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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:2922757-18015429
GRCh38:
Chr1:3006193-17688934
PLEKHG5, ACTRT2, MASP2, C1orf127, AGMAT, HNRNPCL4, PRAMEF11, PRAMEF1, RPL22, TNFRSF9, UTS2, TNFRSF8, CASZ1, C1orf167, TARDBP, TRG-CCC1-2, LINC02783, KIAA2013, MIR3675, HNRNPCL2, CAMTA1-AS2, MIR4417, LINC01772, KAZN, RCC2, PRAMEF19, LOC111562380, PRAMEF4, MTOR-AS1, ESPN, TP73, LOC120893114, MIR1273D, EXOSC10, LOC120851202, RNU1-4, MIR6728, LNCTAM34A, RNU5E-1, LRRC47, TRE-TTC3-1, LOC110120672, ICMT-DT, RNU1-2, LOC110121223, FAM231AP, TRN-GTT13-1, ZBTB48, CLSTN1, ZBTB17, RBP7, LOC110120648, LOC120883623, SPSB1, MIR3972, LOC112577472, LOC112577504, FBXO6, ENO1-AS1, LOC106783575, CASP9, CLCNKA, CROCC, MIR5697, TRG-CCC4-1, LOC106501713, LOC120883622, PADI2, PARK7, LINC01714, CPLANE2, LINC01647, MAD2L2, DRAXIN, PRAMEF9, TNFRSF25, VAMP3, LOC112577487, CENPS-CORT, SMIM1, KIF1B, LOC112577581, LOC120851201, LOC102723383, CTNNBIP1, ARHGEF19, FAM131C, NPPA, MFN2, PGD, SZRD1, MFAP2, PRAMEF25, MTHFR, CELA2A, TMEM51-AS2, LOC120883621, PHF13, LINC01346, AADACL3, CLCNKB, LOC120893113, LOC114827827, LRRC38, CAMTA1-IT1, PEX14, KCNAB2, PER3, LOC110120666, PADI1, CENPS, RNF207-AS1, HES2, MIR4689, TMEM51, CHD5, PADI6, AJAP1, SRARP, PRAMEF15, HES3, EPHA2, EFHD2, FBXO42, LOC115801416, MIR4632, TP73-AS3, LOC108281186, PRAMEF33, LINC01345, TNFRSF1B, C1orf174, PRAMEF18, LINC01777, PRAMEF8, PIK3CD-AS2, DHRS3, TRE-TTC4-1, LOC110121213, AGTRAP, ACOT7, TMEM51-AS1, LINC01672, TP73-AS1, SPATA21, MIR4252, LOC112577488, DFFA, KAZN-AS1, FBLIM1, SLC25A34-AS1, MIR6730, ICMT, FHAD1-AS1, DNAJC11, HSPB7, CAMTA1-DT, TRG-CCC5-1, PRDM2, PRAMEF14, FBXO44, VPS13D, SLC2A5, PADI4, PIK3CD, CELA2B, PLOD1, PRAMEF6, SRM, TRQ-CTG14-1, SPEN-AS1, LINC01646, LOC110121260, RNU1-1, MEGF6, PRAMEF12, SLC25A33, PDPN, RERE-AS1, NPPA-AS1, CAMTA1, ARHGEF16, PRAMEF13, C1orf167-AS1, FBXO2, PRDM16-DT, NECAP2, CLCN6, LOC112577486, SNORD128, LOC105376805, LINC01134, LOC110120623, PADI3, CORT, EFHD2-AS1, PRAMEF20, NBPF1, MIR6729, CCDC27, NMNAT1, SNORA59A, LOC112577579, LOC110121160, SDHB, CTRC, DISP3, SLC25A34, WRAP73, PRAMEF2, LINC02782, CFAP107, NPPB, LINC02766, LOC108281189, CA6, DFFB, H6PD, UQCRHL, SLC45A1, SLC2A7, NPHP4, PRAMEF10, RNF207, LOC112577505, MIR7846, HNRNPCL3, TRN-GTT4-1, PLEKHM2, ANGPTL7, LINC01783, MIR4251, RERE, LOC112590813, RSC1A1, THAP3, SPEN, LOC111591499, LOC112590821, PRAMEF7, UBIAD1, PRDM16, LOC120883620, LINC01784, TMEM201, EXOSC10-AS1, PRAMEF27, LOC112590825, LOC112267871, ENO1, PIK3CD-AS1, LOC110120751, GPR153, LOC112577491, LOC112577578, CAMTA1-AS1, PRAMEF17, LOC108281140, ARHGEF10L, PRAMEF26, LOC106501712, SCARNA21B, TRG-CCC1-1, MIIP, MTOR, RCC2-AS1, LOC110121258, HNRNPCL1, MIR34A, TPRG1L, FAM231BP, PRAMEF5, ATP13A2, MIR34AHG, TRN-GTT5-1, DDI2, RNU1-3, GPR157, PRAMEF16, DNAJC16, UBE4B, TMEM82, LZIC, AADACL4, NOL9, EPHA2-AS1, TAS1R1, MIR551A, CEP104, FHAD1, ERRFI1, KLHL21, LOC112590822, LOC112590823, LINC02606
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059846
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-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, 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, 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 providedVCV000154704
3.
GRCh37:
Chr1:10616854-22884400
GRCh38:
Chr1:10556797-22557907
ECE1, DISP3, AKR7L, LOC114827827, PRAMEF2, TRG-CCC4-1, LOC120893114, PRDM2, HP1BP3, MUL1, SPEN-AS1, FHAD1-AS1, MAD2L2, HNRNPCL3, NBPF3, MIR4632, TRN-GTT4-1, UBIAD1, ANGPTL7, PRAMEF18, PRAMEF6, LOC108175348, PADI3, LINC01141, LOC112577487, AGTRAP, HNRNPCL2, FBXO2, TMEM51-AS1, CLCNKA, MICOS10-NBL1, EPHA2-AS1, UBXN10, LINC02596, LOC110121260, LOC106501712, NECAP2, MIR1256, PRAMEF26, PRAMEF14, HNRNPCL4, LINC01635, CASZ1, LINC01772, KAZN, DHRS3, NPPB, TRN-GTT5-1, SLC66A1, LINC01654, MRTO4, CPLANE2, AADACL3, PEX14, TMEM51, IFFO2, TRG-CCC1-2, LDLRAD2, LINC01784, PRAMEF27, RCC2, LOC120893120, TRG-CCC5-1, RNF186, CFAP107, SZRD1, PRAMEF9, DNAJC16, PLA2G2F, MICOS10-DT, KIAA2013, TRE-TTC3-1, PRAMEF8, NPPA-AS1, PRAMEF1, NBPF1, PLA2G2A, LOC120893113, EFHD2-AS1, EMC1, CROCC, MTOR, LOC112577491, LINC02766, RNU1-3, LOC120893122, LOC112577486, EMC1-AS1, ARHGEF19, FBXO42, PRAMEF11, TNFRSF8, AKR7A2, LOC111562380, LOC106501713, LOC112577488, TARDBP, AADACL4, ACTL8, MIR7846, PRAMEF15, LOC100506730, C1orf127, FAM131C, TMEM82, TRQ-CTG14-1, CASP9, ZBTB40, MICOS10, MIR1290, CELA3B, PLA2G2D, LOC111501793, RNU5E-1, MIR4418, ALDH4A1, EIF4G3, PRAMEF20, MASP2, SNORA59A, PADI1, LOC108254694, MIR6730, PLEKHM2, LOC120883623, LINC01757, KLHDC7A, PINK1, SLC25A34-AS1, WNT4, VPS13D, IGSF21-AS1, PLA2G2E, FAM231AP, IGSF21, HSPB7, PLA2G2C, LOC120893116, CLCNKB, C1orf167-AS1, TNFRSF1B, LRRC38, HNRNPCL1, PRAMEF19, LOC110121258, VWA5B1, LOC105376805, CDC42, PLA2G5, DDI2, RSC1A1, LINC00339, PRAMEF25, LOC102723383, RNU1-4, CTRC, LOC117779438, ZBTB17, LOC112267871, NPPA, RAP1GAP, MTHFR, DDOST, PRAMEF16, LOC120893121, SCARNA21B, TRN-GTT13-1, AKR7A3, LOC112577504, UBXN10-AS1, SH2D5, EFHD2, MIIP, PRAMEF12, CLCN6, FBXO6, TRG-CCC1-1, MIR3972, PADI6, MFAP2, CELA3A, SPEN, ATP13A2, LOC112577472, LOC110120672, UBR4, CDA, PRAMEF4, OTUD3, FBLIM1, EXOSC10, SLC25A34, HTR6, LOC112577505, ECE1-AS1, LOC111591499, CELA2B, CELA2A, PADI2, PRAMEF10, MIR6729, PADI4, TMEM51-AS2, LOC110120666, PRAMEF13, HSPG2, LOC110120648, LOC115801416, EPHA2, MFN2, MIR6084, TRE-TTC4-1, PLOD1, SRARP, RNU1-2, SDHB, LINC01783, EXOSC10-AS1, KIF17, FHAD1, DRAXIN, LINC01647, LOC111828503, ALPL, AGMAT, PDPN, FAM231BP, UQCRHL, MTOR-AS1, PRAMEF5, LINC02783, SRM, C1orf167, USP48, ARHGEF10L, LOC110120623, CAMK2N1, RCC2-AS1, NBL1, LOC120893118, RNU1-1, LOC120893119, MIR3675, PRAMEF33, LOC120893115, PINK1-AS, LOC120893117, PRAMEF17, MIR4695, CAPZB, PRAMEF7, TMCO4, SPATA21, PAX7, FAM43B, FBXO44, TAS1R2, KAZN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059889
4.
GRCh37:
Chr1:13178269-20996700
GRCh38:
Chr1:13110797-20670207
TMEM51-AS2, ACTL8, TRE-TTC4-1, FAM43B, CAPZB, PRDM2, RCC2-AS1, TRG-CCC1-2, FBXO42, PADI3, PRAMEF8, MIR1290, LOC108254694, LOC112577491, KIF17, UBXN10, TMEM51, LINC01757, MICOS10-DT, PLEKHM2, TMCO4, PRAMEF13, SPEN, TAS1R2, PLA2G2A, LINC02783, LOC120893118, LOC120893115, CLCNKB, KAZN-AS1, FAM131C, PRAMEF20, CASP9, OTUD3, SLC25A34, PRAMEF33, PRAMEF16, LOC105376805, EPHA2, CLCNKA, IFFO2, PLA2G2E, LOC100506730, PINK1, MFAP2, PLA2G2D, DDI2, TRN-GTT13-1, MIR3972, PRAMEF9, RCC2, KLHDC7A, DDOST, LOC111828503, LOC117779438, IGSF21-AS1, DNAJC16, LINC01783, SLC25A34-AS1, IGSF21, CELA2A, LINC01141, UQCRHL, TMEM51-AS1, ATP13A2, FHAD1-AS1, PRAMEF19, PAX7, HNRNPCL2, TRQ-CTG14-1, RNU1-4, SLC66A1, FBLIM1, CELA2B, LOC112577504, CTRC, MIR6084, SPEN-AS1, NECAP2, EMC1, LOC108175348, HNRNPCL4, MICOS10, LOC120893116, SRARP, SDHB, AKR7L, LOC112267871, TRN-GTT4-1, CDA, MIR3675, PADI4, RNU1-1, FAM231AP, ZBTB17, EMC1-AS1, PRAMEF17, HTR6, MICOS10-NBL1, PLA2G2C, CPLANE2, AKR7A2, NBL1, MRTO4, PRAMEF5, RNU1-2, LINC01772, PLA2G5, KAZN, ARHGEF10L, PADI6, LOC111562380, SZRD1, UBXN10-AS1, TRE-TTC3-1, SPATA21, CAMK2N1, MUL1, AGMAT, PADI2, LOC112577505, CROCC, PDPN, NBPF1, LRRC38, HSPB7, LOC102723383, TRG-CCC4-1, ALDH4A1, TMEM82, TRG-CCC1-1, RNF186, PINK1-AS, LINC01654, PLA2G2F, RNU1-3, TRG-CCC5-1, EPHA2-AS1, RSC1A1, LOC120893117, LOC106501713, FHAD1, AKR7A3, EFHD2-AS1, UBR4, PRAMEF14, TRN-GTT5-1, PRAMEF18, LOC106501712, MIR4695, SCARNA21B, EFHD2, PRAMEF26, ARHGEF19, LOC120893114, FAM231BP, VWA5B1, LOC120893119, PADI1, PRAMEF15
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058054
5.
GRCh37:
Chr1:13946474-18792666
GRCh38:
Chr1:13619979-18466172
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058056
6.
GRCh37:
Chr1:15499993-17346071
GRCh38:
Chr1:15173497-17019576
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059900
7.
GRCh37:
Chr1:15499993-18569172
GRCh38:
Chr1:15173497-18242678
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059898
8.
GRCh37:
Chr1:15711763-21306842
GRCh38:
Chr1:15385267-20980349
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057443
9.
GRCh37:
Chr1:16008307-19988832
GRCh38:
Chr1:15681812-19662339
See casesPathogenic
(Jan 10, 2012)
no assertion criteria providedVCV000149010
10.
GRCh37:
Chr1:17345113
GRCh38:
Chr1:17018618
SDHBnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001257785
11.
GRCh37:
Chr1:17345192-17345217
GRCh38:
Chr1:17018697-17018722
SDHBnot specifiedUncertain significance
(Apr 7, 2016)
criteria provided, single submitterVCV000165178
12.
GRCh37:
Chr1:17345217
GRCh38:
Chr1:17018722
SDHBnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001292226
13.
GRCh37:
Chr1:17345217-17380665
GRCh38:
Chr1:17018722-17054170
SDHBGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(Nov 28, 2016)
criteria provided, single submitterVCV000417580
14.
GRCh37:
Chr1:17345217-17345453
GRCh38:
Chr1:17018722-17018958
SDHBGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(Jun 21, 2016)
criteria provided, single submitterVCV000417579
15.
GRCh37:
Chr1:17345217-17380665
GRCh38:
Chr1:17018722-17054170
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Pathogenic
(Sep 15, 2016)
criteria provided, single submitterVCV000239419
16.
GRCh37:
Chr1:17345243
GRCh38:
Chr1:17018748
SDHBHereditary Paraganglioma-Pheochromocytoma Syndromes, Carney-Stratakis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000293807
17.
GRCh37:
Chr1:17345274
GRCh38:
Chr1:17018779
SDHBHereditary Paraganglioma-Pheochromocytoma Syndromes, Carney-Stratakis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000293808
18.
GRCh37:
Chr1:17345366-17345463
GRCh38:
Chr1:17018871-17018968
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Pathogenic
(Oct 10, 2018)
criteria provided, single submitterVCV000649062
19.
GRCh37:
Chr1:17345366-17380524
GRCh38:
Chr1:17018871-17054029
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Pathogenic
(Jul 10, 2019)
criteria provided, single submitterVCV000646398
20.
GRCh37:
Chr1:17345366-17380524
GRCh38:
Chr1:17018871-17054029
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Jul 25, 2019)
criteria provided, single submitterVCV000584357
21.
GRCh37:
Chr1:17345370-17359646
GRCh38:
Chr1:17018875-17033151
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Pathogenic
(Jan 26, 2018)
criteria provided, single submitterVCV000583909
22.
GRCh37:
Chr1:17345370-17355237
GRCh38:
Chr1:17018875-17028742
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor
Uncertain significance
(Oct 5, 2017)
criteria provided, single submitterVCV000528765
23.
GRCh37:
Chr1:17345370-17371389
GRCh38:
Chr1:17018875-17044894
SDHBParagangliomas 4Pathogenic
(Apr 20, 2017)
criteria provided, single submitterVCV000468230
24.
GRCh37:
Chr1:17345376-17397986
GRCh38:
Chr1:17018881-17071491
SDHB, PADI2Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Pathogenic
(May 31, 2018)
criteria provided, single submitterVCV000584021
25.
GRCh37:
Chr1:17345378
GRCh38:
Chr1:17018883
SDHBHereditary cancer-predisposing syndromeUncertain significance
(Oct 9, 2019)
criteria provided, single submitterVCV000822405
26.
GRCh37:
Chr1:17345382
GRCh38:
Chr1:17018887
SDHBHereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stroma tumor,
Paragangliomas 4
Likely benign
(Nov 3, 2019)
criteria provided, multiple submitters, no conflictsVCV000750812
27.
GRCh37:
Chr1:17345384
GRCh38:
Chr1:17018889
SDHBS279TPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Aug 1, 2020)
criteria provided, single submitterVCV000657450
28.
GRCh37:
Chr1:17345385
GRCh38:
Chr1:17018890
SDHBnot providedLikely benign
(May 17, 2018)
criteria provided, single submitterVCV000668544
29.
GRCh37:
Chr1:17345391
GRCh38:
Chr1:17018896
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(May 13, 2020)
criteria provided, single submitterVCV001138626
30.
GRCh37:
Chr1:17345394-17345396
GRCh38:
Chr1:17018899-17018901
SDHBE275delPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Mar 7, 2019)
criteria provided, single submitterVCV000855785
31.
GRCh37:
Chr1:17345399
GRCh38:
Chr1:17018904
SDHBK274EGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma,
not provided
Uncertain significance
(Jun 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000459174
32.
GRCh37:
Chr1:17345400
GRCh38:
Chr1:17018905
SDHBY273*Paragangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor
Uncertain significance
(Jan 9, 2018)
criteria provided, single submitterVCV000528724
33.
GRCh37:
Chr1:17345401
GRCh38:
Chr1:17018906
SDHBY273FGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000486424
34.
GRCh37:
Chr1:17345403
GRCh38:
Chr1:17018908
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Likely benign
(Jan 19, 2017)
criteria provided, single submitterVCV000459173
35.
GRCh37:
Chr1:17345405
GRCh38:
Chr1:17018910
SDHBT272AHereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, Pheochromocytoma,
Paragangliomas 4
Uncertain significance
(Oct 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000412468
36.
GRCh37:
Chr1:17345407
GRCh38:
Chr1:17018912
SDHBA271VPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4,
not provided
Uncertain significance
(Feb 25, 2021)
criteria provided, multiple submitters, no conflictsVCV001015358
37.
GRCh37:
Chr1:17345409
GRCh38:
Chr1:17018914
SDHBM270IHereditary cancer-predisposing syndromeUncertain significance
(Oct 31, 2018)
criteria provided, single submitterVCV000827459
38.
GRCh37:
Chr1:17345411
GRCh38:
Chr1:17018916
SDHBM270VGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Feb 24, 2016)
criteria provided, single submitterVCV000239445
39.
GRCh37:
Chr1:17345414
GRCh38:
Chr1:17018919
SDHBM269VGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Jul 10, 2018)
criteria provided, single submitterVCV000640500
40.
GRCh37:
Chr1:17345417
GRCh38:
Chr1:17018922
SDHBK268*Gastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(Oct 24, 2018)
criteria provided, single submitterVCV000412460
41.
GRCh37:
Chr1:17345418
GRCh38:
Chr1:17018923
SDHBK267NGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Mar 9, 2018)
criteria provided, single submitterVCV000570629
42.
GRCh37:
Chr1:17345420
GRCh38:
Chr1:17018925
SDHBK267EPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Jul 11, 2019)
criteria provided, single submitterVCV000954035
43.
GRCh37:
Chr1:17345421
GRCh38:
Chr1:17018926
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Apr 20, 2020)
criteria provided, single submitterVCV001095713
44.
GRCh37:
Chr1:17345426
GRCh38:
Chr1:17018931
SDHBE265KPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Jan 25, 2020)
criteria provided, single submitterVCV001062289
45.
GRCh37:
Chr1:17345428
GRCh38:
Chr1:17018933
SDHBA264EGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Feb 25, 2018)
criteria provided, single submitterVCV000567410
46.
GRCh37:
Chr1:17345430
GRCh38:
Chr1:17018935
SDHBI263fsPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Oct 5, 2019)
criteria provided, single submitterVCV000934413
47.
GRCh37:
Chr1:17345430
GRCh38:
Chr1:17018935
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor,
Hereditary cancer-predisposing syndrome
Likely benign
(Dec 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000827319
48.
GRCh37:
Chr1:17345431-17345432
GRCh38:
Chr1:17018936-17018937
SDHBI263fsGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4,
not provided
Likely pathogenic
(May 17, 2018)
criteria provided, multiple submitters, no conflictsVCV000421424
49.
GRCh37:
Chr1:17345433-17345434
GRCh38:
Chr1:17018938-17018939
SDHBI263fsParagangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor
Likely pathogenic
(May 12, 2018)
criteria provided, single submitterVCV000528748
50.
GRCh37:
Chr1:17345436
GRCh38:
Chr1:17018941
SDHBGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Likely benign
(Nov 13, 2020)
criteria provided, single submitterVCV000417297
51.
GRCh37:
Chr1:17345437
GRCh38:
Chr1:17018942
SDHBK261TGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Mar 6, 2017)
criteria provided, single submitterVCV000459172
52.
GRCh37:
Chr1:17345438-17345439
GRCh38:
Chr1:17018943-17018944
SDHBK261fsGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Likely pathogenic
(Jul 9, 2018)
criteria provided, single submitterVCV000576131
53.
GRCh37:
Chr1:17345441
GRCh38:
Chr1:17018946
SDHBG260RPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Jul 14, 2019)
criteria provided, single submitterVCV000945045
54.
GRCh37:
Chr1:17345442
GRCh38:
Chr1:17018947
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Likely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001148191
55.
GRCh37:
Chr1:17345444
GRCh38:
Chr1:17018949
SDHBP259TPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(May 23, 2019)
criteria provided, single submitterVCV000936683
56.
GRCh37:
Chr1:17345446
GRCh38:
Chr1:17018951
SDHBN258TPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Aug 5, 2018)
criteria provided, single submitterVCV000654253
57.
GRCh37:
Chr1:17345447
GRCh38:
Chr1:17018952
SDHBN258HPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Sep 16, 2020)
criteria provided, single submitterVCV001043740
58.
GRCh37:
Chr1:17345448
GRCh38:
Chr1:17018953
SDHBHereditary cancer-predisposing syndromeLikely benign
(Mar 7, 2019)
criteria provided, single submitterVCV000827221
59.
GRCh37:
Chr1:17345449
GRCh38:
Chr1:17018954
SDHBL257RPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Oct 29, 2018)
criteria provided, single submitterVCV000653894
60.
GRCh37:
Chr1:17345450
GRCh38:
Chr1:17018955
SDHBL257VCowden syndrome, Mitochondrial complex 2 deficiency, nuclear type 4, Gastrointestinal stroma tumor,
Paragangliomas 4, Pheochromocytoma
Uncertain significance
(Nov 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000584582
61.
GRCh37:
Chr1:17345451
GRCh38:
Chr1:17018956
SDHBGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Likely benign
(Mar 4, 2020)
criteria provided, single submitterVCV000417304
62.
GRCh37:
Chr1:17345458
GRCh38:
Chr1:17018963
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Feb 26, 2020)
criteria provided, single submitterVCV001129006
63.
GRCh37:
Chr1:17345459
GRCh38:
Chr1:17018964
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor
Likely benign
(Aug 31, 2017)
criteria provided, single submitterVCV000528758
64.
GRCh37:
Chr1:17345462
GRCh38:
Chr1:17018967
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Sep 5, 2020)
criteria provided, single submitterVCV001138562
65.
GRCh37:
Chr1:17345472
GRCh38:
Chr1:17018977
SDHBnot specifiedLikely benign
(May 11, 2017)
criteria provided, single submitterVCV000509480
66.
GRCh37:
Chr1:17345473
GRCh38:
Chr1:17018978
SDHBnot specifiedLikely benign
(Apr 26, 2016)
criteria provided, single submitterVCV000385761
67.
GRCh37:
Chr1:17345493
GRCh38:
Chr1:17018998
SDHBnot providedLikely benign
(Jun 12, 2018)
criteria provided, single submitterVCV000676873
68.
GRCh37:
Chr1:17345624-17345625
GRCh38:
Chr1:17019129-17019130
SDHBnot providedBenign
(Jun 15, 2018)
criteria provided, single submitterVCV000677081
69.
GRCh37:
Chr1:17348847
GRCh38:
Chr1:17022352
SDHBnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292471
70.
GRCh37:
Chr1:17349070-17349107
GRCh38:
Chr1:17022575-17022612
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Pathogenic
(Aug 13, 2019)
criteria provided, single submitterVCV000963664
71.
GRCh37:
Chr1:17349074
GRCh38:
Chr1:17022579
SDHBHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria providedVCV000224008
72.
GRCh37:
Chr1:17349090
GRCh38:
Chr1:17022595
SDHBParagangliomas 4, not specifiedBenign/Likely benign
(Oct 6, 2016)
criteria provided, multiple submitters, no conflictsVCV000258891
73.
GRCh37:
Chr1:17349095
GRCh38:
Chr1:17022600
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001111318
74.
GRCh37:
Chr1:17349095
GRCh38:
Chr1:17022600
SDHBParagangliomas 4, Pheochromocytoma, Gastrointestinal stroma tumor
Likely benign
(Aug 31, 2017)
criteria provided, single submitterVCV000528760
75.
GRCh37:
Chr1:17349097
GRCh38:
Chr1:17022602
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001062600
76.
GRCh37:
Chr1:17349098
GRCh38:
Chr1:17022603
SDHBHereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, Pheochromocytoma,
Paragangliomas 4
Uncertain significance
(Aug 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000412480
77.
GRCh37:
Chr1:17349098
GRCh38:
Chr1:17022603
SDHBHereditary cancer-predisposing syndromeUncertain significance
(Mar 11, 2015)
criteria provided, single submitterVCV000230780
78.
GRCh37:
Chr1:17349099
GRCh38:
Chr1:17022604
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Oct 22, 2018)
criteria provided, single submitterVCV000642502
79.
GRCh37:
Chr1:17349099
GRCh38:
Chr1:17022604
SDHBHereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, Paragangliomas 4,
Pheochromocytoma
Uncertain significance
(Jun 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000578523
80.
GRCh37:
Chr1:17349099-17349112
GRCh38:
Chr1:17022604-17022617
SDHBGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma
Uncertain significance
(May 11, 2017)
criteria provided, single submitterVCV000459171
81.
GRCh37:
Chr1:17349100
GRCh38:
Chr1:17022605
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Nov 20, 2019)
criteria provided, single submitterVCV000837850
82.
GRCh37:
Chr1:17349102
GRCh38:
Chr1:17022607
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Pathogenic
(Jul 5, 2020)
criteria provided, single submitterVCV001072115
83.
GRCh37:
Chr1:17349103
GRCh38:
Chr1:17022608
SDHBK255NPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(May 2, 2019)
criteria provided, single submitterVCV000658364
84.
GRCh37:
Chr1:17349105
GRCh38:
Chr1:17022610
SDHBK255EPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000656886
85.
GRCh37:
Chr1:17349106
GRCh38:
Chr1:17022611
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Apr 26, 2020)
criteria provided, single submitterVCV001097988
86.
GRCh37:
Chr1:17349106-17349107
GRCh38:
Chr1:17022611-17022612
SDHBHereditary Paraganglioma-Pheochromocytoma SyndromesPathogenicno assertion criteria providedVCV000438429
87.
GRCh37:
Chr1:17349107
GRCh38:
Chr1:17022612
SDHBP254LGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4
Uncertain significance
(Nov 26, 2019)
criteria provided, single submitterVCV000412459
88.
GRCh37:
Chr1:17349110
GRCh38:
Chr1:17022615
SDHBC253YGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome
Likely pathogenic
(Feb 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000183795
89.
GRCh37:
Chr1:17349115
GRCh38:
Chr1:17022620
SDHBPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Likely benign
(Jun 28, 2019)
criteria provided, single submitterVCV001111279
90.
GRCh37:
Chr1:17349115
GRCh38:
Chr1:17022620
SDHBR251SPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV000965957
91.
GRCh37:
Chr1:17349119
GRCh38:
Chr1:17022624
SDHBT250IGastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome, Paragangliomas 4
Uncertain significance
(Mar 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000371792
92.
GRCh37:
Chr1:17349122
GRCh38:
Chr1:17022627
SDHBC249SPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitterVCV000838700
93.
GRCh37:
Chr1:17349122
GRCh38:
Chr1:17022627
SDHBC249Ynot providedLikely pathogenic
(Feb 15, 2017)
criteria provided, single submitterVCV000420071
94.
GRCh37:
Chr1:17349123
GRCh38:
Chr1:17022628
SDHBC249Rnot providedUncertain significance
(Mar 23, 2016)
criteria provided, single submitterVCV000420730
95.
GRCh37:
Chr1:17349124
GRCh38:
Chr1:17022629
SDHBN248KGastrointestinal stroma tumor, Pheochromocytoma, Paragangliomas 4,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 14, 2019)
criteria provided, conflicting interpretationsVCV000428929
96.
GRCh37:
Chr1:17349125
GRCh38:
Chr1:17022630
SDHBN248SPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV001023033
97.
GRCh37:
Chr1:17349127
GRCh38:
Chr1:17022632
SDHBM247IPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4
Uncertain significance
(Jan 23, 2020)
criteria provided, single submitterVCV001024777
98.
GRCh37:
Chr1:17349127
GRCh38:
Chr1:17022632
SDHBM247IPheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor
Uncertain significance
(Oct 25, 2019)
criteria provided, single submitterVCV000962306
99.
GRCh37:
Chr1:17349129
GRCh38:
Chr1:17022634
SDHBM247VParagangliomas 4, Gastrointestinal stroma tumor, Paragangliomas 4,
Pheochromocytoma, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000459169
100.
GRCh37:
Chr1:17349130
GRCh38:
Chr1:17022635
SDHBPheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome, not provided
Likely benign
(Nov 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000699234
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