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Items: 1 to 100 of 119

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:73376178-78077248
Burn-McKeown syndromePathogenic
(Mar 28, 2016)
no assertion criteria provided
2.
GRCh37:
Chr18:77748581-77748614
Chr18:73376178-78077248
GRCh38:
Chr18:79988581-79988614
Burn-McKeown syndromePathogenic
(Dec 2, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr18:46942427-78014123
not providedPathogenic
(Sep 14, 2017)
no assertion criteria provided
4.
GRCh37:
Chr18:55298900-78014123
not providedPathogenic
(Feb 2, 2018)
no assertion criteria provided
5.
GRCh37:
Chr18:56905884-78014123
not providedPathogenic
(Jan 18, 2018)
no assertion criteria provided
6.
GRCh37:
Chr18:60416709-78014123
not providedPathogenic
(Nov 9, 2017)
no assertion criteria provided
7.
GRCh37:
Chr18:64610595-78014123
not providedPathogenic
(May 1, 2018)
no assertion criteria provided
8.
GRCh37:
Chr18:64764747-78014123
not providedPathogenic
(Feb 14, 2018)
no assertion criteria provided
9.
GRCh37:
Chr18:67082104-78014123
not providedPathogenic
(Sep 19, 2017)
no assertion criteria provided
10.
GRCh37:
Chr18:69968033-78014123
not providedPathogenic
(May 8, 2018)
no assertion criteria provided
11.
GRCh37:
Chr18:73214538-78014123
not providedPathogenic
(Mar 1, 2018)
no assertion criteria provided
12.
GRCh37:
Chr18:74472294-78014123
not providedPathogenic
(Jul 26, 2017)
no assertion criteria provided
13.
GRCh37:
Chr18:61802304-78015180
See casesPathogenic
(May 2, 2017)
no assertion criteria provided
14.
GRCh37:
Chr18:136227-78014123
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, ELOA3, 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
(Sep 1, 2015)
no assertion criteria provided
15.
GRCh37:
Chr18:67431406-78014123
See casesPathogenic
(Aug 15, 2014)
no assertion criteria provided
16.
GRCh37:
Chr18:70340543-78014123
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
17.
GRCh37:
Chr18:14869204-78014123
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, ME2, MEP1B, MYO5B, NARS, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, CTDP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, CTIF, TSHZ1, ACAA2, CD226, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, C18orf54, ELOA3, 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
(Nov 19, 2013)
no assertion criteria provided
18.
GRCh37:
Chr18:50224898-78014123
See casesLikely pathogenic
(Aug 18, 2014)
no assertion criteria provided
19.
GRCh37:
Chr18:47454437-78014123
See casesPathogenic
(Jun 16, 2014)
no assertion criteria provided
20.
GRCh37:
Chr18:66625843-78014123
See casesPathogenic
(Sep 30, 2014)
no assertion criteria provided
21.
GRCh37:
Chr18:31879854-78014123
See casesPathogenic
(Apr 22, 2014)
no assertion criteria provided
22.
GRCh37:
Chr18:42930373-78014123
See casesPathogenic
(Nov 11, 2014)
no assertion criteria provided
23.
GRCh37:
Chr18:61673145-78014123
See casesPathogenic
(Aug 26, 2015)
no assertion criteria provided
24.
GRCh37:
Chr18:43776770-78014123
See casesPathogenic
(Jun 3, 2014)
no assertion criteria provided
25.
GRCh37:
Chr18:54462182-78014123
See casesPathogenic
(May 5, 2014)
no assertion criteria provided
26.
GRCh37:
Chr18:59809990-78014123
See casesPathogenic
(Jun 23, 2014)
no assertion criteria provided
27.
GRCh37:
Chr18:64524888-78014123
See casesPathogenic
(Oct 10, 2014)
no assertion criteria provided
28.
GRCh37:
Chr18:59876469-78014123
See casesPathogenic
(Sep 12, 2014)
no assertion criteria provided
29.
GRCh37:
Chr18:74673394-76127279
GALR1, MBP, ZNF236See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
30.
GRCh37:
Chr18:74251369-74796830
MBP, ZNF236, LINC00683, LINC01879See casesUncertain significance
(Dec 8, 2014)
no assertion criteria provided
31.
GRCh37:
Chr18:58768873-78014123
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
32.
GRCh37:
Chr18:33417216-78014123
See casesPathogenic
(Sep 30, 2014)
no assertion criteria provided
33.
GRCh37:
Chr18:46177798-78014123
See casesPathogenic
(Aug 25, 2014)
no assertion criteria provided
34.
GRCh37:
Chr18:66593317-78014123
See casesPathogenic
(Oct 21, 2014)
no assertion criteria provided
35.
GRCh37:
Chr18:136226-78014123
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, ELOA3, 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
36.
GRCh37:
Chr18:47656799-78014123
See casesPathogenicno assertion criteria provided
37.
GRCh37:
Chr18:60796196-78014123
See casesPathogenicno assertion criteria provided
38.
GRCh37:
Chr18:59332806-78014123
See casesPathogenicno assertion criteria provided
39.
GRCh37:
Chr18:60641553-78014123
See casesPathogenicno assertion criteria provided
40.
GRCh37:
Chr18:74064964-78014123
See casesPathogenicno assertion criteria provided
41.
GRCh37:
Chr18:52837852-77989426
See casesPathogenicno assertion criteria provided
42.
GRCh37:
Chr18:66593317-78014123
See casesPathogenicno assertion criteria provided
43.
GRCh37:
Chr18:53100584-78014123
See casesPathogenicno assertion criteria provided
44.
GRCh37:
Chr18:65648458-78005185
See casesPathogenicno assertion criteria provided
45.
GRCh37:
Chr18:163323-78005185
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, ELOA3, 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
46.
GRCh37:
Chr18:74347427-75077574
GALR1, MBP, ZNF236, LINC01879See casesLikely pathogenicno assertion criteria provided
47.
GRCh37:
Chr18:59461447-78010032
not providedLikely pathogenic
(Jul 31, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr18:18548019-77954165
AQP4, ATP5F1A, BCL2, CDH2, CDH7, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GRP, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC4R, ME2, MEP1B, MYO5B, NARS, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TTR, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, CTDP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, CTIF, TSHZ1, ACAA2, CD226, MALT1, TXNL4A, MAPRE2, POLI, ADNP2, TRAPPC8, PHLPP1, NEDD4L, WDR7, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ZNF407, CNDP2, CELF4, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, CTAGE1, GAREM1, CCDC102B, RBFA, GREB1L, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, C18orf54, ELOA3, 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
49.
GRCh37:
Chr18:58525322-78005236
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr18:71078132-78005236
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr18:163323-78005236
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, 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, DIPK1C, PSMA8, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, ANKRD29, APCDD1, ZNF519, C18orf54, ELOA3, 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
52.
GRCh37:
Chr18:74241380-78013620
See casesPathogenic
(Feb 11, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr18:148963-78010032
GRCh38:
Chr18:148963-80252149
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, 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, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr18:66525141-78014123
GRCh38:
Chr18:68857904-80256240
See casesPathogenic
(Aug 19, 2013)
no assertion criteria provided
55.
GRCh37:
Chr18:136226-78014123
GRCh38:
Chr18:136226-80256240
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, 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, DIPK1C, PSMA8, C18orf15, STARD6, C18orf25, CCBE1, CBLN2, SLC25A52, DSG4, AQP4-AS1, ANKRD29, APCDD1, LINC00526, ZNF519, C18orf54, ELOA3, ABHD3, FBXO15, RAB12, DLGAP1-AS3, ZBTB7C, SKA1, CFAP53, GTSCR1, DOK6, RNF152, LINC00305, ZNF396, DLGAP1-AS5, LAMA1, LOC284240, LOC284241, KCTD1, DYNAP, BOD1L2, LINC00907, SIGLEC15, ZADH2, SMIM21, LINC00908, HMSD, LINC01924, LINC00667, LRRC30, LOC339298, CPLX4, ANKRD62, ANKRD30B, CCDC178, ATP9B, LINC01904, POTEC, LINC00668, LINC01443, LINC01538, LOC400655, LINC00909, C18orf65, LINC00683, LINC01879, MIR1-2, MIR122, MIR133A1, MIR187, HSBP1L1, RNF165, TYMSOS, C18orf61, C18orf32, KC6, LOC642484, AKAIN1, LOC643542, C18orf63, LINC01896, MIR3976HG, TMEM200C, SLC35G4, MIR924HG, DLGAP1-AS1, SKOR2, SCARNA17, SNORA37, PCAT18, ELOA3B, LINC01915, ZSCAN30, SNORD58C, MIR924, GATA6-AS1, LOC100129878, LINC01387, PARD6G-AS1, ZNF236-DT, LINC01415, TRK-CTT6-1, LOC100192426, GACAT2, LINC01630, LDLRAD4-AS1, MIR302F, MIR320C1, MIR320C2, MIR1539, MIR4319, MIR4317, MIR4318, MIR4320, MIR3156-2, MIR3929, LINC01539, LOC100505549, GAPLINC, LINC01541, LOC100505797, LINC02582, LINC01898, RBFADN, LINC01543, ELOA3D, RPL17-C18orf32, MIR4526, MIR4741, MIR4528, MIR3976, MIR3975, MIR4527, MIR4529, MIR3591, MIR4743, MIR4744, DSG2-AS1, MIR5583-2, MIR5011, MIR5583-1, MIR5190, MIR548AV, LINC-ROR, LINC01882, LINC01544, LINC01910, DLGAP1-AS4, L3MBTL4-AS1, LOC101927168, LOC101927188, LINC01929, LINC01416, NDUFV2-AS1, LOC101927322, PPP4R1-AS1, LINC01254, LOC101927410, LINC01903, LINC01255, LINC01909, LOC101927571, LINC01922, LINC01444, LINC01927, DSCAS, LINC01029, DSG1-AS1, LOC101927809, LINC01477, LINC01478, SLC14A2-AS1, LOC101927989, LINC01917, MIR6718, MIR7153, MIR6788, MIR8057, MIR133A1HG, LINC01900, TTC39C-AS1, LINC01887, LINC01919, LINC01905, LIVAR, LINC01899, SNHG22, LOC104968399, LINC01895, LINC01892, LINC01928, LOC105371998, LINC01906, LOC105372028, LINC01894, LINC01908, LOC105372038, LOC105372068, LOC105372069, LOC105372071, LINC01902, LINC01901, TCF4-AS1, LINC02565, LINC01926, LINC01912, LOC105372179, LINC01893, LINC01925, LINC01601, SNORA108, SNORA111, LOC107457587, LOC107457597, ELOA3C, WDR7-OT1, LOC107992389, LOC108281158, LOC108318665, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121440, LOC110121493, MIR4527HG, LOC111365166, LOC111365201, LOC111501775, LOC111718495
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
56.
GRCh37:
Chr18:70306575-78012829
GRCh38:
Chr18:72639340-80254946
See casesPathogenic
(Nov 26, 2012)
no assertion criteria provided
57.
GRCh37:
Chr18:65353599-78010032
GRCh38:
Chr18:67686362-80252149
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
58.
GRCh37:
Chr18:74347427-78010032
GRCh38:
Chr18:76635470-80252149
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
59.
GRCh37:
Chr18:73658861-78010032
GRCh38:
Chr18:75946906-80252149
See casesPathogenicno assertion criteria provided
60.
GRCh37:
Chr18:136227-78014123
GRCh38:
Chr18:136227-80256240
ADCYAP1, AQP4, ATP5F1A, BCL2, LDLRAD4, CDH2, CDH7, CETN1, CIDEA, CYB5A, DCC, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DTNA, FECH, KDSR, GALR1, GALNT1, GATA6, GNAL, GRP, IMPA2, LAMA3, LMAN1, SMAD2, SMAD4, SMAD7, MBD1, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, MYO5B, NARS, NDUFV2, NFATC1, NPC1, SERPINB2, ATP8B1, SERPINB5, SERPINB8, SERPINB10, SERPINB13, PIK3C3, PMAIP1, MAPK4, PTPN2, PTPRM, RAB27B, RBBP8, RIT2, ROCK1, RPL17, SERPINB3, SERPINB4, SLC14A1, SNRPD1, SS18, SYT4, TAF4B, TCF4, TGIF1, TTR, TYMS, YES1, ZBTB14, ZNF24, ZNF236, SLC14A2, SERPINB7, NOL4, RNMT, MYOM1, NAPG, RIOK3, TNFRSF11A, MBD2, PSTPIP2, PIAS2, USP14, CTDP1, VAPA, DLGAP1, SOCS6, B4GALT6, TXNL1, LIPG, ONECUT2, VPS4B, ZNF516, LPIN2, CTIF, THOC1, PPP4R1, TSHZ1, NDC80, ACAA2, MYL12A, PRELID3A, CD226, MALT1, TXNL4A, RALBP1, AFG3L2, MAPRE2, RAB31, POLI, ADNP2, TRAPPC8, EPB41L3, PHLPP1, ANKRD12, MTCL1, NEDD4L, WDR7, SMCHD1, PIGN, SLC39A6, RTTN, ZNF521, TPGS2, SETBP1, KCNG2, CABYR, SNORD58B, SNORD58A, CLUL1, SALL3, CDH20, CDH19, TIMM21, ST8SIA5, RMC1, RAX, CXXC1, ST8SIA3, IER3IP1, ELOA2, MEX3C, RNF138, TMX3, DYM, ZCCHC2, RNF125, MOCOS, CEP192, RPRD1A, ZNF532, ELP2, IMPACT, ELAC1, ENOSF1, ZNF407, CNDP2, LINC00470, CELF4, SPIRE1, PSMG2, TWSG1, CHMP1B, MIB1, KIAA1328, KLHL14, RELCH, EPG5, HRH4, PIEZO2, CTAGE1, GAREM1, METTL4, MPPE1, ARHGAP28, CCDC102B, RBFA, CEP76, GREB1L, 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,