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Results: 38

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GATA6Persistent truncus arteriosusPathogenic
(Dec 10, 2012)
no assertion criteria provided
2.
GRCh37:
Chr18:19751148
GRCh38:
Chr18:22171187
GATA6not specifiedGO-ESP:0.02131(C)
GMAF:0.03350(C)
Benign
(Mar 5, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr18:19751638
GRCh38:
Chr18:22171677
GATA6Atrioventricular septal defect 5GMAF:0.00080(T)Pathogenic
(Dec 10, 2012)
no assertion criteria provided
4.
GRCh37:
Chr18:19751656
GRCh38:
Chr18:22171695
GATA6Tetralogy of Fallot, Atrial septal defect 9GMAF:0.00100(A)Pathogenic
(Dec 10, 2012)
no assertion criteria provided
5.
GRCh37:
Chr18:19751697
GRCh38:
Chr18:22171736
GATA6Tetralogy of FallotPathogenic
(Dec 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr18:19751817
GRCh38:
Chr18:22171856
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
7.
GRCh37:
Chr18:19751956
GRCh38:
Chr18:22171995
GATA6not specifiedGMAF:0.03060(G)Likely benignno assertion criteria provided
8.
GRCh37:
Chr18:19752073-19752075
GRCh38:
Chr18:22172112-22172114
GATA6Persistent truncus arteriosusBenign
(Nov 4, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr18:19752177
GRCh38:
Chr18:22172216
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
10.
GRCh37:
Chr18:19761465
GRCh38:
Chr18:22181504
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
11.
GRCh37:
Chr18:19761477
GRCh38:
Chr18:22181516
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
12.
GRCh37:
Chr18:19761478
GRCh38:
Chr18:22181517
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
13.
GRCh37:
Chr18:19761507
GRCh38:
Chr18:22181546
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
14.
GRCh37:
Chr18:19761507
GRCh38:
Chr18:22181546
GATA6Persistent truncus arteriosusPathogenic
(Dec 10, 2012)
no assertion criteria provided
15.
GRCh37:
Chr18:19761510
GRCh38:
Chr18:22181549
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
16.
GRCh37:
Chr18:19762737-19762744
GRCh38:
Chr18:22182776-22182783
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
17.
GRCh37:
Chr18:19762793-19762794
GRCh38:
Chr18:22182832-22182833
GATA6Pancreatic agenesis and congenital heart diseasePathogenic
(Sep 17, 2014)
no assertion criteria provided
18.
GRCh37:
Chr18:19763011
GRCh38:
Chr18:22183050
GATA6not specifiedGO-ESP:0.21675(G)
GMAF:0.22400(G)
Likely benignno assertion criteria provided
19.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
20.
GRCh37:
Chr18:13340111-20989843
GRCh38:
Chr18:13340112-23409879
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
21.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Apr 9, 2013)
no assertion criteria provided
22.
GRCh37:
Chr18:8779841-22265343
GRCh38:
Chr18:8779843-24685379
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
23.
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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, , KLHL14, , EPG5, HRH4, CTAGE1, GAREM, 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, LOC284294, CPLX4, CCDC178, LINC01538, LOC400655, LINC00909, MIR1-2, MIR122, MIR133A1, MIR187, RNF165, C18orf32, KC6, LOC643542, C18orf63, LINC00669, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01415, TRK-CTT6-1, LOC100287225, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505817, LINC01543, TCEB3CL2, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LOC101060542, LOC101927229, LINC01416, LOC101927322, LOC101927481, LOC101927571, LOC101927606, DSCAS, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
24.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
25.
GRCh37:
Chr18:18521285-37940584
GRCh38:
Chr18:20941324-40360620
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
26.
GRCh37:
Chr18:18529339-31943419
GRCh38:
Chr18:20949378-34363455
See casesPathogenic
(Apr 16, 2013)
no assertion criteria provided
27.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
28.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesconflicting data from submitters
(Jan 9, 2013)
no assertion criteria provided
29.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
30.
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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, , KLHL14, , EPG5, HRH4, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LOC339298, CPLX4, CCDC178, ATP9B, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, KC6, LOC643542, C18orf63, LINC00669, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100287225, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LOC101060542, LOC101927229, LINC01416, LOC101927322, LOC101927481, LOC101927571, LOC101927606, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
31.
GRCh37:
Chr18:18544687-22517638
GRCh38:
Chr18:20964726-24937674
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
32.
GRCh37:
Chr18:18544687-22623421
GRCh38:
Chr18:20964726-25043457
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
33.
GRCh37:
Chr18:18540281-26181841
GRCh38:
Chr18:20960320-28601877
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
34.
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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, , KLHL14, , EPG5, HRH4, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LOC339298, CPLX4, CCDC178, ATP9B, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, C18orf32, KC6, LOC643542, C18orf63, LINC00669, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100287225, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4318, MIR4320, MIR3929, LINC01539, LOC100505549, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, RPL17-C18orf32, MIR4741, MIR4528, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR548AV, RNU6-39P, LINC-ROR, LINC01544, LOC101060542, LOC101927229, LINC01416, LOC101927322, LOC101927481, LOC101927571, LOC101927606, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
35.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
36.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
37.
GRCh37:
Chr18:53345-77967869
GRCh38:
Chr18:53345-80209986
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR8078, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
38.
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, SLMO1, 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, TCEB3B, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, , KLHL14, , EPG5, HRH4, PIEZO2, CTAGE1, GAREM, 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, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LOC284294, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LOC400661, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, C18orf42, LOC643542, C18orf63, MIR3976HG, TMEM200C, , LINC00669, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, TCEB3CL, LOC729950, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, PARD6G-AS1, LOC100131655, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LOC100287225, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505817, RBFADN, LINC01543, TCEB3CL2, 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, LOC100996324, LINC01544, LOC101060542, DLGAP1-AS4, L3MBTL4-AS1, LOC101927188, LOC101927229, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01255, LOC101927481, LOC101927571, LOC101927606, LINC01444, LOC101927651, DSCAS, LINC01029, DSG1-AS1, LINC01477, LINC01478, SLC14A2-AS1, LOC101928167, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, TTC39C-AS1, LOC102724651, LOC102724913, LOC104968399
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided

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