S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 47

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:28648139
GRCh38:
Chr18:31068173
DSC2not providedLikely pathogenic
(Apr 15, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr18:28648881
GRCh38:
Chr18:31068915
DSC2not providedPathogenic
(Jul 6, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr18:28648998-28649000
GRCh38:
Chr18:31069032-31069034
DSC2Arrhythmogenic right ventricular cardiomyopathy, type 11, Arrhythmogenic right ventricular cardiomyopathy, not specified,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 4, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr18:28650690
GRCh38:
Chr18:31070724
DSC2not providedPathogenic
(Jun 26, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr18:28651570
GRCh38:
Chr18:31071604
DSC2not providedLikely pathogenic
(Apr 13, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr18:28651758
GRCh38:
Chr18:31071792
DSC2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(May 30, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr18:28654696
GRCh38:
Chr18:31074730
DSC2Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hairPathogenic
(Jan 1, 2009)
no assertion criteria provided
8.
GRCh37:
Chr18:28659816
GRCh38:
Chr18:31079850
DSC2not provided, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMAPathogenic
(Nov 8, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr18:28659840-28659841
GRCh38:
Chr18:31079874-31079875
DSC2not providedLikely pathogenic
(Aug 31, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr18:28659956
GRCh38:
Chr18:31079990
DSC2Cardiovascular phenotypeLikely pathogenic
(Sep 10, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr18:28660152
GRCh38:
Chr18:31080186
DSC2Arrhythmogenic right ventricular cardiomyopathy, type 11Pathogenic
(Nov 1, 2006)
no assertion criteria provided
12.
GRCh37:
Chr18:28662344
GRCh38:
Chr18:31082378
DSC2not providedLikely pathogenic
(Sep 2, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr18:28662890
GRCh38:
Chr18:31082924
DSC2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Aug 15, 2008)
no assertion criteria provided
14.
GRCh37:
Chr18:28663027
GRCh38:
Chr18:31083061
DSC2not providedLikely pathogenic
(Apr 3, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr18:28666599
GRCh38:
Chr18:31086636
DSC2Arrhythmogenic right ventricular cardiomyopathy, type 11Pathogenic
(Aug 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr18:28666635
GRCh38:
Chr18:31086672
DSC2Arrhythmogenic right ventricular cardiomyopathy, not providedPathogenic/Likely pathogenic
(Jul 20, 2012)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr18:28666646
GRCh38:
Chr18:31086683
DSC2Cardiomyopathy, not providedConflicting interpretations of pathogenicity
(Jun 24, 2013)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr18:28666657
GRCh38:
Chr18:31086694
DSC2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Sep 14, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr18:28667744
GRCh38:
Chr18:31087781
DSC2Arrhythmogenic right ventricular cardiomyopathy, type 11, Arrhythmogenic right ventricular cardiomyopathy, not provided
Pathogenic/Likely pathogenic
(Aug 24, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr18:28667778
GRCh38:
Chr18:31087815
DSC2Arrhythmogenic right ventricular cardiomyopathy, type 11, Arrhythmogenic right ventricular cardiomyopathy, not provided
Pathogenic/Likely pathogenic
(Aug 8, 2014)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr18:28669424
GRCh38:
Chr18:31089461
DSC2not providedLikely pathogenic
(Apr 27, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr18:28670992
GRCh38:
Chr18:31091029
DSC2not providedLikely pathogenic
(Nov 21, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr18:28673521
GRCh38:
Chr18:31093558
DSC2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(May 27, 2009)
no assertion criteria provided
24.
GRCh37:
Chr18:28673575
GRCh38:
Chr18:31093612
DSC2not providedLikely pathogenic
(Mar 13, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr18:28673580
GRCh38:
Chr18:31093617
DSC2Arrhythmogenic right ventricular cardiomyopathyLikely pathogenic
(Mar 12, 2009)
no assertion criteria provided
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
35.
GRCh37:
Chr18:18529339-31943419
GRCh38:
Chr18:20949378-34363455
See casesPathogenic
(Apr 16, 2013)
no assertion criteria provided
36.
GRCh37:
Chr18:26945022-28816268
GRCh38:
Chr18:29365057-31236305
DSC1, DSC2, DSC3, MIR302F, DSCASSee casesPathogenic
(Feb 25, 2013)
no assertion criteria provided
37.
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
38.
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
39.
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
40.
GRCh37:
Chr18:26829167-63115353
GRCh38:
Chr18:29249202-65448117
ATP5A1, BCL2, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALNT1, GRP, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MC4R, ME2, MEP1B, MYO5B, NARS, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RIT2, RPL17, SERPINB3, SERPINB4, SLC14A1, SYT4, TCF4, TTR, ZNF24, SLC14A2, SERPINB7, NOL4, TNFRSF11A, MBD2, PSTPIP2, PIAS2, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, CTIF, ACAA2, ZNF271P, MALT1, MAPRE2, POLI, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, TPGS2, SETBP1, SNORD58B, SNORD58A, CDH20, ST8SIA5, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, ELAC1, CELF4, KIAA1328, KLHL14, KIAA1468, EPG5, GAREM1, FHOD3, CCDC68, ASXL3, KATNAL2, C18orf21, MRO, HDHD2, ZNF397, C18orf12, SERPINB12, SERPINB11, SEC11C, HAUS1, ALPK2, LOXHD1, INO80C, STARD6, C18orf25, CCBE1, SLC25A52, DSG4, C18orf54, TCEB3C, ZBTB7C, SKA1, CFAP53, RNF152, LINC00305, ZNF396, DYNAP, BOD1L2, LINC00907, SIGLEC15, HMSD, LINC01924, CPLX4, CCDC178, LINC01538, MIR122, MIR187, RNF165, C18orf32, KC6, MIR924HG, SKOR2, SCARNA17, SNORA37, ELOA3B, ZSCAN30, SNORD58C, MIR924, LOC100129878, LINC01415, TRK-CTT6-1, LINC01630, MIR302F, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, ELOA3D, RPL17-C18orf32, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5583-1, LINC-ROR, LINC01544, LINC01929, LINC01416, LOC101927322, DSCAS, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LINC01917, LINC01919, LINC01905, SNHG22, LOC105372068, LOC105372069, LOC105372071, TCF4-AS1, LINC01926, LINC01601, SNORA108, SNORA111
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
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
42.
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
43.
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
44.
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,