U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 583

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Nov 19, 2013)
no assertion criteria provided
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, 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 casesBenign
(Feb 4, 2013)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr2:43903949-45243200
GRCh38:
Chr2:43676810-45016061
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr2:43989514-45187428
GRCh38:
Chr2:43762375-44960289
See casesUncertain significance
(Jan 27, 2011)
no assertion criteria provided
7.
GRCh37:
Chr2:44036689
GRCh38:
Chr2:43809550
ABCG5, DYNC2LI1not providedBenign
(May 11, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr2:44036800
GRCh38:
Chr2:43809661
ABCG5, DYNC2LI1not providedBenign
(May 11, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr2:44036825
GRCh38:
Chr2:43809686
DYNC2LI1, ABCG5not providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:44036850
GRCh38:
Chr2:43809711
ABCG5, DYNC2LI1E334*, E335*Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactylyPathogenic
(Jun 16, 2015)
no assertion criteria provided
11.
GRCh37:
Chr2:44036866
GRCh38:
Chr2:43809727
ABCG5, DYNC2LI1S340N, S339Nnot provided, Inborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:44036890
GRCh38:
Chr2:43809751
ABCG5, DYNC2LI1I347N, I348NInborn genetic diseasesUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:44036891
GRCh38:
Chr2:43809752
DYNC2LI1, ABCG5not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:44036892
GRCh38:
Chr2:43809753
ABCG5, DYNC2LI1E349K, E348KInborn genetic diseasesUncertain significance
(Mar 23, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr2:44036892
GRCh38:
Chr2:43809753
ABCG5, DYNC2LI1E349Q, E348Qnot providedBenign
(Oct 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:44036913
GRCh38:
Chr2:43809774
ABCG5, DYNC2LI1not providedBenign
(May 4, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr2:44036922
GRCh38:
Chr2:43809783
ABCG5, DYNC2LI1not providedBenign
(May 11, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr2:44037047
GRCh38:
Chr2:43809908
ABCG5, DYNC2LI1not providedBenign
(May 12, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr2:44039633
GRCh38:
Chr2:43812494
ABCG5, DYNC2LI1Sitosterolemia 1Benign
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr2:44039634
GRCh38:
Chr2:43812495
ABCG5, DYNC2LI1Sitosterolemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr2:44039663
GRCh38:
Chr2:43812524
DYNC2LI1, ABCG5Sitosterolemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr2:44039720
GRCh38:
Chr2:43812581
ABCG5, DYNC2LI1Sitosterolemia 1Benign
(Apr 27, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr2:44039733
GRCh38:
Chr2:43812594
DYNC2LI1, ABCG5Sitosterolemia 1Benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:44039744
GRCh38:
Chr2:43812605
ABCG5, DYNC2LI1Sitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr2:44039839
GRCh38:
Chr2:43812700
ABCG5, DYNC2LI1Sitosterolemia 1Benign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr2:44039856
GRCh38:
Chr2:43812717
ABCG5, DYNC2LI1Sitosterolemia 1Benign
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr2:44039875
GRCh38:
Chr2:43812736
DYNC2LI1, ABCG5Sitosterolemia 1, not providedBenign
(Apr 19, 2019)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:44039897-44039898
GRCh38:
Chr2:43812758-43812759
ABCG5, DYNC2LI1SitosterolemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr2:44039903
GRCh38:
Chr2:43812764
ABCG5, DYNC2LI1Sitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:44039970
GRCh38:
Chr2:43812831
DYNC2LI1, ABCG5not provided, Sitosterolemia 1Conflicting interpretations of pathogenicity
(Jul 10, 2018)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr2:44040030
GRCh38:
Chr2:43812891
ABCG5, DYNC2LI1Sitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:44040102
GRCh38:
Chr2:43812963
ABCG5, DYNC2LI1Sitosterolemia 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr2:44040183
GRCh38:
Chr2:43813044
ABCG5, DYNC2LI1not providedLikely benign
(Oct 7, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr2:44040259
GRCh38:
Chr2:43813120
ABCG5, DYNC2LI1R651KCardiovascular phenotypeUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:44040261
GRCh38:
Chr2:43813122
ABCG5, DYNC2LI1not providedUncertain significance
(May 30, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr2:44040266
GRCh38:
Chr2:43813127
ABCG5, DYNC2LI1I649LInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr2:44040301
GRCh38:
Chr2:43813162
ABCG5, DYNC2LI1L637Pnot specifiedUncertain significance
(Jul 18, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr2:44040307
GRCh38:
Chr2:43813168
ABCG5, DYNC2LI1V635ASitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr2:44040313
GRCh38:
Chr2:43813174
DYNC2LI1, ABCG5A633GCardiovascular phenotypeUncertain significance
(Oct 19, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr2:44040320
GRCh38:
Chr2:43813181
ABCG5, DYNC2LI1I631FCardiovascular phenotypeUncertain significance
(Feb 26, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr2:44040321
GRCh38:
Chr2:43813182
ABCG5, DYNC2LI1F630fsSitosterolemia 2, not provided, Sitosterolemia
Conflicting interpretations of pathogenicity
(Oct 26, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr2:44040323
GRCh38:
Chr2:43813184
ABCG5, DYNC2LI1F630IInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr2:44040325
GRCh38:
Chr2:43813186
ABCG5, DYNC2LI1S629*SitosterolemiaPathogenic
(Sep 29, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:44040333
GRCh38:
Chr2:43813194
ABCG5, DYNC2LI1SitosterolemiaLikely benign
(Aug 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:44040338
GRCh38:
Chr2:43813199
ABCG5, DYNC2LI1L625VSitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr2:44040339
GRCh38:
Chr2:43813200
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Jul 27, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr2:44040341
GRCh38:
Chr2:43813202
ABCG5, DYNC2LI1F624LSitosterolemia, not provided, Sitosterolemia 2,
Sitosterolemia 1, Thrombocytopenia
Uncertain significance
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:44040347
GRCh38:
Chr2:43813208
ABCG5, DYNC2LI1M622Vnot specified, Sitosterolemia 2, Sitosterolemia 1,
not provided, Cardiovascular phenotype, Sitosterolemia
Benign/Likely benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:44040355
GRCh38:
Chr2:43813216
ABCG5, DYNC2LI1R619TSitosterolemia 2, Cardiovascular phenotype, Sitosterolemia
Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:44040361
GRCh38:
Chr2:43813222
ABCG5, DYNC2LI1T617RSitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr2:44040373
GRCh38:
Chr2:43813234
ABCG5, DYNC2LI1C613YSitosterolemiaUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:44040376
GRCh38:
Chr2:43813237
ABCG5, DYNC2LI1T612NInborn genetic diseasesUncertain significance
(Apr 12, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr2:44040383
GRCh38:
Chr2:43813244
ABCG5, DYNC2LI1E610QCardiovascular phenotypeUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:44040385
GRCh38:
Chr2:43813246
ABCG5, DYNC2LI1I609TSitosterolemia 2, Cardiovascular phenotypeUncertain significance
(Jan 7, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:44040386
GRCh38:
Chr2:43813247
DYNC2LI1, ABCG5I609VCardiovascular phenotypeUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:44040401
GRCh38:
Chr2:43813262
ABCG5, DYNC2LI1Q604ESitosterolemia, Sitosterolemia 1, Cardiovascular phenotype,
not specified, not provided
Benign/Likely benign
(Apr 4, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:44040405
GRCh38:
Chr2:43813266
ABCG5, DYNC2LI1not specified, Sitosterolemia, not provided,
Sitosterolemia 1, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 17, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:44040412
GRCh38:
Chr2:43813273
DYNC2LI1, ABCG5C600YSitosterolemia 2Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:44040419
GRCh38:
Chr2:43813280
ABCG5, DYNC2LI1P598TCardiovascular phenotypeUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:44040436
GRCh38:
Chr2:43813297
ABCG5, DYNC2LI1V592ASitosterolemiaUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr2:44040441
GRCh38:
Chr2:43813302
DYNC2LI1, ABCG5not providedUncertain significance
(Jul 10, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr2:44040443
GRCh38:
Chr2:43813304
DYNC2LI1, ABCG5S590PSitosterolemia 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr2:44040455
GRCh38:
Chr2:43813316
ABCG5, DYNC2LI1not provided, not specified, Sitosterolemia
Benign/Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:44040562
GRCh38:
Chr2:43813423
ABCG5, DYNC2LI1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr2:44040658
GRCh38:
Chr2:43813519
ABCG5, DYNC2LI1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:44041279
GRCh38:
Chr2:43814140
ABCG5, DYNC2LI1not providedBenign
(Jul 6, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:44041602
GRCh38:
Chr2:43814463
ABCG5, DYNC2LI1SitosterolemiaLikely benign
(Sep 27, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:44041615
GRCh38:
Chr2:43814476
ABCG5, DYNC2LI1Inborn genetic diseasesPathogenic
(May 8, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr2:44041634
GRCh38:
Chr2:43814495
DYNC2LI1, ABCG5G582Rnot provided, Sitosterolemia, Sitosterolemia 1,
Sitosterolemia 2
Conflicting interpretations of pathogenicity
(Sep 17, 2021)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr2:44041645
GRCh38:
Chr2:43814506
DYNC2LI1, ABCG5N578SCardiovascular phenotype, not provided, Sitosterolemia
Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:44041647
GRCh38:
Chr2:43814508
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Nov 8, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr2:44041651
GRCh38:
Chr2:43814512
ABCG5, DYNC2LI1V576ACardiovascular phenotypeUncertain significance
(Apr 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr2:44041658
GRCh38:
Chr2:43814519
DYNC2LI1, ABCG5I574FCardiovascular phenotypeUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr2:44041667
GRCh38:
Chr2:43814528
ABCG5, DYNC2LI1C571RSitosterolemia, not providedUncertain significance
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:44041671
GRCh38:
Chr2:43814532
ABCG5, DYNC2LI1K569Nnot provided, Inborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:44041680
GRCh38:
Chr2:43814541
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Mar 26, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr2:44041689
GRCh38:
Chr2:43814550
DYNC2LI1, ABCG5Cardiovascular phenotypeLikely benign
(Oct 1, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr2:44041690-44041691
GRCh38:
Chr2:43814551-43814552
ABCG5, DYNC2LI1not providedUncertain significance
(Sep 11, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr2:44041692
GRCh38:
Chr2:43814553
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Jul 31, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr2:44041696-44041697
GRCh38:
Chr2:43814557-43814558
ABCG5, DYNC2LI1I561fsSitosterolemiaPathogenic
(Oct 28, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:44041706
GRCh38:
Chr2:43814567
ABCG5, DYNC2LI1P558ACardiovascular phenotypeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr2:44041710
GRCh38:
Chr2:43814571
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Oct 28, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr2:44041711
GRCh38:
Chr2:43814572
DYNC2LI1, ABCG5P556LCardiovascular phenotypeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:44041721
GRCh38:
Chr2:43814582
ABCG5, DYNC2LI1Q553*SitosterolemiaPathogenic
(Feb 5, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr2:44041724
GRCh38:
Chr2:43814585
ABCG5, DYNC2LI1I552LCardiovascular phenotypeUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:44041894
GRCh38:
Chr2:43814755
ABCG5, DYNC2LI1not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr2:44046912
GRCh38:
Chr2:43819773
ABCG5, DYNC2LI1not providedLikely benign
(Jul 5, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr2:44047045
GRCh38:
Chr2:43819906
ABCG5, DYNC2LI1SitosterolemiaLikely benign
(Oct 4, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr2:44047051-44047052
GRCh38:
Chr2:43819912-43819913
ABCG5, DYNC2LI1Sitosterolemia 2Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr2:44047059
GRCh38:
Chr2:43819920
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(Dec 31, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:44047063
GRCh38:
Chr2:43819924
ABCG5, DYNC2LI1G547Anot specifiedUncertain significance
(Apr 2, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr2:44047064-44047065
GRCh38:
Chr2:43819925-43819926
ABCG5, DYNC2LI1G547fsnot providedLikely pathogenic
(Sep 15, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr2:44047068
GRCh38:
Chr2:43819929
DYNC2LI1, ABCG5Cardiovascular phenotypeLikely benign
(Mar 4, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr2:44047072
GRCh38:
Chr2:43819933
DYNC2LI1, ABCG5V544Dnot providedUncertain significance
(Sep 1, 2019)
criteria provided, single submitter
95.
GRCh37:
Chr2:44047075
GRCh38:
Chr2:43819936
ABCG5, DYNC2LI1L543PCardiovascular phenotypeUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr2:44047082
GRCh38:
Chr2:43819943
ABCG5, DYNC2LI1G541Wnot provided, SitosterolemiaUncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:44047083
GRCh38:
Chr2:43819944
ABCG5, DYNC2LI1Cardiovascular phenotypeLikely benign
(May 27, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr2:44047083
GRCh38:
Chr2:43819944
ABCG5, DYNC2LI1Cardiovascular phenotype, SitosterolemiaConflicting interpretations of pathogenicity
(Nov 21, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr2:44047087
GRCh38:
Chr2:43819948
ABCG5, DYNC2LI1I539TCardiovascular phenotypeUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:44047097
GRCh38:
Chr2:43819958
ABCG5, DYNC2LI1SitosterolemiaLikely benign
(May 31, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination