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

Download:

Choose Destination

Search results

Items: 74

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:50962065
GRCh38:
Chr22:50523636
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
not provided, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Dec 9, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr22:50962208
GRCh38:
Chr22:50523779
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr22:50962259
GRCh38:
Chr22:50523830
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr22:50962514
GRCh38:
Chr22:50524085
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr22:50962782
GRCh38:
Chr22:50524353
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr22:50963905
GRCh38:
Chr22:50525476
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr22:50964189
GRCh38:
Chr22:50525760
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr22:50964196
GRCh38:
Chr22:50525767
TYMP, SCO2Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr22:50964209
GRCh38:
Chr22:50525780
TYMP, SCO2not specifiedUncertain significance
(May 12, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr22:50964236
GRCh38:
Chr22:50525807
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), not specified, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr22:50964247
GRCh38:
Chr22:50525818
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), not specifiedBenign/Likely benign
(Mar 8, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr22:50964255
GRCh38:
Chr22:50525826
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), not specified, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr22:50964259
GRCh38:
Chr22:50525830
TYMP, SCO2not specifiedLikely benign
(Mar 30, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr22:50964327
GRCh38:
Chr22:50525898
TYMP, SCO2not specifiedUncertain significance
(Aug 2, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr22:50964359
GRCh38:
Chr22:50525930
TYMP, SCO2not specifiedLikely benign
(Aug 18, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:50964440
GRCh38:
Chr22:50526011
TYMP, SCO2not specifiedConflicting interpretations of pathogenicity
(Feb 1, 2017)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr22:50964446
GRCh38:
Chr22:50526017
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr22:50964511
GRCh38:
Chr22:50526082
TYMP, SCO2not specifiedUncertain significance
(Apr 10, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr22:50964511
GRCh38:
Chr22:50526082
TYMP, SCO2not providedLikely pathogenic
(Sep 23, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr22:50964554
GRCh38:
Chr22:50526125
TYMP, SCO2Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr22:50964560
GRCh38:
Chr22:50526131
TYMP, SCO2not specifiedLikely benign
(Sep 13, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr22:50964657
GRCh38:
Chr22:50526228
TYMP, SCO2not specifiedLikely benign
(Aug 14, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr22:50964663
GRCh38:
Chr22:50526234
TYMP, SCO2not specifiedBenign
(Nov 1, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr22:50964670
GRCh38:
Chr22:50526241
TYMP, SCO2not providedLikely pathogenic
(Oct 17, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr22:50964707
GRCh38:
Chr22:50526278
TYMP, SCO2not specified, not providedLikely benign
(Sep 15, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr22:50964747
GRCh38:
Chr22:50526318
TYMP, SCO2not specifiedUncertain significance
(Nov 8, 2012)
criteria provided, single submitter
27.
GRCh37:
Chr22:50964760
GRCh38:
Chr22:50526331
TYMP, SCO2not specifiedBenign
(Apr 3, 2012)
criteria provided, single submitter
28.
GRCh37:
Chr22:50964763
GRCh38:
Chr22:50526334
TYMP, SCO2not specifiedBenign
(Sep 14, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr22:50964804
GRCh38:
Chr22:50526375
TYMP, SCO2not specifiedUncertain significance
(Apr 4, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr22:50964862
GRCh38:
Chr22:50526433
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr22:50964908-50964911
GRCh38:
Chr22:50526479-50526482
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
not provided, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr22:50964921
GRCh38:
Chr22:50526492
TYMPnot specifiedLikely benign
(Mar 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr22:50965002
GRCh38:
Chr22:50526573
TYMPnot specifiedLikely benign
(Mar 16, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr22:50965038
GRCh38:
Chr22:50526609
TYMPnot providedLikely pathogenic
(Aug 8, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr22:50965059
GRCh38:
Chr22:50526630
TYMPnot specifiedLikely benign
(Mar 26, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr22:50965067
GRCh38:
Chr22:50526638
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not providedPathogenic
(Jun 2, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr22:50965072
GRCh38:
Chr22:50526643
TYMPnot specifiedLikely benign
(Jul 27, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr22:50965102
GRCh38:
Chr22:50526673
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr22:50965119
GRCh38:
Chr22:50526690
TYMPnot specifiedLikely benign
(Sep 17, 2013)
criteria provided, single submitter
40.
GRCh37:
Chr22:50965624
GRCh38:
Chr22:50527195
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr22:50965650
GRCh38:
Chr22:50527221
TYMPnot providedPathogenic
(Jun 8, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr22:50965676
GRCh38:
Chr22:50527247
TYMPnot specifiedUncertain significance
(Feb 15, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr22:50965683
GRCh38:
Chr22:50527254
TYMPnot specifiedUncertain significance
(Jul 25, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr22:50965694
GRCh38:
Chr22:50527265
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not providedPathogenic/Likely pathogenic
(Sep 9, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr22:50965721
GRCh38:
Chr22:50527292
TYMPnot specifiedUncertain significance
(Oct 14, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr22:50966009
GRCh38:
Chr22:50527580
TYMPnot specifiedBenign
(Aug 12, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr22:50966024
GRCh38:
Chr22:50527595
TYMPnot specifiedLikely benign
(Jan 23, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr22:50966041
GRCh38:
Chr22:50527612
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not providedPathogenic/Likely pathogenic
(Jul 19, 2017)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr22:50966077
GRCh38:
Chr22:50527648
TYMPnot specifiedUncertain significance
(Aug 26, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr22:50966144
GRCh38:
Chr22:50527715
TYMPnot specifiedLikely benign
(Jun 27, 2012)
criteria provided, single submitter
51.
GRCh37:
Chr22:50966160
GRCh38:
Chr22:50527731
TYMPnot specifiedLikely benign
(Feb 22, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr22:50966161
GRCh38:
Chr22:50527732
TYMPnot specifiedLikely benign
(Oct 10, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr22:50966939
GRCh38:
Chr22:50528510
TYMPnot providedPathogenic
(Jun 17, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr22:50966981
GRCh38:
Chr22:50528552
TYMPnot providedLikely pathogenic
(Sep 5, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr22:50967020
GRCh38:
Chr22:50528591
TYMPnot providedLikely pathogenic
(Apr 19, 2012)
criteria provided, single submitter
56.
GRCh37:
Chr22:50967581
GRCh38:
Chr22:50529152
TYMPnot specifiedUncertain significance
(Apr 4, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr22:50967624
GRCh38:
Chr22:50529195
TYMPnot providedLikely pathogenic
(Jul 11, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr22:50967701
GRCh38:
Chr22:50529272
TYMPnot specifiedUncertain significance
(Aug 13, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr22:50967740
GRCh38:
Chr22:50529311
TYMPnot specified, not providedBenign/Likely benign
(Jun 15, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr22:50967751
GRCh38:
Chr22:50529322
TYMPnot specifiedLikely benign
(Mar 15, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr22:50967768
GRCh38:
Chr22:50529339
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not providedPathogenic
(Feb 9, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr22:50967775
GRCh38:
Chr22:50529346
TYMPnot specifiedLikely benign
(Feb 22, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr22:50967912
GRCh38:
Chr22:50529483
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr22:50967935
GRCh38:
Chr22:50529506
TYMPnot specifiedBenign
(Feb 7, 2012)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr22:50967949
GRCh38:
Chr22:50529520
TYMPnot specifiedUncertain significance
(Nov 12, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr22:50968184
GRCh38:
Chr22:50529755
TYMPnot specifiedLikely benign
(Jul 7, 2017)
criteria provided, single submitter
67.
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, 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 submitter
68.
GRCh37:
Chr22:40425714-51220961
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr22:50922386-51205985
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr22:16054691-51237518
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, 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, 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, FAM19A5, 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, 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, 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
(Jan 20, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr22:50587992-51218950
GRCh38:
Chr22:50149563-50780522
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
72.
GRCh37:
Chr22:49788999-51177360
GRCh38:
Chr22:49395349-50738932
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
73.
GRCh37:
Chr22:48533855-51178264
GRCh38:
Chr22:48138038-50739836
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
74.
GRCh37:
Chr22:42829758-51177360
GRCh38:
Chr22:42433752-50738932
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center