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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
LOC120961743, LOC115945154, VSNL1, DYNC2LI1, LOC122756691, PXDN, LDAH, LOC120961749, LINC01118, TTC32, MRPL33, LOC375196, PRKCE-AS1, LOC122757929, RMDN2-AS1, LOC122756676, LOC122757919, LOC107457596, LOC100506274, LOC106560211, LINC00570, COLEC11, EIPR1, LINC00211, GCKR, LINC01883, LOC115945156, LOC122757944, LOC120961758, LOC122710288, LOC105374389, LOC111556161, MEMO1, OXER1, TDRD15, PRKD3, LOC110121127, MIR8485, LOC122756680, LINC01954, SOCS5, ARHGEF33, LINC01884, LOC105373394, LINC02898, MIR3682, CFAP36, SILC1, LOC122756381, LOC112840927, RASGRP3, LOC112840929, LINC01946, LOC121725084, LOC122757928, NLRC4, LOC122757930, TP53I3, LOC122757933, CGREF1, LINC01126, LOC120961755, LINC00487, SLC8A1, GPN1, ASAP2, MAP4K3, EIF2B4, RAD51AP2, BCYRN1, LOC121725090, LOC102723730, LOC115945155, FAM228B, CIB4, HS1BP3, EML4-AS1, DRC1, LOC105373352, SMC6, LOC122756380, GRHL1, CEBPZ, CYP1B1-AS1, NOL10, CALM2, LOC112840907, SIX3-AS1, LOC112840924, SNTG2-AS1, LOC112841579, CDKL4, RHOQ-AS1, MIR7515, UCN, NBAS, WDCP, LOC115945153, C2orf73, LINC01914, LOC115804259, TOGARAM2, SLC8A1-AS1, RAB10, LOC112806072, LINC01871, LOC108281152, LOC730100, NT5C1B-RDH14, STPG4, GALM, LOC112841605, CYP1B1, LOC110121131, C2orf48, ABCG5, E2F6, CRIPT, LOC115945152, KLHL29, LOC122757937, LOC122756687, HPCAL1, ADGRF3, C1GALT1C1L, ATRAID, SPTBN1, DTNB-AS1, TRIB2, LINC01867, LOC122756393, CYRIA, LOC120961744, NRIR, LINC01318, GALNT14, TMEM18, FAM228A, SNORD53, MIR3125, MIR1301, MIR7158, YIPF4, LOC122757926, LOC122756673, GEMIN6, SIX2, TRAPPC12, PRR30, ADCY3, CAD, QPCT, EFR3B, LOC110121122, FAM166C, LOC120961745, LOC120961754, LINC01939, APOB-ICR, LINC01460, MIR3681, PLB1, ODC1-DT, OTOF, LOC111776219, LOC121725088, LINC01304, LOC121725081, LOC122756375, LINC01381, BIRC6, LOC114004371, PFN4, ATL2, MIR558, LOC122757927, ASB3, GEN1, LINC01119, SNORD53B, LOC120961748, PPP1R21, LOC112806042, LOC122756386, LOC112840921, LOC108167315, TSPYL6, LOC122756675, LOC110120696, MIR4429, KIDINS220, LINC00276, TRIM54, LOC112840931, TTC7A, LINC01250, MSGN1, LOC121725085, GTF3C2, SULT6B1, PPM1B, LOC122756668, LOC101929551, PIGF, RNASEH1-DT, SNORD92, LINC01913, CMPK2, CLHC1, SNX17, C2orf50, KHK, APOB, LOC105374378, LOC120961742, LOC122757938, MIR4263, LOC110120598, LOC122756374, LOC115804260, RHOQ, TCF23, RTN4, RBKS, LINC00954, MIR548BA, TMEM247, LOC122757935, TMEM214, LOC122756377, LOC122756390, LPIN1, SLC30A6, LOC111811968, LOC121725087, KCNF1, ASXL2, ID2-AS1, LINC01865, CAPN13, MIR3681HG, LOC115945150, LOC122756389, NRXN1, MIR7515HG, LINC02580, PTRHD1, LOC115804258, BIRC6-AS2, CAPN14, TPO, LINC00486, KIF3C, MIR4757, LOC114827839, MIR4430, ERLEC1, LINC01875, MIR4261, LOC122756679, CRIM1-DT, LOC110121235, STON1, ALKAL2, LOC115945158, KLF11, LOC122710287, GDF7, SPAST, LOC121725078, EPAS1, LINC01248, LOC122756670, MTIF2, LOC120961750, UBXN2A, KRTCAP3, LOC110599580, LHCGR, MIR548S, SLC30A3, LOC122756669, LINC01820, GPATCH11, LOC106728414, RNASEH1, EML6, LOC122757921, LOC112840925, LBH, MPV17, YWHAQ, ACYP2, RNF144A, LOC114004372, LOC112840938, LINC01822, LOC122757924, COX7A2L, EML6-AS1, MIR4431, LINC01794, ATP6V1E2, GTF2A1L, LOC101929882, ID2, WDR35-DT, FNDC4, LOC400940, PPM1G, LOC122757916, SOS1-IT1, LOC122757940, LOC110121085, MYCNUT, LOC122756376, LOC112841580, SLC5A6, ZFP36L2, ROCK2, LOC122756387, MSH2-OT1, LINC01317, OST4, LOC110121045, DNAJC27, LOC110121308, LOC122757922, LOC112840937, LOC122757936, LOC115945151, HADHA, LOC112840917, MYT1L-AS1, LOC120961751, GPR75-ASB3, LOC112840930, FOSL2, LOC115804257, LOC114004370, DCDC2C, SRD5A2, KCNK12, MBOAT2, CAMKMT, PRKCE, FKBP1B, SNORA80B, GPR75, THUMPD2, EMILIN1, CCDC88A, CENPO, HEATR5B, PLEKHH2, LOC122757939, LOC122756677, LOC122757941, SDC1, IFT172, LINC01874, LOC122756685, LOC121725083, LOC112840923, C2orf16, GREB1, SELENOI, ITSN2, LOC100506474, LINC01246, SRBD1, RRM2, MAPRE3, PCARE, LOC100505736, CRIM1, LOC120961756, FBXO11, MSH6, RMDN2, MFSD2B, HNRNPLL, LOC122756678, LOC122756684, NRBP1, NTSR2, LOC122756384, LRPPRC, LINC01936, WDR43, VIT, LINC02583, ABCG8, SLC4A1AP, LOC110121071, LOC121725082, XDH, LOC122757945, EPCAM-DT, ZNF512, LOC112840940, ALK, LOC112841600, LOC122756683, LINC01115, MAPRE3-AS1, RHOB, LINC00298, DPY30, KCNG3, ADAM17, MCFD2, FSHR, LINC01814, DNMT3A, LOC100505716, LOC122756392, TRMT61B, PREPL, LOC122756379, TMEM178A, STON1-GTF2A1L, LOC112840941, LOC115945149, PSME4, MAP4K3-DT, PDIA6, LOC112840939, EPCAM, PPP4R3B, LOC114827832, MYCNOS, ATP6V1C2, LINC01808, ATAD2B, LOC121725089, ITGB1BP1, CHAC2, LOC121725079, HAAO, PUM2, MATN3, LINC01830, LOC112840935, LOC115945157, DDX1, LOC112840936, LOC111776220, LOC122756667, LOC122756373, BABAM2-AS1, FOSL2-AS1, LOC115804261, LINC02613, LOC112840932, POMC, SF3B6, PREB, LINC01833, LOC122756383, LOC122756385, LOC122756671, TAF1B, SOS1, MYCN, MSH2, LOC122756689, LOC112840942, GTF3C2-AS2, LAPTM4A, LOC122757925, YPEL5, MORN2, KCNS3, LOC107985837, CYS1, LOC122757918, LINC00299, ACP1, SOX11, DNAJC27-AS1, SNORA10B, ADI1, GRASLND, BABAM2, MIR4262, HS1BP3-IT1, LOC122757932, LOC100271832, MYT1L, LOC100996637, SH3YL1, STRN, CLIP4, LOC122756682, WDR35, GAREM2, LOC121725077, LOC107985792, CPSF3, LOC122756371, CEBPZOS, RPS7, LOC122757943, LOC120961747, ABHD1, LOC122756372, LOC122756690, FOXN2, LOC122756378, FAM98A, ZNF513, LINC01247, LOC111465020, ALLC, LOC120961741, MIR4765, LOC111828513, LOC120961746, TRY-GTA2-1, EHD3, SPTBN1-AS1, DPYSL5, LOC122757920, SLC66A3, MIR548AD, LOC100505774, MTA3, RASGRP3-AS1, RPS27A, GTF3C2-AS1, SNTG2, LINC01121, TRI-TAT2-1, LOC115945147, CDC42EP3, LOC101929452, SIX3, LINC01320, OSR1, LOC122756686, LOC122756388, DTNB, DHX57, LTBP1, LOC110120665, LOC122710289, LOC122756681, TMEM18-DT, LINC01810, APOB3'MAR, LOC110121222, LINC01249, LOC653602, RDH14, LOC120961753, SPDYA, LINC02850, LINC01819, LOC122757931, FEZ2, LOC122710286, LOC122756672, LOC112840916, LOC122757923, NT5C1B, LAPTM4A-DT, PRKD3-DT, LINC01804, LRATD1, LINC02923, HADHB, LOC122756674, LOC107985856, LOC122757917, EIF2AK2, SLC35F6, LOC112840922, AGBL5-AS1, SRSF7, ODC1, KCNK3, LOC121725080, SLC3A1, CCDC121, LOC120961752, LOC122757934, LINC01376, TRA-AGC8-1, THADA, IAH1, LOC112841604, LOC122756382, PPP1CB, DNAJC5G, EML4, PKDCC, MIR559, AGBL5, LOC121725086, GACAT3, NDUFAF7, NCOA1, LCLAT1, LOC120961757, TTC27, CENPA, LOC122756688, LOC122757942, LOC122756391, LOC112840926, LOC112840943, SUPT7L, RSAD2, FLJ33534
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059133
2.
GRCh37:
Chr2:236816-46210371
GRCh38:
Chr2:236816-45983232
ID2, ID2-AS1, IFT172, ITGB1BP1, ITSN2, KCNF1, KCNG3, KCNK3, KCNS3, KHK, KIDINS220, KIF3C, KLF11, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LCLAT1, LDAH, LINC00211, LINC00276, LINC00298, LINC00299, LINC00486, LINC00487, LINC00570, LINC00954, LINC01115, LINC01121, LINC01126, LINC01246, LINC01247, LINC01248, LINC01249, LINC01250, LINC01304, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01794, LINC01804, LINC01808, LINC01810, LINC01814, LINC01819, LINC01822, LINC01830, LINC01833, LINC01865, LINC01871, LINC01874, LINC01875, LINC01883, LINC01884, LINC01913, LINC01914, LINC01936, LINC01939, LINC01946, LINC01954, LINC02580, LINC02613, LINC02850, LINC02898, LINC02923, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506274, LOC100506474, LOC100996637, LOC101929452, LOC101929551, LOC101929882, LOC102723730, LOC105373352, LOC105373394, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, LOC107985837, LOC107985856, LOC108167315, LOC108281152, 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, LOC120961741, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC121725077, LOC121725078, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC122710286, LOC122710287, LOC122710288, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC375196, LOC400940, LOC653602, LPIN1, LRATD1, LRPPRC, LTBP1, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MATN3, MBOAT2, MEMO1, MFSD2B, MIR1301, MIR3125, MIR3681, MIR3681HG, MIR4261, MIR4262, MIR4263, MIR4429, MIR4430, MIR4757, MIR4765, MIR548AD, MIR548S, MIR558, MIR7158, MIR7515, MIR7515HG, MORN2, MPV17, MRPL33, MSGN1, MTA3, MYCN, MYCNOS, MYCNUT, MYT1L, MYT1L-AS1, NBAS, NCOA1, NDUFAF7, NLRC4, NOL10, NRBP1, NRIR, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OXER1, PCARE, PDIA6, PFN4, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1G, PPP1CB, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PRR30, PTRHD1, PUM2, PXDN, QPCT, RAB10, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, RHOB, RMDN2, RMDN2-AS1, RNASEH1, RNASEH1-DT, RNF144A, ROCK2, RPS7, RRM2, RSAD2, SDC1, SELENOI, SF3B6, SH3YL1, SILC1, SIX2, SIX3, SIX3-AS1, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SNORA10B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNTG2, SNTG2-AS1, SNX17, SOS1, SOS1-IT1, SOX11, SPAST, SPDYA, SRBD1, SRD5A2, SRSF7, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TTC27, TTC32, UBXN2A, UCN, VIT, VSNL1, WDCP, WDR35, WDR35-DT, WDR43, XDH, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ABCG5, ABCG8, ABHD1, ACP1, ADAM17, ADCY3, ADGRF3, ADI1, AGBL5, AGBL5-AS1, ALK, ALKAL2, ALLC, APOB, APOB-ICR, APOB3'MAR, ARHGEF33, ASAP2, ASXL2, ATAD2B, ATL2, ATP6V1C2, ATRAID, BABAM2, BABAM2-AS1, BIRC6, BIRC6-AS2, C1GALT1C1L, C2orf16, C2orf48, C2orf50, CAD, CAMKMT, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CGREF1, CIB4, CLIP4, CMPK2, COLEC11, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CYP1B1, CYP1B1-AS1, CYRIA, CYS1, DCDC2C, DDX1, DHX57, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, DTNB-AS1, DYNC2LI1, E2F6, EFR3B, EHD3, EIF2AK2, EIF2B4, EIPR1, EMILIN1, EML4, EML4-AS1, FAM166C, FAM228A, FAM228B, FAM98A, FEZ2, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, GACAT3, GALM, GALNT14, GAREM2, GCKR, GDF7, GEMIN6, GEN1, GPATCH11, GPN1, GRASLND, GREB1, GRHL1, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, IAH1
See casesPathogenic
(Nov 19, 2013)
no assertion criteria providedVCV000155615
3.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR2, ACYP2, ADAM17, ADCY3, ADD2, ADGRF3, AFTPH, AFTPH-DT, AGBL5, AGBL5-AS1, ALK, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, APOB, APOB-ICR, APOB3'MAR, ARHGAP25, ARHGEF33, ASAP2, ASB3, ASPRV1, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1B1-AS1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BABAM2-AS1, BCL11A, BCYRN1, BIRC6, BIRC6-AS2, BMP10, BOLA3, BOLA3-DT, C1D, C1GALT1C1L, C2orf16, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-DT, C2orf78, C2orf81, CAD, CALM2, CAMKMT, CAPG, CAPN13, CAPN14, CCDC121, CCDC142, CCDC85A, CCDC88A, CCT4, CCT7, CD207, CD8A, CD8B, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CEP68, CFAP36, CGREF1, CHAC2, CHMP3, CHMP3-AS1, CIB4, CLEC4F, CLHC1, CLIP4, CNRIP1, COMMD1, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CTNNA2, CTNNA2-AS1, CYP1B1, CYP1B1-AS1, CYP26B1, CYRIA, CYS1, CYTOR, DCTN1, DCTN1-AS1, DDX1, DGUOK, DGUOK-AS1, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTNB-AS1, DUSP11, DYNC2LI1, DYSF, E2F6, EFEMP1, EFR3B, EGR4, EHBP1, EHBP1-AS1, EHD3, EIF2AK2, EIF2B4, ELMOD3, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EMX1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM166C, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, LINC00211, LINC00276, LINC00298, LINC00299, LINC00309, LINC00486, LINC00570, LINC00954, LINC01118, LINC01119, LINC01121, LINC01122, LINC01126, LINC01143, LINC01291, LINC01293, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01628, LINC01793, LINC01794, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01804, LINC01805, LINC01808, LINC01809, LINC01812, LINC01813, LINC01814, LINC01815, LINC01816, LINC01819, LINC01820, LINC01822, LINC01828, LINC01829, LINC01830, LINC01833, LINC01851, LINC01867, LINC01871, LINC01873, LINC01883, LINC01884, LINC01890, LINC01913, LINC01914, LINC01936, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506474, LOC100507006, LOC101927661, LOC101927948, LOC101927967, LOC101929551, LOC101929882, LOC102724579, LOC105374378, LOC105374389, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, LOC107985770, LOC107985792, LOC107985856, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, 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, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC120961768, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC121725091, LOC121725092, LOC121725093, LOC121725094, LOC121725095, LOC121725096, LOC121725097, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC122757948, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC122757957, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC122757966, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC122787135, LOC122787136, LOC122787137, LOC122787138, LOC122787139, LOC122787140, LOC122787141, LOC122787142, LOC122787143, LOC122787144, LOC122787145, LOC122787146, LOC122787147, LOC122787148, LOC284950, LOC375196, LOC653602, LOC730100, LOC90784, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ZNF638, ZNF638-IT1
See casesBenign
(Feb 4, 2013)
no assertion criteria providedVCV000152995
4.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
LOC112841580, LOC122757943, CRIPT, EML6-AS1, MIR216A, LINC01119, LOC112840940, LOC122757938, LINC01819, FBXO11, NRXN1, EPCAM-DT, MIR3682, LOC122757928, LOC122757946, LOC110121235, LOC120961752, KCNK12, LOC115945158, CAMKMT, LINC01813, C2orf73, LOC122757924, LOC122757939, CLHC1, LOC122757944, LINC01126, LOC114827839, ERLEC1, LOC122757933, LOC122757945, MSH2-OT1, STON1, LINC01867, PSME4, LOC122757947, CCDC88A, LOC120961756, MCFD2, MIR4431, PREPL, LOC115945156, PKDCC, PLEKHH2, STPG4, MTA3, MIR548BA, KCNG3, CFAP36, LOC122757926, LOC120961751, LOC120961759, ASB3, LOC122757940, EML4, EPCAM, LOC112840932, MIR217, CCDC85A, LOC112840942, LINC01121, LOC120961758, TRI-TAT2-1, LINC01913, LRPPRC, LOC120961755, EML4-AS1, LINC02898, MSH2, ABCG5, OXER1, LINC01118, LOC115945157, LOC120961757, FOXN2, LOC122757923, BCYRN1, COX7A2L, LINC01820, RTN4, TTC7A, LOC122757935, LINC02580, LINC01794, LOC122757932, MIR216B, LOC112840937, GPR75-ASB3, LOC122757937, PNPT1, LOC122757936, PPM1B, LOC112840938, LOC114004372, THADA, MTIF2, LOC120961754, PIGF, LOC120961748, ZFP36L2, TMEM247, LOC111776220, ABCG8, RHOQ, PPP4R3B, LOC122757934, MIR559, LOC112840939, LOC122757942, MIR217HG, LOC121725089, RHOQ-AS1, LINC02583, LOC121725090, LOC112840943, LOC122757941, SPTBN1-AS1, TSPYL6, LINC01914, SPTBN1, LOC120961753, PRKCE, LOC112840941, LOC111776219, LOC110120696, SIX3-AS1, ACYP2, EPAS1, RPS27A, ATP6V1E2, CALM2, SLC3A1, C1GALT1C1L, LOC110121222, GTF2A1L, DYNC2LI1, LHCGR, LOC730100, LOC120961750, HAAO, LOC122757931, MSH6, LOC122757927, PPP1R21, GPR75, CHAC2, LOC112840935, SOCS5, LOC120961749, LOC122757929, MIR8485, LOC122757925, SRBD1, LOC122757930, LOC115945155, STON1-GTF2A1L, LOC112840936, EML6, SIX2, LOC112841579, LOC114827832, FSHR, EFEMP1, LOC110120598, LINC01833, LOC111465020, PRKCE-AS1, LOC122757922, LOC100129434, SIX3, LOC110121071
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
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336097
8.
GRCh37:
Chr2:44113450
GRCh38:
Chr2:43886311
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896666
9.
GRCh37:
Chr2:44113462
GRCh38:
Chr2:43886323
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336098
10.
GRCh37:
Chr2:44113494
GRCh38:
Chr2:43886355
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336099
11.
GRCh37:
Chr2:44113509
GRCh38:
Chr2:43886370
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896667
12.
GRCh37:
Chr2:44113515
GRCh38:
Chr2:43886376
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896668
13.
GRCh37:
Chr2:44113547
GRCh38:
Chr2:43886408
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896669
14.
GRCh37:
Chr2:44113563
GRCh38:
Chr2:43886424
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000336100
15.
GRCh37:
Chr2:44113582
GRCh38:
Chr2:43886443
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897129
16.
GRCh37:
Chr2:44113640
GRCh38:
Chr2:43886501
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336101
17.
GRCh37:
Chr2:44113690-44113691
GRCh38:
Chr2:43886551-43886552
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336102
18.
GRCh37:
Chr2:44113697
GRCh38:
Chr2:43886558
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897130
19.
GRCh37:
Chr2:44113698
GRCh38:
Chr2:43886559
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336104
20.
GRCh37:
Chr2:44113698
GRCh38:
Chr2:43886559
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000336103
21.
GRCh37:
Chr2:44113758
GRCh38:
Chr2:43886619
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336105
22.
GRCh37:
Chr2:44113778
GRCh38:
Chr2:43886639
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000336106
23.
GRCh37:
Chr2:44113828
GRCh38:
Chr2:43886689
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336107
24.
GRCh37:
Chr2:44113844
GRCh38:
Chr2:43886705
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000898291
25.
GRCh37:
Chr2:44113844
GRCh38:
Chr2:43886705
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336108
26.
GRCh37:
Chr2:44113845
GRCh38:
Chr2:43886706
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898292
27.
GRCh37:
Chr2:44113867
GRCh38:
Chr2:43886728
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336109
28.
GRCh37:
Chr2:44113923
GRCh38:
Chr2:43886784
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336110
29.
GRCh37:
Chr2:44113933
GRCh38:
Chr2:43886794
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336111
30.
GRCh37:
Chr2:44113987
GRCh38:
Chr2:43886848
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898293
31.
GRCh37:
Chr2:44114020
GRCh38:
Chr2:43886881
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895300
32.
GRCh37:
Chr2:44114022
GRCh38:
Chr2:43886883
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895301
33.
GRCh37:
Chr2:44114050
GRCh38:
Chr2:43886911
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895302
34.
GRCh37:
Chr2:44114054
GRCh38:
Chr2:43886915
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895303
35.
GRCh37:
Chr2:44114055
GRCh38:
Chr2:43886916
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895304
36.
GRCh37:
Chr2:44114074
GRCh38:
Chr2:43886935
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336113
37.
GRCh37:
Chr2:44114074
GRCh38:
Chr2:43886935
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000336112
38.
GRCh37:
Chr2:44114086
GRCh38:
Chr2:43886947
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336115
39.
GRCh37:
Chr2:44114086
GRCh38:
Chr2:43886947
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336114
40.
GRCh37:
Chr2:44114087
GRCh38:
Chr2:43886948
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896724
41.
GRCh37:
Chr2:44114152
GRCh38:
Chr2:43887013
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336116
42.
GRCh37:
Chr2:44114155
GRCh38:
Chr2:43887016
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336117
43.
GRCh37:
Chr2:44114175
GRCh38:
Chr2:43887036
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000336118
44.
GRCh37:
Chr2:44114176
GRCh38:
Chr2:43887037
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336119
45.
GRCh37:
Chr2:44114241
GRCh38:
Chr2:43887102
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336120
46.
GRCh37:
Chr2:44114281
GRCh38:
Chr2:43887142
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897193
47.
GRCh37:
Chr2:44114282-44114283
GRCh38:
Chr2:43887143-43887144
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336122
48.
GRCh37:
Chr2:44114282-44114283
GRCh38:
Chr2:43887143-43887144
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336121
49.
GRCh37:
Chr2:44114304
GRCh38:
Chr2:43887165
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897194
50.
GRCh37:
Chr2:44114304
GRCh38:
Chr2:43887165
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336123
51.
GRCh37:
Chr2:44114348-44114349
GRCh38:
Chr2:43887209-43887210
LRPPRCLeigh syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000336124
52.
GRCh37:
Chr2:44114367
GRCh38:
Chr2:43887228
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897195
53.
GRCh37:
Chr2:44114368
GRCh38:
Chr2:43887229
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000336125
54.
GRCh37:
Chr2:44114369
GRCh38:
Chr2:43887230
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897196
55.
GRCh37:
Chr2:44114384
GRCh38:
Chr2:43887245
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897197
56.
GRCh37:
Chr2:44114396
GRCh38:
Chr2:43887257
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000336126
57.
GRCh37:
Chr2:44114404
GRCh38:
Chr2:43887265
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000336127
58.
GRCh37:
Chr2:44114587
GRCh38:
Chr2:43887448
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336128
59.
GRCh37:
Chr2:44114618
GRCh38:
Chr2:43887479
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336129
60.
GRCh37:
Chr2:44114651
GRCh38:
Chr2:43887512
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000336130
61.
GRCh37:
Chr2:44114743
GRCh38:
Chr2:43887604
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898367
62.
GRCh37:
Chr2:44114914
GRCh38:
Chr2:43887775
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000336131
63.
GRCh37:
Chr2:44115004
GRCh38:
Chr2:43887865
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000898368
64.
GRCh37:
Chr2:44115005
GRCh38:
Chr2:43887866
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Apr 27, 2017)
criteria provided, single submitterVCV000898369
65.
GRCh37:
Chr2:44115072
GRCh38:
Chr2:43887933
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336132
66.
GRCh37:
Chr2:44115092
GRCh38:
Chr2:43887953
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336133
67.
GRCh37:
Chr2:44115149
GRCh38:
Chr2:43888010
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336134
68.
GRCh37:
Chr2:44115152
GRCh38:
Chr2:43888013
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895385
69.
GRCh37:
Chr2:44115162
GRCh38:
Chr2:43888023
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336135
70.
GRCh37:
Chr2:44115183
GRCh38:
Chr2:43888044
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000336136
71.
GRCh37:
Chr2:44115205
GRCh38:
Chr2:43888066
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336137
72.
GRCh37:
Chr2:44115221
GRCh38:
Chr2:43888082
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895386
73.
GRCh37:
Chr2:44115254
GRCh38:
Chr2:43888115
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336138
74.
GRCh37:
Chr2:44115283
GRCh38:
Chr2:43888144
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336139
75.
GRCh37:
Chr2:44115319
GRCh38:
Chr2:43888180
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896784
76.
GRCh37:
Chr2:44115330
GRCh38:
Chr2:43888191
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336140
77.
GRCh37:
Chr2:44115340
GRCh38:
Chr2:43888201
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336141
78.
GRCh37:
Chr2:44115396
GRCh38:
Chr2:43888257
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000336142
79.
GRCh37:
Chr2:44115521
GRCh38:
Chr2:43888382
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896785
80.
GRCh37:
Chr2:44115629
GRCh38:
Chr2:43888490
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896786
81.
GRCh37:
Chr2:44115741-44115742
GRCh38:
Chr2:43888602-43888603
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Feb 16, 2017)
criteria provided, single submitterVCV000550769
82.
GRCh37:
Chr2:44115744
GRCh38:
Chr2:43888605
LRPPRCS1394Anot providedLikely benign
(Mar 3, 2015)
criteria provided, single submitterVCV001209202
83.
GRCh37:
Chr2:44115747
GRCh38:
Chr2:43888608
LRPPRCS1393ACongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336143
84.
GRCh37:
Chr2:44115759
GRCh38:
Chr2:43888620
LRPPRCnot providedLikely benign
(May 31, 2019)
criteria provided, single submitterVCV001113547
85.
GRCh37:
Chr2:44115768
GRCh38:
Chr2:43888629
LRPPRCnot providedLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV001133585
86.
GRCh37:
Chr2:44115768
GRCh38:
Chr2:43888629
LRPPRCL1386VCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000336144
87.
GRCh37:
Chr2:44115792
GRCh38:
Chr2:43888653
LRPPRCS1378Gnot provided, not specified, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Conflicting interpretations of pathogenicity
(Mar 11, 2021)
criteria provided, conflicting interpretationsVCV000214599
88.
GRCh37:
Chr2:44115801-44115803
GRCh38:
Chr2:43888662-43888664
LRPPRCnot providedLikely benign
(Mar 9, 2020)
criteria provided, single submitterVCV001129660
89.
GRCh37:
Chr2:44115803
GRCh38:
Chr2:43888664
LRPPRCnot specified, not providedLikely benign
(Jun 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000515102
90.
GRCh37:
Chr2:44115804
GRCh38:
Chr2:43888665
LRPPRCnot providedLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001085487
91.
GRCh37:
Chr2:44116041-44116042
GRCh38:
Chr2:43888902-43888903
LRPPRCnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001268467
92.
GRCh37:
Chr2:44116100
GRCh38:
Chr2:43888961
LRPPRCnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000684334
93.
GRCh37:
Chr2:44116707-44116708
GRCh38:
Chr2:43889568-43889569
LRPPRCnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV001186983
94.
GRCh37:
Chr2:44116836
GRCh38:
Chr2:43889697
LRPPRCnot provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeBenign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV001184763
95.
GRCh37:
Chr2:44116871
GRCh38:
Chr2:43889732
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeLikely pathogenic
(Apr 7, 2017)
criteria provided, single submitterVCV000551420
96.
GRCh37:
Chr2:44116872-44116873
GRCh38:
Chr2:43889733-43889734
LRPPRCE1377*Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000553013
97.
GRCh37:
Chr2:44116872
GRCh38:
Chr2:43889733
LRPPRCCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeLikely pathogenic
(Apr 17, 2017)
criteria provided, single submitterVCV000551554
98.
GRCh37:
Chr2:44116873
GRCh38:
Chr2:43889734
LRPPRCE1377fsnot provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, not specified
Conflicting interpretations of pathogenicity
(Aug 19, 2021)
criteria provided, conflicting interpretationsVCV000225408
99.
GRCh37:
Chr2:44116903
GRCh38:
Chr2:43889764
LRPPRCnot providedLikely benign
(Apr 1, 2019)
criteria provided, single submitterVCV001090446
100.
GRCh37:
Chr2:44116923
GRCh38:
Chr2:43889784
LRPPRCA1360SInborn genetic diseases, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeUncertain significance
(Jul 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000985865
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