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Items: 1 to 100 of 120

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:53345-77967869
GRCh38:
Chr18:53345-80209986
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, 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, LOC112543438, 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, LOC124904333, 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, MIR8078, 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, PTGR3, 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, TUBB8B, TWSG1, TWSG1-DT, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, WDR7-OT1, YES1, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr18:118760-78012829
GRCh38:
Chr18:118760-80254946
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP8B1-AS1, 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, 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, LOC124904333, 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, PTGR3, 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, SNORA111, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
3.
GRCh37:
Chr18:136226-78014123
GRCh38:
Chr18:136226-80256240
LINC01924, LINC01925, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, 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, LOC124904333, 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, PTGR3, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
4.
GRCh37:
Chr18:136227-78014123
GRCh38:
Chr18:136227-80256240
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, 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, LOC124904333, 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, PTGR3, 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, SNORA111, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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
See casesPathogenic
(Aug 13, 2015)
no assertion criteria provided
5.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
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, PTGR3, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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, 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, LOC124904333, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr18:148963-78002264
GRCh38:
Chr18:148963-80244381
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, AQP4-AS1, ARHGAP28, ARHGAP28-AS1, ASXL3, ATP5F1A, ATP8B1, ATP8B1-AS1, 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, 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, LOC124904333, 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, PTGR3, 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, TNFRSF11A, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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, ATP8B1-AS1, 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, 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, LOC124904333, 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, PTGR3, 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, TNFRSF11A, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF519, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
8.
GRCh37:
Chr18:149089-78012819
GRCh38:
Chr18:149089-80254936
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, LOC124904333, 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, PTGR3, 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, TNFRSF11A, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
9.
GRCh37:
Chr18:149089-77992274
GRCh38:
Chr18:149089-80234391
KCNG2, KCTD1, KDSR, LINC01254, LINC01630, LINC01905, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01925, LINC01906, LINC01908, LINC01904, LINC01879, LINC01882, LINC01887, LINC01893, LINC01894, LINC01898, LINC01892, LINC01895, LINC01896, LINC01416, LINC01443, LINC01477, LINC01478, LINC01538, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01255, LINC01444, LINC01539, LINC01541, LINC-ROR, LINC00305, LINC00470, LINC00526, LINC00907, LINC00908, LINC01029, LINC01543, LINC01544, LINC01601, LINC01387, LINC01415, KIAA1328, KLHL14, L3MBTL4, L3MBTL4-AS1, LAMA1, LAMA3, LDLRAD4, LDLRAD4-AS1, LINC00667, LINC00668, LINC00683, LINC01926, LINC01927, LINC01928, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC100192426, 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, LOC124904333, 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, PTGR3, 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, SNORA111, SMAD4, SMAD7, SMCHD1, SMIM21, SNHG22, SNORA108, 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, ZBTB14, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, 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, ATP8B1-AS1, 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
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
10.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
11.
GRCh37:
Chr18:18529339-31943419
GRCh38:
Chr18:20949378-34363455
See casesPathogenic
(Apr 16, 2013)
no assertion criteria provided
12.
GRCh37:
Chr18:18540281-77992312
GRCh38:
Chr18:20960320-80234429
ABHD3, ACAA2, ADNP2, ALPK2, ANKRD29, AQP4, AQP4-AS1, ASXL3, ATP5F1A, ATP8B1, ATP8B1-AS1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf21, C18orf25, C18orf32, C18orf54, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CFAP53, CHST9, CNDP1, CNDP2, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSEL-AS1, DSG1, DSG1-AS1, DSG2, DSG2-AS1, DSG3, DSG4, DTNA, DYM, DYM-AS1, DYNAP, ELAC1, ELOA2, ELP2, EPG5, ESCO1, FBXO15, FECH, FHOD3, GALNT1, GALR1, GAREM1, GATA6, GATA6-AS1, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, LAMA3, LINC-ROR, LINC00305, LINC00683, LINC00907, LINC00908, LINC01029, LINC01415, LINC01416, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01893, LINC01894, LINC01896, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01905, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01917, LINC01919, LINC01922, LINC01924, LINC01926, LINC01927, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LIPG, LIVAR, LMAN1, LOC101927571, LOC105372028, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LOC105372179, LOC107457587, LOC107457597, 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, 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, LOC116276490, LOC116276491, LOC116276492, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC124904333, LOC284240, LOC339298, LOC642484, LOXHD1, MALT1, MALT1-AS1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC4R, ME2, MEP1B, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR4318, MIR4319, MIR4320, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR548AV, MIR5583-1, MIR5583-2, MIR8057, MIR924, MIR924HG, MOCOS, MRO, MYO5B, NARS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PARD6G-AS1, PCAT18, PHLPP1, PIAS2, PIGN, PIK3C3, PMAIP1, POLI, PSMA8, PSTPIP2, PTGR3, RAB27B, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNF165, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC14A2-AS1, SLC25A52, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TCF4-AS1, TIMM21, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTC39C-AS1, TTR, TXNL1, TXNL4A, VPS4B, WDR7, WDR7-OT1, ZBTB7C, ZBTB7C-AS2, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ZNF521, ZNF532, ZSCAN30
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr18:18542080-72403402
GRCh38:
Chr18:20962119-74691446