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Items: 35

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:128680494
GRCh38:
Chr11:128810599
FLI1Bleeding disorder platelet type macrothrombocytopeniaPathogenic
(Jan 21, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr11:119807473-134868407
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr11:126631558-134868407
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr11:120615374-134868407
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr11:116722111-134868407
GRCh38:
Chr11:116851395-134998513
ACRV1, APLP2, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NFRKB, NRGN, OPCML, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, PCSK7, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, PHLDB1, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, TMPRSS13, KIRREL3, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, RNF214, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, BACE1-AS, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, FXYD6-FXYD2, MIR4697, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369532, STT3A-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr11:127785859-134938470
GRCh38:
Chr11:127915964-135068576
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
7.
GRCh37:
Chr11:121677255-134938470
GRCh38:
Chr11:121806547-135068576
See casesPathogenic
(Nov 27, 2013)
no assertion criteria provided
8.
GRCh37:
Chr11:121482185-134938470
GRCh38:
Chr11:121611476-135068576
See casesPathogenic
(Nov 19, 2013)
no assertion criteria provided
9.
GRCh37:
Chr11:124184921-134688010
GRCh38:
Chr11:124315025-134818116
See casesPathogenic
(Oct 23, 2012)
no assertion criteria provided
10.
GRCh37:
Chr11:126069484-134945165
GRCh38:
Chr11:126199589-135075271
See casesPathogenic
(Jul 9, 2012)
no assertion criteria provided
11.
GRCh37:
Chr11:123833781-134945165
GRCh38:
Chr11:123963074-135075271
See casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
12.
GRCh37:
Chr11:120386468-134945165
GRCh38:
Chr11:120515759-135075271
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
13.
GRCh37:
Chr11:116676984-134945165
GRCh38:
Chr11:116806268-135075271
ACRV1, APLP2, APOA1, APOA4, APOC3, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NFRKB, NRGN, OPCML, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, PCSK7, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, PHLDB1, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, TMPRSS13, KIRREL3, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, RNF214, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, BACE1-AS, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, FXYD6-FXYD2, MIR4697, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369532, STT3A-AS1
See casesPathogenic
(Apr 16, 2012)
no assertion criteria provided
14.
GRCh37:
Chr11:125916253-134945165
GRCh38:
Chr11:126046358-135075271
See casesPathogenic
(Feb 14, 2012)
no assertion criteria provided
15.
GRCh37:
Chr11:121651167-134945165
GRCh38:
Chr11:121780459-135075271
See casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
16.
GRCh37:
Chr11:112832130-131059210
GRCh38:
Chr11:112864326-131189315
ACRV1, APLP2, APOA1, APOA4, APOC3, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, DRD2, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, HTR3A, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NCAM1, NFRKB, NNMT, NRGN, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZBTB16, ZNF202, BARX2, ZPR1, USP2, PCSK7, HTR3B, ZW10, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, RBM7, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, PHLDB1, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, CADM1, POU2F3, HINFP, REXO2, OR8G2, OR8B8, OR8G1, OR8B2, DCPS, ZBTB44, DDX25, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, C11orf71, ROBO4, NXPE4, TTC12, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, USP28, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, TMPRSS5, PUS3, MFRP, TMPRSS13, KIRREL3, BUD13, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, ESAM, TIRAP, C1QTNF5, PANX3, APOA5, TMEM45B, NXPE1, NXPE2, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, HEPACAM, OAF, ANKK1, RNF214, LINC00900, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, CLDN25, LOC649133, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, NCAM1-AS1, BACE1-AS, MIR4301, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, TMPRSS4-AS1, FXYD6-FXYD2, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, LOC101928847, LOC101928940, LOC101928985, LOC101929011, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369507, LOC105369509, LOC105369532, STT3A-AS1
See casesPathogenic
(Feb 25, 2011)
no assertion criteria provided
17.
GRCh37:
Chr11:116739651-134945165
GRCh38:
Chr11:116868935-135075271
ACRV1, APLP2, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NFRKB, NRGN, OPCML, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, PCSK7, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, PHLDB1, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, TMPRSS13, KIRREL3, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, RNF214, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, BACE1-AS, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, FXYD6-FXYD2, MIR4697, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, LOC105369532, STT3A-AS1
See casesPathogenic
(Feb 18, 2011)
no assertion criteria provided
18.
GRCh37:
Chr11:125111368-134868407
GRCh38:
Chr11:125241472-134998513
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
19.
GRCh37:
Chr11:125916253-134868407
GRCh38:
Chr11:126046358-134998513
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
20.
GRCh37:
Chr11:124075932-134868420
GRCh38:
Chr11:124205225-134998526
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
21.
GRCh37:
Chr11:123670646-134868420
GRCh38:
Chr11:123799938-134998526
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
22.
GRCh37:
Chr11:116722088-134868420
GRCh38:
Chr11:116851372-134998526
ACRV1, APLP2, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NFRKB, NRGN, OPCML, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, PCSK7, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, PHLDB1, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, TMPRSS13, KIRREL3, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, RNF214, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, BACE1-AS, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, FXYD6-FXYD2, MIR4697, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369532, STT3A-AS1
See casesPathogenic
(May 30, 2010)
no assertion criteria provided
23.
GRCh37:
Chr11:123624201-134868407
GRCh38:
Chr11:123753493-134998513
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr11:120107141-134910140
GRCh38:
Chr11:120236432-135040246
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
ACAT1, ACRV1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, ATM, FXYD2, CXCR5, CASP1, CASP4, CASP5, CBL, CD3D, CD3E, CD3G, CHEK1, CRYAB, DDX6, DDX10, DLAT, DPAGT1, DRD2, ETS1, FDX1, FLI1, SLC37A4, GRIA4, GRIK4, GUCY1A2, H2AFX, HMBS, HSPA8, HSPB2, HTR3A, IL10RA, IL18, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, NCAM1, NFRKB, NNMT, NPAT, NRGN, OPCML, PAFAH1B2, PGR, POU2AF1, PPP2R1B, PTS, NECTIN1, RDX, RPS25, SC5D, SCN2B, SCN4B, SDHD, ST3GAL4, SLN, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, TRPC6, UPK2, ZBTB16, ZNF202, CUL5, BARX2, ZPR1, USP2, PCSK7, HTR3B, ZW10, MMP20, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, RBM7, MPZL2, YAP1, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, EXPH5, PHLDB1, SIK2, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, CADM1, POU2F3, HINFP, REXO2, OR8G2, OR8B8, OR8G1, TIMM8B, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, CNTN5, SIAE, C11orf71, ROBO4, SLC35F2, RAB39A, BTG4, NXPE4, TTC12, C11orf57, ELMOD1, FOXRED1, SCN3B, VPS11, TEX12, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, CEP126, ARHGAP20, USP28, CARD18, AASDHPPT, PKNOX2, TP53AIP1, MMP27, ABCG4, ROBO3, C11orf1, RNF26, FAM118B, DYNC2H1, NLRX1, MSANTD2, ALG9, CLMP, PDZD3, C11orf63, CCDC15, PDGFD, TMPRSS5, PUS3, MFRP, JAM3, BCO2, TMEM133, TMPRSS13, DCUN1D5, MSANTD4, KIRREL3, BUD13, TMEM25, RPUSD4, TBRG1, UBASH3B, C11orf70, SNORD14C, SNORD14D, SNORD14E, DIXDC1, ZC3H12C, GLB1L2, ESAM, ALKBH8, FDXACB1, C11orf52, VPS26B, GLB1L3, TIRAP, CARD16, C1QTNF5, TMEM123, PANX3, APOA5, TMEM45B, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, PATE1, C11orf65, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, ANGPTL5, ANKK1, RNF214, LOC283140, LINC00900, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, C11orf53, PLET1, LOC387810, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, C11orf87, COLCA1, C11orf88, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, MIR34B, MIR34C, DDI1, BLID, CARD17, LINC00167, HEPN1, LOC643923, CLDN25, LOC646522, LOC649133, LOC100128088, LOC100128239, LOC100128386, LOC100131626, LOC100132078, LOC100132686, PATE3, ZNF123P, TRK-TTT2-1, NCAM1-AS1, BACE1-AS, MIR4301, MIR3167, USP2-AS1, MIR3920, MIR3656, CASP12, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, HSPB2-C11orf52, FXYD6-FXYD2, MIR4697, MIR4493, MIR4491, MIR4492, MIR4693, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101054525, LOC101928424, LOC101928535, LOC101928823, LOC101928847, LOC101928940, LOC101928985, LOC101929011, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR7641-1, MIR6090, MIR6716, MIR8052, LOC102723838, LOC102723895, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369473, LOC105369486, LOC105369507, LOC105369509, LOC105369532, STT3A-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr11:126303635-134910140
GRCh38:
Chr11:126433740-135040246
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr11:120377974-134446160
GRCh38:
Chr11:120507265-134576266
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr11:119085742-134868548
GRCh38:
Chr11:119215032-134998654
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr11:118660474-134868407
GRCh38:
Chr11:118789765-134998513
ACRV1, APLP2, CXCR5, CBL, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, NFRKB, NRGN, OPCML, NECTIN1, RPS25, SC5D, ST3GAL4, SORL1, SRPRA, ST14, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, EI24, FEZ1, ARHGAP32, C2CD2L, HYOU1, ADAMTS8, IGSF9B, NCAPD3, ARHGEF12, VSIG2, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, TRAPPC4, SPA17, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, PRDM10, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, KIRREL3, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, PATE1, ADAMTS15, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, PATE3, ZNF123P, TRK-TTT2-1, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, MIR4697, MIR4493, MIR4492, KIRREL3-AS2, NTM-IT, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, LOC105369532, STT3A-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
30.
GRCh37:
Chr11:126315700-134868407
GRCh38:
Chr11:126445805-134998513
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr11:125761210-128942286
GRCh38:
Chr11:125891315-129072391
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr11:119304619-134868407
GRCh38:
Chr11:119433909-134998513
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr11:124026430-134868407
GRCh38:
Chr11:124155723-134998513
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr11:127474555-134868348
GRCh38:
Chr11:127604660-134998454
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr11:116722111-134868407
GRCh38:
Chr11:116851395-134998513
ACRV1, APLP2, ARCN1, FXYD2, CXCR5, CBL, CD3D, CD3E, CD3G, CHEK1, DDX6, DPAGT1, ETS1, FLI1, SLC37A4, GRIK4, H2AFX, HMBS, HSPA8, IL10RA, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, NFRKB, NRGN, OPCML, PAFAH1B2, NECTIN1, RPS25, SC5D, SCN2B, SCN4B, ST3GAL4, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, UPK2, ZNF202, BARX2, USP2, PCSK7, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, MPZL2, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, PHLDB1, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, POU2F3, HINFP, OR8G2, OR8B8, OR8G1, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, SIAE, ROBO4, FOXRED1, SCN3B, VPS11, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, PKNOX2, TP53AIP1, ABCG4, ROBO3, RNF26, FAM118B, NLRX1, MSANTD2, CLMP, PDZD3, C11orf63, CCDC15, PUS3, MFRP, JAM3, TMPRSS13, KIRREL3, TMEM25, RPUSD4, TBRG1, UBASH3B, SNORD14C, SNORD14D, SNORD14E, GLB1L2, ESAM, VPS26B, GLB1L3, TIRAP, C1QTNF5, PANX3, TMEM45B, JAML, TTC36, PATE1, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, RNF214, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, BLID, LINC00167, HEPN1, LOC646522, LOC649133, LOC100128239, LOC100131626, PATE3, ZNF123P, TRK-TTT2-1, BACE1-AS, MIR3167, USP2-AS1, MIR3656, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, FXYD6-FXYD2, MIR4697, MIR4493, MIR4492, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR6090, MIR6716, MIR8052, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369532, STT3A-AS1
See casesPathogenic
(May 27, 2010)
no assertion criteria provided
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