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Items: 26

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:136226-78014123
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, LAMA1, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, LRRC30, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf32, AKAIN1, C18orf63, TMEM200C, SLC35G4, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenicno assertion criteria provided
2.
GRCh37:
Chr18:163323-78005185
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, LAMA1, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, LRRC30, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf32, AKAIN1, C18orf63, TMEM200C, SLC35G4, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenicno assertion criteria provided
3.
GRCh37:
Chr18:12254327-23262749
See casesPathogenicno assertion criteria provided
4.
GRCh37:
Chr18:21430733-22265398
LAMA3, CABYR, IMPACT, HRH4, OSBPL1A, TTC39CSee casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr18:18548019-77954165
AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, NETO1, KATNAL2, CHST9, C18orf21, MRO, HDHD2, ZNF397, PARD6G, CNDP1, TMEM241, SERPINB12, SERPINB11, SEC11C, CABLES1, DSEL, ESCO1, OSBPL1A, HAUS1, ALPK2, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, C18orf54, TCEB3C, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, CPLX4, CCDC178, ATP9B, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, C18orf63, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr18:163323-78005236
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, FHOD3, CCDC68, ASXL3, COLEC12, NETO1, SEH1L, KATNAL2, CHST9, C18orf21, MRO, EMILIN2, HDHD2, TXNDC2, ZNF397, PARD6G, TUBB6, CNDP1, DLGAP1-AS2, TMEM241, SERPINB12, SERPINB11, SEC11C, L3MBTL4, CABLES1, DSEL, MYL12B, ESCO1, OSBPL1A, HAUS1, ALPK2, FAM210A, LOXHD1, INO80C, TTC39C, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, ZBTB7C, SKA1, CFAP53, DOK6, RNF152, ZNF396, LAMA1, KCTD1, DYNAP, BOD1L2, SIGLEC15, ZADH2, SMIM21, HMSD, LRRC30, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf32, AKAIN1, C18orf63, TMEM200C, SLC35G4, SKOR2, ELOA3B, ZSCAN30, LINC01415, ELOA3D, RPL17-C18orf32, LINC-ROR
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr18:136226-78014123
GRCh38:
Chr18:136226-80256240
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Apr 9, 2013)
no assertion criteria provided
9.
GRCh37:
Chr18:8779841-22265343
GRCh38:
Chr18:8779843-24685379
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
10.
GRCh37:
Chr18:18542080-72403402
GRCh38:
Chr18:20962119-74691446
AQP4, ATP5A1, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MC4R, ME2, MEP1B, MYO5B, 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, ZNF271P, MALT1, MAPRE2, POLI, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, CABYR, SNORD58B, SNORD58A, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, KIAA1468, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, TCEB3C, 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, 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, LOC100505817, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, DSCAS, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
11.
GRCh37:
Chr18:136227-78014123
GRCh38:
Chr18:136227-80256240
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
12.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
13.
GRCh37:
Chr18:18529339-31943419
GRCh38:
Chr18:20949378-34363455
See casesPathogenic
(Apr 16, 2013)
no assertion criteria provided
14.
GRCh37:
Chr18:149089-78012819
GRCh38:
Chr18:149089-80254936
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
15.
GRCh37:
Chr18:118760-78012829
GRCh38:
Chr18:118760-80254946
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
16.
GRCh37:
Chr18:149089-77992274
GRCh38:
Chr18:149089-80234391
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
17.
GRCh37:
Chr18:21991957-24208087
GRCh38:
Chr18:24411993-26628123
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr18:18569723-77967869
GRCh38:
Chr18:20989762-80209986
AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, TCEB3C, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, 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, LOC643542, C18orf63, LINC01896, MIR924HG, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505797, LOC100505817, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr18:18544687-22517638
GRCh38:
Chr18:20964726-24937674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr18:18544687-22623421
GRCh38:
Chr18:20964726-25043457
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr18:18540281-26181841
GRCh38:
Chr18:20960320-28601877
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr18:18540281-77992312
GRCh38:
Chr18:20960320-80234429
AQP4, ATP5A1, 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, ZNF271P, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, C18orf8, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, KIAA1468, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, C18orf54, TCEB3C, ABHD3, FBXO15, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, 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, LOC643542, C18orf63, LINC01896, MIR924HG, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505797, LOC100505817, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LINC01910, LINC01929, LINC01416, LOC101927322, LINC01903, LINC01909, LOC101927571, LINC01922, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC01917, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr18:148963-78002264
GRCh38:
Chr18:148963-80244381
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, 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, 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, TCF4-AS1, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr18:148763-78010173
GRCh38:
Chr18:148763-80252290
ADCYAP1, AQP4, ATP5A1, 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, ZNF271P, 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, C18orf8, 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, KIAA1468, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, PQLC1, 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, FAM69C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, TCEB3C, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, 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, 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, LOC100131655, 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, LOC100505817, 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, RNU6-39P, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571,