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Items: 18

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
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, ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, MC5R, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160810
2.
GRCh37:
Chr18:136226-78014123
GRCh38:
Chr18:136226-80256240
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, IMPA2, DSG2, DSG3, DTNA, FECH, KDSR, LAMA3, GALR1, GALNT1, GATA6, GNAL, GRP, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155151
3.
GRCh37:
Chr18:8779841-22265343
GRCh38:
Chr18:8779843-24685379
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000155008
4.
GRCh37:
Chr18:18542080-72403402
GRCh38:
Chr18:20962119-74691446
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, MYO5B, DSG2, DSG3, DTNA, FECH, KDSR, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MC4R, ME2, MEP1B, NARS, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, CTIF, ACAA2, CD226, MALT1, MAPRE2, POLI, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, CABYR, SNORD58B, SNORD58A, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, GREB1L, FHOD3, CCDC68, ASXL3, NETO1, KATNAL2, CHST9, C18orf21, MRO, HDHD2, ZNF397, C18orf12, CNDP1, TMEM241, SERPINB12, SERPINB11, SEC11C, CABLES1, DSEL, ESCO1, OSBPL1A, HAUS1, ALPK2, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, ELOA3, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, HMSD, LINC01924, CPLX4, CCDC178, LINC01538, LOC400655, LINC00909, MIR1-2, MIR122, MIR133A1, MIR187, RNF165, C18orf32, KC6, LOC642484, LOC643542, C18orf63, MIR924HG, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505797, LINC02582, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, DSCAS, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LINC02837, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, LOC107992389, LOC108281158, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120920, LOC110120940, LOC110120953, LOC110121313, LOC110121315, LOC110121328, LOC110121329, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121493, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538444, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112543421, LOC112543422, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543432, LOC112543433, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154990
5.
GRCh37:
Chr18:136227-78014123
GRCh38:
Chr18:136227-80256240
RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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, ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, IMPA2, GALR1, GALNT1, GATA6, GNAL, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15
See casesPathogenic
(Aug 13, 2015)
no assertion criteria providedVCV000154106
6.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000154073
7.
GRCh37:
Chr18:18529339-31943419
GRCh38:
Chr18:20949378-34363455
See casesPathogenic
(Apr 16, 2013)
no assertion criteria providedVCV000153150
8.
GRCh37:
Chr18:149089-78012819
GRCh38:
Chr18:149089-80254936
SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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, ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, MC2R, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150559
9.
GRCh37:
Chr18:118760-78012829
GRCh38:
Chr18:118760-80254946
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, IMPA2, GALR1, GALNT1, GATA6, GNAL, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000149674
10.
GRCh37:
Chr18:149089-77992274
GRCh38:
Chr18:149089-80234391
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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
See casesPathogenic
(Jun 30, 2010)
no assertion criteria providedVCV000144654
11.
GRCh37:
Chr18:18569723-77967869
GRCh38:
Chr18:20989762-80209986
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, ME2, MEP1B, MYO5B, NARS, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, CTDP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, CTIF, TSHZ1, ACAA2, CD226, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, NETO1, KATNAL2, CHST9, C18orf21, MRO, HDHD2, ZNF397, C18orf12, PARD6G, CNDP1, TMEM241, SERPINB12, SERPINB11, SEC11C, CABLES1, DSEL, ESCO1, OSBPL1A, HAUS1, ALPK2, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, ELOA3, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LOC339298, CPLX4, CCDC178, ATP9B, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, KC6, LOC642484, LOC643542, C18orf63, LINC01896, MIR924HG, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, LOC107992389, LOC108281158, 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, LOC110121493, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538444, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112543421, LOC112543422, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543432, LOC112543433, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058762
12.
GRCh37:
Chr18:18544687-22517638
GRCh38:
Chr18:20964726-24937674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058761
13.
GRCh37:
Chr18:18540281-26181841
GRCh38:
Chr18:20960320-28601877
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058758
14.
GRCh37:
Chr18:18540281-77992312
GRCh38:
Chr18:20960320-80234429
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, ME2, MEP1B, MYO5B, NARS, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, CTDP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, CTIF, TSHZ1, ACAA2, CD226, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, NETO1, KATNAL2, CHST9, C18orf21, MRO, HDHD2, ZNF397, C18orf12, PARD6G, CNDP1, TMEM241, SERPINB12, SERPINB11, SEC11C, CABLES1, DSEL, ESCO1, OSBPL1A, HAUS1, ALPK2, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, ELOA3, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LOC339298, CPLX4, CCDC178, ATP9B, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, KC6, LOC642484, LOC643542, C18orf63, LINC01896, MIR924HG, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, LOC107992389, LOC108281158, 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, LOC110121493, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538444, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112543421, LOC112543422, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543432, LOC112543433, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058756
15.
GRCh37:
Chr18:148963-78002264
GRCh38:
Chr18:148963-80244381
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, IMPA2, GALR1, GALNT1, GATA6, GNAL, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058729
16.
GRCh37:
Chr18:148763-78010173
GRCh38:
Chr18:148763-80252290
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, MC2R, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, SLC66A2, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, C18orf12, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC02837, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, 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, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538442, LOC112538443, LOC112538444, LOC112538445, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112540018, LOC112543419, LOC112543420, LOC112543421,