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Items: 1 to 100 of 406

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
ACP1, ACYP2, ADCY3, ALK, APOB, RHOB, BCYRN1, ZFP36L2, CAD, CALM2, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, EPAS1, FKBP1B, FOSL2, FSHR, GCKR, MSH6, GTF3C2, HADHA, HADHB, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MATN3, MPV17, MSH2, MTIF2, MYCN, ODC1, VIT, PIGF, POMC, PPM1B, PPM1G, PPP1CB, PRKCE, EIF2AK2, RPS7, RPS27A, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SPTBN1, SRD5A2, STRN, ADAM17, TPO, EIPR1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, SOCS5, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, GPR75, YWHAQ, GTF2A1L, STON1, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PSME4, PUM2, RHOQ, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, ERLEC1, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, ASB3, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, CCDC88A, ALLC, KCNK12, DPYSL5, RTN4, TRIM54, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, FBXO11, WDCP, THUMPD2, CYRIA, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, MCFD2, ATP6V1E2, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, CFAP36, KLHL29, PPP1R21, CMPK2, MBOAT2, TMEM18, C2orf73, CIB4, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, SLC66A3, SILC1, TCF23, GAREM2, PLB1, LRATD1, RMDN2, GDF7, ADGRF3, OXER1, TOGARAM2, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, ALKAL2, LINC01936, LINC00486, STPG4, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, FAM166C, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, PCARE, LINC01913, TMEM247, LINC01118, TSPYL6, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, EML6, FLJ31356, CAPN14, CHAC2, MSH2-OT1, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, MIR559, LINC01874, LINC01249, DCDC2C, MAP4K3-DT, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, MAPRE3-AS1, LINC01126, LINC01460, LINC01119, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, BABAM2-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC01304, LINC02580, RNASEH1-AS1, SIX3-AS1, LOC100506142, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4431, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01883, LINC01939, SNTG2-AS1, RMDN2-AS1, LINC02583, LINC01804, EPCAM-DT, LINC01875, LINC01250, LOC101928222, LINC02850, DTNB-AS1, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR7158, MIR548BA, MIR7515, LINC01884, LINC01248, EML4-AS1, LINC01819, MIR7515HG, LINC01246, MIR8485, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3, LINC01865, LOC105373352, TMEM18-DT, LOC105373394, LINC01810, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, PRKCE-AS1, LINC01820, LINC01867, EML6-AS1, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, LOC106728414, LOC107457596, LOC107985837, LOC107985856, LINC01833, LOC108167315, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121071, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121235, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, LOC114004372, LOC114827832, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059133
2.
GRCh37:
Chr2:236816-46210371
GRCh38:
Chr2:236816-45983232
ACP1, ADCY3, ALK, APOB, RHOB, ZFP36L2, CAD, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, PPP1CB, MYCN, ODC1, VIT, POMC, PPM1B, PPM1G, PRKCE, EIF2AK2, RPS7, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SRD5A2, STRN, ADAM17, TPO, EIPR1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, WDCP, THUMPD2, CYRIA, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, SLC66A3, SILC1, TCF23, GAREM2, PLB1, LRATD1, RMDN2, GDF7, ADGRF3, OXER1, TOGARAM2, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, ALKAL2, LINC01936, LINC00486, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, FAM166C, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, PCARE, LINC01913, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, FLJ31356, CAPN14, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, LINC01874, LINC01249, DCDC2C, MAP4K3-DT, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, MAPRE3-AS1, LINC01126, LINC01460, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, BABAM2-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC01304, LINC02580, RNASEH1-AS1, SIX3-AS1, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01883, LINC01939, SNTG2-AS1, RMDN2-AS1, LINC01804, LINC01875, LINC01250, LOC101928222, LINC02850, DTNB-AS1, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR7158, MIR7515, LINC01884, LINC01248, EML4-AS1, LINC01819, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3, LINC01865, LOC105373352, TMEM18-DT, LOC105373394, LINC01810, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, PRKCE-AS1, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, LOC106728414, LOC107457596, LOC107985837, LOC107985856, LINC01833, LOC108167315, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157
See casesPathogenic
(Nov 19, 2013)
no assertion criteria providedVCV000155615
3.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
ACTG2, ACYP2, ADCY3, ADD2, ALK, ANXA4, APOB, RHOB, ATP6V1B1, AUP1, BCYRN1, ZFP36L2, CAD, CALM2, CAPG, CD8A, CD8B, CENPA, CTNNA2, CYP1B1, DCTN1, DDX1, DGUOK, DNAH6, DNMT3A, DOK1, DTNB, E2F6, EGR4, EMX1, EPAS1, EFEMP1, FKBP1B, FOSL2, FSHR, GCKR, GFPT1, GGCX, MSH6, GTF3C2, HADHA, HADHB, HK2, TLX2, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MXD1, MAT2A, MATN3, MDH1, MEIS1, MPV17, MSH2, MTIF2, MYCN, ODC1, OTX1, REG3A, PCBP1, PEX13, VIT, PIGF, PLEK, PLGLB1, POMC, PPM1B, PPM1G, PPP1CB, PPP3R1, PRKCE, EIF2AK2, RAB1A, REL, REG1A, REG1B, RPS27A, RRM2, RTKN, SDC1, SRSF7, SFTPB, SIX3, SLC1A4, SLC3A1, SLC8A1, SNRPG, SOS1, SPAST, SPR, SPTBN1, SRD5A2, STRN, ADAM17, TACR1, GCFC2, TGFA, TIA1, UCN, UGP2, VRK2, VSNL1, XDH, XPO1, SLC30A3, ALMS1, MOGS, RNF103, DYSF, DUSP11, KLF11, MAP4K3, NCOA1, VAMP8, SUCLG1, ASAP2, ST3GAL5, SLC5A6, EIF2B4, TAF1B, NAT8, COX7A2L, TMSB10, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, SOCS5, GREB1, USP34, LAPTM4A, SNX17, SERTAD2, MRPL19, SUPT7L, ARHGAP25, ACTR2, PREB, LRPPRC, PDIA6, CEBPZ, MPHOSPH10, SMYD5, MYCNOS, C1D, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, CGREF1, B3GNT2, USP39, SIX2, VAMP5, MTHFD2, PROKR1, RAB10, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, EMILIN1, GPN1, AAK1, MAPRE3, SLC4A1AP, EFR3B, WDR43, LPIN1, CEP68, PSME4, EXOC6B, EHBP1, PUM2, RHOQ, HAAO, WBP1, NTSR2, PRKD3, RASGRP3, QPCT, VAX2, POLR1A, CNRIP1, FAM98A, RAB11FIP5, IFT172, SNORD53, NFU1, ERLEC1, BMP10, ZNF638, HTRA2, EML4, TRIB2, LGALSL, GRHL1, NRBP1, EHD3, CD207, ITSN2, TPRKB, WDPCP, MEMO1, ASB3, CRIM1, RNF181, DNAJC27, MRPL35, ATRAID, PCYOX1, NAT8B, VPS54, NBAS, DYNC2LI1, SF3B6, YPEL5, CHMP3, CPSF3, BCL11A, ATAD2B, ETAA1, HEATR5B, AFTPH, TMEM214, RETSAT, SLC35F6, C2orf42, TRMT61B, PTCD3, FANCL, SRBD1, MOB1A, ASXL2, NDUFAF7, NAGK, TTC27, SLC30A6, CCDC88A, KDM3A, GKN1, CYP26B1, POLE4, KCNK12, KCMF1, DPYSL5, PNO1, RTN4, TRIM54, PELI1, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, SLC4A5, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, GMCL1, TTC31, RMND5A, FNDC4, PAPOLG, REEP1, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, ANKRD53, LRRTM4, FBXO11, WDCP, THUMPD2, CYRIA, LBH, TCF7L1, INO80B, WDR54, FAM161A, EVA1A, ANTXR1, ELMOD3, C2orf16, YIPF4, PRADC1, ZNF512, KIAA1841, DPY30, MCEE, LOXL3, ABHD1, PCGF1, CCDC142, FAM136A, ATOH8, SELENOI, LBX2, PNPT1, MCFD2, ATP6V1E2, LOC90784, DHX57, PKDCC, CAPN13, DRC1, HNRNPLL, NT5C1B, SFXN5, CYTOR, CFAP36, TEX261, CCDC85A, KLHL29, WDR92, MRPL53, PPP1R21, TRABD2A, TMEM150A, MBOAT2, C2orf73, CIB4, REG3G, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, SLC66A3, M1AP, COMMD1, FBXO41, TCF23, GAREM2, PUS10, LINC00309, PLB1, LRATD1, RMDN2, GDF7, ASPRV1, LBX2-AS1, ADGRF3, OXER1, TOGARAM2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, TET3, GKN2, APLF, KRTCAP3, TMEM17, SPRED2, SPDYA, ATP6V1C2, LCLAT1, GPATCH11, SH2D6, LOC284950, LINC01936, LINC00486, STPG4, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, FAM166C, PRR30, LINC00298, LINC00299, LOC339803, C2orf74, LINC02579, MSGN1, FIGLA, NOTO, CDKL4, LRRTM1, GEN1, C2orf48, PFN4, FAM228B, LOC375196, MFSD2B, PCARE, LINC01913, TMEM247, LINC01118, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, PTRHD1, SULT6B1, LINC01376, LINC00954, C2orf91, LINC01121, EML6, LINC01122, LINC01185, LINC02245, PCBP1-AS1, PAIP2B, RGPD1, FLJ31356, MIR216A, MIR217, CAPN14, CHAC2, FBXO48, MSH2-OT1, LINC01829, LINC01822, FAM228A, LOC653602, SNORD92, SNORD94, MIR558, MIR559, MAP4K3-DT, C1GALT1C1L, LINC01873, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MEIS1-AS3, TRA-AGC8-1, SNORA36C, SNORA70B, MIR216B, SLC8A1-AS1, OST4, TDRD15, LOC100129434, MAPRE3-AS1, LINC01126, LINC01460, LOC100132215, LINC01816, LINC01119, SNAR-H, TRY-GTA2-1, TRG-CCC2-1, TRI-TAT2-1, DCTN1-AS1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, MIR1285-2, BABAM2-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4264, MIR4261, MIR4263, MIR3125, MIR4262, MIR3126, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC02580, SIX3-AS1, LOC100506142, ID2-AS1, MIR3681HG, LOC100506474, LOC100507006, LINC01798, ZNF638-IT1, BOLA3-AS1, LINC01815, RNF103-CHMP3, NT5C1B-RDH14, INO80B-WBP1, MIR4430, MIR4779, MIR4765, MIR4433A, MIR4757, MIR4771-1, MIR4434, MIR4431, MIR4778, MIR4429, MIR4432, MIR548AD, MIR4435-1, PARTICL, MIR5000, MIR5192, MEIS1-AS2, AGBL5-AS1, DGUOK-AS1, LINC00570, TGFA-IT1, ALMS1-IT1, TCF7L1-IT1, HS1BP3-IT1, LINC01964, LINC01883, LINC01799, RMDN2-AS1, LINC02583, LINC01804, EPCAM-DT, LINC01813, LINC01793, LOC101927402, LINC01800, LINC01797, LOC101927661, LINC01812, ATP6V1B1-AS1, LINC01293, LOC101927884, LRRTM4-AS1, LINC01851, LOC101927948, LOC101927967, CTNNA2-AS1, LINC01809, ST3GAL5-AS1, LOC101928222, LINC02850, DTNB-AS1, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR4433B, MIR548BA, MIR8080, MIR6071, LINC01884, EML4-AS1, LINC01819, LINC02576, LINC01628, LINC02831, LINC01291, LOC102724579, LINC01828, MIR8485, MYCNUT, BIRC6-AS2, LINC01143, LINC01317, LINC01320, MIR217HG, GACAT3, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, PRKCE-AS1, LINC01820, LINC01867, EML6-AS1, LINC01795, LINC01805, LINC01890, LOC105374820, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, MIR4432HG, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107985770, LOC107985856, LINC01833, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, HHC2:066522, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, HCNR617, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, HHC2:065915, HHC2:065944, HHC2:066588, HHC2:066628, HHC2:066650, HHC2:066659, LOC111258509, HHC2:067347, HHC2:066104, HHC2:066644, HHC2:066683, LOC111258516, LOC111258517, LOC111258518, LOC111258520, HCNR606, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841600, LOC112841601, LOC112841602, LOC112841603, LOC112841604, LOC112841605, LOC114004370, LOC114004372, LOC114004373, LOC114827832, LOC114827836, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC115945159, LOC115945160, LOC115945161, LOC115945162, LOC115945164, LOC115945183
See casesBenign
(Feb 4, 2013)
no assertion criteria providedVCV000152995
4.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059143
5.
GRCh37:
Chr2:43903949-45243200
GRCh38:
Chr2:43676810-45016061
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000147991
6.
GRCh37:
Chr2:43989514-45187428
GRCh38:
Chr2:43762375-44960289
See casesUncertain significance
(Jan 27, 2011)
no assertion criteria providedVCV000146326
7.
GRCh37:
Chr2:44113363
GRCh38:
Chr2:43886224
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336097
8.
GRCh37:
Chr2:44113462
GRCh38:
Chr2:43886323
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336098
9.
GRCh37:
Chr2:44113494
GRCh38:
Chr2:43886355
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336099
10.
GRCh37:
Chr2:44113563
GRCh38:
Chr2:43886424
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336100
11.
GRCh37:
Chr2:44113640
GRCh38:
Chr2:43886501
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336101
12.
GRCh37:
Chr2:44113691
GRCh38:
Chr2:43886552
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336102
13.
GRCh37:
Chr2:44113698
GRCh38:
Chr2:43886559
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336104
14.
GRCh37:
Chr2:44113698
GRCh38:
Chr2:43886559
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336103
15.
GRCh37:
Chr2:44113758
GRCh38:
Chr2:43886619
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336105
16.
GRCh37:
Chr2:44113778
GRCh38:
Chr2:43886639
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336106
17.
GRCh37:
Chr2:44113828
GRCh38:
Chr2:43886689
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336107
18.
GRCh37:
Chr2:44113844
GRCh38:
Chr2:43886705
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336108
19.
GRCh37:
Chr2:44113867
GRCh38:
Chr2:43886728
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336109
20.
GRCh37:
Chr2:44113923
GRCh38:
Chr2:43886784
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336110
21.
GRCh37:
Chr2:44113933
GRCh38:
Chr2:43886794
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336111
22.
GRCh37:
Chr2:44114074
GRCh38:
Chr2:43886935
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336113
23.
GRCh37:
Chr2:44114074
GRCh38:
Chr2:43886935
LRPPRCLeigh syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000336112
24.
GRCh37:
Chr2:44114086
GRCh38:
Chr2:43886947
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336115
25.
GRCh37:
Chr2:44114086
GRCh38:
Chr2:43886947
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336114
26.
GRCh37:
Chr2:44114152
GRCh38:
Chr2:43887013
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336116
27.
GRCh37:
Chr2:44114155
GRCh38:
Chr2:43887016
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336117
28.
GRCh37:
Chr2:44114175
GRCh38:
Chr2:43887036
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336118
29.
GRCh37:
Chr2:44114176
GRCh38:
Chr2:43887037
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336119
30.
GRCh37:
Chr2:44114241
GRCh38:
Chr2:43887102
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336120
31.
GRCh37:
Chr2:44114283-44114294
GRCh38:
Chr2:43887144-43887155
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336122
32.
GRCh37:
Chr2:44114283-44114290
GRCh38:
Chr2:43887144-43887151
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336121
33.
GRCh37:
Chr2:44114304
GRCh38:
Chr2:43887165
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336123
34.
GRCh37:
Chr2:44114349-44114352
GRCh38:
Chr2:43887210-43887213
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336124
35.
GRCh37:
Chr2:44114368
GRCh38:
Chr2:43887229
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336125
36.
GRCh37:
Chr2:44114396
GRCh38:
Chr2:43887257
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336126
37.
GRCh37:
Chr2:44114404
GRCh38:
Chr2:43887265
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336127
38.
GRCh37:
Chr2:44114587
GRCh38:
Chr2:43887448
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336128
39.
GRCh37:
Chr2:44114618
GRCh38:
Chr2:43887479
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336129
40.
GRCh37:
Chr2:44114651
GRCh38:
Chr2:43887512
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336130
41.
GRCh37:
Chr2:44114914
GRCh38:
Chr2:43887775
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336131
42.
GRCh37:
Chr2:44115072
GRCh38:
Chr2:43887933
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336132
43.
GRCh37:
Chr2:44115092
GRCh38:
Chr2:43887953
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336133
44.
GRCh37:
Chr2:44115149
GRCh38:
Chr2:43888010
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336134
45.
GRCh37:
Chr2:44115162
GRCh38:
Chr2:43888023
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336135
46.
GRCh37:
Chr2:44115183
GRCh38:
Chr2:43888044
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336136
47.
GRCh37:
Chr2:44115205
GRCh38:
Chr2:43888066
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336137
48.
GRCh37:
Chr2:44115254
GRCh38:
Chr2:43888115
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336138
49.
GRCh37:
Chr2:44115283
GRCh38:
Chr2:43888144
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336139
50.
GRCh37:
Chr2:44115330
GRCh38:
Chr2:43888191
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336140
51.
GRCh37:
Chr2:44115340
GRCh38:
Chr2:43888201
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336141
52.
GRCh37:
Chr2:44115396
GRCh38:
Chr2:43888257
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336142
53.
GRCh37:
Chr2:44115741
GRCh38:
Chr2:43888603-43888607
LRPPRCLeigh syndrome, French Canadian typeUncertain significance
(Feb 16, 2017)
criteria provided, single submitterVCV000550769
54.
GRCh37:
Chr2:44115747
GRCh38:
Chr2:43888608
LRPPRCS1393ALeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336143
55.
GRCh37:
Chr2:44115768
GRCh38:
Chr2:43888629
LRPPRCL1386VLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336144
56.
GRCh37:
Chr2:44115792
GRCh38:
Chr2:43888653
LRPPRCS1378Gnot specified, not providedConflicting interpretations of pathogenicity
(Feb 14, 2019)
criteria provided, conflicting interpretationsVCV000214599
57.
GRCh37:
Chr2:44115803
GRCh38:
Chr2:43888664
LRPPRCnot specifiedLikely benign
(Feb 22, 2018)
criteria provided, single submitterVCV000515102
58.
GRCh37:
Chr2:44116100
GRCh38:
Chr2:43888961
LRPPRCnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684334
59.
GRCh37:
Chr2:44116871
GRCh38:
Chr2:43889732
LRPPRCLeigh syndrome, French Canadian typeLikely pathogenic
(Apr 7, 2017)
criteria provided, single submitterVCV000551420
60.
GRCh37:
Chr2:44116872
GRCh38:
Chr2:43889733
LRPPRCLeigh syndrome, French Canadian typeLikely pathogenic
(Apr 17, 2017)
criteria provided, single submitterVCV000551554
61.
GRCh37:
Chr2:44116872
GRCh38:
Chr2:43889734
LRPPRCLeigh syndrome, French Canadian typeUncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000553013
62.
GRCh37:
Chr2:44116873
GRCh38:
Chr2:43889734
LRPPRCE1377fsnot specified, Leigh syndrome, French Canadian typeUncertain significance
(Sep 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000225408
63.
GRCh37:
Chr2:44116923
GRCh38:
Chr2:43889784
LRPPRCA1360Tnot providedBenign
(Mar 4, 2019)
criteria provided, single submitterVCV000746339
64.
GRCh37:
Chr2:44116924
GRCh38:
Chr2:43889785
LRPPRCnot providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000671514
65.
GRCh37:
Chr2:44116924
GRCh38:
Chr2:43889785
LRPPRCY1359*Leigh syndrome, French Canadian typeUncertain significance
(Nov 7, 2017)
criteria provided, single submitterVCV000554835
66.
GRCh37:
Chr2:44116927
GRCh38:
Chr2:43889788
LRPPRCnot providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV000755923
67.
GRCh37:
Chr2:44116939
GRCh38:
Chr2:43889800
LRPPRCnot providedLikely benign
(Jan 6, 2019)
criteria provided, single submitterVCV000799614
68.
GRCh37:
Chr2:44116941
GRCh38:
Chr2:43889802
LRPPRCnot providedLikely benign
(Jun 13, 2018)
criteria provided, single submitterVCV000747898
69.
GRCh37:
Chr2:44116945
GRCh38:
Chr2:43889806
LRPPRCD1352Enot specified, not providedUncertain significance
(Feb 9, 2016)
criteria provided, multiple submitters, no conflictsVCV000214598
70.
GRCh37:
Chr2:44117002
GRCh38:
Chr2:43889863
LRPPRCnot providedLikely benign
(Dec 26, 2018)
criteria provided, single submitterVCV000793361
71.
GRCh37:
Chr2:44117022
GRCh38:
Chr2:43889884-43889887
LRPPRCLeigh syndrome, French Canadian typeUncertain significance
(Jan 17, 2017)
criteria provided, single submitterVCV000550076
72.
GRCh37:
Chr2:44117024
GRCh38:
Chr2:43889885
LRPPRCnot providedLikely benign
(Dec 19, 2018)
criteria provided, single submitterVCV000798545
73.
GRCh37:
Chr2:44117046
GRCh38:
Chr2:43889907
LRPPRCnot providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000676031
74.
GRCh37:
Chr2:44121666-44121670
GRCh38:
Chr2:43894527-43894531
LRPPRCnot specifiedLikely benign
(Sep 9, 2016)
criteria provided, single submitterVCV000422090
75.
GRCh37:
Chr2:44121676
GRCh38:
Chr2:43894537
LRPPRCnot providedLikely benign
(Oct 15, 2018)
criteria provided, single submitterVCV000755396
76.
GRCh37:
Chr2:44121685
GRCh38:
Chr2:43894546
LRPPRCnot specifiedLikely benign
(Feb 5, 2016)
criteria provided, single submitterVCV000382719
77.
GRCh37:
Chr2:44121700
GRCh38:
Chr2:43894561
LRPPRCnot providedLikely benign
(Oct 22, 2018)
criteria provided, single submitterVCV000793310
78.
GRCh37:
Chr2:44121706
GRCh38:
Chr2:43894567
LRPPRCY1321*not providedPathogenic
(Dec 27, 2013)
criteria provided, single submitterVCV000214597
79.
GRCh37:
Chr2:44121717
GRCh38:
Chr2:43894578
LRPPRCE1318*not providedLikely pathogenic
(Jan 30, 2018)
criteria provided, single submitterVCV000489361
80.
GRCh37:
Chr2:44121760
GRCh38:
Chr2:43894621
LRPPRCnot providedLikely benign
(Jan 18, 2019)
criteria provided, single submitterVCV000763542
81.
GRCh37:
Chr2:44121774
GRCh38:
Chr2:43894635
LRPPRCLeigh syndrome, Leigh syndrome, French Canadian typeUncertain significance
(Sep 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000336145
82.
GRCh37:
Chr2:44121782
GRCh38:
Chr2:43894643
LRPPRCnot specifiedLikely benign
(Apr 25, 2017)
criteria provided, single submitterVCV000516160
83.
GRCh37:
Chr2:44121928
GRCh38:
Chr2:43894789
LRPPRCnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684333
84.
GRCh37:
Chr2:44121943
GRCh38:
Chr2:43894804
LRPPRCnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684331
85.
GRCh37:
Chr2:44123580
GRCh38:
Chr2:43896441
LRPPRCnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000672557
86.
GRCh37:
Chr2:44123758
GRCh38:
Chr2:43896619
LRPPRCLeigh syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000336146
87.
GRCh37:
Chr2:44123759
GRCh38:
Chr2:43896620
LRPPRCLeigh syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000336147
88.
GRCh37:
Chr2:44123772
GRCh38:
Chr2:43896633
LRPPRCLeigh syndrome, French Canadian typePathogenic
(Dec 1, 2015)
no assertion criteria providedVCV000218165
89.
GRCh37:
Chr2:44123803-44123806
GRCh38:
Chr2:43896665-43896667
LRPPRCL1289delLeigh syndrome, French Canadian typeUncertain significance
(Oct 16, 2017)
criteria provided, single submitterVCV000554317
90.
GRCh37:
Chr2:44123818
GRCh38:
Chr2:43896679
LRPPRCnot providedLikely benign
(Dec 22, 2018)
criteria provided, single submitterVCV000730251
91.
GRCh37:
Chr2:44123836
GRCh38:
Chr2:43896697
LRPPRCnot specifiedLikely benign
(Feb 25, 2016)
criteria provided, single submitterVCV000382972
92.
GRCh37:
Chr2:44123861-44123863
GRCh38:
Chr2:43896722-43896724
LRPPRCnot specifiedLikely benign
(Aug 16, 2017)
criteria provided, single submitterVCV000511195
93.
GRCh37:
Chr2:44124055
GRCh38:
Chr2:43896916
LRPPRCnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684328
94.
GRCh37:
Chr2:44126059
GRCh38:
Chr2:43898920
LRPPRCnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000672556
95.
GRCh37:
Chr2:44126343
GRCh38:
Chr2:43899204
LRPPRCnot specifiedBenign
(Mar 25, 2014)
criteria provided, single submitterVCV000138154
96.
GRCh37:
Chr2:44126361
GRCh38:
Chr2:43899222
LRPPRCnot providedLikely benign
(Nov 14, 2018)
criteria provided, single submitterVCV000795273
97.
GRCh37:
Chr2:44126374
GRCh38:
Chr2:43899235
LRPPRCA1270Vnot providedLikely pathogenic
(Dec 24, 2018)
criteria provided, single submitterVCV000214617
98.
GRCh37:
Chr2:44126384
GRCh38:
Chr2:43899246
LRPPRCV1267fsnot providedPathogenic
(Dec 13, 2018)
criteria provided, single submitterVCV000645281
99.
GRCh37:
Chr2:44126391
GRCh38:
Chr2:43899252
LRPPRCnot providedLikely benign
(Dec 22, 2018)
criteria provided, single submitterVCV000797273
100.
GRCh37:
Chr2:44126412
GRCh38:
Chr2:43899273
LRPPRCnot providedLikely benign
(Jun 4, 2018)
criteria provided, single submitterVCV000748280
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