1806[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 1484542.	GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1 GRCh37: Chr1:96590001-99560081 GRCh38: Chr1:96124445-99094525	DPYD, DPYD-AS1, DPYD-AS2, LINC01776, LINC01787, LINC01930, LOC110120739, LOC122094879, LOC122094880, LOC126805801, LOC126805802, LOC126805803, LOC126805804, LOC129930994, LOC129930995, LOC129930996, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, MIR137, MIR137HG, MIR2682, PLPPR5, PLPPR5-AS1, PTBP2, SNX7		See cases	Uncertain significance (May 19, 2011)	no assertion criteria provided
Select item 599733.	GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1 GRCh37: Chr1:97019962-98384614 GRCh38: Chr1:96554406-97919058	DPYD, DPYD-AS1, DPYD-AS2, LOC110120739, LOC122094880, LOC129930994, LOC129930995, LOC129930996, LOC129930997, PTBP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1442714.	GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1 GRCh37: Chr1:97266403-98223619 GRCh38: Chr1:96800847-97758063	DPYD, DPYD-AS1, LOC110120739, LOC129930996, PTBP2		See cases	Uncertain significance (Jun 30, 2010)	no assertion criteria provided
Select item 8768785.	NM_000110.4(DPYD):c.*1189G>A GRCh37: Chr1:97543343 GRCh38: Chr1:97077787	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8768796.	NM_000110.4(DPYD):c.*1153A>G GRCh37: Chr1:97543379 GRCh38: Chr1:97077823	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8768807.	NM_000110.4(DPYD):c.*1062A>G GRCh37: Chr1:97543470 GRCh38: Chr1:97077914	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8768818.	NM_000110.4(DPYD):c.*1050A>T GRCh37: Chr1:97543482 GRCh38: Chr1:97077926	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 2982709.	NM_000110.4(DPYD):c.*1046C>A GRCh37: Chr1:97543486 GRCh38: Chr1:97077930	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87407710.	NM_000110.4(DPYD):c.*1010T>G GRCh37: Chr1:97543522 GRCh38: Chr1:97077966	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87407811.	NM_000110.4(DPYD):c.*1000A>G GRCh37: Chr1:97543532 GRCh38: Chr1:97077976	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 10006112.	NM_000110.4(DPYD):c.*961A>G GRCh37: Chr1:97543571 GRCh38: Chr1:97078015	DPYD		not provided	not provided	no assertion provided
Select item 10006213.	NM_000110.4(DPYD):c.*911A>G GRCh37: Chr1:97543621 GRCh38: Chr1:97078065	DPYD		not provided	not provided	no assertion provided
Select item 10006314.	NM_000110.4(DPYD):c.*900T>C GRCh37: Chr1:97543632 GRCh38: Chr1:97078076	DPYD		Dihydropyrimidine dehydrogenase deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29827115.	NM_000110.4(DPYD):c.*852C>T GRCh37: Chr1:97543680 GRCh38: Chr1:97078124	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29827216.	NM_000110.4(DPYD):c.*783G>T GRCh37: Chr1:97543749 GRCh38: Chr1:97078193	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 10006417.	NM_000110.4(DPYD):c.*780C>T GRCh37: Chr1:97543752 GRCh38: Chr1:97078196	DPYD		Dihydropyrimidine dehydrogenase deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 10006518.	NM_000110.4(DPYD):c.*768G>A GRCh37: Chr1:97543764 GRCh38: Chr1:97078208	DPYD		Dihydropyrimidine dehydrogenase deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 10006619.	NM_000110.4(DPYD):c.*736A>T GRCh37: Chr1:97543796 GRCh38: Chr1:97078240	DPYD		not provided	not provided	no assertion provided
Select item 87500820.	NM_000110.4(DPYD):c.*673G>A GRCh37: Chr1:97543859 GRCh38: Chr1:97078303	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29827321.	NM_000110.4(DPYD):c.*665G>A GRCh37: Chr1:97543867 GRCh38: Chr1:97078311	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87500922.	NM_000110.4(DPYD):c.*635T>A GRCh37: Chr1:97543897 GRCh38: Chr1:97078341	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87501023.	NM_000110.4(DPYD):c.*626G>A GRCh37: Chr1:97543906 GRCh38: Chr1:97078350	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 29827424.	NM_000110.4(DPYD):c.*586C>T GRCh37: Chr1:97543946 GRCh38: Chr1:97078390	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 10006725.	NM_000110.4(DPYD):c.*573G>A GRCh37: Chr1:97543959 GRCh38: Chr1:97078403	DPYD		Dihydropyrimidine dehydrogenase deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87501126.	NM_000110.4(DPYD):c.*503A>T GRCh37: Chr1:97544029 GRCh38: Chr1:97078473	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87593327.	NM_000110.4(DPYD):c.*476G>A GRCh37: Chr1:97544056 GRCh38: Chr1:97078500	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87593428.	NM_000110.4(DPYD):c.*458T>A GRCh37: Chr1:97544074 GRCh38: Chr1:97078518	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29827529.	NM_000110.4(DPYD):c.*432T>A GRCh37: Chr1:97544100 GRCh38: Chr1:97078544	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87593530.	NM_000110.4(DPYD):c.*416C>A GRCh37: Chr1:97544116 GRCh38: Chr1:97078560	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 87593631.	NM_000110.4(DPYD):c.*390A>G GRCh37: Chr1:97544142 GRCh38: Chr1:97078586	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 29827632.	NM_000110.4(DPYD):c.*282A>G GRCh37: Chr1:97544250 GRCh38: Chr1:97078694	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29827733.	NM_000110.4(DPYD):c.*274T>C GRCh37: Chr1:97544258 GRCh38: Chr1:97078702	DPYD		not provided, Dihydropyrimidine dehydrogenase deficiency	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29827834.	NM_000110.4(DPYD):c.*242G>A GRCh37: Chr1:97544290 GRCh38: Chr1:97078734	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29827935.	NM_000110.4(DPYD):c.*193A>C GRCh37: Chr1:97544339 GRCh38: Chr1:97078783	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 10006836.	NM_000110.4(DPYD):c.*173T>C GRCh37: Chr1:97544359 GRCh38: Chr1:97078803	DPYD		not provided	not provided	no assertion provided
Select item 87692437.	NM_000110.4(DPYD):c.*159A>G GRCh37: Chr1:97544373 GRCh38: Chr1:97078817	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87692538.	NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser) GRCh37: Chr1:97544543 GRCh38: Chr1:97078987	DPYD	P1023S	Inborn genetic diseases, not specified, Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10006939.	NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) GRCh37: Chr1:97544543 GRCh38: Chr1:97078987	DPYD	P1023T	not specified, not provided, Dihydropyrimidine dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Dec 10, 2021)	criteria provided, conflicting interpretations
Select item 179927840.	NM_000110.4(DPYD):c.3052C>G (p.Pro1018Ala) GRCh37: Chr1:97544558 GRCh38: Chr1:97079002	DPYD	P1018A	Inborn genetic diseases	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 179922441.	NM_000110.4(DPYD):c.3049G>A (p.Val1017Ile) GRCh37: Chr1:97544561 GRCh38: Chr1:97079005	DPYD	V1017I	Inborn genetic diseases	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 242912242.	NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs) GRCh37: Chr1:97544569-97544570 GRCh38: Chr1:97079013-97079014	DPYD	K1014fs	not specified	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 167711743.	NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter) GRCh37: Chr1:97544576 GRCh38: Chr1:97079020	DPYD	E1012*	not specified	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 55583144.	NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs) GRCh37: Chr1:97544578-97544579 GRCh38: Chr1:97079022-97079023	DPYD	Y1011fs	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Dec 28, 2017)	criteria provided, single submitter
Select item 105056845.	NM_000110.4(DPYD):c.2998G>A (p.Asp1000Asn) GRCh37: Chr1:97544612 GRCh38: Chr1:97079056	DPYD	D1000N	not provided	Uncertain significance	no assertion criteria provided
Select item 263893546.	NM_000110.4(DPYD):c.2994T>C (p.Ile998=) GRCh37: Chr1:97544616 GRCh38: Chr1:97079060	DPYD		not provided	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 220422847.	NM_000110.4(DPYD):c.2992A>G (p.Ile998Val) GRCh37: Chr1:97544618 GRCh38: Chr1:97079062	DPYD	I998V	Inborn genetic diseases	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 10007048.	NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) GRCh37: Chr1:97544623 GRCh38: Chr1:97079067	DPYD	C996Y	not provided	not provided	no assertion provided
Select item 63526749.	NM_000110.4(DPYD):c.2983G>T (p.Val995Phe) GRCh37: Chr1:97544627 GRCh38: Chr1:97079071	DPYD	V995F	fluorouracil response - Other	drug response (Mar 24, 2021)	reviewed by expert panel
Select item 187827050.	NM_000110.4(DPYD):c.2976T>C (p.Cys992=) GRCh37: Chr1:97544634 GRCh38: Chr1:97079078	DPYD		not specified	Likely benign (Dec 11, 2022)	criteria provided, single submitter
Select item 131437751.	NM_000110.4(DPYD):c.2975G>A (p.Cys992Tyr) GRCh37: Chr1:97544635 GRCh38: Chr1:97079079	DPYD	C992Y	not provided	Uncertain significance (Apr 7, 2021)	criteria provided, single submitter
Select item 179805652.	NM_000110.4(DPYD):c.2950G>A (p.Asp984Asn) GRCh37: Chr1:97544660 GRCh38: Chr1:97079104	DPYD	D984N	Inborn genetic diseases	Uncertain significance (Jul 7, 2021)	criteria provided, single submitter
Select item 256129953.	NM_000110.4(DPYD):c.2948C>T (p.Thr983Ile) GRCh37: Chr1:97544662 GRCh38: Chr1:97079106	DPYD	T983I	Inborn genetic diseases	Uncertain significance (Apr 27, 2023)	criteria provided, single submitter
Select item 43354.	NM_000110.4(DPYD):c.2921A>T (p.Asp974Val) GRCh37: Chr1:97544689 GRCh38: Chr1:97079133	DPYD	D974V	Fluorouracil response	Pathogenic (Jan 1, 1997)	no assertion criteria provided
Select item 71555055.	NM_000110.4(DPYD):c.2915A>G (p.Gln972Arg) GRCh37: Chr1:97544695 GRCh38: Chr1:97079139	DPYD	Q972R	not provided	Likely benign (May 8, 2018)	criteria provided, single submitter
Select item 55296056.	NM_000110.4(DPYD):c.2908-1G>A GRCh37: Chr1:97544703 GRCh38: Chr1:97079147	DPYD		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 123296357.	NM_000110.4(DPYD):c.2908-58G>C GRCh37: Chr1:97544760 GRCh38: Chr1:97079204	DPYD		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 122283358.	NM_000110.4(DPYD):c.2908-69A>G GRCh37: Chr1:97544771 GRCh38: Chr1:97079215	DPYD		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 120057659.	NM_000110.4(DPYD):c.2908-208A>G GRCh37: Chr1:97544910 GRCh38: Chr1:97079354	DPYD		not provided	Likely benign (May 9, 2020)	criteria provided, single submitter
Select item 125509060.	NM_000110.4(DPYD):c.2907+55C>T GRCh37: Chr1:97547831 GRCh38: Chr1:97082275	DPYD		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 242912361.	NM_000110.4(DPYD):c.2907+9C>G GRCh37: Chr1:97547877 GRCh38: Chr1:97082321	DPYD		not specified	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 55165962.	NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) GRCh37: Chr1:97547921 GRCh38: Chr1:97082365	DPYD	K958E	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 236819063.	NM_000110.4(DPYD):c.2864A>G (p.Asn955Ser) GRCh37: Chr1:97547929 GRCh38: Chr1:97082373	DPYD	N955S	Inborn genetic diseases	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 262283964.	NM_000110.4(DPYD):c.2848G>A (p.Glu950Lys) GRCh37: Chr1:97547945 GRCh38: Chr1:97082389	DPYD	E950K	Inborn genetic diseases	Uncertain significance (Sep 12, 2023)	criteria provided, single submitter
Select item 8897465.	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) GRCh37: Chr1:97547947 GRCh38: Chr1:97082391	DPYD	D949V	fluorouracil response - Other, fluorouracil response - Toxicity, tegafur response - Toxicity, capecitabine response - Toxicity	drug response (May 24, 2021)	reviewed by expert panel
Select item 258139766.	NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr) GRCh37: Chr1:97547950 GRCh38: Chr1:97082394	DPYD	I948T	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Aug 28, 2023)	criteria provided, single submitter
Select item 179671667.	NM_000110.4(DPYD):c.2840T>C (p.Met947Thr) GRCh37: Chr1:97547953 GRCh38: Chr1:97082397	DPYD	M947T	Inborn genetic diseases	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 55831268.	NM_000110.4(DPYD):c.2822T>C (p.Val941Ala) GRCh37: Chr1:97547971 GRCh38: Chr1:97082415	DPYD	V941A	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (May 15, 2018)	criteria provided, single submitter
Select item 87692669.	NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp) GRCh37: Chr1:97547986 GRCh38: Chr1:97082430	DPYD	G936D	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 42979470.	NM_000110.4(DPYD):c.2767-1G>A GRCh37: Chr1:97548027 GRCh38: Chr1:97082471	DPYD		not provided	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 126930571.	NM_000110.4(DPYD):c.2767-333G>A GRCh37: Chr1:97548359 GRCh38: Chr1:97082803	DPYD		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 10007172.	NM_000110.4(DPYD):c.2766+19A>G GRCh37: Chr1:97564026 GRCh38: Chr1:97098470	DPYD, DPYD-AS1		Dihydropyrimidine dehydrogenase deficiency	Likely benign (Aug 16, 2017)	criteria provided, single submitter
Select item 29828073.	NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) GRCh37: Chr1:97564053 GRCh38: Chr1:97098497	DPYD, DPYD-AS1	T920P	Dihydropyrimidine dehydrogenase deficiency, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37095674.	NM_000110.4(DPYD):c.2754del (p.Pro919fs) GRCh37: Chr1:97564057 GRCh38: Chr1:97098501	DPYD, DPYD-AS1	P919fs	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (May 23, 2016)	criteria provided, single submitter
Select item 37138475.	NM_000110.4(DPYD):c.2748del (p.Arg916fs) GRCh37: Chr1:97564063 GRCh38: Chr1:97098507	DPYD, DPYD-AS1	R916fs	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Sep 13, 2016)	criteria provided, single submitter
Select item 172233176.	NM_000110.4(DPYD):c.2746del (p.Arg916fs) GRCh37: Chr1:97564065 GRCh38: Chr1:97098509	DPYD, DPYD-AS1	R916fs	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 55062477.	NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter) GRCh37: Chr1:97564089 GRCh38: Chr1:97098533	DPYD, DPYD-AS1	K908*	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Feb 7, 2017)	criteria provided, single submitter
Select item 223653478.	NM_000110.4(DPYD):c.2705T>C (p.Val902Ala) GRCh37: Chr1:97564106 GRCh38: Chr1:97098550	DPYD, DPYD-AS1	V902A	Inborn genetic diseases	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 37092879.	NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter) GRCh37: Chr1:97564131 GRCh38: Chr1:97098575	DPYD, DPYD-AS1	K894*	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (May 16, 2016)	criteria provided, single submitter
Select item 43780.	NM_000110.4(DPYD):c.2657G>A (p.Arg886His) GRCh37: Chr1:97564154 GRCh38: Chr1:97098598	DPYD, DPYD-AS1	R886H	not specified, Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 245334281.	NM_000110.4(DPYD):c.2654A>G (p.Gln885Arg) GRCh37: Chr1:97564157 GRCh38: Chr1:97098601	DPYD, DPYD-AS1	Q885R	Inborn genetic diseases	Uncertain significance (Nov 19, 2022)	criteria provided, single submitter
Select item 180530182.	NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter) GRCh37: Chr1:97564161 GRCh38: Chr1:97098605	DPYD, DPYD-AS1	E884*	Dihydropyrimidine dehydrogenase deficiency	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 87413483.	NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg) GRCh37: Chr1:97564177 GRCh38: Chr1:97098621	DPYD, DPYD-AS1	S878R	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29828184.	NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly) GRCh37: Chr1:97564179 GRCh38: Chr1:97098623	DPYD, DPYD-AS1	S878G	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 76454085.	NM_000110.4(DPYD):c.2623-8C>T GRCh37: Chr1:97564196 GRCh38: Chr1:97098640	DPYD, DPYD-AS1		not provided	Likely benign (Jul 24, 2018)	criteria provided, single submitter
Select item 126718586.	NM_000110.4(DPYD):c.2622+230G>A GRCh37: Chr1:97658395 GRCh38: Chr1:97192839	DPYD, DPYD-AS1		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 37121587.	NM_000110.4(DPYD):c.2622+1G>A GRCh37: Chr1:97658624 GRCh38: Chr1:97193068	DPYD, DPYD-AS1		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58580288.	NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys) GRCh37: Chr1:97658648 GRCh38: Chr1:97193092	DPYD, DPYD-AS1	R867C	not provided	Uncertain significance (Sep 18, 2017)	criteria provided, single submitter
Select item 10007289.	NM_000110.4(DPYD):c.2598A>G (p.Pro866=) GRCh37: Chr1:97658649 GRCh38: Chr1:97193093	DPYD, DPYD-AS1		not provided	not provided	no assertion provided
Select item 256762690.	NM_000110.4(DPYD):c.2593G>T (p.Val865Phe) GRCh37: Chr1:97658654 GRCh38: Chr1:97193098	DPYD, DPYD-AS1	V865F	Inborn genetic diseases	Uncertain significance (Mar 25, 2023)	criteria provided, single submitter
Select item 37151091.	NM_000110.4(DPYD):c.2589dup (p.Pro864fs) GRCh37: Chr1:97658657-97658658 GRCh38: Chr1:97193101-97193102	DPYD, DPYD-AS1	P864fs	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Oct 7, 2016)	criteria provided, single submitter
Select item 55170792.	NM_000110.4(DPYD):c.2579del (p.Gln860fs) GRCh37: Chr1:97658668 GRCh38: Chr1:97193112	DPYD, DPYD-AS1	Q860fs	Dihydropyrimidine dehydrogenase deficiency, not provided	Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 234677093.	NM_000110.4(DPYD):c.2567C>T (p.Thr856Ile) GRCh37: Chr1:97658680 GRCh38: Chr1:97193124	DPYD-AS1, DPYD	T856I	Inborn genetic diseases	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 59306294.	NM_000110.4(DPYD):c.2564C>G (p.Ala855Gly) GRCh37: Chr1:97658683 GRCh38: Chr1:97193127	DPYD, DPYD-AS1	A855G	not provided	Uncertain significance (Jul 10, 2017)	criteria provided, single submitter
Select item 37143795.	NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter) GRCh37: Chr1:97658693 GRCh38: Chr1:97193137	DPYD, DPYD-AS1	Q852*	Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Sep 26, 2016)	criteria provided, single submitter
Select item 10007396.	NM_000110.4(DPYD):c.2532A>G (p.Glu844=) GRCh37: Chr1:97658715 GRCh38: Chr1:97193159	DPYD, DPYD-AS1		not provided	not provided	no assertion provided
Select item 45140197.	NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr) GRCh37: Chr1:97658719 GRCh38: Chr1:97193163	DPYD, DPYD-AS1	I843T	Dihydropyrimidine dehydrogenase deficiency, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29828298.	NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile) GRCh37: Chr1:97658722 GRCh38: Chr1:97193166	DPYD, DPYD-AS1	S842I	Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 120618099.	NM_000110.4(DPYD):c.2494A>G (p.Thr832Ala) GRCh37: Chr1:97658753 GRCh38: Chr1:97193197	DPYD, DPYD-AS1	T832A	not provided	Uncertain significance	no assertion criteria provided
Select item 1343425100.	NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn) GRCh37: Chr1:97658762 GRCh38: Chr1:97193206	DPYD, DPYD-AS1	D829N	Dihydropyrimidine dehydrogenase deficiency, not specified	Conflicting interpretations of pathogenicity (Feb 22, 2022)	criteria provided, conflicting interpretations

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