| - GRCh37:
- Chr2:66097-55797773
- GRCh38:
- Chr2:66097-55570637
| LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC126264115, LOC126806091, LOC126806092, LOC126806093, LOC126806094, LOC126806095, LOC126806096, LOC126806097, LOC126806098, LOC126806099, LOC126806100, LOC126806101, LOC126806102, LOC126806103, LOC126806104, LOC126806105, LOC126806106, LOC126806107, LOC126806108, LOC126806109, LOC126806110, LOC126806111, LOC126806112, LOC126806113, LOC126806114, LOC126806115, LOC126806116, LOC126806117, LOC126806118, LOC126806119, LOC126806120, LOC126806121, LOC126806122, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, LOC375196, LOC400940, LOC653602, LPIN1, LRATD1, LRPPRC, LTBP1, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MATN3, MBOAT2, MCFD2, MEMO1, MFSD2B, MIR1301, MIR3125, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4429, MIR4430, MIR4431, MIR4757, MIR4765, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR7158, MIR7515, MIR7515HG, MIR8485, MORN2, MPV17, MRPL33, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, MYCN, MYCNOS, MYCNUT, NOL10, MYT1L, MYT1L-AS1, NBAS, NCOA1, NDUFAF7, NLRC4, NRBP1, NRIR, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OXER1, PCARE, PDIA6, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP4R3B, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PRR30, PSME4, PTRHD1, PUM2, PXDN, QPCT, RAB10, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RNASEH1, RNASEH1-DT, RNF144A, ROCK2, RPS27A, RPS7, RRM2, RSAD2, RTN4, 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, SOCS5, SOS1, SOS1-IT1, SOX11, SPAST, SPATA31H1, SPDYA, SPTBN1, SPTBN1-AS1, SRBD1, SRD5A2, SRSF7, STON1, STON1-GTF2A1L, STPG4, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TMEM247, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, TRAPPC12-AS1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC32, TTC7A, UBXN2A, UCN, VIT, VSNL1, WDCP, WDR35, WDR35-DT, WDR43, XDH, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ABCG5, ABCG8, ABHD1, ACP1, ACYP2, ADAM17, ADCY3, ADGRF3, ADI1, AGBL5, AGBL5-AS1, ALK, ALKAL2, ALLC, APOB, APOB-ICR, APOB3'MAR, ARHGEF33, ASAP2, ASB3, ASXL2, ATAD2B, ATL2, ATP6V1C2, ATP6V1E2, ATRAID, BABAM2, BABAM2-AS1, BCYRN1, BIRC6, BIRC6-AS2, C1GALT1C1L, C2orf48, C2orf50, C2orf73, CAD, CALM2, CAMKMT, CAPN13, CAPN14, CCDC121, CCDC88A, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CFAP36, CGREF1, CHAC2, CIB4, CIMIP2C, CLHC1, CLIP4, CMPK2, COLEC11, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, 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, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FAM228A, FAM228B, FAM98A, FBXO11, FEZ2, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCKR, GDF7, GEMIN6, GEN1, GPATCH11, GPN1, GPR75, GPR75-ASB3, GRASLND, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, IAH1, ID2, ID2-AS1, IFT172, ITGB1BP1, ITSN2, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LCLAT1, LDAH, LHCGR, LINC00276, LINC00298, LINC00299, LINC00486, LINC00487, LINC00570, LINC00954, LINC01115, LINC01118, LINC01119, LINC01121, LINC01126, LINC01246, LINC01247, LINC01248, LINC01249, LINC01250, LINC01304, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01794, LINC01804, LINC01808, LINC01810, LINC01814, LINC01819, LINC01820, LINC01822, LINC01830, LINC01833, LINC01865, LINC01867, LINC01871, LINC01874, LINC01875, LINC01883, LINC01884, LINC01913, LINC01914, LINC01936, LINC01939, LINC01946, LINC01954, LINC02580, LINC02583, LINC02613, LINC02850, LINC02898, LINC02923, LINC03063, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506274, LOC100506405, LOC100506474, LOC100996637, LOC101928196, LOC101929452, LOC101929551, LOC101929752, LOC102723530, LOC102723730, LOC105369165, LOC105373352, LOC105373390, LOC105373394, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, LOC107985856, LOC108167315, LOC108281152, 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, LOC120961741, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:236816-46210371
- GRCh38:
- Chr2:236816-45983232
| 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, C2orf48, C2orf50, CAD, CAMKMT, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CGREF1, CIB4, CIMIP2C, 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, 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, ID2, ID2-AS1, IFT172, ITGB1BP1, ITSN2, KCNF1, KCNG3, KCNK3, KCNS3, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LCLAT1, LDAH, 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, LINC03063, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506274, LOC100506405, LOC100506474, LOC100996637, LOC101928196, LOC101929452, LOC101929551, LOC101929752, LOC102723530, LOC102723730, LOC105373352, LOC105373390, LOC105373394, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, 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, LOC126264115, LOC126806093, LOC126806094, LOC126806095, LOC126806096, LOC126806097, LOC126806098, LOC126806099, LOC126806100, LOC126806101, LOC126806102, LOC126806103, LOC126806104, LOC126806105, LOC126806106, LOC126806107, LOC126806108, LOC126806109, LOC126806110, LOC126806111, LOC126806112, LOC126806113, LOC126806114, LOC126806115, LOC126806116, LOC126806117, LOC126806118, LOC126806119, LOC126806120, LOC126806121, LOC126806122, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, 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, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1B-DT, 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, SPATA31H1, SPDYA, SRBD1, SRD5A2, SRSF7, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, TRAPPC12-AS1, 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 | | See cases | Pathogenic (Nov 19, 2013) | no assertion criteria provided |
| - 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, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-AS1, 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, CIMIP2C, 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, 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, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, 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, LINC01888, LINC01890, LINC01913, LINC01914, LINC01936, LINC01943, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LINC03050, LINC03063, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506405, LOC100506474, LOC100507006, LOC101927661, LOC101927723, LOC101927948, LOC101927967, LOC101928196, LOC101929551, LOC101929752, LOC102723530, LOC102724542, LOC102724579, LOC105369165, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC105374769, LOC105374780, LOC105374809, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, 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, LOC126264115, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC126806229, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC126806244, LOC126806245, LOC126806246, LOC126806247, LOC126806248, LOC126806249, LOC126806250, LOC126806251, LOC126806252, LOC126806253, LOC126806254, LOC126806255, LOC126806256, LOC126806257, LOC126806258, LOC126806259, LOC126806260, LOC126806261, LOC126806262, LOC126806263, LOC126806264, LOC126806265, LOC126806266, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, LOC284950, LOC375196, LOC653602, 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, NRXN1-DT, 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, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PPP4R3B-DT, 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, SMANTIS, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPATA31H1, 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 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:40965422-58090956
- GRCh38:
- Chr2:40738282-57863821
| ABCG5, ABCG8, ACYP2, ASB3, ATP6V1E2, BCYRN1, C1GALT1C1L, C2orf73, CALM2, CAMKMT, CCDC85A, CCDC88A, CFAP36, CHAC2, CLHC1, COX7A2L, CRIPT, DYNC2LI1, EFEMP1, EML4, EML4-AS1, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FBXO11, FOXN2, FSHR, GPR75, GPR75-ASB3, GTF2A1L, HAAO, KCNG3, KCNK12, LHCGR, LINC01118, LINC01119, LINC01121, LINC01126, LINC01794, LINC01813, LINC01819, LINC01820, LINC01833, LINC01867, LINC01913, LINC01914, LINC02580, LINC02583, LINC02898, LOC100129434, LOC100506235, LOC105369165, LOC110120598, LOC110120696, LOC110121071, LOC110121222, LOC110121235, LOC111465020, LOC111776219, LOC111776220, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC114004372, LOC114827832, LOC114827839, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC121725089, LOC121725090, 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, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LRPPRC, MCFD2, MIR216A, MIR216B, MIR217, MIR217HG, MIR3682, MIR4431, MIR548BA, MIR559, MIR8485, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, NRXN1, NRXN1-DT, OXER1, PIGF, PKDCC, PLEKHH2, PNPT1, PPM1B, PPM1B-DT, PPP1R21, PPP4R3B, PPP4R3B-DT, PREPL, PRKCE, PRKCE-AS1, PSME4, RHOQ, RHOQ-AS1, RPS27A, RTN4, SIX2, SIX3, SIX3-AS1, SLC3A1, SOCS5, SPTBN1, SPTBN1-AS1, SRBD1, STON1, STON1-GTF2A1L, STPG4, THADA, TMEM247, TRI-TAT2-1, TSPYL6, TTC7A, ZFP36L2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43903949-45243200
- GRCh38:
- Chr2:43676810-45016061
| ABCG5, ABCG8, CAMKMT, DYNC2LI1, LINC01833, LOC110120598, LOC110120696, LOC121725090, LOC122757929, LOC122757930, LOC126806204, LRPPRC, PLEKHH2, PPM1B, PPM1B-DT, PREPL, SIX2, SIX3, SIX3-AS1, SLC3A1 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:43989514-45187428
- GRCh38:
- Chr2:43762375-44960289
| ABCG5, ABCG8, CAMKMT, DYNC2LI1, LINC01833, LOC110120598, LOC110120696, LOC121725090, LOC122757929, LOC122757930, LOC126806204, LRPPRC, PLEKHH2, PPM1B, PPM1B-DT, PREPL, SIX3, SIX3-AS1, SLC3A1 | | See cases | Uncertain significance (Jan 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:44036689
- GRCh38:
- Chr2:43809550
| ABCG5, DYNC2LI1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036800
- GRCh38:
- Chr2:43809661
| ABCG5, DYNC2LI1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036825
- GRCh38:
- Chr2:43809686
| DYNC2LI1, ABCG5 | | not provided | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036850
- GRCh38:
- Chr2:43809711
| ABCG5, DYNC2LI1 | E334*, E335* | Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly | Pathogenic (Jun 16, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr2:44036866
- GRCh38:
- Chr2:43809727
| ABCG5, DYNC2LI1 | S340N, S339N | not provided, Inborn genetic diseases | Uncertain significance (May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44036890
- GRCh38:
- Chr2:43809751
| ABCG5, DYNC2LI1 | I347N, I348N | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036891
- GRCh38:
- Chr2:43809752
| DYNC2LI1, ABCG5 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036892
- GRCh38:
- Chr2:43809753
| ABCG5, DYNC2LI1 | E349K, E348K | Inborn genetic diseases | Uncertain significance (Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036892
- GRCh38:
- Chr2:43809753
| ABCG5, DYNC2LI1 | E349Q, E348Q | not provided | Benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036913
- GRCh38:
- Chr2:43809774
| ABCG5, DYNC2LI1 | | not provided | Benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44036922
- GRCh38:
- Chr2:43809783
| ABCG5, DYNC2LI1 | | not provided | Benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44037047
- GRCh38:
- Chr2:43809908
| ABCG5, DYNC2LI1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039633
- GRCh38:
- Chr2:43812494
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039634
- GRCh38:
- Chr2:43812495
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039663
- GRCh38:
- Chr2:43812524
| DYNC2LI1, ABCG5 | | Sitosterolemia 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039720
- GRCh38:
- Chr2:43812581
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039733
- GRCh38:
- Chr2:43812594
| DYNC2LI1, ABCG5 | | Sitosterolemia 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039744
- GRCh38:
- Chr2:43812605
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039839
- GRCh38:
- Chr2:43812700
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039856
- GRCh38:
- Chr2:43812717
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039875
- GRCh38:
- Chr2:43812736
| DYNC2LI1, ABCG5 | | Sitosterolemia 1, not provided | Benign (Apr 19, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44039897-44039898
- GRCh38:
- Chr2:43812758-43812759
| ABCG5, DYNC2LI1 | | Sitosterolemia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039903
- GRCh38:
- Chr2:43812764
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44039970
- GRCh38:
- Chr2:43812831
| DYNC2LI1, ABCG5 | | not provided, Sitosterolemia 1 | Conflicting interpretations of pathogenicity (Jul 10, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44040030
- GRCh38:
- Chr2:43812891
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040102
- GRCh38:
- Chr2:43812963
| ABCG5, DYNC2LI1 | | Sitosterolemia 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040183
- GRCh38:
- Chr2:43813044
| ABCG5, DYNC2LI1 | | not provided | Likely benign (Oct 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040259
- GRCh38:
- Chr2:43813120
| ABCG5, DYNC2LI1 | R651K | Cardiovascular phenotype | Uncertain significance (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040261
- GRCh38:
- Chr2:43813122
| ABCG5, DYNC2LI1 | | not provided | Uncertain significance (May 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040266
- GRCh38:
- Chr2:43813127
| ABCG5, DYNC2LI1 | I649L | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040301
- GRCh38:
- Chr2:43813162
| ABCG5, DYNC2LI1 | L637P | not specified | Uncertain significance (Jul 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040307
- GRCh38:
- Chr2:43813168
| ABCG5, DYNC2LI1 | V635A | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040313
- GRCh38:
- Chr2:43813174
| DYNC2LI1, ABCG5 | A633G | Cardiovascular phenotype | Uncertain significance (Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040320
- GRCh38:
- Chr2:43813181
| ABCG5, DYNC2LI1 | I631F | Cardiovascular phenotype | Uncertain significance (Feb 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040321
- GRCh38:
- Chr2:43813182
| ABCG5, DYNC2LI1 | F630fs | Sitosterolemia 2, not provided, Sitosterolemia
| Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44040323
- GRCh38:
- Chr2:43813184
| ABCG5, DYNC2LI1 | F630I | Inborn genetic diseases | Uncertain significance (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040325
- GRCh38:
- Chr2:43813186
| ABCG5, DYNC2LI1 | S629* | Sitosterolemia | Pathogenic (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040333
- GRCh38:
- Chr2:43813194
| ABCG5, DYNC2LI1 | | Sitosterolemia | Likely benign (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040338
- GRCh38:
- Chr2:43813199
| ABCG5, DYNC2LI1 | L625V | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040339
- GRCh38:
- Chr2:43813200
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Jul 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040341
- GRCh38:
- Chr2:43813202
| ABCG5, DYNC2LI1 | F624L | Sitosterolemia, not provided, Sitosterolemia 2, Sitosterolemia 1, Thrombocytopenia | Uncertain significance (Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040347
- GRCh38:
- Chr2:43813208
| ABCG5, DYNC2LI1 | M622V | not specified, Sitosterolemia 2, Sitosterolemia 1, not provided, Cardiovascular phenotype, Sitosterolemia
| Benign/Likely benign (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040355
- GRCh38:
- Chr2:43813216
| ABCG5, DYNC2LI1 | R619T | Sitosterolemia 2, Cardiovascular phenotype, Sitosterolemia
| Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040361
- GRCh38:
- Chr2:43813222
| ABCG5, DYNC2LI1 | T617R | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040373
- GRCh38:
- Chr2:43813234
| ABCG5, DYNC2LI1 | C613Y | Sitosterolemia | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040376
- GRCh38:
- Chr2:43813237
| ABCG5, DYNC2LI1 | T612N | Inborn genetic diseases | Uncertain significance (Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040383
- GRCh38:
- Chr2:43813244
| ABCG5, DYNC2LI1 | E610Q | Cardiovascular phenotype | Uncertain significance (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040385
- GRCh38:
- Chr2:43813246
| ABCG5, DYNC2LI1 | I609T | Sitosterolemia 2, Cardiovascular phenotype | Uncertain significance (Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040386
- GRCh38:
- Chr2:43813247
| DYNC2LI1, ABCG5 | I609V | Cardiovascular phenotype | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040401
- GRCh38:
- Chr2:43813262
| ABCG5, DYNC2LI1 | Q604E | Sitosterolemia, Sitosterolemia 1, Cardiovascular phenotype, not specified, not provided | Benign/Likely benign (Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040405
- GRCh38:
- Chr2:43813266
| ABCG5, DYNC2LI1 | | not specified, Sitosterolemia, not provided, Sitosterolemia 1, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Aug 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44040412
- GRCh38:
- Chr2:43813273
| DYNC2LI1, ABCG5 | C600Y | Sitosterolemia 2 | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040419
- GRCh38:
- Chr2:43813280
| ABCG5, DYNC2LI1 | P598T | Cardiovascular phenotype | Uncertain significance (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040436
- GRCh38:
- Chr2:43813297
| ABCG5, DYNC2LI1 | V592A | Sitosterolemia | Uncertain significance (Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040441
- GRCh38:
- Chr2:43813302
| DYNC2LI1, ABCG5 | | not provided | Uncertain significance (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040443
- GRCh38:
- Chr2:43813304
| DYNC2LI1, ABCG5 | S590P | Sitosterolemia 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040455
- GRCh38:
- Chr2:43813316
| ABCG5, DYNC2LI1 | | not provided, not specified, Sitosterolemia
| Benign/Likely benign (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44040562
- GRCh38:
- Chr2:43813423
| ABCG5, DYNC2LI1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44040658
- GRCh38:
- Chr2:43813519
| ABCG5, DYNC2LI1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041279
- GRCh38:
- Chr2:43814140
| ABCG5, DYNC2LI1 | | not provided | Benign (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041602
- GRCh38:
- Chr2:43814463
| ABCG5, DYNC2LI1 | | Sitosterolemia | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041615
- GRCh38:
- Chr2:43814476
| ABCG5, DYNC2LI1 | | Inborn genetic diseases | Pathogenic (May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041634
- GRCh38:
- Chr2:43814495
| DYNC2LI1, ABCG5 | G582R | not provided, Sitosterolemia, Sitosterolemia 1, Sitosterolemia 2 | Conflicting interpretations of pathogenicity (Sep 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44041645
- GRCh38:
- Chr2:43814506
| DYNC2LI1, ABCG5 | N578S | Cardiovascular phenotype, not provided, Sitosterolemia
| Uncertain significance (Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44041647
- GRCh38:
- Chr2:43814508
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041651
- GRCh38:
- Chr2:43814512
| ABCG5, DYNC2LI1 | V576A | Cardiovascular phenotype | Uncertain significance (Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041658
- GRCh38:
- Chr2:43814519
| DYNC2LI1, ABCG5 | I574F | Cardiovascular phenotype | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041667
- GRCh38:
- Chr2:43814528
| ABCG5, DYNC2LI1 | C571R | Sitosterolemia, not provided | Uncertain significance (Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44041671
- GRCh38:
- Chr2:43814532
| ABCG5, DYNC2LI1 | K569N | not provided, Inborn genetic diseases | Uncertain significance (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44041680
- GRCh38:
- Chr2:43814541
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Mar 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041689
- GRCh38:
- Chr2:43814550
| DYNC2LI1, ABCG5 | | Cardiovascular phenotype | Likely benign (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041690-44041691
- GRCh38:
- Chr2:43814551-43814552
| ABCG5, DYNC2LI1 | | not provided | Uncertain significance (Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041692
- GRCh38:
- Chr2:43814553
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Jul 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041696-44041697
- GRCh38:
- Chr2:43814557-43814558
| ABCG5, DYNC2LI1 | I561fs | Sitosterolemia | Pathogenic (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041706
- GRCh38:
- Chr2:43814567
| ABCG5, DYNC2LI1 | P558A | Cardiovascular phenotype | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041710
- GRCh38:
- Chr2:43814571
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041711
- GRCh38:
- Chr2:43814572
| DYNC2LI1, ABCG5 | P556L | Cardiovascular phenotype | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041721
- GRCh38:
- Chr2:43814582
| ABCG5, DYNC2LI1 | Q553* | Sitosterolemia | Pathogenic (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041724
- GRCh38:
- Chr2:43814585
| ABCG5, DYNC2LI1 | I552L | Cardiovascular phenotype | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44041894
- GRCh38:
- Chr2:43814755
| ABCG5, DYNC2LI1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44046912
- GRCh38:
- Chr2:43819773
| ABCG5, DYNC2LI1 | | not provided | Likely benign (Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047045
- GRCh38:
- Chr2:43819906
| ABCG5, DYNC2LI1 | | Sitosterolemia | Likely benign (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047051-44047052
- GRCh38:
- Chr2:43819912-43819913
| ABCG5, DYNC2LI1 | | Sitosterolemia 2 | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047059
- GRCh38:
- Chr2:43819920
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (Dec 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047063
- GRCh38:
- Chr2:43819924
| ABCG5, DYNC2LI1 | G547A | not specified | Uncertain significance (Apr 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047064-44047065
- GRCh38:
- Chr2:43819925-43819926
| ABCG5, DYNC2LI1 | G547fs | not provided | Likely pathogenic (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047068
- GRCh38:
- Chr2:43819929
| DYNC2LI1, ABCG5 | | Cardiovascular phenotype | Likely benign (Mar 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047072
- GRCh38:
- Chr2:43819933
| DYNC2LI1, ABCG5 | V544D | not provided | Uncertain significance (Sep 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047075
- GRCh38:
- Chr2:43819936
| ABCG5, DYNC2LI1 | L543P | Cardiovascular phenotype | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047082
- GRCh38:
- Chr2:43819943
| ABCG5, DYNC2LI1 | G541W | not provided, Sitosterolemia | Uncertain significance (May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:44047083
- GRCh38:
- Chr2:43819944
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype | Likely benign (May 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047083
- GRCh38:
- Chr2:43819944
| ABCG5, DYNC2LI1 | | Cardiovascular phenotype, Sitosterolemia | Conflicting interpretations of pathogenicity (Nov 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44047087
- GRCh38:
- Chr2:43819948
| ABCG5, DYNC2LI1 | I539T | Cardiovascular phenotype | Uncertain significance (Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44047097
- GRCh38:
- Chr2:43819958
| ABCG5, DYNC2LI1 | | Sitosterolemia | Likely benign (May 31, 2022) | criteria provided, single submitter |