| - GRCh37:
- Chr1:2922757-18015429
- GRCh38:
- Chr1:3006193-17688934
| AADACL3, AADACL4, ACOT7, ACTRT2, AGMAT, AGTRAP, AJAP1, ANGPTL7, ARHGEF10L, ARHGEF16, ARHGEF19, ATP13A2, C1orf127, C1orf167, C1orf167-AS1, C1orf174, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CCDC27, CELA2A, CELA2B, CENPS, CENPS-CORT, CEP104, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DFFB, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, EPHA2, EPHA2-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, ICMT, ICMT-DT, KAZN, KAZN-AS1, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01647, LINC01672, LINC01714, LINC01772, LINC01777, LINC01783, LINC01784, LINC02606, LINC02766, LINC02782, LINC02783, LNCTAM34A, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC106783575, LOC108281140, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110120751, LOC110121160, LOC110121213, LOC110121223, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112267871, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC121677384, LOC121677385, LOC121677386, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC124903827, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC128505377, LRRC38, LRRC47, LZIC, MAD2L2, MASP2, MEGF6, MFAP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4251, MIR4252, MIR4417, MIR4632, MIR4689, MIR551A, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM16, PRDM16-DT, PRDM2, RBP7, RCC2, RCC2-AS1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU5E-1, RPL22, RSC1A1, SCARNA21B, SDHB, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SMIM1, SNORA59A, SNORD128, SPATA21, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, WRAP73, ZBTB17, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:5423886-18686796
- GRCh38:
- Chr1:5363826-18360302
| AADACL3, AADACL4, ACOT7, ACTL8, AGMAT, AGTRAP, ANGPTL7, ARHGEF10L, ARHGEF19, ATP13A2, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, EPHA2, EPHA2-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, ICMT, ICMT-DT, IGSF21, IGSF21-AS1, KAZN, KAZN-AS1, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01654, LINC01672, LINC01714, LINC01772, LINC01783, LINC01784, LINC02606, LINC02766, LINC02783, LNCTAM34A, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC106783575, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112267871, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC120893115, LOC121677385, LOC121677386, LOC121677387, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4252, MIR4417, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RCC2, RCC2-AS1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU5E-1, RPL22, RSC1A1, SCARNA21B, SDHB, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPATA21, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:13946474-18792666
- GRCh38:
- Chr1:13619979-18466172
| ACTL8, AGMAT, ARHGEF10L, ARHGEF19, ATP13A2, CASP9, CELA2A, CELA2B, CLCNKA, CLCNKB, CPLANE2, CROCC, CTRC, DDI2, DNAJC16, EFHD2, EFHD2-AS1, EPHA2, EPHA2-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO42, FHAD1, FHAD1-AS1, HSPB7, IGSF21, IGSF21-AS1, KAZN, KAZN-AS1, LINC01654, LINC01772, LINC01783, LINC02783, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC111562380, LOC112267871, LOC112577491, LOC112577504, LOC112577505, LOC120893114, LOC120893115, LOC121677387, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, MFAP2, MIR3675, MIR3972, NBPF1, NECAP2, PADI1, PADI2, PADI3, PADI4, PADI6, PLEKHM2, PRDM2, RCC2, RCC2-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RSC1A1, SCARNA21B, SDHB, SLC25A34, SLC25A34-AS1, SPATA21, SPEN, SPEN-AS1, SRARP, SZRD1, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UQCRHL, ZBTB17 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:15711763-21306842
- GRCh38:
- Chr1:15385267-20980349
| ACTL8, AGMAT, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ARHGEF10L, ARHGEF19, ATP13A2, CAMK2N1, CAPZB, CASP9, CDA, CELA2A, CELA2B, CLCNKA, CLCNKB, CPLANE2, CROCC, CTRC, DDI2, DDOST, DNAJC16, EFHD2, EFHD2-AS1, EIF4G3, EMC1, EMC1-AS1, EPHA2, EPHA2-AS1, FAM131C, FAM231AP, FAM231BP, FAM43B, FBLIM1, FBXO42, FHAD1, HP1BP3, HSPB7, HTR6, IFFO2, IGSF21, IGSF21-AS1, KIF17, KLHDC7A, LINC01141, LINC01654, LINC01757, LINC01772, LINC01783, LINC02783, LOC100506730, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC108175348, LOC108254694, LOC111562380, LOC111828503, LOC112267871, LOC112577504, LOC112577505, LOC117779438, LOC120893114, LOC120893115, LOC120893116, LOC120893117, LOC120893118, LOC120893119, LOC121677387, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC122056776, LOC122056777, LOC122056778, LOC122056779, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, LOC126805645, LOC126805646, LOC126805647, LOC126805648, LOC126805649, LOC126805650, LOC126805651, MFAP2, MICOS10, MICOS10-DT, MICOS10-NBL1, MIR1290, MIR3675, MIR3972, MIR4695, MIR6084, MRTO4, MUL1, NBL1, NBPF1, NECAP2, OTUD3, PADI1, PADI2, PADI3, PADI4, PADI6, PAX7, PINK1, PINK1-AS, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, RCC2, RCC2-AS1, RNF186, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RSC1A1, SCARNA21B, SDHB, SH2D5, SLC25A34, SLC25A34-AS1, SLC66A1, SPATA21, SPEN, SPEN-AS1, SRARP, SZRD1, TAS1R2, TMCO4, TMEM82, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBR4, UBXN10, UBXN10-AS1, UQCRHL, VWA5B1, ZBTB17 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:16008307-19988832
- GRCh38:
- Chr1:15681812-19662339
| ACTL8, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ARHGEF10L, ARHGEF19, ATP13A2, CAPZB, CLCNKA, CLCNKB, CPLANE2, CROCC, EMC1, EMC1-AS1, EPHA2, EPHA2-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO42, HSPB7, IFFO2, IGSF21, IGSF21-AS1, KLHDC7A, LINC01654, LINC01772, LINC01783, LINC02783, LOC100506730, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC108175348, LOC108254694, LOC111562380, LOC111828503, LOC112267871, LOC112577504, LOC112577505, LOC120893114, LOC120893115, LOC120893116, LOC120893117, LOC121677387, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC122056776, LOC122056777, LOC122056778, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, MFAP2, MICOS10, MICOS10-DT, MICOS10-NBL1, MIR1290, MIR3675, MIR3972, MIR4695, MRTO4, NBL1, NBPF1, NECAP2, PADI1, PADI2, PADI3, PADI4, PADI6, PAX7, PLEKHM2, RCC2, RCC2-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, SDHB, SLC25A34, SLC25A34-AS1, SLC66A1, SPATA21, SPEN, SPEN-AS1, SRARP, SZRD1, TAS1R2, TMEM82, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBR4, UQCRHL, ZBTB17 | | See cases | Pathogenic (Jan 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:17345113
- GRCh38:
- Chr1:17018618
| SDHB | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345192-17345217
- GRCh38:
- Chr1:17018697-17018722
| SDHB | | not specified | Uncertain significance (Apr 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345217
- GRCh38:
- Chr1:17018722
| SDHB | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345217-17380665
- GRCh38:
- Chr1:17018722-17054170
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Nov 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345217-17345453
- GRCh38:
- Chr1:17018722-17018958
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Jun 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345217-17380665
- GRCh38:
- Chr1:17018722-17054170
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic (Sep 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345243
- GRCh38:
- Chr1:17018748
| SDHB | | Carney-Stratakis syndrome, Hereditary pheochromocytoma-paraganglioma | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345274
- GRCh38:
- Chr1:17018779
| SDHB | | Carney-Stratakis syndrome, Hereditary pheochromocytoma-paraganglioma | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345346
- GRCh38:
- Chr1:17018851
| SDHB | | not specified | Likely benign (Mar 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:17345366-17345463
- GRCh38:
- Chr1:17018871-17018968
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic (Oct 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345366-17380524
- GRCh38:
- Chr1:17018871-17054029
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345366-17380524
- GRCh38:
- Chr1:17018871-17054029
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Uncertain significance (Jul 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345370-17359646
- GRCh38:
- Chr1:17018875-17033151
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Pathogenic (Jan 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345370-17355237
- GRCh38:
- Chr1:17018875-17028742
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Oct 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345370-17371389
- GRCh38:
- Chr1:17018875-17044894
| SDHB | | Paragangliomas 4 | Pathogenic (Apr 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345376-17397986
- GRCh38:
- Chr1:17018881-17071491
| PADI2, SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Pathogenic (May 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345378
- GRCh38:
- Chr1:17018883
| SDHB | | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345382
- GRCh38:
- Chr1:17018887
| SDHB | | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4 | Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345383-17345384
- GRCh38:
- Chr1:17018888-17018889
| SDHB | S279L | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345384
- GRCh38:
- Chr1:17018889
| SDHB | S279A | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345384
- GRCh38:
- Chr1:17018889
| SDHB | S279T | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor | Uncertain significance (Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345385
- GRCh38:
- Chr1:17018890
| SDHB | | Hereditary cancer-predisposing syndrome, not provided | Likely benign (May 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345387
- GRCh38:
- Chr1:17018892
| SDHB | A260P, A278P | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345388
- GRCh38:
- Chr1:17018893
| SDHB | A278fs | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345391
- GRCh38:
- Chr1:17018896
| SDHB | | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4 | Likely benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345394-17345396
- GRCh38:
- Chr1:17018899-17018901
| SDHB | E275del | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345399
- GRCh38:
- Chr1:17018904
| SDHB | K274E | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4, not provided | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345400
- GRCh38:
- Chr1:17018905
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345400
- GRCh38:
- Chr1:17018905
| SDHB | Y273* | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Dec 25, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345401
- GRCh38:
- Chr1:17018906
| SDHB | Y273F | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor | Uncertain significance (Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345403
- GRCh38:
- Chr1:17018908
| SDHB | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4 | Likely benign (Jan 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345404
- GRCh38:
- Chr1:17018909
| SDHB | T272I | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Uncertain significance (Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345405
- GRCh38:
- Chr1:17018910
| SDHB | T272A | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor | Uncertain significance (Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345406
- GRCh38:
- Chr1:17018911
| SDHB | | Hereditary cancer-predisposing syndrome | Likely benign (Jan 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345407
- GRCh38:
- Chr1:17018912
| SDHB | A271V | not provided, Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345408
- GRCh38:
- Chr1:17018913
| SDHB | A253P, A271P | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345409
- GRCh38:
- Chr1:17018914
| SDHB | M270I | Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345410
- GRCh38:
- Chr1:17018915
| SDHB | M270T | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345411
- GRCh38:
- Chr1:17018916
| SDHB | M270V | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Feb 24, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345413
- GRCh38:
- Chr1:17018918
| SDHB | M269fs | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345414
- GRCh38:
- Chr1:17018919
| SDHB | M269V | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345417
- GRCh38:
- Chr1:17018922
| SDHB | K268* | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345418
- GRCh38:
- Chr1:17018923
| SDHB | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Dec 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345418
- GRCh38:
- Chr1:17018923
| SDHB | K267N | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345420
- GRCh38:
- Chr1:17018925
| SDHB | K267E | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345421
- GRCh38:
- Chr1:17018926
| SDHB | I266M | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345421
- GRCh38:
- Chr1:17018926
| SDHB | | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor | Likely benign (Feb 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345426
- GRCh38:
- Chr1:17018931
| SDHB | E265K | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345427
- GRCh38:
- Chr1:17018932
| SDHB | | Hereditary cancer-predisposing syndrome | Likely benign (Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345428
- GRCh38:
- Chr1:17018933
| SDHB | A264E | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345429
- GRCh38:
- Chr1:17018934
| SDHB | A264T | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, Hereditary cancer-predisposing syndrome | Uncertain significance (Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345430
- GRCh38:
- Chr1:17018935
| SDHB | I263fs | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma | Conflicting interpretations of pathogenicity (Apr 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:17345430
- GRCh38:
- Chr1:17018935
| SDHB | | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Likely benign (Jan 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345431-17345432
- GRCh38:
- Chr1:17018936-17018937
| SDHB | I263fs | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma, not provided | Likely pathogenic (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345432
- GRCh38:
- Chr1:17018937
| SDHB | I245V, I263V | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4, Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345433
- GRCh38:
- Chr1:17018938
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Likely benign (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345433-17345434
- GRCh38:
- Chr1:17018938-17018939
| SDHB | I263fs | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely pathogenic (May 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345434
- GRCh38:
- Chr1:17018939
| SDHB | A262V | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345436
- GRCh38:
- Chr1:17018941
| SDHB | | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma | Likely benign (Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345437
- GRCh38:
- Chr1:17018942
| SDHB | K261T | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Uncertain significance (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345438
- GRCh38:
- Chr1:17018943
| SDHB | K243Q, K261Q | Hereditary cancer-predisposing syndrome | Uncertain significance (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345438-17345439
- GRCh38:
- Chr1:17018943-17018944
| SDHB | K261fs | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Likely pathogenic (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345440
- GRCh38:
- Chr1:17018945
| SDHB | G260E, G242E | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345441
- GRCh38:
- Chr1:17018946
| SDHB | G260R | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345442
- GRCh38:
- Chr1:17018947
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Likely benign (Sep 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345444
- GRCh38:
- Chr1:17018949
| SDHB | P259T | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Uncertain significance (Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345446
- GRCh38:
- Chr1:17018951
| SDHB | N258T | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345447
- GRCh38:
- Chr1:17018952
| SDHB | N258H | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345448
- GRCh38:
- Chr1:17018953
| SDHB | | Hereditary cancer-predisposing syndrome | Likely benign (Mar 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345449
- GRCh38:
- Chr1:17018954
| SDHB | L257Q | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345449
- GRCh38:
- Chr1:17018954
| SDHB | L257R | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
| Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345450
- GRCh38:
- Chr1:17018955
| SDHB | L257V | Cowden syndrome, Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4 | Uncertain significance (May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345451
- GRCh38:
- Chr1:17018956
| SDHB | | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma | Likely benign (Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345458
- GRCh38:
- Chr1:17018963
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Likely benign (Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345459
- GRCh38:
- Chr1:17018964
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely benign (Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345462
- GRCh38:
- Chr1:17018967
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Likely benign (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345464
- GRCh38:
- Chr1:17018969
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Likely benign (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345472-17345474
- GRCh38:
- Chr1:17018977-17018979
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Likely benign (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345472
- GRCh38:
- Chr1:17018977
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, not specified | Likely benign (Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345473
- GRCh38:
- Chr1:17018978
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, not specified | Likely benign (Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345493
- GRCh38:
- Chr1:17018998
| SDHB | | not provided | Likely benign (Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345624-17345625
- GRCh38:
- Chr1:17019129-17019130
| SDHB | | not provided | Benign (Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17348847
- GRCh38:
- Chr1:17022352
| SDHB | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349067-17349125
- GRCh38:
- Chr1:17022572-17022630
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349070-17349107
- GRCh38:
- Chr1:17022575-17022612
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Pathogenic (Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349074
- GRCh38:
- Chr1:17022579
| SDHB | | Hereditary cancer-predisposing syndrome, not specified | Likely benign (Nov 30, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:17349087
- GRCh38:
- Chr1:17022592
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349087
- GRCh38:
- Chr1:17022592
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349089
- GRCh38:
- Chr1:17022594
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Likely benign (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349090
- GRCh38:
- Chr1:17022595
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, not specified, Paragangliomas 4 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349094
- GRCh38:
- Chr1:17022599
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Likely benign (Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349095
- GRCh38:
- Chr1:17022600
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Likely benign (Sep 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349095
- GRCh38:
- Chr1:17022600
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely benign (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349097
- GRCh38:
- Chr1:17022602
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349098
- GRCh38:
- Chr1:17022603
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Oct 2, 2022) | criteria provided, conflicting interpretations |