| - GRCh37:
- Chr2:66097-55797773
- GRCh38:
- Chr2:66097-55570637
| 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, C2orf16, C2orf48, C2orf50, C2orf73, CAD, CALM2, CAMKMT, CAPN13, CAPN14, CCDC121, CCDC88A, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CFAP36, CGREF1, CHAC2, CIB4, 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, FAM166C, 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, LOC100506274, LOC100506474, LOC100996637, LOC101929452, LOC101929551, LOC102723730, LOC105373352, LOC105373394, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, LOC107985837, 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, 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, LOC730100, 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, MYT1L, MYT1L-AS1, NBAS, NCOA1, NDUFAF7, NLRC4, NOL10, NRBP1, NRIR, NRXN1, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OXER1, PCARE, PDIA6, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, 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, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:236816-46210371
- GRCh38:
- Chr2:236816-45983232
| PCARE, PDIA6, PFN4, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1G, PPP1CB, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PRR30, PTRHD1, PUM2, PXDN, QPCT, RAB10, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, RHOB, RMDN2, RMDN2-AS1, RNASEH1, RNASEH1-DT, RNF144A, ROCK2, RPS7, RRM2, RSAD2, SDC1, SELENOI, SF3B6, SH3YL1, SILC1, SIX2, SIX3, SIX3-AS1, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SNORA10B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNTG2, SNTG2-AS1, SNX17, SOS1, SOS1-IT1, SOX11, SPAST, SPDYA, SRBD1, SRD5A2, SRSF7, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, 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, ABCG5, ABCG8, ABHD1, ACP1, ADAM17, ADCY3, ADGRF3, ADI1, AGBL5, AGBL5-AS1, ALK, ALKAL2, ALLC, APOB, APOB-ICR, APOB3'MAR, ARHGEF33, ASAP2, ASXL2, ATAD2B, ATL2, ATP6V1C2, ATRAID, BABAM2, BABAM2-AS1, BIRC6, BIRC6-AS2, C1GALT1C1L, C2orf16, C2orf48, C2orf50, CAD, CAMKMT, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CGREF1, CIB4, CLIP4, CMPK2, COLEC11, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CYP1B1, CYP1B1-AS1, CYRIA, CYS1, DCDC2C, DDX1, DHX57, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, DTNB-AS1, DYNC2LI1, E2F6, EFR3B, EHD3, EIF2AK2, EIF2B4, EIPR1, EMILIN1, EML4, EML4-AS1, FAM166C, FAM228A, FAM228B, FAM98A, FEZ2, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, GACAT3, GALM, GALNT14, GAREM2, GCKR, GDF7, GEMIN6, GEN1, GPATCH11, GPN1, GRASLND, GREB1, GRHL1, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, IAH1, 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, LOC100506474, LOC100996637, LOC101929452, LOC101929551, LOC102723730, LOC105373352, LOC105373394, LOC105374378, LOC105374389, LOC106560211, LOC106728414, LOC107457596, LOC107985792, LOC107985837, LOC107985856, LOC108167315, LOC108281152, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC120961741, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC121725077, LOC121725078, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC122710286, LOC122710287, LOC122710288, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, 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 | | See cases | Pathogenic (Nov 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:7635254-88005418
- GRCh38:
- Chr2:7495123-87705899
| SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ZNF638, ZNF638-IT1, 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, LOC730100, LOC90784, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMANTIS, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR2, ACYP2, ADAM17, ADCY3, ADD2, ADGRF3, AFTPH, AFTPH-DT, AGBL5, AGBL5-AS1, ALK, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, APOB, APOB-ICR, APOB3'MAR, ARHGAP25, ARHGEF33, ASAP2, ASB3, ASPRV1, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1B1-AS1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BABAM2-AS1, BCL11A, BCYRN1, BIRC6, BIRC6-AS2, BMP10, BOLA3, BOLA3-DT, C1D, C1GALT1C1L, C2orf16, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-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, CLEC4F, CLHC1, CLIP4, CNRIP1, COMMD1, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CTNNA2, CTNNA2-AS1, CYP1B1, CYP1B1-AS1, CYP26B1, CYRIA, CYS1, CYTOR, DCTN1, DCTN1-AS1, DDX1, DGUOK, DGUOK-AS1, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTNB-AS1, DUSP11, DYNC2LI1, DYSF, E2F6, EFEMP1, EFR3B, EGR4, EHBP1, EHBP1-AS1, EHD3, EIF2AK2, EIF2B4, ELMOD3, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EMX1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM166C, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, 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, LOC100506474, LOC100507006, LOC101927661, LOC101927948, LOC101927967, LOC101929551, LOC102724579, LOC105374378, LOC105374389, 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 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:40965422-58090956
- GRCh38:
- Chr2:40738282-57863821
| MIR3682, MIR4431, MIR548BA, MIR559, MIR8485, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, NRXN1, OXER1, PIGF, PKDCC, PLEKHH2, PNPT1, PPM1B, PPP1R21, PPP4R3B, 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, 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, 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, LOC730100, LRPPRC, MCFD2, MIR216A, MIR216B, MIR217, MIR217HG | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42226554-43142884
- GRCh38:
- Chr2:41999414-42915744
| COX7A2L, EML4, EML4-AS1, HAAO, KCNG3, LOC111465020, LOC112840932, LOC120961748, LOC122757925, LOC122757926, MTA3, OXER1, PKDCC, TRI-TAT2-1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42994581
- GRCh38:
- Chr2:42767441
| HAAO | G286V | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42995018
- GRCh38:
- Chr2:42767878
| HAAO | | not provided | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42996819
- GRCh38:
- Chr2:42769679
| HAAO | | Vertebral, cardiac, renal, and limb defects syndrome 1 | Benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42996917
- GRCh38:
- Chr2:42769777
| HAAO | S189N | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42996925
- GRCh38:
- Chr2:42769785
| HAAO | W186* | Vertebral, cardiac, renal, and limb defects syndrome 1, Congenital NAD deficiency disorder | Pathogenic (Apr 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:42996959
- GRCh38:
- Chr2:42769819
| HAAO | R175P | Vertebral, cardiac, renal, and limb defects syndrome 1 | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42997283-42997284
- GRCh38:
- Chr2:42770144
| HAAO | D162* | Vertebral, cardiac, renal, and limb defects syndrome 1, Congenital NAD deficiency disorder | Pathogenic (Apr 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:42997614
- GRCh38:
- Chr2:42770474
| HAAO | | Vertebral, cardiac, renal, and limb defects syndrome 1 | Benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42997642
- GRCh38:
- Chr2:42770502
| HAAO | I144T | Vertebral, cardiac, renal, and limb defects syndrome 1 | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010481
- GRCh38:
- Chr2:42783341
| HAAO | R108Q | not provided | Likely pathogenic (Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010503
- GRCh38:
- Chr2:42783363
| HAAO | G101W | not provided | Likely pathogenic (Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010506
- GRCh38:
- Chr2:42783366
| HAAO | V100M | Inborn genetic diseases | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010923
- GRCh38:
- Chr2:42783783
| HAAO | | Vertebral, cardiac, renal, and limb defects syndrome 1 | Likely pathogenic (Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010941
- GRCh38:
- Chr2:42783801
| HAAO | V76L | Inborn genetic diseases | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010950
- GRCh38:
- Chr2:42783810
| HAAO | R73W | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43010968
- GRCh38:
- Chr2:42783828
| HAAO | L67V | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43015687
- GRCh38:
- Chr2:42788547
| HAAO | H47Q | Vertebral, cardiac, renal, and limb defects syndrome 1, Congenital NAD deficiency disorder | Pathogenic (Jul 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:43015700
- GRCh38:
- Chr2:42788560
| HAAO | R43K | Vertebral, cardiac, renal, and limb defects syndrome 1 | Uncertain significance (Jun 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43015704
- GRCh38:
- Chr2:42788564
| HAAO | T42S | Vertebral, cardiac, renal, and limb defects syndrome 1 | Benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43015719
- GRCh38:
- Chr2:42788579
| HAAO | I37V | Vertebral, cardiac, renal, and limb defects syndrome 1 | Benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43015757
- GRCh38:
- Chr2:42788617
| HAAO | | Vertebral, cardiac, renal, and limb defects syndrome 1 | Benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:43019634
- GRCh38:
- Chr2:42792494
| HAAO | R15fs | Vertebral, cardiac, renal, and limb defects syndrome 1, Congenital NAD deficiency disorder | Pathogenic (Jul 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:43019656
- GRCh38:
- Chr2:42792516
| HAAO | R8fs | Vertebral, cardiac, renal, and limb defects syndrome 1 | Likely pathogenic (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:38121051-47710088
| BCYRN1, CALM2, ABCG5, ABCG8, ARHGEF33, ATL2, ATP6V1E2, CAMKMT, CDKL4, COX7A2L, CRIPT, CYP1B1, DHX57, DYNC2LI1, EML4, EPAS1, EPCAM, GALM, GEMIN6, HAAO, HNRNPLL, KCNG3, LINC02898, LRPPRC, MAP4K3, MCFD2, MORN2, MSH2, MTA3, OXER1, PIGF, PKDCC, PLEKHH2, PPM1B, PREPL, PRKCE, RHOQ, RMDN2, SIX2, SIX3, SLC3A1, SLC8A1, SOCS5, SOS1, SOS1-IT1, SRBD1, SRSF7, STPG4, THADA, THUMPD2, TMEM178A, TMEM247, TTC7A, ZFP36L2 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:11504318-111365996
| MEMO1, MFSD2B, MFSD9, MGAT4A, MIR216A, MIR217, MITD1, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL30, MRPL33, MRPL35, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, NAGK, NAT8, NAT8B, NBAS, NCAPH, NCK2, NCOA1, NDUFAF7, NFU1, NLRC4, NMS, NOTO, NPAS2, NPHP1, NRBP1, NRXN1, NT5C1B, NT5C1B-RDH14, NTSR2, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PCARE, PCBP1, PCGF1, PCYOX1, PDCL3, PELI1, PEX13, PFN4, PIGF, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKCE, PRKD3, PROKR1, PROM2, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RANBP2, RASGRP3, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RETSAT, REV1, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RHOB, RHOQ, RMDN2, RMND5A, RNF103, RNF103-CHMP3, RNF149, RNF181, RPIA, RPL31, RPS27A, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SLC1A4, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC5A7, SLC8A1, SLC9A2, SLC9A4, SMC6, SMYD1, SMYD5, SNRNP200, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SPAST, SPDYA, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST6GAL2, STAMBP, STARD7, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUPT7L, TACR1, TBC1D8, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX37, TGFA, TGFBRAP1, TGOLN2, THADA, THNSL2, THUMPD2, TIA1, TLX2, TMEM127, TMEM131, TMEM150A, TMEM17, TMEM178A, TMEM182, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRABD2A, TRIB2, TRIM43, TRIM43B, TRIM54, TRMT61B, TSGA10, TSPYL6, TTC27, TTC31, TTC32, TTC7A, TXNDC9, UBXN2A, UCN, UGP2, UNC50, USP34, USP39, UXS1, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, VWA3B, WBP1, WDCP, WDPCP, WDR35, WDR43, WDR54, XDH, XPO1, YIPF4, YPEL5, ZAP70, ZFP36L2, ZNF2, ZNF512, ZNF513, ZNF514, ZNF638, AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR1B, ACTR2, ACYP2, ADCY3, ADD2, ADGRF3, ADRA2B, AFF3, AFTPH, AGBL5, ALK, ALMS1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD53, ANTXR1, ANXA4, APLF, APOB, ARHGAP25, ARHGEF33, ARID5A, ASB3, ASPRV1, ASTL, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BCL11A, BCYRN1, BIRC6, BMP10, BOLA3, C1D, C2orf15, C2orf16, C2orf42, C2orf49, C2orf68, C2orf73, C2orf74, C2orf78, C2orf81, CAD, CALM2, CAMKMT, CAPG, CAPN13, CAPN14, CCDC121, CCDC138, CCDC142, CCDC85A, CCDC88A, CCT4, CCT7, CD207, CD8A, CD8B, CDC42EP3, CDKL4, CEBPZ, CENPA, CENPO, CEP68, CFAP36, CGREF1, CHAC2, CHMP3, CHST10, CIAO1, CIB4, CLEC4F, CLHC1, CLIP4, CNGA3, CNNM3, CNNM4, CNOT11, CNRIP1, COA5, COMMD1, COX5B, COX7A2L, CRACDL, CREG2, CRIM1, CRIPT, CTNNA2, CYP1B1, CYP26B1, CYRIA, DCTN1, DDX1, DGUOK, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DUSP11, DUSP2, DYNC2LI1, DYSF, E2F6, ECRG4, EDAR, EFEMP1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF5B, ELMOD3, EMILIN1, EML4, EML6, EMX1, EPAS1, EPCAM, ERLEC1, ETAA1, EVA1A, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM136A, FAM161A, FAM166C, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FER1L5, FEZ2, FHL2, FIGLA, FKBP1B, FNDC4, FOSL2, FOXI3, FOXN2, FSHR, GALM, GALNT14, GAREM2, GCC2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPAT2, GPATCH11, GPN1, GPR45, GPR75, GPR75-ASB3, GREB1, GTF2A1L, GTF3C2, HAAO, HADHA, HADHB, HEATR5B, HK2, HNRNPLL, HS1BP3, HTRA2, IFT172, IGKC, IL18R1, IL18RAP, IL1R1, IL1R2, IL1RL1, IL1RL2, IMMT, INO80B, INPP4A, ITPRIPL1, ITSN2, KANSL3, KCMF1, KCNG3, KCNIP3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIF3C, KLHL29, KRCC1, KRTCAP3, LAPTM4A, LBH, LBX2, LCLAT1, LDAH, LGALSL, LHCGR, LIMS1, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LONRF2, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LTBP1, LYG1, LYG2, M1AP, MAL, MALL, MAP4K3, MAP4K4, MAPRE3, MAT2A, MATN3, MCEE, MCFD2, MDH1, MEIS1 | | See cases | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:1-243199373
| ABCG5, C1D, C1QL2, CMPK2, CNGA3, EEF1B2, GBX2, GEMIN6, GPAT2, GPATCH11, GPN1, GPR55, GKN2, GLB1L, GPBAR1, GPC1, GPD2, GCFC2, GCG, GCA, GCC2, GCKR, GDF7, ELMOD3, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EFEMP1, EFHD1, EIF2B4, EIF4E2, EIF5B, EIPR1, COMMD1, COPS7B, COPS8, COLEC11, CNOT11, CNOT9, CNNM3, CNNM4, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, C2orf69, C2orf27A, C2orf42, C2orf48, C2orf49, C2CD6, C2orf72, C2orf15, C2orf16, C2orf50, C2orf66, C2orf68, ABI2, ACP1, ABCG8, ABHD1, ACADL, ACKR3, ACMSD, ACOXL, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, AAK1, AAMP, ABCA12, ABCB11, ABCB6, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR75, GPR75-ASB3, GRB14, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX37, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2 | | Mosaic trisomy 2 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:39751028-43437611
| COX7A2L, EML4, HAAO, KCNG3, LINC02898, MTA3, OXER1, PKDCC, SLC8A1, THUMPD2, TMEM178A | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:24601818-43466284
| ABHD1, ADCY3, ADGRF3, AGBL5, BABAM2, ALK, ARHGEF33, ASXL2, ATL2, ATRAID, BIRC6, C2orf16, CAD, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CENPA, CENPO, CGREF1, CIB4, CLIP4, COX7A2L, CRIM1, CYP1B1, DHX57, DNAJC27, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, EFR3B, EHD3, EIF2AK2, EIF2B4, EMILIN1, EML4, FAM166C, FAM98A, FEZ2, FNDC4, FOSL2, GALM, GALNT14, GAREM2, GCKR, GEMIN6, GPATCH11, GPN1, GTF3C2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, IFT172, KCNG3, KCNK3, KHK, KIF3C, KRTCAP3, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MAPRE3, MEMO1, MORN2, MPV17, MRPL33, MTA3, NCOA1, NDUFAF7, NLRC4, NRBP1, OST4, OTOF, OXER1, PCARE, PKDCC, PLB1, POMC, PPM1G, PPP1CB, PREB, PRKD3, PRR30, PTRHD1, QPCT, RAB10, RASGRP3, RBKS, RMDN2, SELENOI, SLC30A3, SLC30A6, SLC35F6, SLC4A1AP, SLC5A6, SLC8A1, SNX17, SOS1, SOS1-IT1, SPAST, SPDYA, SRD5A2, SRSF7, STRN, SULT6B1, SUPT7L, TCF23, THADA, THUMPD2, TMEM178A, TMEM214, TOGARAM2, TRIM54, TRMT61B, TTC27, UCN, VIT, WDR43, XDH, YIPF4, YPEL5, ZFP36L2, ZNF512, ZNF513 | | See cases | Pathogenic (Feb 23, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:24881528-43460021
| ABHD1, ADCY3, ADGRF3, AGBL5, KCNG3, KCNK3, SNX17, SRSF7, STRN, SULT6B1, TRIM54, TRMT61B, TTC27, TMEM214, TOGARAM2, SUPT7L, TCF23, THADA, MRPL33, THUMPD2, TMEM178A, KHK, KIF3C, KRTCAP3, LBH, LCLAT1, LINC02898, LTBP1, MORN2, CIB4, CLIP4, C2orf16, CENPA, CENPO, CGREF1, CAD, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, MAP4K3, MAPRE3, MEMO1, MPV17, BABAM2, BIRC6, YIPF4, YPEL5, ZFP36L2, ZNF512, ZNF513, ALK, ARHGEF33, ASXL2, ATL2, ATRAID, COX7A2L, CRIM1, CYP1B1, DHX57, DNAJC27, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, EFR3B, EHD3, EIF2AK2, EIF2B4, EMILIN1, EML4, FAM166C, FAM98A, FEZ2, FNDC4, FOSL2, GALM, GALNT14, GAREM2, GCKR, GEMIN6, GPATCH11, GPN1, GTF3C2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, IFT172, MTA3, NCOA1, NDUFAF7, NLRC4, NRBP1, OST4, OTOF, OXER1, PCARE, PKDCC, PLB1, POMC, PPM1G, PPP1CB, PREB, PRKD3, PRR30, PTRHD1, QPCT, RAB10, RASGRP3, RBKS, RMDN2, SELENOI, SLC30A3, SLC30A6, SLC35F6, SLC4A1AP, SLC5A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SPDYA, SRD5A2, UCN, VIT, WDR43, XDH | | not provided | Likely pathogenic (Apr 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:42764825-43020914
| HAAO, OXER1, MTA3 | | not provided | Likely benign (Feb 11, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:22665048-52850368
| ABCG5, ABCG8, ABHD1, ADCY3, ADGRF3, AGBL5, ALK, ARHGEF33, ASXL2, ATAD2B, ATL2, ATP6V1E2, ATRAID, BABAM2, BCYRN1, BIRC6, C2orf16, CAD, CALM2, CAMKMT, CAPN13, CAPN14, CCDC121, CDC42EP3, CDKL4, CEBPZ, CENPA, CENPO, CGREF1, CIB4, CLIP4, COX7A2L, CRIM1, CRIPT, CYP1B1, DHX57, DNAJC27, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, DYNC2LI1, EFR3B, EHD3, EIF2AK2, EIF2B4, EMILIN1, EML4, EPAS1, EPCAM, FAM166C, FAM228A, FAM228B, FAM98A, FBXO11, FEZ2, FKBP1B, FNDC4, FOSL2, FOXN2, FSHR, GALM, GALNT14, GAREM2, GCKR, GEMIN6, GPATCH11, GPN1, GTF2A1L, GTF3C2, HAAO, HADHA, HADHB, HEATR5B, HNRNPLL, IFT172, ITSN2, KCNG3, KCNK12, KCNK3, KHK, KIF3C, KLHL29, KRTCAP3, LBH, LCLAT1, LHCGR, LINC02898, LRPPRC, LTBP1, MAP4K3, MAPRE3, MCFD2, MEMO1, MFSD2B, MORN2, MPV17, MRPL33, MSH2, MSH2-OT1, MSH6, MTA3, NCOA1, NDUFAF7, NLRC4, NRBP1, NRXN1, OST4, OTOF, OXER1, PCARE, PFN4, PIGF, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1G, PPP1CB, PPP1R21, PREB, PREPL, PRKCE, PRKD3, PRR30, PTRHD1, QPCT, RAB10, RASGRP3, RBKS, RHOQ, RMDN2, SELENOI, SF3B6, SIX2, SIX3, SLC30A3, SLC30A6, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC8A1, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPDYA, SRBD1, SRD5A2, SRSF7, STON1, STON1-GTF2A1L, STPG4, STRN, SULT6B1, SUPT7L, TCF23, THADA, THUMPD2, TMEM178A, TMEM214, TMEM247, TOGARAM2, TP53I3, TRIM54, TRMT61B, TTC27, TTC7A, UBXN2A, UCN, VIT, WDCP, WDR43, XDH, YIPF4, YPEL5, ZFP36L2, ZNF512, ZNF513 | | not provided | Pathogenic (Jul 15, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:15672-243101834
| ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf16, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2, CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COLEC11, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM166C, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LOC100128563, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, AAK1, AAMP, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, |