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Items: 1 to 100 of 112

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:51017394
GRCh38:
Chr22:50578965
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.18730(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr22:51017402
GRCh38:
Chr22:50578973
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.00300(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr22:51017476
GRCh38:
Chr22:50579047
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.18790(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr22:51017484
GRCh38:
Chr22:50579055
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr22:51017514
GRCh38:
Chr22:50579085
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.06910(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr22:51017687
GRCh38:
Chr22:50579258
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr22:51017698
GRCh38:
Chr22:50579269
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr22:51018204
GRCh38:
Chr22:50579775
CHKB, CHKB-CPT1Bnot specified, not providedGO-ESP:0.00461(C)
GMAF:0.00200(C)
GO-ESP:0.00407(C)
Conflicting interpretations of pathogenicity
(Jun 27, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr22:51018207
GRCh38:
Chr22:50579778
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00003(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr22:51018243
GRCh38:
Chr22:50579814
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00007(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr22:51018247
GRCh38:
Chr22:50579818
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr22:51018393
GRCh38:
Chr22:50579964
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.00020(C)
GO-ESP:0.00003(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr22:51018408
GRCh38:
Chr22:50579979
CHKB, CHKB-CPT1BMuscular dystrophy, congenital, megaconial typePathogenic
(Jun 10, 2011)
no assertion criteria provided
14.
GRCh37:
Chr22:51018627
GRCh38:
Chr22:50580198
CHKB, CHKB-CPT1BMuscular dystrophy, congenital, megaconial typeGO-ESP:0.00001(T)Pathogenic
(Nov 1, 2014)
no assertion criteria provided
15.
GRCh37:
Chr22:51018692
GRCh38:
Chr22:50580263
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:51018707
GRCh38:
Chr22:50580278
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Mar 25, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr22:51018716
GRCh38:
Chr22:50580287
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Oct 12, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr22:51018801
GRCh38:
Chr22:50580372
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00002(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr22:51018815
GRCh38:
Chr22:50580386
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00010(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr22:51018821
GRCh38:
Chr22:50580392
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Oct 4, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr22:51018831
GRCh38:
Chr22:50580402
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00003(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr22:51018993
GRCh38:
Chr22:50580564
CHKB, CHKB-CPT1BMuscular dystrophy, congenital, megaconial typePathogenic
(Jun 10, 2011)
no assertion criteria provided
23.
GRCh37:
Chr22:51019001
GRCh38:
Chr22:50580572
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00115(G)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr22:51019023
GRCh38:
Chr22:50580594
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(May 19, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr22:51019074
GRCh38:
Chr22:50580645
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Aug 10, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr22:51019100-51019102
GRCh38:
Chr22:50580671-50580673
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00029(-)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr22:51019841
GRCh38:
Chr22:50581412
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Nov 21, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr22:51019972
GRCh38:
Chr22:50581543
CHKB, CHKB-CPT1BMuscular dystrophy, congenital, megaconial typePathogenic
(Jun 10, 2011)
no assertion criteria provided
29.
GRCh37:
Chr22:51019973
GRCh38:
Chr22:50581544
CHKB, CHKB-CPT1Bnot specifiedGMAF:0.00220(G)
GO-ESP:0.00137(G)
Likely benign
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr22:51020166
GRCh38:
Chr22:50581737
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Jul 21, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr22:51020271
GRCh38:
Chr22:50581842
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr22:51020668
GRCh38:
Chr22:50582239
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.56940(A)
GMAF:0.29670(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr22:51020736
GRCh38:
Chr22:50582307
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00019(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr22:51020762
GRCh38:
Chr22:50582333
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGMAF:0.00040(A)
GO-ESP:0.00390(A)
Conflicting interpretations of pathogenicity
(Dec 6, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr22:51020992
GRCh38:
Chr22:50582563
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Sep 30, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr22:51020994
GRCh38:
Chr22:50582565
CHKB, CHKB-CPT1Bnot specifiedUncertain significance
(Feb 19, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr22:51020995
GRCh38:
Chr22:50582566
CHKB, CHKB-CPT1Bnot specifiedGO-ESP:0.01494(A)
GMAF:0.02160(A)
GO-ESP:0.00624(A)
Benign/Likely benign
(Feb 16, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr22:51021062
GRCh38:
Chr22:50582633
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGO-ESP:0.00247(C)Conflicting interpretations of pathogenicity
(Jan 4, 2017)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr22:51021095
GRCh38:
Chr22:50582666
CHKB, CHKB-CPT1BMuscular dystrophy, congenital, megaconial typePathogenic
(Jun 10, 2011)
no assertion criteria provided
40.
GRCh37:
Chr22:51021173
GRCh38:
Chr22:50582744
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr22:51021197
GRCh38:
Chr22:50582768
CHKB, CHKB-CPT1Bnot specifiedLikely benign
(Jun 28, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr22:51021229
GRCh38:
Chr22:50582800
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGMAF:0.00780(A)
GO-ESP:0.01619(A)
Conflicting interpretations of pathogenicity
(Sep 29, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr22:51021237
GRCh38:
Chr22:50582808
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGMAF:0.00780(T)
GO-ESP:0.01674(T)
Conflicting interpretations of pathogenicity
(Sep 29, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr22:51021258
GRCh38:
Chr22:50582829
CHKB, CHKB-CPT1Bnot specified, Congenital Muscular Dystrophy, CHKB-relatedGMAF:0.00500(A)
GO-ESP:0.00509(A)
Conflicting interpretations of pathogenicity
(Aug 3, 2016)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr22:51021304
GRCh38:
Chr22:50582875
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr22:51021307
GRCh38:
Chr22:50582878
CHKB, CHKB-CPT1BCongenital Muscular Dystrophy, CHKB-relatedGMAF:0.00880(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr22:47247169-51176099
See casesPathogenicno assertion criteria provided
48.
GRCh37:
Chr22:46866460-51197838
See casesPathogenicno assertion criteria provided
49.
GRCh37:
Chr22:47187586-51237463
See casesPathogenicno assertion criteria provided
50.
GRCh37:
Chr22:50941373-51066468
See casesLikely benignno assertion criteria provided
51.
GRCh37:
Chr22:16054691-51237463
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, 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, SEPT5, 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, DVL1P1, LZTR1, CLTCL1, DGCR14, 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, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, 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, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, 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, KIAA1644, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, 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, FAM109B, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5L2, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, BCRP2, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, BCRP3, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, ZNF72P, IGLL5
See casesPathogenicno assertion criteria provided
52.
GRCh37:
Chr22:16054691-51220902
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, 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, SEPT5, 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, DVL1P1, LZTR1, CLTCL1, DGCR14, 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, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, 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, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, 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, KIAA1644, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, 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, FAM109B, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5L2, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, BCRP2, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, BCRP3, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, ZNF72P, IGLL5
See casesPathogenicno assertion criteria provided
53.
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, FAM19A5, 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, SEPT3, PANX2, TOMM22, PDXP, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, C22orf46, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, APOL6, APOL5, APOL4, APOL3, SELENOO, L3MBTL2, HDAC10, LDOC1L, POLDIP3, C22orf23, PHF5A, KIAA1644, SHANK3, MICALL1, TUBGCP6, LMF2, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, CDPF1, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, ATP5L2, TEX33, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, SYCE3, FAM227A, MIR659
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr22:40425714-51220961
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr22:50922386-51205985
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr22:16054691-51237518
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, 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, SEPT5, 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, DVL1P1, LZTR1, CLTCL1, DGCR14, 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, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, 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, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, LDOC1L, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, 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, FAM109B, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5L2, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, BCRP2, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, BCRP3, SYCE3, TMEM191C, FAM227A, CASTOR1, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, ZNF72P, IGLL5
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr22:49033233-51193680
Autism spectrum disorders, Seizure DisordersPathogenic
(Aug 12, 2011)
no assertion criteria provided
58.
GRCh37:
Chr22:50282986-51304566
Autism spectrum disordersPathogenic
(Aug 12, 2011)
no assertion criteria provided
59.
GRCh37:
Chr22:50807316-51037801
GRCh38:
Chr22:50368887-50599372
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
60.
GRCh37:
Chr22:49923409-51197838
GRCh38:
Chr22:49529760-50759410
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
61.
GRCh37:
Chr22:46757062-51197727
GRCh38:
Chr22:46361165-50759299
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
62.
GRCh37:
Chr22:50999319-51178257
GRCh38:
Chr22:50560890-50739829
ACR, ARSA, CHKB, CPT1B, MAPK8IP2, SHANK3, CHKB-CPT1B, SYCE3, CHKB-AS1, LOC105373100See casesUncertain significance
(Nov 26, 2012)
no assertion criteria provided
63.
GRCh37:
Chr22:42476081-51178264
GRCh38:
Chr22:42080077-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
64.
GRCh37:
Chr22:48637187-51178264
GRCh38:
Chr22:48241375-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
65.
GRCh37:
Chr22:50923886-51197838
GRCh38:
Chr22:50485457-50759410
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
66.
GRCh37:
Chr22:42776967-51197838
GRCh38:
Chr22:42380961-50759410
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
67.
GRCh37:
Chr22:43233100-51174234
GRCh38:
Chr22:42837094-50735806
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
68.
GRCh37:
Chr22:43583986-51183872
GRCh38:
Chr22:43187980-50745444
See casesPathogenic
(Mar 19, 2013)
no assertion criteria provided
69.
GRCh37:
Chr22:47128342-51218950
GRCh38:
Chr22:46732445-50780522
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
70.
GRCh37:
Chr22:50587992-51218950
GRCh38:
Chr22:50149563-50780522
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
71.
GRCh37:
Chr22:49928762-51203353
GRCh38:
Chr22:49535113-50780581
See casesPathogenic
(Jun 5, 2012)
no assertion criteria provided
72.
GRCh37:
Chr22:48896156-51203353
GRCh38:
Chr22:48500344-50780581
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
73.
GRCh37:
Chr22:43106282-51178264
GRCh38:
Chr22:42710276-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
74.
GRCh37:
Chr22:49010148-51178264
GRCh38:
Chr22:48614336-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
75.
GRCh37:
Chr22:42267147-51178264
GRCh38:
Chr22:41871143-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
76.
GRCh37:
Chr22:45160169-51178264
GRCh38:
Chr22:44764289-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
77.
GRCh37:
Chr22:50713396-51178264
GRCh38:
Chr22:50274967-50739836
See casesBenign
(Jan 30, 2010)
no assertion criteria provided
78.
GRCh37:
Chr22:45193119-51178264
GRCh38:
Chr22:44797239-50739836
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
79.
GRCh37:
Chr22:44388759-51121542
GRCh38:
Chr22:43992879-50683114
See casesBenign
(Oct 1, 2010)
no assertion criteria provided
80.
GRCh37:
Chr22:50493732-51116152
GRCh38:
Chr22:50055303-50677724
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
81.
GRCh37:
Chr22:49898417-51203353
GRCh38:
Chr22:49504768-50780581
See casesPathogenic
(Feb 25, 2011)
no assertion criteria provided
82.
GRCh37:
Chr22:47315714-51178264
GRCh38:
Chr22:46919818-50739836
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
83.
GRCh37:
Chr22:44298441-51178264
GRCh38:
Chr22:43902561-50739836
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
84.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, 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, SEPT5, 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, DVL1P1, LZTR1, CLTCL1, DGCR14, 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, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, 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, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, IGLVVI-22-1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, 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, FAM109B, NFAM1, PNPLA5, PRR34-AS1, CDPF1, GTSE1-AS1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5L2, LOC284865, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, C22orf34, USP41, CHKB-CPT1B, CCDC188, LINC01658, LRRC75B, LINC00207, LRRC74B, BCRP2, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, LINC01662, TBC1D22A-AS1, BCRP3, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, PRAMENP, CASTOR1, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, LINC01660, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-AS1, CHKB-AS1, LINC01634, LINC00899, 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, LOC100506679, NUP50-AS1, LINC01589, LOC100507599, LOC100507657, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, RNU6-28P, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, LOC100996335, LINC01664, LOC100996415, LINC01663, SPECC1L-ADORA2A, ISX-AS1, LOC101927051, LOC101927257, EP300-AS1, LOC101927447, LINC01656, LINC01644, LOC101927859, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, MIATNB, LOC400927-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LOC105372977, LINC01638, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, LOC105373051, LINC01639, LOC105373064, LOC105373100, SNORA92, SNORD140, LOC107985532, LOC107985544
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
85.
GRCh37:
Chr22:40598018-51174234
GRCh38:
Chr22:40202014-50735806
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
86.
GRCh37:
Chr22:45002243-51178264
GRCh38:
Chr22:44606363-50739836
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
87.
GRCh37:
Chr22:49774048-51178264
GRCh38:
Chr22:49378128-50739836
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
88.
GRCh37:
Chr22:49711443-51178264
GRCh38:
Chr22:49315518-50739836
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
89.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, 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, SEPT5, 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, DVL1P1, LZTR1, CLTCL1, DGCR14, 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, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, 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, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, IGLVVI-22-1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, 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, FAM109B, NFAM1, PNPLA5, PRR34-AS1, CDPF1, GTSE1-AS1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5L2, LOC284865, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, C22orf34, USP41, CHKB-CPT1B, CCDC188, LINC01658, LRRC75B, LINC00207, LRRC74B, BCRP2, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, LINC01662, TBC1D22A-AS1, BCRP3, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, PRAMENP, CASTOR1, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, LINC01660, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-AS1, CHKB-AS1, LINC01634, LINC00899, 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, LOC100506679, NUP50-AS1, LINC01589, LOC100507599, LOC100507657, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, RNU6-28P, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, LOC100996335, LINC01664, LOC100996415, LINC01663, SPECC1L-ADORA2A, ISX-AS1, LOC101927051, LOC101927257, EP300-AS1, LOC101927447, LINC01656, LINC01644, LOC101927859, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, MIATNB, LOC400927-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LOC105372977, LINC01638, LINC01640, LINC01643,