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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:100026-19625909
GRCh38:
Chr10:54086-19336980
ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, BEND7-DT, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GATA3-AS1, GDI2, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC02561, LINC02639, LINC02642, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINP1, LOC100421372, LOC101927964, LOC101928272, LOC101928453, LOC101930421, LOC105376353, LOC105376360, LOC105376398, LOC105376430, LOC106783505, LOC106783507, LOC107275222, LOC107275223, LOC107275226, LOC108348022, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1265, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR511, MIR548AK, MIR548Q, MIR5699, MIR6072, MIR6078, MRC1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PFKP, PFKP-DT, PHYH, PITRM1, PITRM1-AS1, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, TAF3, TASOR2, TMEM236, TRDMT1, TRV-TAC3-1, TUBAL3, TUBB8, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155636
2.
GRCh37:
Chr10:224406-19472976
GRCh38:
Chr10:69261-19184047
ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8P, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, BEND7-DT, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GATA3-AS1, GDI2, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC02561, LINC02639, LINC02642, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINP1, LOC100421372, LOC101927964, LOC101928272, LOC101928453, LOC101930421, LOC105376353, LOC105376360, LOC105376398, LOC105376430, LOC106783505, LOC106783507, LOC107275222, LOC107275223, LOC107275226, LOC108348022, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1265, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR511, MIR548AK, MIR548Q, MIR5699, MIR6072, MIR6078, MRC1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PFKP, PFKP-DT, PHYH, PITRM1, PITRM1-AS1, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, TAF3, TASOR2, TMEM236, TRDMT1, TRV-TAC3-1, TUBAL3, TUBB8, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059657
3.
GRCh37:
Chr10:224406-26628907
GRCh38:
Chr10:90205-26339978
ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ANKRD16, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BEND7, BEND7-DT, BMI1, C10orf113, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, DNAJC1, EBLN1, ECHDC3, ENKUR, FAM107B, FAM171A1, FBH1, FRMD4A, GAD2, GATA3, GATA3-AS1, GDI2, GPR158, GPR158-AS1, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIAA1217, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC01516, LINC01552, LINC02561, LINC02639, LINC02642, LINC02643, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINP1, LOC100130992, LOC100421372, LOC100499489, LOC101927964, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101930421, LOC105376353, LOC105376360, LOC105376398, LOC105376430, LOC106783505, LOC106783507, LOC106783576, LOC107275222, LOC107275223, LOC107275226, LOC108348022, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC110121476, LOC111464994, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1254-2, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR4675, MIR511, MIR548AK, MIR548Q, MIR5699, MIR603, MIR6072, MIR6078, MLLT10, MRC1, MSRB2, MYO3A, NEBL, NEBL-AS1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, OTUD1, PFKFB3, PFKP, PFKP-DT, PHYH, PIP4K2A, PITRM1, PITRM1-AS1, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTER, PTF1A, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, TAF3, TASOR2, THNSL1, TMEM236, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149407
4.
GRCh37:
Chr10:224406-22856354
GRCh38:
Chr10:90221-22567425
ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8P, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, BEND7-DT, BMI1, C10orf113, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, DNAJC1, EBLN1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GATA3-AS1, GDI2, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC02561, LINC02639, LINC02642, LINC02643, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINP1, LOC100130992, LOC100421372, LOC100499489, LOC101927964, LOC101928272, LOC101928453, LOC101928834, LOC101930421, LOC105376353, LOC105376360, LOC105376398, LOC105376430, LOC106783505, LOC106783507, LOC106783576, LOC107275222, LOC107275223, LOC107275226, LOC108348022, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR4675, MIR511, MIR548AK, MIR548Q, MIR5699, MIR6072, MIR6078, MLLT10, MRC1, NEBL, NEBL-AS1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PFKP, PFKP-DT, PHYH, PIP4K2A, PITRM1, PITRM1-AS1, PLXDC2, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, TAF3, TASOR2, TMEM236, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059658
5.
GRCh37:
Chr10:4646926-47531169
GRCh38:
Chr10:4604734-48074662
ABI1, ACBD5, ACBD7, ACBD7-DCLRE1CP1, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BEND7-DT, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, EPC1-AS1, FAM107B, FAM171A1, FAM238A, FAM238B, FAM238C, FAM245B, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GATA3-AS1, GDF10, GDF2, GDI2, GJD4, GPR158, GPR158-AS1, GPRIN2, HACD1, HNRNPF, HSPA14, IATPR, IL15RA, IL2RA, ITGA8, ITGB1, ITGB1-DT, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, LASTR, LINC00619, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00993, LINC00999, LINC01264, LINC01516, LINC01517, LINC01518, LINC01552, LINC02561, LINC02623, LINC02628, LINC02629, LINC02630, LINC02634, LINC02637, LINC02642, LINC02643, LINC02644, LINC02648, LINC02649, LINC02652, LINC02654, LINC02656, LINC02658, LINC02659, LINC02664, LINC02665, LINC02670, LINC02673, LINC02676, LINC02677, LINC02678, LINC02881, LINP1, LOC100130992, LOC100421372, LOC100499489, LOC100505502, LOC101927699, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101929117, LOC101929279, LOC101929431, LOC102724323, LOC102724488, LOC102724593, LOC105376398, LOC105376430, LOC105378269, LOC105378292, LOC105378577, LOC106736614, LOC106783505, LOC106783576, LOC107001062, LOC107275222, LOC107275223, LOC107275226, LOC108004524, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121348, LOC110121355, LOC110121399, LOC110121405, LOC110121406, LOC110121476, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111464994, LOC111501766, LOC111589212, LOC111818964, LOC111818965, LOC111818966, LOC111818967, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946232, LOC111946234, LOC111946236, LOC111946237, LOC111946238, LOC111946239, LOC111946241, LOC111946242, LOC111946244, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC114827857, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC283028, LYZL1, LYZL2, MACORIS, MALRD1, MANCR, MAP3K8, MARCHF8, MASTL, MCM10, MCS+9.7, MEIG1, MINDY3, MIR1254-2, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR3156-1, MIR3611, MIR4293, MIR4480, MIR4481, MIR4675, MIR4683, MIR5100, MIR511, MIR548AK, MIR548Q, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MRC1, MSMB, MSRB2, MTPAP, MTRNR2L7, MYO3A, NCOA4, NEBL, NEBL-AS1, NET1, NMT2, NPY4R, NPY4R2, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PARD3-DT, PCAT5, PDSS1, PFKFB3, PHYH, PIP4K2A, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORA74C-1, SNORA86, SNORD129, SNORD130, SNORD3J, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SVIL, SVIL-AS1, SYT15, TAF3, TASOR2, THNSL1, TIMM23, TMEM236, TMEM72, TMEM72-AS1, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WAC, WAC-AS1, WASHC2C, YME1L1, ZEB1, ZEB1-AS1, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488
See casesBenign
(Feb 4, 2013)
no assertion criteria providedVCV000152998
6.
GRCh37:
Chr10:7470732-21876681
GRCh38:
Chr10:7428770-21587752
See casesPathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000148232
7.
GRCh37:
Chr10:16753538-17305601
GRCh38:
Chr10:16711539-17263602
CUBN, LOC111501766, LOC121366045, RSU1, TRDMT1, VIM, VIM-AS1See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000153711
8.
GRCh37:
Chr10:16866034
GRCh38:
Chr10:16824035
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000878187
9.
GRCh37:
Chr10:16866091
GRCh38:
Chr10:16824092
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299323
10.
GRCh37:
Chr10:16866102
GRCh38:
Chr10:16824103
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000878188
11.
GRCh37:
Chr10:16866180
GRCh38:
Chr10:16824181
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299324
12.
GRCh37:
Chr10:16866188
GRCh38:
Chr10:16824189
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299325
13.
GRCh37:
Chr10:16866192
GRCh38:
Chr10:16824193
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299326
14.
GRCh37:
Chr10:16866193
GRCh38:
Chr10:16824194
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000299327
15.
GRCh37:
Chr10:16866205
GRCh38:
Chr10:16824206
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000878189
16.
GRCh37:
Chr10:16866237
GRCh38:
Chr10:16824238
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000299328
17.
GRCh37:
Chr10:16866240
GRCh38:
Chr10:16824241
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299329
18.
GRCh37:
Chr10:16866305
GRCh38:
Chr10:16824306
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879639
19.
GRCh37:
Chr10:16866373
GRCh38:
Chr10:16824374
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000299330
20.
GRCh37:
Chr10:16866377
GRCh38:
Chr10:16824378
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 19, 2018)
criteria provided, single submitterVCV000879640
21.
GRCh37:
Chr10:16866410
GRCh38:
Chr10:16824411
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299331
22.
GRCh37:
Chr10:16866414
GRCh38:
Chr10:16824415
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299332
23.
GRCh37:
Chr10:16866460
GRCh38:
Chr10:16824461
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299333
24.
GRCh37:
Chr10:16866504
GRCh38:
Chr10:16824505
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299334
25.
GRCh37:
Chr10:16866514
GRCh38:
Chr10:16824515
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880003
26.
GRCh37:
Chr10:16866521
GRCh38:
Chr10:16824522
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880004
27.
GRCh37:
Chr10:16866528
GRCh38:
Chr10:16824529
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880005
28.
GRCh37:
Chr10:16866538
GRCh38:
Chr10:16824539
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299335
29.
GRCh37:
Chr10:16866554
GRCh38:
Chr10:16824555
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000299336
30.
GRCh37:
Chr10:16866558
GRCh38:
Chr10:16824559
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299337
31.
GRCh37:
Chr10:16866594
GRCh38:
Chr10:16824595
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000880006
32.
GRCh37:
Chr10:16866601
GRCh38:
Chr10:16824602
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299338
33.
GRCh37:
Chr10:16866644
GRCh38:
Chr10:16824645
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000877207
34.
GRCh37:
Chr10:16866644
GRCh38:
Chr10:16824645
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000299339
35.
GRCh37:
Chr10:16866645
GRCh38:
Chr10:16824646
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299341
36.
GRCh37:
Chr10:16866645
GRCh38:
Chr10:16824646
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299340
37.
GRCh37:
Chr10:16866669
GRCh38:
Chr10:16824670
CUBNImerslund-Gräsbeck syndrome 1, not providedBenign
(Nov 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000299342
38.
GRCh37:
Chr10:16866670
GRCh38:
Chr10:16824671
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877208
39.
GRCh37:
Chr10:16866676
GRCh38:
Chr10:16824677
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877209
40.
GRCh37:
Chr10:16866677
GRCh38:
Chr10:16824678
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299343
41.
GRCh37:
Chr10:16866693
GRCh38:
Chr10:16824694
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299344
42.
GRCh37:
Chr10:16866707
GRCh38:
Chr10:16824708
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000878250
43.
GRCh37:
Chr10:16866708
GRCh38:
Chr10:16824709
CUBNImerslund-Gräsbeck syndrome 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000299345
44.
GRCh37:
Chr10:16866771
GRCh38:
Chr10:16824772
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299346
45.
GRCh37:
Chr10:16866779
GRCh38:
Chr10:16824780
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299347
46.
GRCh37:
Chr10:16866797
GRCh38:
Chr10:16824798
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299348
47.
GRCh37:
Chr10:16866812
GRCh38:
Chr10:16824813
CUBNMegaloblastic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000299349
48.
GRCh37:
Chr10:16866823
GRCh38:
Chr10:16824824
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000299350
49.
GRCh37:
Chr10:16866840
GRCh38:
Chr10:16824841
CUBNImerslund-Gräsbeck syndrome 1, not providedBenign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000299351
50.
GRCh37:
Chr10:16866881
GRCh38:
Chr10:16824882
CUBNImerslund-Gräsbeck syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000299352
51.
GRCh37:
Chr10:16866893
GRCh38:
Chr10:16824894
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299353
52.
GRCh37:
Chr10:16866929
GRCh38:
Chr10:16824930
CUBNnot provided, Imerslund-Gräsbeck syndrome 1Benign/Likely benign
(Mar 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000299354
53.
GRCh37:
Chr10:16866959
GRCh38:
Chr10:16824960
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000878850
54.
GRCh37:
Chr10:16866993
GRCh38:
Chr10:16824994
CUBNR3618QImerslund-Gräsbeck syndromeUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000939620
55.
GRCh37:
Chr10:16866994
GRCh38:
Chr10:16824995
CUBNR3618*Proteinuria, chronic benignAffects
(May 19, 2020)
no assertion criteria providedVCV000873115
56.
GRCh37:
Chr10:16867000
GRCh38:
Chr10:16825001
CUBNA3616TImerslund-Gräsbeck syndrome, Imerslund-Gräsbeck syndrome 1Uncertain significance
(Mar 2, 2019)
criteria provided, multiple submitters, no conflictsVCV000299355
57.
GRCh37:
Chr10:16867008
GRCh38:
Chr10:16825009
CUBNR3613HImerslund-Gräsbeck syndromeUncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV001021317
58.
GRCh37:
Chr10:16867048
GRCh38:
Chr10:16825049
CUBNN3600HImerslund-Gräsbeck syndromeUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001006442
59.
GRCh37:
Chr10:16867069
GRCh38:
Chr10:16825070
CUBNA3593TImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000878851
60.
GRCh37:
Chr10:16867159
GRCh38:
Chr10:16825160
CUBNnot providedLikely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001203586
61.
GRCh37:
Chr10:16870522
GRCh38:
Chr10:16828523
CUBNnot providedLikely benign
(Apr 29, 2020)
criteria provided, single submitterVCV001187091
62.
GRCh37:
Chr10:16870553
GRCh38:
Chr10:16828554
CUBNnot providedLikely benign
(May 4, 2020)
criteria provided, single submitterVCV001211992
63.
GRCh37:
Chr10:16870625
GRCh38:
Chr10:16828626
CUBNnot providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001244936
64.
GRCh37:
Chr10:16870675
GRCh38:
Chr10:16828676
CUBNnot providedBenign
(Jul 26, 2019)
criteria provided, single submitterVCV001273473
65.
GRCh37:
Chr10:16870693
GRCh38:
Chr10:16828694
CUBNnot providedLikely benign
(Aug 10, 2018)
criteria provided, single submitterVCV001204450
66.
GRCh37:
Chr10:16870722
GRCh38:
Chr10:16828723
CUBNnot providedLikely benign
(Aug 20, 2019)
criteria provided, single submitterVCV001208835
67.
GRCh37:
Chr10:16870803
GRCh38:
Chr10:16828804
CUBNImerslund-Gräsbeck syndromeUncertain significance
(Oct 21, 2018)
criteria provided, single submitterVCV000632130
68.
GRCh37:
Chr10:16870809
GRCh38:
Chr10:16828810
CUBNG3587RImerslund-Gräsbeck syndrome, Imerslund-Gräsbeck syndrome 1Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000299356
69.
GRCh37:
Chr10:16870816
GRCh38:
Chr10:16828817
CUBNImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299357
70.
GRCh37:
Chr10:16870826
GRCh38:
Chr10:16828827
CUBNS3581FImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880057
71.
GRCh37:
Chr10:16870832
GRCh38:
Chr10:16828833
CUBNS3579FImerslund-Gräsbeck syndrome, Imerslund-Gräsbeck syndrome 1Uncertain significance
(May 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000880058
72.
GRCh37:
Chr10:16870839
GRCh38:
Chr10:16828840
CUBNA3577TImerslund-Gräsbeck syndrome, Imerslund-Gräsbeck syndrome 1Conflicting interpretations of pathogenicity
(Mar 18, 2020)
criteria provided, conflicting interpretationsVCV000880059
73.
GRCh37:
Chr10:16870840
GRCh38:
Chr10:16828841
CUBNN3576KImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880060
74.
GRCh37:
Chr10:16870846
GRCh38:
Chr10:16828847
CUBNnot providedLikely benign
(Jun 18, 2018)
criteria provided, single submitterVCV000752553
75.
GRCh37:
Chr10:16870858
GRCh38:
Chr10:16828859
CUBNImerslund-Gräsbeck syndromeLikely benign
(May 26, 2020)
criteria provided, single submitterVCV001152085
76.
GRCh37:
Chr10:16870912
GRCh38:
Chr10:16828913
CUBNImerslund-Gräsbeck syndrome 1, Imerslund-Gräsbeck syndromeBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000695358
77.
GRCh37:
Chr10:16870912
GRCh38:
Chr10:16828913
CUBNN3552KImerslund-Gräsbeck syndrome 1, not provided, Imerslund-Gräsbeck syndrome
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000299358
78.
GRCh37:
Chr10:16870927
GRCh38:
Chr10:16828928
CUBNImerslund-Gräsbeck syndrome 1, not providedUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000289333
79.
GRCh37:
Chr10:16870956
GRCh38:
Chr10:16828957
CUBNE3538KImerslund-Gräsbeck syndromeUncertain significance
(Jul 3, 2018)
criteria provided, single submitterVCV000583202
80.
GRCh37:
Chr10:16870963
GRCh38:
Chr10:16828964
CUBNnot providedLikely benign
(Dec 14, 2018)
criteria provided, single submitterVCV000697307
81.
GRCh37:
Chr10:16870977
GRCh38:
Chr10:16828978
CUBNY3531HImerslund-Gräsbeck syndromeUncertain significance
(Jan 31, 2020)
criteria provided, single submitterVCV001017794
82.
GRCh37:
Chr10:16870992
GRCh38:
Chr10:16828993
CUBNG3526SImerslund-Gräsbeck syndrome, Imerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000877271
83.
GRCh37:
Chr10:16870993
GRCh38:
Chr10:16828994
CUBNnot provided, Imerslund-Gräsbeck syndrome 1Conflicting interpretations of pathogenicity
(Aug 30, 2018)
criteria provided, conflicting interpretationsVCV000695982
84.
GRCh37:
Chr10:16871321
GRCh38:
Chr10:16829322
CUBNnot providedBenign
(Aug 10, 2018)
criteria provided, single submitterVCV001261577
85.
GRCh37:
Chr10:16871341-16871342
GRCh38:
Chr10:16829342-16829343
CUBNnot providedBenign
(Dec 6, 2019)
criteria provided, single submitterVCV001276864
86.
GRCh37:
Chr10:16871341-16871342
GRCh38:
Chr10:16829342-16829343
CUBNnot providedBenign
(Dec 29, 2019)
criteria provided, single submitterVCV001276558
87.
GRCh37:
Chr10:16871341-16871342
GRCh38:
Chr10:16829342-16829343
CUBNnot providedBenign
(Oct 23, 2020)
criteria provided, single submitterVCV001267929
88.
GRCh37:
Chr10:16871341-16871342
GRCh38:
Chr10:16829342-16829343
CUBNnot providedBenign
(Aug 18, 2019)
criteria provided, single submitterVCV001228849
89.
GRCh37:
Chr10:16871342
GRCh38:
Chr10:16829343
CUBNnot providedBenign
(Nov 29, 2019)
criteria provided, single submitterVCV001280927
90.
GRCh37:
Chr10:16871354-16871355
GRCh38:
Chr10:16829355-16829356
CUBNnot providedBenign
(Aug 20, 2019)
criteria provided, single submitterVCV001263614
91.
GRCh37:
Chr10:16871358
GRCh38:
Chr10:16829359
CUBNnot providedBenign
(Jul 31, 2018)
criteria provided, single submitterVCV001288698
92.
GRCh37:
Chr10:16872957
GRCh38:
Chr10:16830958
CUBNnot providedBenign
(Jun 5, 2019)
criteria provided, single submitterVCV001242619
93.
GRCh37:
Chr10:16873080
GRCh38:
Chr10:16831081
CUBNnot providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001224796
94.
GRCh37:
Chr10:16873085-16873086
GRCh38:
Chr10:16831086-16831087
CUBNnot providedLikely benign
(Aug 18, 2019)
criteria provided, single submitterVCV001177731
95.
GRCh37:
Chr10:16873174
GRCh38:
Chr10:16831175
CUBNnot providedLikely benign
(May 6, 2019)
criteria provided, single submitterVCV001193996
96.
GRCh37:
Chr10:16873308
GRCh38:
Chr10:16831309
CUBNS3491GImerslund-Gräsbeck syndromeUncertain significance
(Jun 1, 2016)
criteria provided, multiple submitters, no conflictsVCV000522329
97.
GRCh37:
Chr10:16873313
GRCh38:
Chr10:16831314
CUBNF3489CImerslund-Gräsbeck syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299359
98.
GRCh37:
Chr10:16873317
GRCh38:
Chr10:16831318
CUBNR3488*Imerslund-Gräsbeck syndromePathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001074937
99.
GRCh37:
Chr10:16873332-16873348
GRCh38:
Chr10:16831333-16831349
CUBNnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591684
100.
GRCh37:
Chr10:16873396
GRCh38:
Chr10:16831397
CUBNImerslund-Gräsbeck syndrome, not specified, not provided,
Imerslund-Gräsbeck syndrome 1
Benign/Likely benign
(Jun 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000299360
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