1629[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1463501.	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 GRCh37: Chr1:83923008-104816539 GRCh38: Chr1:83457325-104273917	LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC126805781, LOC126805782, LOC126805783, LOC126805784, LOC126805785, LOC126805786, LOC126805787, LOC126805788, LOC126805789, LOC126805790, LOC126805791, LOC126805792, LOC126805793, LOC126805794, LOC126805795, LOC126805796, LOC126805797, LOC126805798, LOC126805799, LOC126805800, LOC126805801, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC128092251, LOC129388556, LOC129388557, LOC129388558, LOC129388559, LOC129388560, LOC129388561, LOC129388562, LOC129388563, LOC129388564, LOC129388565, LOC129388566, LOC129388567, LOC129388568, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847, LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC129930882, LOC129930883, LOC129930884, LOC129930885, LOC129930886, LOC129930887, LOC129930888, LOC129930889, LOC129930890, LOC129930891, LOC129930892, LOC129930893, LOC129930894, LOC129930895, LOC129930896, LOC129930897, LOC129930898, LOC129930899, LOC129930900, LOC129930901, LOC129930902, LOC129930903, LOC129930904, LOC129930905, LOC129930906, LOC129930907, LOC129930908, LOC129930909, LOC129930910, LOC129930911, LOC129930912, LOC129930913, LOC129930914, LOC129930915, LOC129930916, LOC129930917, LOC129930918, LOC129930919, LOC129930920, LOC129930921, LOC129930922, LOC129930923, LOC129930924, LOC129930925, LOC129930926, LOC129930927, LOC129930928, LOC129930929, LOC129930930, LOC129930931, LOC129930932, LOC129930933, LOC129930934, LOC129930935, LOC129930936, LOC129930937, LOC129930938, LOC129930939, LOC129930940, LOC129930941, LOC129930942, LOC129930943, LOC129930944, LOC129930945, LOC129930946, LOC129930947, LOC129930948, LOC129930949, LOC129930950, LOC129930951, LOC129930952, LOC129930953, LOC129930954, LOC129930955, LOC129930956, LOC129930957, LOC129930958, LOC129930959, LOC129930960, LOC129930961, LOC129930962, LOC129930963, LOC129930964, LOC129930965, LOC129930966, LOC129930967, LOC129930968, LOC129930969, LOC129930970, LOC129930971, LOC129930972, LOC129930973, LOC129930974, LOC129930975, LOC129930976, LOC129930977, LOC129930978, LOC129930979, LOC129930980, LOC129930981, LOC129930982, LOC129930983, LOC129930984, LOC129930985, LOC129930986, LOC129930987, LOC129930988, LOC129930989, LOC129930990, LOC129930991, LOC129930992, LOC129930993, LOC129930994, LOC129930995, LOC129930996, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132088743, LOC132088745, LOC132088747, LOC132090665, LPAR3, LRRC39, LRRC8B, LRRC8C, LRRC8C-DT, LRRC8D, LRRC8D-DT, MCOLN2, MCOLN3, MFSD14A, MIR12133, MIR137, MIR137HG, MIR2682, MIR378G, MIR4423, MIR553, MIR760, MIR7856, MTF2, ODF2L, OLFM3, PALMD, PKN2, PKN2-AS1, PLPPR4, PLPPR5, PLPPR5-AS1, PRKACB, PTBP2, RBMXL1, RNPC3, RNPC3-DT, RPAP2, RPF1, RPL5, RTCA, RTCA-AS1, RWDD3, RWDD3-DT, S1PR1, S1PR1-DT, SAMD13, SASS6, SELENOF, SETSIP, SH3GLB1, SLC30A7, SLC35A3, SLC44A3, SLC44A3-AS1, SNORA66, SNORD21, SNORD3G, SNX7, SPATA1, SSX2IP, SYDE2, TGFBR3, TLCD4, TLCD4-RWDD3, TMED5, TRC-GCA7-1, TRMT13, TRR-TCT1-1, TTLL7, TTLL7-IT1, VCAM1, ZNF326, ZNF644, ZNHIT6, ABCA4, ABCD3, AGL, ALG14, ALG14-AS1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ARHGAP29, BARHL2, BCAR3, BCAR3-AS1, BCL10, BCL10-AS1, BRDT, BTBD8, C1orf146, C1orf52, CCDC18, CCDC18-AS1, CCN1, CDC14A, CDC7, CLCA1, CLCA2, CLCA4, CLCA4-AS1, CNN3, CNN3-DT, COL11A1, COL24A1, CTBS, DBT, DDAH1, DIPK1A, DNAI3, DNASE2B, DNTTIP2, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, DR1, EPHX4, EVI5, EXTL2, F3, FNBP1L, FRRS1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GFI1, GLMN, GNG5, GPR88, GTF2B, HFM1, HS2ST1, KYAT3, LINC01140, LINC01307, LINC01349, LINC01364, LINC01461, LINC01555, LINC01650, LINC01708, LINC01709, LINC01725, LINC01760, LINC01761, LINC01763, LINC01776, LINC01787, LINC01930, LINC02607, LINC02609, LINC02787, LINC02788, LINC02790, LINC02795, LINC02801, LMO4, LOC101927560, LOC107457601, LOC110120602, LOC110120664, LOC110120716, LOC110120739, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC111556158, LOC112590824, LOC112590826, LOC112590827, LOC112590828, LOC113939989, LOC115801431, LOC115801432, LOC115801433, LOC115801434, LOC115801435, LOC115801436, LOC120893144, LOC120893145, LOC120893146, LOC120893147, LOC120893148, LOC121725035, LOC121725036, LOC121725037, LOC121725038, LOC121725039, LOC121725040, LOC121725041, LOC121725042, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC122094860, LOC122094861, LOC122094862, LOC122094863, LOC122094864, LOC122094865, LOC122094866, LOC122094867, LOC122094868, LOC122094869, LOC122094870, LOC122094871, LOC122094872, LOC122094873, LOC122094874, LOC122094875, LOC122094876, LOC122094877, LOC122094878, LOC122094879, LOC122094880, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890		See cases	Pathogenic (Feb 18, 2011)	no assertion criteria provided
Select item 1460072.	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 GRCh37: Chr1:97737905-109435760 GRCh38: Chr1:97272349-108893138	AGL, AKNAD1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, CDC14A, COL11A1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, EEIG2, EXTL2, FNDC7, FRRS1, GPR88, GPSM2, HENMT1, LINC01307, LINC01349, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC111556158, LOC112577470, LOC115801437, LOC120893148, LOC120893149, LOC120893150, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LRRC39, MFSD14A, MIR137, MIR137HG, MIR2682, MIR553, MIR7852, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PRPF38B, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SASS6, SLC25A24, SLC30A7, SLC35A3, SNX7, SPATA42, STXBP3, TRMT13, VAV3, VAV3-AS1, VCAM1		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 600053.	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 GRCh37: Chr1:97876158-111213132 GRCh38: Chr1:97410602-110670510	AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 12925624.	NC_000001.11:g.100186848_100186849insACACAT GRCh37: Chr1:100652404-100652405 GRCh38: Chr1:100186848-100186849	DBT		not provided	Benign (Apr 13, 2020)	criteria provided, single submitter
Select item 12907385.	NC_000001.11:g.100186848_100186849insAT GRCh37: Chr1:100652404-100652405 GRCh38: Chr1:100186848-100186849	DBT		not provided	Benign (Feb 13, 2020)	criteria provided, single submitter
Select item 12613496.	NC_000001.11:g.100186848C>T GRCh37: Chr1:100652404 GRCh38: Chr1:100186848	DBT		not provided	Benign (Mar 3, 2020)	criteria provided, single submitter
Select item 12574317.	NC_000001.11:g.100186848_100186849insACAT GRCh37: Chr1:100652404-100652405 GRCh38: Chr1:100186848-100186849	DBT		not provided	Benign (Oct 29, 2020)	criteria provided, single submitter
Select item 8742408.	NM_001918.5(DBT):c.*9230T>C GRCh37: Chr1:100652581 GRCh38: Chr1:100187025	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8742419.	NM_001918.5(DBT):c.*9228C>T GRCh37: Chr1:100652583 GRCh38: Chr1:100187027	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29137310.	NM_001918.5(DBT):c.9153_9156del GRCh37: Chr1:100652655-100652658 GRCh38: Chr1:100187099-100187102	DBT		Maple syrup urine disease	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 87516411.	NM_001918.5(DBT):c.*9123A>G GRCh37: Chr1:100652688 GRCh38: Chr1:100187132	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29137412.	NM_001918.5(DBT):c.*9105A>G GRCh37: Chr1:100652706 GRCh38: Chr1:100187150	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29137513.	NM_001918.5(DBT):c.*9082C>T GRCh37: Chr1:100652729 GRCh38: Chr1:100187173	DBT		Maple syrup urine disease, not provided	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29137614.	NM_001918.5(DBT):c.*9058C>T GRCh37: Chr1:100652753 GRCh38: Chr1:100187197	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29137715.	NM_001918.5(DBT):c.*8983dup GRCh37: Chr1:100652827-100652828 GRCh38: Chr1:100187271-100187272	DBT		Maple syrup urine disease	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29137816.	NM_001918.5(DBT):c.*8977T>C GRCh37: Chr1:100652834 GRCh38: Chr1:100187278	DBT		Maple syrup urine disease	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87516517.	NM_001918.5(DBT):c.*8944A>G GRCh37: Chr1:100652867 GRCh38: Chr1:100187311	DBT		Maple syrup urine disease	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29137918.	NM_001918.5(DBT):c.*8900A>T GRCh37: Chr1:100652911 GRCh38: Chr1:100187355	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87516619.	NM_001918.5(DBT):c.*8830T>C GRCh37: Chr1:100652981 GRCh38: Chr1:100187425	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29138020.	NM_001918.5(DBT):c.*8734A>C GRCh37: Chr1:100653077 GRCh38: Chr1:100187521	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87613421.	NM_001918.5(DBT):c.*8670A>G GRCh37: Chr1:100653141 GRCh38: Chr1:100187585	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87613522.	NM_001918.5(DBT):c.*8663T>C GRCh37: Chr1:100653148 GRCh38: Chr1:100187592	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29138123.	NM_001918.5(DBT):c.*8642C>G GRCh37: Chr1:100653169 GRCh38: Chr1:100187613	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29138224.	NM_001918.5(DBT):c.*8607G>A GRCh37: Chr1:100653204 GRCh38: Chr1:100187648	DBT		Maple syrup urine disease	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 29138325.	NM_001918.5(DBT):c.*8554dup GRCh37: Chr1:100653256-100653257 GRCh38: Chr1:100187700-100187701	DBT		not provided, Maple syrup urine disease	Conflicting interpretations of pathogenicity (Mar 17, 2021)	criteria provided, conflicting interpretations
Select item 119536426.	NM_001918.5(DBT):c.*8554del GRCh37: Chr1:100653257 GRCh38: Chr1:100187701	DBT		not provided	Likely benign (Mar 3, 2020)	criteria provided, single submitter
Select item 29138427.	NM_001918.5(DBT):c.8552_8553insT GRCh37: Chr1:100653258-100653259 GRCh38: Chr1:100187702-100187703	DBT		Maple syrup urine disease	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 87613628.	NM_001918.5(DBT):c.*8552A>T GRCh37: Chr1:100653259 GRCh38: Chr1:100187703	DBT		Maple syrup urine disease, not provided	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87613729.	NM_001918.5(DBT):c.*8471T>C GRCh37: Chr1:100653340 GRCh38: Chr1:100187784	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29138530.	NM_001918.5(DBT):c.*8385A>C GRCh37: Chr1:100653426 GRCh38: Chr1:100187870	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29138631.	NM_001918.5(DBT):c.*8275A>G GRCh37: Chr1:100653536 GRCh38: Chr1:100187980	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29138732.	NM_001918.5(DBT):c.*8226G>T GRCh37: Chr1:100653585 GRCh38: Chr1:100188029	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87627233.	NM_001918.5(DBT):c.*8118T>C GRCh37: Chr1:100653693 GRCh38: Chr1:100188137	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87627334.	NM_001918.5(DBT):c.*8083C>T GRCh37: Chr1:100653728 GRCh38: Chr1:100188172	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87627435.	NM_001918.5(DBT):c.*8080C>G GRCh37: Chr1:100653731 GRCh38: Chr1:100188175	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87627536.	NM_001918.5(DBT):c.*8074G>A GRCh37: Chr1:100653737 GRCh38: Chr1:100188181	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29138837.	NM_001918.5(DBT):c.*8073C>T GRCh37: Chr1:100653738 GRCh38: Chr1:100188182	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87627638.	NM_001918.5(DBT):c.*7942G>A GRCh37: Chr1:100653869 GRCh38: Chr1:100188313	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87428539.	NM_001918.5(DBT):c.*7698C>T GRCh37: Chr1:100654113 GRCh38: Chr1:100188557	DBT		Maple syrup urine disease	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87428640.	NM_001918.5(DBT):c.*7690T>C GRCh37: Chr1:100654121 GRCh38: Chr1:100188565	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 125897741.	NM_001918.5(DBT):c.7679_7681dup GRCh37: Chr1:100654129-100654130 GRCh38: Chr1:100188573-100188574	DBT		not provided	Benign (Jan 14, 2021)	criteria provided, single submitter
Select item 87428742.	NM_001918.5(DBT):c.*7469T>C GRCh37: Chr1:100654342 GRCh38: Chr1:100188786	DBT, LOC129931021		Maple syrup urine disease	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 87428843.	NM_001918.5(DBT):c.*7369G>A GRCh37: Chr1:100654442 GRCh38: Chr1:100188886	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87428944.	NM_001918.5(DBT):c.*7358C>T GRCh37: Chr1:100654453 GRCh38: Chr1:100188897	DBT		Maple syrup urine disease	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 29138945.	NM_001918.5(DBT):c.*7307G>C GRCh37: Chr1:100654504 GRCh38: Chr1:100188948	DBT		Maple syrup urine disease	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87429046.	NM_001918.5(DBT):c.*7223C>T GRCh37: Chr1:100654588 GRCh38: Chr1:100189032	DBT		Maple syrup urine disease	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 29139047.	NM_001918.5(DBT):c.*7187G>A GRCh37: Chr1:100654624 GRCh38: Chr1:100189068	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 120082148.	NM_001918.5(DBT):c.6902_6903del GRCh37: Chr1:100654908-100654909 GRCh38: Chr1:100189352-100189353	DBT		not provided	Likely benign (Mar 3, 2020)	criteria provided, single submitter
Select item 29139249.	NM_001918.5(DBT):c.*6903T>A GRCh37: Chr1:100654908 GRCh38: Chr1:100189352	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29139150.	NM_001918.5(DBT):c.*6903del GRCh37: Chr1:100654908 GRCh38: Chr1:100189352	DBT		not provided, Maple syrup urine disease	Conflicting interpretations of pathogenicity (Feb 13, 2020)	criteria provided, conflicting interpretations
Select item 87522151.	NM_001918.5(DBT):c.*6902T>A GRCh37: Chr1:100654909 GRCh38: Chr1:100189353	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29139352.	NM_001918.5(DBT):c.*6901T>A GRCh37: Chr1:100654910 GRCh38: Chr1:100189354	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87522353.	NM_001918.5(DBT):c.*6771A>C GRCh37: Chr1:100655040 GRCh38: Chr1:100189484	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87522254.	NM_001918.5(DBT):c.*6771A>G GRCh37: Chr1:100655040 GRCh38: Chr1:100189484	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87522455.	NM_001918.5(DBT):c.*6716C>G GRCh37: Chr1:100655095 GRCh38: Chr1:100189539	DBT		Maple syrup urine disease	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29139456.	NM_001918.5(DBT):c.*6646G>T GRCh37: Chr1:100655165 GRCh38: Chr1:100189609	DBT		Maple syrup urine disease, not provided	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87522557.	NM_001918.5(DBT):c.*6413C>T GRCh37: Chr1:100655398 GRCh38: Chr1:100189842	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87617758.	NM_001918.5(DBT):c.*6270A>G GRCh37: Chr1:100655541 GRCh38: Chr1:100189985	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29139559.	NM_001918.5(DBT):c.*6228A>T GRCh37: Chr1:100655583 GRCh38: Chr1:100190027	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29139660.	NM_001918.5(DBT):c.6114_6115del GRCh37: Chr1:100655696-100655697 GRCh38: Chr1:100190140-100190141	DBT		not provided, Maple syrup urine disease	Conflicting interpretations of pathogenicity (Jun 29, 2018)	criteria provided, conflicting interpretations
Select item 87617861.	NM_001918.5(DBT):c.*5969C>T GRCh37: Chr1:100655842 GRCh38: Chr1:100190286	DBT		Maple syrup urine disease	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87617962.	NM_001918.5(DBT):c.*5959A>G GRCh37: Chr1:100655852 GRCh38: Chr1:100190296	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29139763.	NM_001918.5(DBT):c.*5919A>G GRCh37: Chr1:100655892 GRCh38: Chr1:100190336	DBT		Maple syrup urine disease, not provided	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29139864.	NM_001918.5(DBT):c.*5877G>C GRCh37: Chr1:100655934 GRCh38: Chr1:100190378	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29139965.	NM_001918.5(DBT):c.*5875T>G GRCh37: Chr1:100655936 GRCh38: Chr1:100190380	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29140066.	NM_001918.5(DBT):c.*5838G>A GRCh37: Chr1:100655973 GRCh38: Chr1:100190417	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87632167.	NM_001918.5(DBT):c.*5784T>C GRCh37: Chr1:100656027 GRCh38: Chr1:100190471	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29140168.	NM_001918.5(DBT):c.*5638C>T GRCh37: Chr1:100656173 GRCh38: Chr1:100190617	DBT		Maple syrup urine disease	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29140269.	NM_001918.5(DBT):c.*5591T>C GRCh37: Chr1:100656220 GRCh38: Chr1:100190664	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29140370.	NM_001918.5(DBT):c.*5561A>G GRCh37: Chr1:100656250 GRCh38: Chr1:100190694	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29140471.	NM_001918.5(DBT):c.*5546G>A GRCh37: Chr1:100656265 GRCh38: Chr1:100190709	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87632272.	NM_001918.5(DBT):c.*5380G>C GRCh37: Chr1:100656431 GRCh38: Chr1:100190875	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87632373.	NM_001918.5(DBT):c.*5347C>T GRCh37: Chr1:100656464 GRCh38: Chr1:100190908	DBT		Maple syrup urine disease	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29140574.	NM_001918.5(DBT):c.*5328C>G GRCh37: Chr1:100656483 GRCh38: Chr1:100190927	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29140675.	NM_001918.5(DBT):c.*5317T>C GRCh37: Chr1:100656494 GRCh38: Chr1:100190938	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29140776.	NM_001918.5(DBT):c.*5150A>G GRCh37: Chr1:100656661 GRCh38: Chr1:100191105	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29140877.	NM_001918.5(DBT):c.*4872A>G GRCh37: Chr1:100656939 GRCh38: Chr1:100191383	DBT		Maple syrup urine disease	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87435178.	NM_001918.5(DBT):c.*4864C>T GRCh37: Chr1:100656947 GRCh38: Chr1:100191391	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87435279.	NM_001918.5(DBT):c.*4688G>T GRCh37: Chr1:100657123 GRCh38: Chr1:100191567	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87527580.	NM_001918.5(DBT):c.*4576G>A GRCh37: Chr1:100657235 GRCh38: Chr1:100191679	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87435381.	NM_001918.5(DBT):c.*4576G>C GRCh37: Chr1:100657235 GRCh38: Chr1:100191679	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 125138682.	NM_001918.5(DBT):c.4480_4507del GRCh37: Chr1:100657304-100657331 GRCh38: Chr1:100191748-100191775	DBT		not provided	Benign (Apr 13, 2020)	criteria provided, single submitter
Select item 125074483.	NM_001918.5(DBT):c.4478_4507del GRCh37: Chr1:100657304-100657333 GRCh38: Chr1:100191748-100191777	DBT		not provided	Benign (Mar 3, 2020)	criteria provided, single submitter
Select item 122872684.	NM_001918.5(DBT):c.4482_4507del GRCh37: Chr1:100657304-100657329 GRCh38: Chr1:100191748-100191773	DBT		not provided	Benign (Feb 26, 2021)	criteria provided, single submitter
Select item 29140985.	NM_001918.5(DBT):c.*4507T>C GRCh37: Chr1:100657304 GRCh38: Chr1:100191748	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29141086.	NM_001918.5(DBT):c.*4506A>G GRCh37: Chr1:100657305 GRCh38: Chr1:100191749	DBT		Maple syrup urine disease	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 132725787.	NM_001918.5(DBT):c.*4448GT[19] GRCh37: Chr1:100657306-100657325 GRCh38: Chr1:100191750-100191769	DBT		not provided	Benign (Dec 1, 2021)	criteria provided, single submitter
Select item 29141188.	NM_001918.5(DBT):c.*4446C>G GRCh37: Chr1:100657365 GRCh38: Chr1:100191809	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87527689.	NM_001918.5(DBT):c.*4425C>A GRCh37: Chr1:100657386 GRCh38: Chr1:100191830	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29141290.	NM_001918.5(DBT):c.*4395G>A GRCh37: Chr1:100657416 GRCh38: Chr1:100191860	DBT		not provided, Maple syrup urine disease	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29141391.	NM_001918.5(DBT):c.*4377C>G GRCh37: Chr1:100657434 GRCh38: Chr1:100191878	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29141492.	NM_001918.5(DBT):c.*4321G>T GRCh37: Chr1:100657490 GRCh38: Chr1:100191934	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87623193.	NM_001918.5(DBT):c.*4313G>A GRCh37: Chr1:100657498 GRCh38: Chr1:100191942	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87623294.	NM_001918.5(DBT):c.*4291C>A GRCh37: Chr1:100657520 GRCh38: Chr1:100191964	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29141595.	NM_001918.5(DBT):c.*4281del GRCh37: Chr1:100657530 GRCh38: Chr1:100191974	DBT		Maple syrup urine disease	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29141696.	NM_001918.5(DBT):c.*4273C>A GRCh37: Chr1:100657538 GRCh38: Chr1:100191982	DBT		Maple syrup urine disease	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87623397.	NM_001918.5(DBT):c.*4250C>T GRCh37: Chr1:100657561 GRCh38: Chr1:100192005	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87623498.	NM_001918.5(DBT):c.*4237A>C GRCh37: Chr1:100657574 GRCh38: Chr1:100192018	DBT		Maple syrup urine disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29141799.	NM_001918.5(DBT):c.*4124C>A GRCh37: Chr1:100657687 GRCh38: Chr1:100192131	DBT		Maple syrup urine disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 876235100.	NM_001918.5(DBT):c.*4094C>A GRCh37: Chr1:100657717 GRCh38: Chr1:100192161	DBT		Maple syrup urine disease	Benign (Apr 27, 2017)	criteria provided, single submitter

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