCh37: Chr4:106967835 GRCh38: Chr4:106046678	TBCK	F795L, F686L, F819L, F858L	not provided	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 159921815.	NM_001163435.3(TBCK):c.2572-5dup GRCh37: Chr4:106967841-106967842 GRCh38: Chr4:106046684-106046685	TBCK		not provided	Benign (Jul 26, 2022)	criteria provided, single submitter
Select item 192523716.	NM_001163435.3(TBCK):c.2572-5del GRCh37: Chr4:106967842 GRCh38: Chr4:106046685	TBCK		not provided	Benign (May 16, 2022)	criteria provided, single submitter
Select item 154074617.	NM_001163435.3(TBCK):c.2572-7T>C GRCh37: Chr4:106967844 GRCh38: Chr4:106046687	TBCK		not provided	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 190229418.	NM_001163435.3(TBCK):c.2572-10T>A GRCh37: Chr4:106967847 GRCh38: Chr4:106046690	TBCK		not provided	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 163303519.	NM_001163435.3(TBCK):c.2572-15T>C GRCh37: Chr4:106967852 GRCh38: Chr4:106046695	TBCK		not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 167005220.	NM_001163435.3(TBCK):c.2571+17A>T GRCh37: Chr4:107016622 GRCh38: Chr4:106095465	TBCK		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216707221.	NM_001163435.3(TBCK):c.2571+9A>G GRCh37: Chr4:107016630 GRCh38: Chr4:106095473	TBCK		not provided	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 213201022.	NM_001163435.3(TBCK):c.2570A>G (p.Glu857Gly) GRCh37: Chr4:107016640 GRCh38: Chr4:106095483	TBCK	E794G, E818G, E685G, E857G	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 150875023.	NM_001163435.3(TBCK):c.2542G>A (p.Val848Met) GRCh37: Chr4:107016668 GRCh38: Chr4:106095511	TBCK	V785M, V809M, V848M, V676M	Inborn genetic diseases, not provided	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166234424.	NM_001163435.3(TBCK):c.2541C>T (p.Ile847=) GRCh37: Chr4:107016669 GRCh38: Chr4:106095512	TBCK		not provided	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 207927325.	NM_001163435.3(TBCK):c.2539A>C (p.Ile847Leu) GRCh37: Chr4:107016671 GRCh38: Chr4:106095514	TBCK	I784L, I675L, I808L, I847L	not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 241734626.	NM_001163435.3(TBCK):c.2516A>G (p.Asn839Ser) GRCh37: Chr4:107016694 GRCh38: Chr4:106095537	TBCK	N667S, N776S, N800S, N839S	not provided	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 91619527.	NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) GRCh37: Chr4:107016698 GRCh38: Chr4:106095541	TBCK	Q838, Q666, Q775, Q799	not provided	Conflicting interpretations of pathogenicity (Feb 9, 2022)	criteria provided, conflicting interpretations
Select item 167140828.	NM_001163435.3(TBCK):c.2511C>T (p.Leu837=) GRCh37: Chr4:107016699 GRCh38: Chr4:106095542	TBCK		not provided	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 79969929.	NM_001163435.3(TBCK):c.2506A>G (p.Met836Val) GRCh37: Chr4:107016704 GRCh38: Chr4:106095547	TBCK	M773V, M836V, M664V, M797V	not provided	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 211849530.	NM_001163435.3(TBCK):c.2501C>T (p.Thr834Ile) GRCh37: Chr4:107016709 GRCh38: Chr4:106095552	TBCK	T662I, T771I, T834I, T795I	not provided	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 148238731.	NM_001163435.3(TBCK):c.2500A>T (p.Thr834Ser) GRCh37: Chr4:107016710 GRCh38: Chr4:106095553	TBCK	T795S, T834S, T771S, T662S	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212814632.	NM_001163435.3(TBCK):c.2488C>G (p.Gln830Glu) GRCh37: Chr4:107016722 GRCh38: Chr4:106095565	TBCK	Q658E, Q791E, Q830E, Q767E	not provided	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 146005333.	NM_001163435.3(TBCK):c.2479G>T (p.Glu827Ter) GRCh37: Chr4:107016731 GRCh38: Chr4:106095574	TBCK	E655, E827, E788, E764	not provided	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 141870734.	NM_001163435.3(TBCK):c.2476G>A (p.Gly826Arg) GRCh37: Chr4:107016734 GRCh38: Chr4:106095577	TBCK	G763R, G654R, G826R, G787R	not provided	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 163399035.	NM_001163435.3(TBCK):c.2472A>C (p.Ala824=) GRCh37: Chr4:107016738 GRCh38: Chr4:106095581	TBCK		not provided	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 209685236.	NM_001163435.3(TBCK):c.2468C>A (p.Thr823Asn) GRCh37: Chr4:107016742 GRCh38: Chr4:106095585	TBCK	T651N, T823N, T784N, T760N	not provided	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 129896837.	NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile) GRCh37: Chr4:107016742 GRCh38: Chr4:106095585	TBCK	T651I, T760I, T784I, T823I	not provided	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 196239738.	NM_001163435.3(TBCK):c.2464T>A (p.Phe822Ile) GRCh37: Chr4:107016746 GRCh38: Chr4:106095589	TBCK	F650I, F759I, F783I, F822I	not provided	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 73945339.	NM_001163435.3(TBCK):c.2463C>T (p.Ala821=) GRCh37: Chr4:107016747 GRCh38: Chr4:106095590	TBCK		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 155218740.	NM_001163435.3(TBCK):c.2460T>C (p.Ala820=) GRCh37: Chr4:107016750 GRCh38: Chr4:106095593	TBCK		not provided	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 159938941.	NM_001163435.3(TBCK):c.2446A>C (p.Ile816Leu) GRCh37: Chr4:107016764 GRCh38: Chr4:106095607	TBCK	I644L, I753L, I777L, I816L	not provided, Inborn genetic diseases	Benign/Likely benign (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138931442.	NM_001163435.3(TBCK):c.2446A>G (p.Ile816Val) GRCh37: Chr4:107016764 GRCh38: Chr4:106095607	TBCK	I644V, I777V, I753V, I816V	not provided	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 202260343.	NM_001163435.3(TBCK):c.2433A>G (p.Ser811=) GRCh37: Chr4:107016777 GRCh38: Chr4:106095620	TBCK		not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 102917544.	NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val) GRCh37: Chr4:107016782 GRCh38: Chr4:106095625	TBCK	I771V, I747V, I810V, I638V	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204666945.	NM_001163435.3(TBCK):c.2425C>T (p.His809Tyr) GRCh37: Chr4:107016785 GRCh38: Chr4:106095628	TBCK	H770Y, H637Y, H809Y, H746Y	not provided	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 73437446.	NM_001163435.3(TBCK):c.2421T>C (p.Arg807=) GRCh37: Chr4:107016789 GRCh38: Chr4:106095632	TBCK		not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150027847.	NM_001163435.3(TBCK):c.2420G>A (p.Arg807His) GRCh37: Chr4:107016790 GRCh38: Chr4:106095633	TBCK	R768H, R807H, R635H, R744H	not provided	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 102917448.	NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro) GRCh37: Chr4:107016790 GRCh38: Chr4:106095633	TBCK	R744P, R768P, R807P, R635P	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Inborn genetic diseases, not provided	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150760549.	NM_001163435.3(TBCK):c.2419C>T (p.Arg807Cys) GRCh37: Chr4:107016791 GRCh38: Chr4:106095634	TBCK	R744C, R768C, R807C, R635C	not provided	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 136448350.	NM_001163435.3(TBCK):c.2413T>C (p.Phe805Leu) GRCh37: Chr4:107016797 GRCh38: Chr4:106095640	TBCK	F633L, F742L, F766L, F805L	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 208849951.	NM_001163435.3(TBCK):c.2412-12T>G GRCh37: Chr4:107016810 GRCh38: Chr4:106095653	TBCK		not provided	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 125143552.	NM_001163435.3(TBCK):c.2412-155del GRCh37: Chr4:107016953 GRCh38: Chr4:106095796	TBCK		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 124390353.	NM_001163435.3(TBCK):c.2411+205C>G GRCh37: Chr4:107037155 GRCh38: Chr4:106115998	TBCK		not provided	Benign (May 19, 2021)	criteria provided, single submitter
Select item 163110454.	NM_001163435.3(TBCK):c.2411+20T>C GRCh37: Chr4:107037340 GRCh38: Chr4:106116183	TBCK		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 194913055.	NM_001163435.3(TBCK):c.2411+19G>A GRCh37: Chr4:107037341 GRCh38: Chr4:106116184	TBCK		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 194672256.	NM_001163435.3(TBCK):c.2411+17_2411+19del GRCh37: Chr4:107037341-107037343 GRCh38: Chr4:106116184-106116186	TBCK		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 161746657.	NM_001163435.3(TBCK):c.2411+16G>A GRCh37: Chr4:107037344 GRCh38: Chr4:106116187	TBCK		not provided	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 190270458.	NM_001163435.3(TBCK):c.2411+12A>G GRCh37: Chr4:107037348 GRCh38: Chr4:106116191	TBCK		not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 154194959.	NM_001163435.3(TBCK):c.2411+12A>C GRCh37: Chr4:107037348 GRCh38: Chr4:106116191	TBCK		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 150208360.	NM_001163435.3(TBCK):c.2411+6C>G GRCh37: Chr4:107037354 GRCh38: Chr4:106116197	TBCK		not provided	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 202404061.	NM_001163435.3(TBCK):c.2411+3A>G GRCh37: Chr4:107037357 GRCh38: Chr4:106116200	TBCK		not provided	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 142148462.	NM_001163435.3(TBCK):c.2399G>A (p.Arg800Gln) GRCh37: Chr4:107037372 GRCh38: Chr4:106116215	TBCK	R737Q, R761Q, R628Q, R800Q	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 218728263.	NM_001163435.3(TBCK):c.2398C>T (p.Arg800Trp) GRCh37: Chr4:107037373 GRCh38: Chr4:106116216	TBCK	R761W, R800W, R628W, R737W	not provided	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 74698964.	NM_001163435.3(TBCK):c.2397C>A (p.Ile799=) GRCh37: Chr4:107037374 GRCh38: Chr4:106116217	TBCK		not provided	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 197685365.	NM_001163435.3(TBCK):c.2394C>T (p.Asp798=) GRCh37: Chr4:107037377 GRCh38: Chr4:106116220	TBCK		not provided	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 144272466.	NM_001163435.3(TBCK):c.2380C>T (p.Leu794Phe) GRCh37: Chr4:107037391 GRCh38: Chr4:106116234	TBCK	L622F, L755F, L731F, L794F	not provided	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 102917367.	NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg) GRCh37: Chr4:107037401 GRCh38: Chr4:106116244	TBCK	S727R, S751R, S618R, S790R	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Uncertain significance (Nov 21, 2019)	criteria provided, single submitter
Select item 154364368.	NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly) GRCh37: Chr4:107037403 GRCh38: Chr4:106116246	TBCK	S618G, S727G, S751G, S790G	not provided, Inborn genetic diseases, Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Conflicting interpretations of pathogenicity (Jan 10, 2023)	criteria provided, conflicting interpretations
Select item 197326369.	NM_001163435.3(TBCK):c.2348C>A (p.Pro783His) GRCh37: Chr4:107037423 GRCh38: Chr4:106116266	TBCK	P720H, P611H, P783H, P744H	not provided	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 195110770.	NM_001163435.3(TBCK):c.2345C>T (p.Thr782Ile) GRCh37: Chr4:107037426 GRCh38: Chr4:106116269	TBCK	T719I, T782I, T610I, T743I	not provided	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 212024471.	NM_001163435.3(TBCK):c.2336A>T (p.His779Leu) GRCh37: Chr4:107037435 GRCh38: Chr4:106116278	TBCK	H740L, H607L, H779L, H716L	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 160528472.	NM_001163435.3(TBCK):c.2331A>G (p.Thr777=) GRCh37: Chr4:107037440 GRCh38: Chr4:106116283	TBCK		not provided	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 211794273.	NM_001163435.3(TBCK):c.2330C>A (p.Thr777Lys) GRCh37: Chr4:107037441 GRCh38: Chr4:106116284	TBCK	T605K, T714K, T738K, T777K	not provided	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 219546774.	NM_001163435.3(TBCK):c.2314T>A (p.Cys772Ser) GRCh37: Chr4:107037457 GRCh38: Chr4:106116300	TBCK	C733S, C709S, C772S, C600S	not provided	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 193374175.	NM_001163435.3(TBCK):c.2313G>A (p.Leu771=) GRCh37: Chr4:107037458 GRCh38: Chr4:106116301	TBCK		not provided	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 228721176.	NM_001163435.3(TBCK):c.2308G>A (p.Asp770Asn) GRCh37: Chr4:107037463 GRCh38: Chr4:106116306	TBCK	D598N, D707N, D731N, D770N	Inborn genetic diseases	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 137221877.	NM_001163435.3(TBCK):c.2301C>A (p.Asp767Glu) GRCh37: Chr4:107037470 GRCh38: Chr4:106116313	TBCK	D704E, D728E, D767E, D595E	not provided	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 161720678.	NM_001163435.3(TBCK):c.2286G>C (p.Arg762=) GRCh37: Chr4:107037485 GRCh38: Chr4:106116328	TBCK		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 136430479.	NM_001163435.3(TBCK):c.2285G>T (p.Arg762Leu) GRCh37: Chr4:107037486 GRCh38: Chr4:106116329	TBCK	R590L, R699L, R723L, R762L	not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 103375180.	NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp) GRCh37: Chr4:107037487 GRCh38: Chr4:106116330	TBCK	R699W, R590W, R723W, R762W	not provided, Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208733881.	NM_001163435.3(TBCK):c.2274A>G (p.Glu758=) GRCh37: Chr4:107037497 GRCh38: Chr4:106116340	TBCK		not provided	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 167595482.	NM_001163435.3(TBCK):c.2271A>G (p.Ser757=) GRCh37: Chr4:107037500 GRCh38: Chr4:106116343	TBCK		not provided	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 223077983.	NM_001163435.3(TBCK):c.2269T>G (p.Ser757Ala) GRCh37: Chr4:107037502 GRCh38: Chr4:106116345	TBCK	S585A, S757A, S718A, S694A	Inborn genetic diseases	Uncertain significance (Jun 1, 2021)	criteria provided, single submitter
Select item 139109684.	NM_001163435.3(TBCK):c.2260G>A (p.Asp754Asn) GRCh37: Chr4:107037511 GRCh38: Chr4:106116354	TBCK	D691N, D582N, D715N, D754N	not provided	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 163456185.	NM_001163435.3(TBCK):c.2253A>C (p.Pro751=) GRCh37: Chr4:107037518 GRCh38: Chr4:106116361	TBCK		not provided	Likely benign (Aug 9, 2021)	criteria provided, single submitter
Select item 130514986.	NM_001163435.3(TBCK):c.2252del (p.Pro751fs) GRCh37: Chr4:107037519 GRCh38: Chr4:106116362	TBCK	P579fs, P688fs, P712fs, P751fs	not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 162544387.	NM_001163435.3(TBCK):c.2236-4dup GRCh37: Chr4:107037538-107037539 GRCh38: Chr4:106116381-106116382	TBCK		not provided	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 159791588.	NM_001163435.3(TBCK):c.2236-4del GRCh37: Chr4:107037539 GRCh38: Chr4:106116382	TBCK		not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 196811289.	NM_001163435.3(TBCK):c.2236-14A>G GRCh37: Chr4:107037549 GRCh38: Chr4:106116392	TBCK		not provided	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 203445990.	NM_001163435.3(TBCK):c.2236-18G>A GRCh37: Chr4:107037553 GRCh38: Chr4:106116396	TBCK		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 116886291.	NM_001163435.3(TBCK):c.2236-27dup GRCh37: Chr4:107037553-107037554 GRCh38: Chr4:106116396-106116397	TBCK		not provided	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 190980892.	NM_001163435.3(TBCK):c.2236-19T>G GRCh37: Chr4:107037554 GRCh38: Chr4:106116397	TBCK		not provided	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 161797093.	NM_001163435.3(TBCK):c.2236-19del GRCh37: Chr4:107037554 GRCh38: Chr4:106116397	TBCK		not provided	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 128112694.	NM_001163435.3(TBCK):c.2236-95G>A GRCh37: Chr4:107037630 GRCh38: Chr4:106116473	TBCK		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 125314695.	NM_001163435.3(TBCK):c.2236-120T>C GRCh37: Chr4:107037655 GRCh38: Chr4:106116498	TBCK		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 97802896.	NM_001163435.3(TBCK):c.2060-6793_2235+427del GRCh37: Chr4:107091825-107099220 GRCh38: Chr4:106170668-106178063	TBCK		Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Pathogenic (May 19, 2020)	criteria provided, single submitter
Select item 257917797.	GRCh38/hg38 4q24(chr4:106170998-106171368)x0 GRCh38: Chr4:106170998-106171368	TBCK		Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 126857898.	NM_001163435.3(TBCK):c.2235+83T>C GRCh37: Chr4:107092169 GRCh38: Chr4:106171012	TBCK		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 191078199.	NM_001163435.3(TBCK):c.2235+19A>T GRCh37: Chr4:107092233 GRCh38: Chr4:106171076	TBCK		not provided	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 1606170100.	NM_001163435.3(TBCK):c.2235+19A>C GRCh37: Chr4:107092233 GRCh38: Chr4:106171076	TBCK		not provided	Likely benign (May 14, 2021)	criteria provided, single submitter

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