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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr18:53345-77967869
GRCh38:
Chr18:53345-80209986
MIR4529, VAPA, MRO, LOC110121330, LOC112577592, ZNF516-DT, DTNA, LOC116276492, NOL4, ACAA2, LINC01879, HDHD2, RNF152, PTPRM, LOC121852958, ANKRD29, PHLPP1, LINC01478, LOC110121440, PRELID3A, GNAL, ST8SIA3, CDH2, SMAD2, LOC114827855, LINC01029, ZCCHC2, CELF4, MIR6788, SYT4, DSC1, TSHZ1, TCF4, SLC14A2, SLC39A6, LOC110121423, ATP9B, LRRC30, LINC01927, LOC110121315, MIR4319, LOC121627823, MYL12A, RAX, SNORD58B, RNF125, LOC110121361, ME2, SERPINB10, LOC111365166, SMCHD1, LOC110121390, ZNF516-AS1, ZNF236-DT, SLC14A2-AS1, RAB31, LOC116276487, MAPK4, DOK6, MIR5011, LOC110121313, NDC80, LINC01912, CDH19, RIT2, LINC01895, TRK-CTT6-1, LOC121852968, LOC108281158, TAF4B, LOC112543437, TXNL1, FBXO15, LOC110120920, LOXHD1, CXXC1, IER3IP1, LOC121627841, CCDC102B, PIEZO2, LOC121852959, LOC110121394, LOC112540018, LOC110121420, NFATC1, ANKRD12, GALNT1, HAUS1, MIR4527, LINC00305, NEDD4L, ATP5F1A, LINC01909, LOC112538445, MIR3976HG, ZNF532, ZNF24, LOC110121438, ZNF516, DLGAP1-AS3, WDR7, MIR320C2, POLI, LINC01910, PIGN, NETO1, COSMOC, LINC00907, LOC110120935, ESCO1, LIVAR, RAB12, RNF165, TMEM241, RNMT, DYNAP, CFAP53, ELAC1, MIR4318, LOC110120867, SETBP1-DT, ARHGAP28, MIR122, ASXL3, THOC1, AQP4-AS1, LINC01255, NAPG, CEP76, PTPN2, TXNDC2, PSMG2, GATA6, POTEC, CTDP1-DT, LINC02864, LOC114827854, MIR302F, MYL12B, TMEM200C, LOC121627826, MIR133A1, RBFA, NARS1, LINC01922, LINC01444, LOC105371998, MIR4317, PPP4R1, ROCK1, LOC112543434, MIR6718, GAPLINC, DSCAS, LOC112543435, LINC02582, MIR4743, CHST9, PIAS2, SCARNA17, LOC112543427, LOC105372071, MIR3976, LOC121627827, LINC01901, DSG1-AS1, LINC01387, LAMA3, LINC01902, CCDC68, C18orf54, LOC113939964, SNORA111, DLGAP1-AS1, LOC105372069, EMILIN2, LOC121627834, LOC110120868, CLUL1, CETN1, APCDD1, TMX3, CD226, RNF138, SETBP1, TYMSOS, LINC01917, MC2R, RBFADN, MIR5583-1, LDLRAD4, PARD6G, MIR7153, MYOM1, MIR3929, MYL12-AS1, LINC01929, SNORA37, LINC01904, RPL17, DLGAP1-AS5, USP14, KC6, LINC01630, LOC112543425, LOC121627829, KATNAL2, LINC01443, LMAN1, LOC121627833, SERPINB4, LINC01926, LOC121852960, MBD1, TTC39C-AS1, LPIN2, MIR8057, LOC110120864, LOC105372028, LOC110121318, LOC121627831, LOC105372179, LINC01892, LOC112543428, CABYR, LOC110120915, TWSG1, LINC01900, MEP1B, GATA6-AS1, MALT1-AS1, C18orf25, LOC112543419, LOC112538442, LOC121852965, C18orf63, LOC110120931, DSG2, SNORA108, LOC112540016, LINC-ROR, ANKRD62, LOC121852961, DSC3, LOC110120865, DCC, LOC116276491, NPC1, ZBTB7C, LOC110120940, LOC110120953, LOC121852967, ONECUT2, LINC01882, EPG5, SERPINB12, LOC114803473, MBP, ZBTB7C-AS2, LOC112543423, SERPINB8, LINC01416, LINC01254, LOC111365201, LOC112543432, LOC121627838, CDH7, L3MBTL4-AS1, PSMA8, MAPRE2, YES1, SOCS6, LINC01539, MIR4527HG, KDSR, LOC100505549, LOC121627830, LINC01894, CNDP2, C18orf15, MIR4741, CIDEA, PARD6G-AS1, CTAGE1, LOC121627840, GACAT2, LINC02837, L3MBTL4, DSEL, LOC112543436, DSEL-AS1, LINC01915, ZNF397, LOC105372038, GREB1L, LOC112543426, LOC110121371, SS18, MIR3156-2, PIK3C3, LOC101927410, LOC112543420, CNDP1, GREB1L-DT, RTTN, LINC01898, C18orf61, LINC00526, METTL4, LINC01896, LOC110121352, TTR, LOC110121314, ADCYAP1, LOC110121416, LOC110121421, B4GALT6, MALT1, LOC121627839, ZBTB14, ALPK2, PPP4R1-AS1, SERPINB2, C18orf21, WDR7-OT1, LOC121852963, MIR3975, TYMS, MIR548AV, DSC2, MIR5190, SMIM21, ZNF396, LOC121725015, CTIF, MIR924HG, SPIRE1, DYM, TTC39C, COLEC12, ZNF521, LINC01893, MOCOS, CCBE1, LINC01477, NDUFV2, ZADH2, GALR1, LOC121852962, BCL2, TCF4-AS1, MBD2, CCDC178, ZNF236, CYB5A, DSG2-AS1, LOC110120885, MIB1, LOC110121353, LOC110121417, SKOR2, GAREM1, ENOSF1, SERPINB5, RIOK3, LOC112540017, CTDP1, MIR924, LINC01543, SLC66A2, LINC00470, ADNP2, MIR122HG, SIGLEC15, TIMM21, LOC112540014, LOC112543430, RALBP1, LOC101927188, MIR3591, AQP4, CBLN2, TUBB6, MYO5B, CABLES1, LOC110121312, ZNF407, LINC01906, NETO1-DT, TNFRSF11A, LOC105372068, DLGAP1-AS4, SEC11C, LINC01928, TPGS2, LOC110121328, SEH1L, LOC112543429, DSG4, LOC107457587, RMC1, SNORD58C, MC4R, ATP8B1, LOC112543438, DSG3, SERPINB7, ABHD3, LOC112543433, MC5R, C18orf32, LINC00667, LOC121627825, AFG3L2, LOC110120900, ELP2, LINC01899, MIR5583-2, DIPK1C, ZNF519, LINC01924, MEX3C, LOC112543422, FECH, GTSCR1, SNRPD1, SMAD4, LOC121852964, LOC110121357, MIR187, STARD6, SERPINB11, DYM-AS1, LOC121627835, PCAT18, SKA1, LINC01887, LINC01919, LINC00908, LDLRAD4-AS1, SLC35G4, LOC121852969, LIPG, LOC112543421, LINC01544, MPPE1, ZNF407-AS1, LOC111718495, ELOA2, LINC01601, LOC112540015, MIR4744, LOC116276488, MIR8078, HSBP1L1, IMPACT, TXNL4A, LINC00668, SLC25A52, FHOD3, TGIF1, LOC116276489, LOC121852970, MIR1539, LOC110121367, FAM210A, KIAA1328, LINC01905, LOC121627828, GRP, LOC107457597, VPS4B, RPL17-C18orf32, INO80C, EPB41L3, ZSCAN30, LOC107992389, DSG1, SERPINB13, LOC111501775, AKAIN1, LOC112538444, MIR320C1, LOC121627821, LOC121627824, LOC112543424, LOC113939965, RAB27B, TWSG1-DT, PSTPIP2, LOC121627832, LINC01903, LOC116276486, LOC110120866, MIR4528, LOC121852966, LOC339298, DLGAP1-AS2, TUBB8B, SNORD58A, RBBP8, CHMP1B, SLC14A1, LOC112543431, ST8SIA5, ANKRD30B, SMAD7, LOC101927571, RELCH, LINC01925, CPLX4, HMSD, KCTD1, MIR4526, KLHL14, SALL3, LOC121627836, LOC109609705, CDH20, OSBPL1A, TRAPPC8, LINC01908, ARHGAP28-AS1, LINC02565, LINC01541, SNHG22, SERPINB3, LOC121627822, MIR4320, LOC108318665, MIR1-2, LOC110121493, LOC100192426, LINC01415, CEP192, RPRD1A, LAMA1, IMPA2, LOC284240, LINC01538, BOD1L2, MTCL1, LOC642484, LOC116276490, LOC110121398, PMAIP1, MIR133A1HG, DLGAP1, LINC00683, NDUFV2-AS1, LOC112538443, KCNG2, LOC110121329, HRH4
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058718
2.
GRCh37:
Chr18:118760-78012829
GRCh38:
Chr18:118760-80254946
LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30, ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000149674
3.
GRCh37:
Chr18:136226-78014123
GRCh38:
Chr18:136226-80256240
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155151
4.
GRCh37:
Chr18:136227-78014123
GRCh38:
Chr18:136227-80256240
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Aug 13, 2015)
no assertion criteria providedVCV000154106
5.
GRCh37:
Chr18:148763-78010173
GRCh38:
Chr18:148763-80252290
SKA1, SERPINB11, LOC121627840, MOCOS, ASXL3, LOC110121390, ZBTB7C-AS2, CTAGE1, NFATC1, LINC01922, LOC107457597, DOK6, MIR7153, LINC01925, LOC110121440, LOC110120931, PARD6G-AS1, LOC112543433, LOC105372179, DSG1, LOC113939964, KATNAL2, ZNF236, LOC121852962, LINC01539, LINC01906, LINC01254, ADNP2, TRK-CTT6-1, LINC-ROR, ENOSF1, NOL4, CPLX4, SALL3, LOC112543425, AQP4-AS1, MIR3929, LOC110120900, LOC112543434, HRH4, LOC112538445, DYM-AS1, MIR4318, LINC01601, LPIN2, GTSCR1, CYB5A, EPG5, LOC116276486, DSG3, CDH7, ZNF407-AS1, ATP9B, LOC112543429, LINC01898, LOC121852966, CABLES1, LOC111365166, LOC121852963, LOC112577592, MIR3975, SLC14A2-AS1, MAPK4, MIR1539, WDR7-OT1, SMAD7, LINC01929, RNF165, LOC110120953, LINC02837, LOC107457587, LINC01909, SNORD58A, LOC110121318, GALNT1, SLC66A2, LINC01255, MBP, GAPLINC, LOC109609705, TNFRSF11A, MC2R, LOC112543437, LINC02565, PSMA8, LINC01477, MIR4741, POTEC, LOC121627838, LINC01543, ARHGAP28-AS1, MIR6788, LINC01899, DLGAP1-AS3, CDH20, C18orf61, SERPINB2, RNF152, FHOD3, LINC01416, TXNL4A, TMX3, LOC110121423, VPS4B, STARD6, CABYR, ANKRD30B, KCTD1, LINC01896, COLEC12, LINC01910, LOC105371998, RBBP8, LOC121852964, SNORD58C, ELAC1, RPRD1A, LOC112543436, LOC108318665, LOC112540018, LOC121852958, NDUFV2, LOC112540017, LOC121627829, ZNF519, LINC01928, LOC114827855, KDSR, LOC121627833, LOC112543426, TXNDC2, DSG2, SNHG22, CNDP2, MIR133A1, SERPINB8, PIEZO2, INO80C, LINC00668, LOC100505549, SERPINB12, LINC01900, MAPRE2, DSC1, SERPINB5, LOC100192426, SERPINB10, SOCS6, LAMA3, GATA6, GNAL, MIR5583-2, MIR5011, ZNF532, SPIRE1, MIR1-2, LOC110121438, LOC121852970, DCC, MYOM1, LOC110121367, LINC01895, PRELID3A, NPC1, LOC112543420, SERPINB3, SNORD58B, PIGN, PSMG2, SNORA111, LOC121627828, AKAIN1, LDLRAD4-AS1, LOC116276488, RAB27B, LOC121627834, TTR, MEX3C, LINC00683, TCF4, GACAT2, IER3IP1, WDR7, LOC121627821, GREB1L, LINC00908, MIR4319, RIOK3, SERPINB4, LOC121852968, LOC121852961, LOC112538442, SLC39A6, CNDP1, MIR924HG, LOC101927571, MIR4320, RAX, PARD6G, DIPK1C, LINC01029, LOC110121371, LINC00470, LOC110120885, LINC01894, MIB1, CDH19, CCDC178, LOC110120915, LOC110120867, LOC110121312, LINC01892, ZNF521, LOC105372068, SERPINB7, RNMT, TPGS2, LOC110121328, ADCYAP1, LOC110121421, LINC01882, MIR3976, ELP2, COSMOC, LINC01919, LINC01927, GAREM1, PPP4R1-AS1, TWSG1-DT, ZNF397, MIR548AV, LOC112543428, LINC01902, LOC121725015, LOC110121353, TYMSOS, IMPA2, DTNA, LOC121627826, LOC116276490, PIAS2, LOC105372071, METTL4, L3MBTL4-AS1, LOC110121314, TMEM200C, EPB41L3, LOC110121493, MIR5583-1, ANKRD12, ROCK1, CLUL1, LOC110121315, LINC00305, LOC112538444, LINC01908, TWSG1, LOC110120868, LOC110121361, DLGAP1-AS4, LOC114827854, USP14, LOC110121352, CTDP1, DSC2, ZNF396, ZNF516, LINC01912, MC5R, CTIF, LAMA1, MPPE1, RIT2, KCNG2, RPL17, CEP76, LOC121627824, LOC121627825, LINC01415, LOC101927188, MBD2, LOC112543422, LOC108281158, LOC112540015, ST8SIA3, LOC110120920, MIR302F, LOC110120866, MIR320C1, LINC01901, TGIF1, LINC01904, DSEL-AS1, LOC121852969, SYT4, MALT1-AS1, LOC110121420, LMAN1, NEDD4L, ZBTB14, MIR320C2, SS18, LINC01478, RMC1, LOC121627822, HSBP1L1, ATP5F1A, RAB12, LOC112543427, C18orf54, ALPK2, DLGAP1-AS2, ZNF24, L3MBTL4, LINC01541, SNORA37, ACAA2, MIR4317, CCDC102B, TMEM241, PIK3C3, LOC111718495, LINC01443, SCARNA17, OSBPL1A, SMAD4, MEP1B, KLHL14, MIR122HG, PMAIP1, LOC121627827, B4GALT6, LINC01879, C18orf63, C18orf25, LOC105372038, LIPG, SLC25A52, APCDD1, CETN1, TTC39C, LOC112543421, LINC01905, LINC01538, LOC121852965, PSTPIP2, NDC80, CELF4, MYL12-AS1, LOC110121329, DSG1-AS1, SETBP1, LOC112540016, DSEL, LOC121852959, TRAPPC8, CHMP1B, LOC116276492, ABHD3, CEP192, LOC112543423, POLI, YES1, PTPN2, LINC01903, C18orf15, MBD1, LINC01924, FBXO15, MIR8057, TTC39C-AS1, LOC110121330, LOC121627839, MYO5B, LOC112538443, LOC112543431, LOC112543430, LOC121627831, TXNL1, SMCHD1, LINC00907, LDLRAD4, LOC121627830, VAPA, ATP8B1, ESCO1, DYM, LOC110120865, LOC121627841, MIR4744, ANKRD62, LINC02582, LINC01893, PPP4R1, LOC113939965, SLC35G4, LOC112543435, ZNF236-DT, LOC110121313, MIR122, LOC112540014, LINC01915, GRP, HDHD2, LOC110120940, SLC14A1, LOXHD1, RPL17-C18orf32, DSC3, SMAD2, MIR4527, LOC114803473, MRO, CCDC68, LOC107992389, LINC01444, SNORA108, LOC116276487, MC4R, LINC01926, CHST9, DLGAP1-AS5, GALR1, AFG3L2, ELOA2, MIR4529, MYL12A, NETO1, CDH2, NAPG, HMSD, DSCAS, PCAT18, LINC01917, NETO1-DT, SERPINB13, LOC339298, LINC01544, ZNF407, MIR4743, C18orf21, SLC14A2, LOC110120864, MIR4527HG, ANKRD29, SEH1L, MIR6718, DSG2-AS1, LOC110121417, LOC101927410, RBFADN, RAB31, SIGLEC15, MIR5190, LOC116276489, LINC01630, LOC121627836, MIR924, NDUFV2-AS1, TSHZ1, MYL12B, SETBP1-DT, ONECUT2, RELCH, ZBTB7C, LOC112543424, LOC111365201, LINC00667, TUBB6, LOC121627835, KC6, ZSCAN30, LOC105372028, C18orf32, LINC00526, BCL2, CIDEA, SEC11C, LOC110121398, TIMM21, GREB1L-DT, FECH, ZADH2, LOC110120935, MIR4528, BOD1L2, IMPACT, LOC110121394, LOC642484, ARHGAP28, TYMS, TCF4-AS1, LIVAR, LOC111501775, HAUS1, ST8SIA5, ME2, SKOR2, MTCL1, LOC121627823, GATA6-AS1, PTPRM, CTDP1-DT, CXXC1, LOC110121416, LOC112543419, LOC121852967, MIR3976HG, MIR4526, AQP4, MIR3591, CBLN2, SNRPD1, RALBP1, ZNF516-AS1, PHLPP1, DLGAP1-AS1, FAM210A, LINC01387, ZCCHC2, LOC112543432, MALT1, CD226, CFAP53, LOC105372069, NARS1, SMIM21, LOC110121357, TAF4B, THOC1, DSG4, EMILIN2, DLGAP1, LINC01887, LOC121627832, RTTN, MIR133A1HG, LINC02864, ZNF516-DT, LOC116276491, MIR3156-2, LRRC30, RNF125, CCBE1, LOC121852960, LOC284240, DYNAP, RBFA, RNF138, MIR187, KIAA1328
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058723
6.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
DLGAP1-AS4, DLGAP1-AS5, DOK6, LINC01909, LINC01910, LINC01912, LINC01915, LINC01928, LINC01929, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FBXO15, FECH, FHOD3, GACAT2, GALNT1, FAM210A, DSC1, DSG1-AS1, DYM-AS1, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, ADCYAP1, ADNP2, AFG3L2, ABHD3, ACAA2, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160810
7.
GRCh37:
Chr18:148963-78002264
GRCh38:
Chr18:148963-80244381
LOC112543429, LINC01894, LOC110121371, MIR548AV, ST8SIA5, RNF165, SEH1L, LINC01919, LOC121627838, OSBPL1A, LOC121627824, GTSCR1, DCC, ADNP2, LOC112543431, RIOK3, LINC01910, WDR7, SETBP1-DT, LDLRAD4, MIR4318, LOC112543435, HAUS1, SETBP1, LOC112543437, CIDEA, LOC105371998, CNDP1, ELP2, LINC01900, EPB41L3, LOC110121423, DLGAP1-AS5, SKOR2, LINC-ROR, DSEL-AS1, SERPINB7, LOC112543430, LOC121627835, LINC01601, C18orf61, MAPK4, L3MBTL4, ARHGAP28, INO80C, SERPINB5, LOC110121493, NAPG, LOC121627823, SERPINB2, DTNA, FAM210A, LOC101927188, PIEZO2, LOC112540016, LOC121627833, STARD6, ZNF407, SLC39A6, POTEC, LOC105372071, HMSD, TCF4, LOC116276492, LOC110121438, PCAT18, RAB12, SMIM21, SNORA108, MIR122HG, LOC112540015, MIR302F, LOC110121390, TNFRSF11A, LOC116276489, PMAIP1, CHST9, ZNF516-DT, SKA1, LINC02565, MC5R, AFG3L2, MIR6788, LOC109609705, GALNT1, TMX3, LOC114827855, CCDC178, CABYR, LOC121627834, ZNF407-AS1, CXXC1, LINC01444, DSG2-AS1, LINC01927, TRAPPC8, LOC111501775, TIMM21, GAPLINC, LINC02864, LOC108318665, MYO5B, DYM-AS1, SPIRE1, ATP9B, DSEL, LOC121627839, LOC113939965, SMAD4, LOC121627840, RIT2, HSBP1L1, ZSCAN30, ZNF397, ALPK2, LINC02582, MIR4741, MIB1, LOC121852967, APCDD1, SIGLEC15, MIR4319, COLEC12, SS18, DYM, LINC01925, CHMP1B, SALL3, DOK6, PHLPP1, DSCAS, MEP1B, MIR4744, ANKRD12, POLI, ZNF532, LOC105372068, CDH20, RMC1, LOC110120868, TWSG1, LOC112543426, ANKRD29, DSC3, LOC121852960, LINC01254, LOC110121417, CPLX4, ZNF236-DT, GRP, MBP, ZNF396, NDC80, SNORD58A, RALBP1, SLC14A2, MIR5011, LOC112543424, PIK3C3, NETO1-DT, LINC01416, LOC112543420, LOC112538444, THOC1, TGIF1, LINC00683, HRH4, ADCYAP1, LINC01899, LPIN2, LINC00470, DSG1-AS1, MIR4743, MIR6718, LINC01929, GALR1, IMPA2, LOC339298, MIR320C2, LOC121627828, LOC121852962, MALT1-AS1, LOC112543421, LIPG, NPC1, ST8SIA3, LOC116276488, LINC01538, FBXO15, LOC110120915, LOC110120920, LINC00907, NOL4, ARHGAP28-AS1, LOC112538445, LOC112543428, ASXL3, MAPRE2, DLGAP1-AS4, CCDC68, L3MBTL4-AS1, TUBB6, LINC01908, MIR8057, LOC121852964, CTDP1, ACAA2, BCL2, PIGN, C18orf15, LOC107992389, CCBE1, DYNAP, RNF152, LINC01882, LOC110120931, MIR4526, LOC111718495, PRELID3A, METTL4, DSG1, LOC112543436, TRK-CTT6-1, LINC01924, LOC121627827, TYMSOS, SMAD7, LOC110121394, RBBP8, LINC01255, MIR133A1HG, ELOA2, SMCHD1, ME2, RPL17, AQP4, CEP76, ESCO1, SERPINB8, CTIF, ONECUT2, MYL12A, LRRC30, LOC108281158, LINC01893, NDUFV2, MIR4527, LINC01917, PTPN2, CTAGE1, SLC14A2-AS1, PIAS2, LAMA3, LINC01912, LOC121627836, EMILIN2, ROCK1, LOC121627829, LOC112540014, LOC113939964, LOC114803473, LINC01898, HDHD2, MIR924HG, MIR7153, LAMA1, LOC110120866, LINC01903, SMAD2, LOC121852966, RTTN, RBFA, C18orf63, LOC112543432, SLC14A1, VAPA, LINC01630, LOC110121420, ZNF24, SCARNA17, LOC112577592, BOD1L2, SNORA37, LOC121627826, NETO1, SERPINB10, LOC121725015, MPPE1, LOC110121353, ZBTB7C, PARD6G, LINC00667, MRO, DSG3, RNF125, CDH2, LINC01896, LINC01387, LOC116276491, KATNAL2, TXNL1, LOC121852958, DSC1, KDSR, MIR5583-1, LOC110121329, MIR133A1, TXNDC2, RAX, LOC110120953, LINC01539, LOC112543434, LINC01478, LOC100192426, MIR5583-2, SEC11C, LOC112543423, LOC116276486, SNORD58B, MIR3591, LINC01543, MIR187, YES1, KC6, MIR4527HG, MC2R, LOC121852969, LINC01443, RAB31, PPP4R1, GAREM1, DLGAP1, WDR7-OT1, LINC01477, IMPACT, LIVAR, TWSG1-DT, SERPINB12, MALT1, RBFADN, MIR4317, LOC110120900, LOC110121352, MIR4320, LOC110121330, GATA6, MIR3976, LOC121627822, ZNF236, LOC110121313, LOC110120885, ELAC1, PARD6G-AS1, MYL12B, LOC121627825, RNF138, ZADH2, VPS4B, MOCOS, ZNF516-AS1, MIR3976HG, CETN1, LOC112543433, DIPK1C, CBLN2, LINC01901, LOC284240, LOC110121361, LOC110121314, CLUL1, B4GALT6, PSMG2, AQP4-AS1, MIR1-2, ZBTB14, MYOM1, C18orf54, LOC110121367, LOXHD1, LOC121627831, TYMS, LINC00668, LOC642484, LOC100505549, LINC00908, GREB1L-DT, ZNF516, TTC39C-AS1, MIR5190, MC4R, CCDC102B, LOC112538442, ANKRD30B, DSG2, CDH19, LOC112540017, ZNF521, MIR924, NFATC1, LINC01879, PSMA8, SERPINB11, CTDP1-DT, LOC121852968, CD226, KIAA1328, LOC105372028, LINC01926, LOC111365201, RAB27B, LOC112543422, LINC00526, SNHG22, LMAN1, GREB1L, LOC101927571, LOC110121312, LOC110120865, SNRPD1, LINC01902, LINC01892, PTPRM, MIR122, AKAIN1, LOC112543419, LOC111365166, LOC110121357, GACAT2, TAF4B, LINC01887, LINC01029, LOC105372069, LINC01541, LOC112538443, C18orf25, RELCH, LOC110121398, SLC25A52, CABLES1, LOC121627821, LOC121627841, LINC00305, LOC114827854, LOC105372038, NARS1, NDUFV2-AS1, MYL12-AS1, RNMT, MIR3929, LOC110120935, ABHD3, SERPINB4, MBD2, TCF4-AS1, SERPINB13, DLGAP1-AS3, LOC116276487, LOC110121328, LOC121627832, LINC01928, C18orf32, SLC35G4, USP14, LINC01904, MIR320C1, NEDD4L, LOC107457597, TXNL4A, EPG5, LDLRAD4-AS1, ZNF519, CNDP2, LOC112543425, CEP192, MIR4528, LINC01544, GNAL, IER3IP1, LOC110121416, LOC121852965, CFAP53, PPP4R1-AS1, LOC110121421, SERPINB3, LOC110120940, LINC02837, MTCL1, PSTPIP2, COSMOC, GATA6-AS1, LOC116276490, LINC01906, FECH, LOC110121318, LINC01922, LOC112543427, RPL17-C18orf32, CYB5A, LINC01909, MIR4529, LOC101927410, LOC110121440, MBD1, LOC110120867, LINC01895, LOC121852959, SOCS6, LINC01905, DSC2, LOC121627830, ZCCHC2, SLC66A2, LINC01915, CDH7, CELF4, LINC01415, ANKRD62, SNORD58C, RPRD1A, LOC121852961, ATP5F1A, LOC121852963, LOC110121315, DLGAP1-AS2, ZBTB7C-AS2, TSHZ1, TTR, MIR3975, LOC112540018, FHOD3, TPGS2, MIR1539, LOC105372179, TMEM241, KLHL14, MIR3156-2, TMEM200C, KCTD1, DSG4, LOC110120864, LOC107457587, SNORA111, KCNG2, TTC39C, ATP8B1, ENOSF1, LOC121852970, SYT4, MEX3C, DLGAP1-AS1, C18orf21
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058729
8.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Jan 27, 2011)
no assertion criteria providedVCV000033085
9.
GRCh37:
Chr18:149089-78012819
GRCh38:
Chr18:149089-80254936
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150559
10.
GRCh37:
Chr18:149089-77992274
GRCh38:
Chr18:149089-80234391
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf15, C18orf21, C18orf25, C18orf32, C18orf54, C18orf61, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DLGAP1-AS1, DLGAP1-AS2, DLGAP1-AS3, DLGAP1-AS4, DLGAP1-AS5, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GACAT2, GALNT1, GALR1, GAPLINC, GAREM1, GATA6, GATA6-AS1, GNAL, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00667, LINC00668, LINC00683, LINC00907, LINC00908, LINC01029, LINC01254, LINC01255, LINC01387, LINC01415, LINC01416, LINC01443, LINC01444, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01882, LINC01887, LINC01892, LINC01893, LINC01894, LINC01895, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01904, LINC01905, LINC01906, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, LOC100505549, LOC101927188, LOC101927410, LOC101927571, LOC105371998, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421, LOC112543422, LOC112543423, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543431, LOC112543432, LOC112543433, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC116276490, LOC116276491, LOC116276492, LOC121627821, LOC121627822, LOC121627823, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121725015, LOC121852958, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC284240, LOC339298, LOC642484, LOXHD1, LPIN2, LRRC30, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR3156-2, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR3976, MIR3976HG, MIR4317, MIR4318, MIR4319, MIR4320, MIR4526, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR5190, MIR548AV, MIR5583-1, MIR5583-2, MIR6718, MIR6788, MIR7153, MIR8057, MIR924, MIR924HG, MOCOS, MPPE1, MRO, MTCL1, MYL12-AS1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NDUFV2-AS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PPP4R1-AS1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZADH2, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Jun 30, 2010)
no assertion criteria providedVCV000144654
11.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620