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

Download:

Choose Destination

Search results

Items: 36

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr22:37622745
GRCh38:
Chr22:37226705
RAC2R183Wnot providedUncertain significance
(Jun 21, 2017)
criteria provided, single submitterVCV000432838
2.
GRCh37:
Chr22:37622747
GRCh38:
Chr22:37226707
RAC2T182MNeutrophil immunodeficiency syndromeUncertain significance
(Apr 13, 2018)
criteria provided, single submitterVCV000577450
3.
GRCh37:
Chr22:37622791
GRCh38:
Chr22:37226751
RAC2Neutrophil immunodeficiency syndromeBenign
(Dec 4, 2017)
criteria provided, single submitterVCV000533473
4.
GRCh37:
Chr22:37622805
GRCh38:
Chr22:37226765
RAC2R163*not providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000493343
5.
GRCh37:
Chr22:37622815
GRCh38:
Chr22:37226775
RAC2not specifiedBenign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflictsVCV000138864
6.
GRCh37:
Chr22:37622861
GRCh38:
Chr22:37226821
RAC2not specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitterVCV000378455
7.
GRCh37:
Chr22:37628008
GRCh38:
Chr22:37231968
RAC2not specified, Neutrophil immunodeficiency syndromeBenign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflictsVCV000378454
8.
GRCh37:
Chr22:37628840
GRCh38:
Chr22:37232800
RAC2Malignant tumor of prostateUncertain significanceno assertion criteria providedVCV000161602
9.
GRCh37:
Chr22:37628882
GRCh38:
Chr22:37232842
RAC2E62KSevere combined immunodeficiency disease, Combined immunodeficiency, Abnormality of T cell physiology,
Abnormality of cellular immune system, Lymphopenia, Immunodeficiency,
Neutrophil immunodeficiency syndrome
Pathogenic/Likely pathogenic
(Jul 7, 2016)
criteria provided, multiple submitters, no conflictsVCV000464885
10.
GRCh37:
Chr22:37628897
GRCh38:
Chr22:37232857
RAC2D57NNeutrophil immunodeficiency syndromePathogenic
(Sep 1, 2000)
no assertion criteria providedVCV000007575
11.
GRCh37:
Chr22:37637607
GRCh38:
Chr22:37241567
RAC2not specifiedBenign
(Aug 5, 2013)
criteria provided, single submitterVCV000138866
12.
GRCh37:
Chr22:37637653
GRCh38:
Chr22:37241613
RAC2not specifiedBenign
(Jan 7, 2013)
criteria provided, single submitterVCV000138865
13.
GRCh37:
Chr22:37640138
GRCh38:
Chr22:37244098
RAC2not specifiedLikely benign
(Jan 5, 2016)
criteria provided, single submitterVCV000378453
14.
GRCh37:
Chr22:37630318-37711374
RAC2, CYTH4not providedBenign
(Nov 8, 2012)
no assertion criteria providedVCV000605316
15.
GRCh37:
Chr22:16114244-51211392
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000605056
16.
GRCh37:
Chr22:16114244-51195728
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000605055
17.
GRCh37:
Chr22:16054667-51243435
CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544, ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, DDT, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000605053
18.
GRCh37:
Chr22:35674826-39466442
See casesLikely pathogenic
(Sep 9, 2015)
no assertion criteria providedVCV000443342
19.
GRCh37:
Chr22:36877226-38548989
See casesPathogenic
(Jul 15, 2015)
no assertion criteria providedVCV000442145
20.
GRCh37:
Chr22:16888900-51197838
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, EWSR1, CYP2D6, DDT, CYB5R3, TYMP, EP300, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, CRYBB2, CRYBB3, CSF2RB, CSNK1E, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441654
21.
GRCh37:
Chr22:16888900-51197838
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441653
22.
GRCh37:
Chr22:37090025-39601950
See casesUncertain significanceno assertion criteria providedVCV000395965
23.
GRCh37:
Chr22:16054691-51237463
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
See casesPathogenicno assertion criteria providedVCV000395140
24.
GRCh37:
Chr22:16054691-51220902
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, DDT, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544
See casesPathogenicno assertion criteria providedVCV000394709
25.
GRCh37:
Chr22:35728929-51220961
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSF2RB, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1F0, HMOX1, IL2RB, KCNJ4, LGALS1, LGALS2, MB, MCM5, MFNG, MGAT3, MPST, MYH9, NAGA, NCF4, NDUFA6, SNU13, PDGFB, PMM1, POLR2F, PPARA, MAPK11, PVALB, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, TCF20, TEF, TST, UPK3A, WNT7B, PLA2G6, GALR3, APOL1, EIF3D, CACNA1I, SYNGR1, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, TOM1, DNAL4, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, RBFOX2, RASD2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, APOL2, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPTIN3, PANX2, TOMM22, PDXP, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, APOL6, APOL5, APOL4, APOL3, SELENOO, L3MBTL2, HDAC10, RTL6, POLDIP3, C22orf23, PHF5A, SHISAL1, SHANK3, MICALL1, TUBGCP6, LMF2, RPS19BP1, SMDT1, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, ATP5MGL, TEX33, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, SYCE3, FAM227A, MIR659, LOC100506544
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253617
26.
GRCh37:
Chr22:16054691-51237518
GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5MGL, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, LOC100286925, IGLL5, LOC100506544, ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, DDT, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253509
27.
GRCh37:
Chr22:35680095-38098981
See casesPathogenic
(Jan 6, 2016)
criteria provided, single submitterVCV000221996
28.
GRCh37:
Chr22:37300872-37951517
GRCh38:
Chr22:36904830-37555510
See casesUncertain significance
(Jun 4, 2012)
no assertion criteria providedVCV000150377
29.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, LOC91370, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, LINC00895, LINC00896, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5MGL, LOC284865, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, C22orf34, USP41, CHKB-CPT1B, CCDC188, FAM230I, LRRC75B, LINC00207, LRRC74B, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, FAM230E, LOC642648, TBC1D22A-AS1, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, CASTOR1, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, FAM230J, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-DT, CHKB-DT, LINC01634, LINC00899, LOC100286925, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, LOC100506544, LOC100506679, NUP50-DT, LINC01589, LOC100507599, LINC02554, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, FAM230H, LINC01664, FAM230D, FAM230F, SPECC1L-ADORA2A, ISX-AS1, LOC101927051, MRTFA-AS1, EP300-AS1, LOC101927447, LINC01656, LOC101927551, LINC01644, FAM230G, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, LOC102724378, LINC02556, MIATNB, TPTEP2-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LINC02557, LINC02559, LOC105372977, LINC01638, LOC105372990, LINC02558, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, LOC105373051, LINC01639, LOC105373064, LOC105373100, SNORA92, SNORD140, HSERVPRODH, LOC106780824, LOC106799832, LOC106799835, LOC107181287, NOA3, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985532, LOC107985544, NCF4-AS1, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, SNORA50B, SNORA77B, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, SLC5A4-AS1, LIF-AS1, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, SREBF2-AS1, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC114841040, ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D7, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT2, H1F0, SERPIND1, HMOX1, IGL, IGLC1, IGLC2, IGLC3, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TRU-TCA2-1, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, GSTT4, C22orf24, CBY1, SUN2, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, IGLJ1, IGLC7, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2
See casesPathogenic
(Jul 30, 2010)
no assertion criteria providedVCV000145336
30.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
PIM3, THAP7-AS1, RIMBP3B, PIWIL3, SERHL2, BPIFC, TMEM211, SEC14L3, SGSM3, THOC5, EIF3D, MN1, MPST, CSDC2, MYH9, NAGA, RRP7A, MCAT, CSNK1E, GNAZ, TMEM121B, HDHD5, CHKB, COMT, CPT1B, CECR3, CECR2, MCHR1, GSC2, TRU-TCA2-1, TST, XBP1, PPP6R2, SFI1, LZTR1, CLTCL1, ESS2, LOC91370, RNF185, ISX, RPS19BP1, DUSP18, PNPLA3, SCO2, HMGXB4, TOM1, RASL10A, GAS2L1, TAB1, SLC25A17, DDX17, TXNRD2, GCAT, IGLV11-55, IGLV10-54, IGLV9-49, IGLV2-18, IGLV2-14, IGLV7-43, IGLV6-57, IGLV4-60, TAFA5, KCTD17, CCDC134, ADM2, FOXRED2, SYN3, CDC45, BAIAP2L2, SCUBE1, THAP7, APOL6, PLA2G6, APOL5, APOL4, EFCAB6, MRPL40, TPST2, GALR3, NIPSNAP1, APOL1, DGCR9, FBXO7, C1QTNF6, TNFRSF13C, RFPL2, RFPL1S, NUP50, LARGE1, SNAP29, TMEM184B, SULT4A1, ZNF280A, PPM1F, DEPDC5, TRMT2A, INPP5J, AIFM3, RIMBP3C, YDJC, TOB2, DNAL4, SF3A1, APOBEC3C, DESI1, RFPL3S, RFPL3, ENTHD1, DNAJB7, IGLV8-61, IGLV7-46, CDC42EP1, DMC1, APOBEC3H, WBP2NL, MTMR3, RTN4R, SLC2A11, APOBEC3G, XPNPEP3, APOL3, GUCD1, SELENOO, MED15, UPB1, SNORD139, SNORD83A, A4GALT, MOV10L1, L3MBTL2, TUBA8, ADA2, GSTT2, H1F0, GP1BB, NCF4, IGL, IGLC1, IGLC2, RGL4, RNU12, MIAT, SHISA8, SAMM50, ATXN10, TXN2, ACR, GGA1, LOC284865, MIF-AS1, LOC284898, RIBC2, DGCR5, ARVCF, ATF4, TTC28-AS1, SEC14L4, DGCR10, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, ARFGAP3, SNORD43, P2RX6, SYNGR1, SEPTIN5, POLR2F, CACNA1I, TOP3B, PPARA, MAPK1, GRAP2, PICK1, MAPK11, PRODH, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PVALB, PRR14L, RTL6, POLDIP3, C22orf23, TBC1D10A, HDAC10, KREMEN1, OSM, PDGFB, ATP5MGL, ACO2, ADORA2A, CRELD2, RTL10, TEX33, LINC00634, LOC339685, TTC38, PRR34, IGLV5-52, IGLV5-48, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, IGLV4-3, IGLV3-32, ODF3B, CHADL, MEI1, GTSE1-DT, FAM118A, RBX1, DGCR2, RANGAP1, RFPL1, MIOX, PRR5, RPL3, GRK3, ADSL, ARSA, TRMU, ZMAT5, MAPK12, SBF1, SEPTIN3, SUSD2, AP1B1, SMC1B, CYTH4, TFIP11, C22orf31, TBC1D22A, GSTT4, C22orf24, CBY1, SUN2, DGCR11, PES1, CBX7, CABIN1, PRAME, MORC2-AS1, C22orf42, MIRLET7BHG, LINC00898, CCDC116, CABP7, MIR33A, LINC00229, DENND6B, TMPRSS6, CCDC157, PRR5-ARHGAP8, C22orf34, USP41, FAM230B, FAM230E, TTLL8, POLR3H, LOC642648, TBC1D22A-AS1, KDELR3, LINC00528, FAM230A, GSTT2B, RNF215, VPREB3, MTFP1, EIF4ENIF1, PANX2, TOMM22, GNB1L, ADORA2A-AS1, FAM227A, MIEF1, DGCR8, SLC16A8, SYCE3, TMEM191C, IGLV1-50, IGLV1-47, IGLV1-44, SEC14L2, MAPK8IP2, RSPH14, IGLV1-40, IGLV1-36, RASD2, LL22NC03-63E9.3, CASTOR1, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, PATZ1, SH3BP1, SLC25A1, TSSK2, PLXNB2, SLC5A1, SMTN, YWHAH, ZNF70, SDF2L1, PPIL2, LIMK2, ATP6V1E1, BCR, BID, BIK, TSPO, CHEK2, PACSIN2, MGAT3, IGLC3, IGLL1, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, USP18, IL2RB, CYP2D7, CYP2D6, DDT, CYB5R3, TYMP, IFT27, TRIOBP, ST13, TBX1, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GRAMD4, TTLL12, NDUFA6, DRG1, NEFH, NF2, SNU13, CBX6, NPTXR, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, RBFOX2, SEZ6L, TCF20, TCN2, TEF, TIMP3, CLDN5, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, PITPNB, PISD, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, APOL2, BCL2L13, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, FAM230J, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-DT, CHKB-DT, LINC01634, LINC00899, LOC100286925, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, LOC100506544, LOC100506679, NUP50-DT, LINC01589, LOC100507599, LINC02554, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, FAM230H, LINC01664, FAM230D, FAM230F, SPECC1L-ADORA2A, APOBEC3A, APOBEC3F, ISX-AS1, LOC101927051, MRTFA-AS1, EP300-AS1, LOC101927447, LINC01656, LOC101927551, LINC01644, SNORD83B, GAB4, FAM230G, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, C22orf39, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, IGLV3-10, MIR6818, MIR6889, LINC01315, LOC102724378, LINC02556, MIATNB, TPTEP2-CSNK1E, LINC01399, IGLV2-11, IGLV2-8, IGLV1-51, MGAT3-AS1, LINC01651, LINC02557, LINC02559, LOC105372977, LINC01638, LOC105372990, LINC02558, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, LOC105373051, LINC01639, LOC105373064, TANGO2, LOC105373100, SNORA92, SNORD140, HSERVPRODH, LOC106780824, LOC106799832, LOC106799835, LOC107181287, IGLJ1, IGLC7, SGSM1, EMID1, NOA3, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, KCNJ4, LGALS1, LGALS2, LOC107963955, LOC107966121, LOC107966125, LOC107985532, LOC107985544, NCF4-AS1, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, SNORA50B, SNORA77B, IL17REL, SRRD, MORC2, TNRC6B, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, FAM230I, LRRC75B, LINC00207, HIC2, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, SLC5A4-AS1, LRRC74B, CHCHD10, RHBDD3, TTLL1, LIF-AS1, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, MIRLET7A3, MB, MCM5, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, SREBF2-AS1, LOC112694764, LOC112694766, MIRLET7B, MLC1, ZC3H7B, MFNG, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, MIR130B, MIR185, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, ANKRD54, APOBEC3D, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, SELENOM, ZNF280B, ZNRF3, ASCC2, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC114841040, LINC00895, LINC00896, PLA2G3, CHKB-CPT1B, CCDC188, C22orf15, HSCB, PHF5A, KLHL22, PEX26, PARVG, CERK, CARD10, PARVB, YPEL1, ZDHHC8, PDXP, ASPHD2, MICAL3, MRTFA, NCAPH2, UQCR10, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-19, CSF2RB, SERPIND1, HMOX1, LIF, DRICH1, MIF, MMP11, PI4KA, PMM1, EIF3L, RTCB, RAC2, RANBP1, SLC5A4, SLC7A4, ZNF74, DGCR6, GTSE1, IGLV5-45, IGLV5-37, IGLV4-69, IGLV3-21, IGLV3-16, IGLV3-12, LINC01521, TUG1, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, MPPED1, CENPM, ALG12, NOL12, SHISAL1, KIAA1671, TRABD, HPS4, SPECC1L, SLC25A18, LOC90834, SCARF2, KIAA0930, TTC28, MYO18B, CCDC117, HORMAD2, GGTLC2, LMF2, PKDREJ, CACNG2, DERL3, LRP5L, ZBED4, JOSD1
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000144164
31.
GRCh37:
Chr22:37457809-51177360
GRCh38:
Chr22:37061769-50738932
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSNK1E, CYP2D7, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1F0, IL2RB, KCNJ4, LGALS1, LGALS2, MFNG, MGAT3, NAGA, NDUFA6, SNU13, PDGFB, PMM1, POLR2F, PPARA, MAPK11, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, TCF20, TEF, TRU-TCA2-1, UPK3A, WNT7B, PLA2G6, GALR3, CACNA1I, SYNGR1, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, DNAL4, PKDREJ, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, TRIOBP, CDC42EP1, DMC1, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, TAFA5, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPTIN3, PANX2, TOMM22, PDXP, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, KCTD17, CCDC134, ADM2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, SELENOO, L3MBTL2, HDAC10, RTL6, POLDIP3, C22orf23, PHF5A, SHISAL1, SHANK3, MICALL1, TUBGCP6, LOC90834, LMF2, RPS19BP1, SMDT1, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, RNU12, ATP5MGL, LOC284930, LOC284933, LINC00634, LOC339685, C22orf34,