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Items: 1 to 100 of 1219

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
3.
GRCh37:
Chr1:13946474-18792666
GRCh38:
Chr1:13619979-18466172
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr1:16008307-19988832
GRCh38:
Chr1:15681812-19662339
See casesPathogenic
(Jan 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr1:17345113
GRCh38:
Chr1:17018618
SDHBnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:17345192-17345217
GRCh38:
Chr1:17018697-17018722
SDHBnot specifiedUncertain significance
(Apr 7, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:17345217
GRCh38:
Chr1:17018722
SDHBnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr1:17345217-17380665
GRCh38:
Chr1:17018722-17054170
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Nov 28, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:17345217-17345453
GRCh38:
Chr1:17018722-17018958
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Jun 21, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:17345217-17380665
GRCh38:
Chr1:17018722-17054170
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Pathogenic
(Sep 15, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:17345243
GRCh38:
Chr1:17018748
SDHBCarney-Stratakis syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:17345274
GRCh38:
Chr1:17018779
SDHBCarney-Stratakis syndrome, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:17345346
GRCh38:
Chr1:17018851
SDHBnot specifiedLikely benign
(Mar 21, 2022)
no assertion criteria provided
15.
GRCh37:
Chr1:17345366-17345463
GRCh38:
Chr1:17018871-17018968
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Pathogenic
(Oct 10, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:17345366-17380524
GRCh38:
Chr1:17018871-17054029
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Pathogenic
(Jul 10, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr1:17345366-17380524
GRCh38:
Chr1:17018871-17054029
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(Jul 25, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr1:17345370-17359646
GRCh38:
Chr1:17018875-17033151
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Pathogenic
(Jan 26, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr1:17345370-17355237
GRCh38:
Chr1:17018875-17028742
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Oct 5, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:17345370-17371389
GRCh38:
Chr1:17018875-17044894
SDHBParagangliomas 4Pathogenic
(Apr 20, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr1:17345376-17397986
GRCh38:
Chr1:17018881-17071491
PADI2, SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Pathogenic
(May 31, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:17345378
GRCh38:
Chr1:17018883
SDHBHereditary cancer-predisposing syndromeUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr1:17345382
GRCh38:
Chr1:17018887
SDHBHereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor,
Paragangliomas 4
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:17345383-17345384
GRCh38:
Chr1:17018888-17018889
SDHBS279LGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Oct 14, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr1:17345384
GRCh38:
Chr1:17018889
SDHBS279AGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Oct 23, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr1:17345384
GRCh38:
Chr1:17018889
SDHBS279THereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor
Uncertain significance
(Dec 28, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:17345385
GRCh38:
Chr1:17018890
SDHBHereditary cancer-predisposing syndrome, not providedLikely benign
(May 9, 2019)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:17345387
GRCh38:
Chr1:17018892
SDHBA260P, A278PGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(May 7, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:17345388
GRCh38:
Chr1:17018893
SDHBA278fsPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Jul 29, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr1:17345391
GRCh38:
Chr1:17018896
SDHBHereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor,
Paragangliomas 4
Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:17345394-17345396
GRCh38:
Chr1:17018899-17018901
SDHBE275delPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Dec 9, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr1:17345399
GRCh38:
Chr1:17018904
SDHBK274EHereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma,
Paragangliomas 4, not provided
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:17345400
GRCh38:
Chr1:17018905
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Likely benign
(Sep 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:17345400
GRCh38:
Chr1:17018905
SDHBY273*Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Dec 25, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr1:17345401
GRCh38:
Chr1:17018906
SDHBY273FHereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas 4,
Gastrointestinal stromal tumor
Uncertain significance
(Dec 15, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:17345403
GRCh38:
Chr1:17018908
SDHBHereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma,
Paragangliomas 4
Likely benign
(Jan 5, 2020)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:17345404
GRCh38:
Chr1:17018909
SDHBT272IParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:17345405
GRCh38:
Chr1:17018910
SDHBT272AHereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor
Uncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:17345406
GRCh38:
Chr1:17018911
SDHBHereditary cancer-predisposing syndromeLikely benign
(Jan 30, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:17345407
GRCh38:
Chr1:17018912
SDHBA271Vnot provided, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:17345408
GRCh38:
Chr1:17018913
SDHBA253P, A271PParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Dec 13, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr1:17345409
GRCh38:
Chr1:17018914
SDHBM270IHereditary cancer-predisposing syndromeUncertain significance
(Oct 31, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:17345410
GRCh38:
Chr1:17018915
SDHBM270TPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:17345411
GRCh38:
Chr1:17018916
SDHBM270VGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Feb 24, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr1:17345413
GRCh38:
Chr1:17018918
SDHBM269fsHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 12, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:17345414
GRCh38:
Chr1:17018919
SDHBM269VParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr1:17345417
GRCh38:
Chr1:17018922
SDHBK268*Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr1:17345418
GRCh38:
Chr1:17018923
SDHBHereditary cancer-predisposing syndromeLikely pathogenic
(Dec 11, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr1:17345418
GRCh38:
Chr1:17018923
SDHBK267NGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Oct 4, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:17345420
GRCh38:
Chr1:17018925
SDHBK267EParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr1:17345421
GRCh38:
Chr1:17018926
SDHBI266MPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(May 7, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:17345421
GRCh38:
Chr1:17018926
SDHBHereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas 4,
Gastrointestinal stromal tumor
Likely benign
(Feb 4, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:17345426
GRCh38:
Chr1:17018931
SDHBE265KParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:17345427
GRCh38:
Chr1:17018932
SDHBHereditary cancer-predisposing syndromeLikely benign
(Jun 2, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:17345428
GRCh38:
Chr1:17018933
SDHBA264EGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 31, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:17345429
GRCh38:
Chr1:17018934
SDHBA264TGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:17345430
GRCh38:
Chr1:17018935
SDHBI263fsHereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma
Conflicting interpretations of pathogenicity
(Apr 25, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr1:17345430
GRCh38:
Chr1:17018935
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Likely benign
(Jan 29, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:17345431-17345432
GRCh38:
Chr1:17018936-17018937
SDHBI263fsHereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor,
Pheochromocytoma, not provided
Likely pathogenic
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:17345432
GRCh38:
Chr1:17018937
SDHBI245V, I263VPheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:17345433
GRCh38:
Chr1:17018938
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Likely benign
(Feb 20, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:17345433-17345434
GRCh38:
Chr1:17018938-17018939
SDHBI263fsParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Likely pathogenic
(May 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:17345434
GRCh38:
Chr1:17018939
SDHBA262VGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Sep 16, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr1:17345436
GRCh38:
Chr1:17018941
SDHBHereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor,
Pheochromocytoma
Likely benign
(Apr 29, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:17345437
GRCh38:
Chr1:17018942
SDHBK261TGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(May 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:17345438
GRCh38:
Chr1:17018943
SDHBK243Q, K261QHereditary cancer-predisposing syndromeUncertain significance
(Jul 16, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr1:17345438-17345439
GRCh38:
Chr1:17018943-17018944
SDHBK261fsGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Likely pathogenic
(Sep 29, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:17345440
GRCh38:
Chr1:17018945
SDHBG260E, G242EParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Uncertain significance
(Jul 14, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:17345441
GRCh38:
Chr1:17018946
SDHBG260RParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr1:17345442
GRCh38:
Chr1:17018947
SDHBPheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
Likely benign
(Sep 13, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr1:17345444
GRCh38:
Chr1:17018949
SDHBP259TGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Nov 17, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr1:17345446
GRCh38:
Chr1:17018951
SDHBN258TPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:17345447
GRCh38:
Chr1:17018952
SDHBN258HParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:17345448
GRCh38:
Chr1:17018953
SDHBHereditary cancer-predisposing syndromeLikely benign
(Mar 7, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr1:17345449
GRCh38:
Chr1:17018954
SDHBL257QPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:17345449
GRCh38:
Chr1:17018954
SDHBL257RPheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor
Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr1:17345450
GRCh38:
Chr1:17018955
SDHBL257VCowden syndrome, Gastrointestinal stromal tumor, Pheochromocytoma,
Paragangliomas 4
Uncertain significance
(May 10, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:17345451
GRCh38:
Chr1:17018956
SDHBHereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor,
Pheochromocytoma
Likely benign
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:17345458
GRCh38:
Chr1:17018963
SDHBPheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
Likely benign
(Feb 26, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr1:17345459
GRCh38:
Chr1:17018964
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Likely benign
(Feb 12, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:17345462
GRCh38:
Chr1:17018967
SDHBPheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
Likely benign
(Aug 27, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:17345464
GRCh38:
Chr1:17018969
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Likely benign
(Apr 15, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:17345472-17345474
GRCh38:
Chr1:17018977-17018979
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Likely benign
(Jun 15, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:17345472
GRCh38:
Chr1:17018977
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
not specified
Likely benign
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:17345473
GRCh38:
Chr1:17018978
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
not specified
Likely benign
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:17345493
GRCh38:
Chr1:17018998
SDHBnot providedLikely benign
(Jun 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr1:17345624-17345625
GRCh38:
Chr1:17019129-17019130
SDHBnot providedBenign
(Jun 15, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr1:17348847
GRCh38:
Chr1:17022352
SDHBnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr1:17349067-17349125
GRCh38:
Chr1:17022572-17022630
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Pathogenic
(Mar 19, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:17349070-17349107
GRCh38:
Chr1:17022575-17022612
SDHBGastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
Pathogenic
(Aug 13, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr1:17349074
GRCh38:
Chr1:17022579
SDHBHereditary cancer-predisposing syndrome, not specifiedLikely benign
(Nov 30, 2021)
no assertion criteria provided
92.
GRCh37:
Chr1:17349087
GRCh38:
Chr1:17022592
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Likely benign
(Oct 18, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:17349087
GRCh38:
Chr1:17022592
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Likely benign
(Oct 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:17349089
GRCh38:
Chr1:17022594
SDHBPheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
Likely benign
(Jun 29, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:17349090
GRCh38:
Chr1:17022595
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
not specified, Paragangliomas 4
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:17349094
GRCh38:
Chr1:17022599
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Likely benign
(Dec 13, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr1:17349095
GRCh38:
Chr1:17022600
SDHBGastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
Likely benign
(Sep 13, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr1:17349095
GRCh38:
Chr1:17022600
SDHBParagangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
Likely benign
(Nov 8, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr1:17349097
GRCh38:
Chr1:17022602
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr1:17349098
GRCh38:
Chr1:17022603
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Oct 2, 2022)
criteria provided, conflicting interpretations
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