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Items: 56

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:46731626
GRCh38:
Chr22:46335729
TRMUnot specifiedLikely benign
(Mar 25, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr22:46731663
GRCh38:
Chr22:46335766
TRMUnot providedPathogenic
(Sep 1, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr22:46731663
GRCh38:
Chr22:46335766
TRMUnot providedPathogenic
(Oct 23, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr22:46731670
GRCh38:
Chr22:46335773
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr22:46731671
GRCh38:
Chr22:46335774
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr22:46731689
GRCh38:
Chr22:46335792
TRMULiver failure acute infantile, Deafness, mitochondrial, modifier of, not specified
Benign, risk factor
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr22:46731698-46731709
GRCh38:
Chr22:46335801-46335812
TRMUnot specifiedUncertain significance
(Jul 1, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr22:46731736
GRCh38:
Chr22:46335839
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr22:46731748
GRCh38:
Chr22:46335851
TRMUnot providedLikely pathogenic
(Jun 5, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr22:46733657
GRCh38:
Chr22:46337760
TRMUnot specifiedBenign
(Jan 4, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr22:46733665
GRCh38:
Chr22:46337768
TRMUnot specifiedLikely benign
(Aug 12, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr22:46733711
GRCh38:
Chr22:46337814
TRMUnot specifiedUncertain significance
(Jun 8, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr22:46733808
GRCh38:
Chr22:46337911
TRMUnot providedLikely pathogenic
(Jul 20, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr22:46733839
GRCh38:
Chr22:46337942
TRMUnot providedLikely pathogenic
(Jan 23, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr22:46733860
GRCh38:
Chr22:46337963
TRMUnot specifiedLikely benign
(Mar 11, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:46739182
GRCh38:
Chr22:46343285
TRMULiver failure acute infantile, not specifiedConflicting interpretations of pathogenicity
(Jul 5, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr22:46739214
GRCh38:
Chr22:46343317
TRMUnot providedLikely pathogenic
(Apr 8, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr22:46742350
GRCh38:
Chr22:46346453
TRMULiver failure acute infantile, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr22:46742392
GRCh38:
Chr22:46346495
TRMUnot specifiedLikely benign
(Dec 8, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr22:46742393
GRCh38:
Chr22:46346496
TRMUnot specifiedLikely benign
(Apr 2, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr22:46742405
GRCh38:
Chr22:46346508
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr22:46742432
GRCh38:
Chr22:46346535
TRMUnot specifiedLikely benign
(Jun 3, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr22:46746188
GRCh38:
Chr22:46350291
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr22:46746234-46746236
GRCh38:
Chr22:46350337-46350339
TRMUnot providedLikely pathogenic
(Jan 23, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr22:46746247
GRCh38:
Chr22:46350350
TRMUnot providedLikely pathogenic
(Jan 29, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr22:46746261
GRCh38:
Chr22:46350364
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr22:46746276
GRCh38:
Chr22:46350379
TRMUnot specifiedLikely benign
(Sep 11, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr22:46748002
GRCh38:
Chr22:46352105
TRMUnot specifiedBenign
(Apr 5, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr22:46748173
GRCh38:
Chr22:46352276
TRMUnot providedPathogenic
(Apr 2, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr22:46748235
GRCh38:
Chr22:46352338
TRMUnot specifiedConflicting interpretations of pathogenicity
(Feb 25, 2016)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr22:46749652-46749655
GRCh38:
Chr22:46353755-46353758
TRMUnot specifiedUncertain significance
(Mar 4, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr22:46749726
GRCh38:
Chr22:46353829
TRMULiver failure acute infantile, not providedPathogenic/Likely pathogenic
(Oct 31, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr22:46749755
GRCh38:
Chr22:46353858
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr22:46749776
GRCh38:
Chr22:46353879
TRMUnot specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr22:46751367
GRCh38:
Chr22:46355470
TRMULiver failure acute infantile, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr22:46751392
GRCh38:
Chr22:46355495
TRMUnot specifiedUncertain significance
(May 19, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr22:46751408
GRCh38:
Chr22:46355511
TRMUnot specifiedUncertain significance
(Jul 31, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr22:46751409
GRCh38:
Chr22:46355512
TRMUnot specifiedLikely benign
(Aug 9, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr22:46751421
GRCh38:
Chr22:46355524
TRMUnot providedPathogenic
(Apr 29, 2014)
criteria provided, single submitter
40.
GRCh37:
Chr22:46751961
GRCh38:
Chr22:46356064
TRMUnot specifiedLikely benign
(Jun 3, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr22:46752736
GRCh38:
Chr22:46356839
TRMUnot providedLikely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr22:46752743
GRCh38:
Chr22:46356846
TRMUnot specifiedUncertain significance
(Apr 22, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr22:46752762
GRCh38:
Chr22:46356865
TRMUnot specifiedLikely benign
(Nov 19, 2012)
criteria provided, single submitter
44.
GRCh37:
Chr22:46752813
GRCh38:
Chr22:46356916
TRMULiver failure acute infantile, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr22:46752829
GRCh38:
Chr22:46356932
TRMULiver failure acute infantile, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr22:46752830
GRCh38:
Chr22:46356933
TRMUnot specifiedLikely benign
(Mar 10, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr22:46752855
GRCh38:
Chr22:46356958
TRMULiver failure acute infantile, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr22:46752883
GRCh38:
Chr22:46356986
TRMUnot specifiedLikely benign
(Nov 19, 2013)
criteria provided, single submitter
49.
GRCh37:
Chr22:46752911
GRCh38:
Chr22:46357014
TRMULiver failure acute infantile, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
50.
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, RTL6, 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
51.
GRCh37:
Chr22:40425714-51220961
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
52.
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, 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, 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
53.
GRCh37:
Chr22:46316673-50357320
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr22:46677669-48424155
GRCh38:
Chr22:46281772-48028340
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
55.
GRCh37:
Chr22:46350578-47641075
GRCh38:
Chr22:45954698-47245325
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr22:42829758-51177360
GRCh38:
Chr22:42433752-50738932
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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