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Items: 48

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
2.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
3.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
4.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
5.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
6.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
7.
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
8.
GRCh37:
Chr2:1488368
GRCh38:
Chr2:1484596
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
9.
GRCh37:
Chr2:1488386
GRCh38:
Chr2:1484614
TPODeficiency of iodide peroxidaseGO-ESP:0.00031(G)Pathogenic
(May 11, 2010)
no assertion criteria provided
10.
GRCh37:
Chr2:1491613
GRCh38:
Chr2:1487841
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
11.
GRCh37:
Chr2:1491763
GRCh38:
Chr2:1487991
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
12.
GRCh37:
Chr2:1497748
GRCh38:
Chr2:1493976
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
13.
GRCh37:
Chr2:1497783
GRCh38:
Chr2:1494011
TPODeficiency of iodide peroxidaseGO-ESP:0.00015(G)
GMAF:0.00060(G)
Pathogenic
(May 11, 2010)
no assertion criteria provided
14.
GRCh37:
Chr2:1499831
GRCh38:
Chr2:1496059
TPODeficiency of iodide peroxidasePathogenic
(May 11, 2010)
no assertion criteria provided
15.
GRCh37:
Chr2:1507728
GRCh38:
Chr2:1503956
TPODeficiency of iodide peroxidaseGMAF:0.00020(A)Pathogenic
(May 11, 2010)
no assertion criteria provided
16.
GRCh37:
Chr2:12770-4366451
GRCh38:
Chr2:12770-4318861
See casesUncertain significance
(Mar 18, 2014)
no assertion criteria provided
17.
GRCh37:
Chr2:236816-46210371
GRCh38:
Chr2:236816-45983232
ACP1, ADCY3, ALK, APOB, RHOB, ZFP36L2, CAD, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, MYCN, ODC1, VIT, POMC, PPM1B, PPM1G, PPP1CB, PRKCE, EIF2AK2, RPS7, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SRD5A2, STRN, ADAM17, TPO, TSSC1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BRE, PREPL, FEZ2, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, C2orf44, THUMPD2, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, EPT1, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, PQLC3, LINC01105, TCF23, GAREML, PLB1, FAM84A, RMDN2, GDF7, ADGRF3, OXER1, FAM179A, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, FAM150B, LOC285043, LINC00486, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, C2orf71, LOC388942, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, FLJ31356, CAPN14, LOC645949, FAM228A, LOC653602, SNORD92, MIR558, LINC01249, DCDC2C, LOC728730, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, LINC01126, LINC01460, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, LOC100288911, MIR1301, BRE-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, CEBPZOS, SOS1-IT1, LINC01304, RNASEH1-AS1, SIX3-AS1, LOC100506274, ID2-AS1, LOC100506457, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LOC101060385, RMDN2-AS1, LOC101926966, LINC01250, LOC101928222, LINC01247, LOC101929452, LOC101929551, LINC00211, LOC101929567, LOC101929596, LOC101929715, LOC101929723, LOC101929733, MIR7158, MIR7515, LOC102723362, LINC01248, LOC102723824, LOC102723854, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3
See casesPathogenic
(Nov 19, 2013)
no assertion criteria provided
18.
GRCh37:
Chr2:131730-2717289
GRCh38:
Chr2:131730-2713517
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
19.
GRCh37:
Chr2:30341-4689989
GRCh38:
Chr2:30341-4642399
See casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
20.
GRCh37:
Chr2:1417465-1522939
GRCh38:
Chr2:1413693-1519167
TPOSee casesUncertain significance
(Mar 10, 2014)
no assertion criteria provided
21.
GRCh37:
Chr2:12770-25262563
GRCh38:
Chr2:12770-25039694
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
22.
GRCh37:
Chr2:12770-2752444
GRCh38:
Chr2:12770-2748672
See casesPathogenic
(Jun 18, 2013)
no assertion criteria provided
23.
GRCh37:
Chr2:12770-33936576
GRCh38:
Chr2:12770-33711509
ACP1, ADCY3, ALK, APOB, RHOB, CAD, CENPA, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, MYCN, ODC1, POMC, PPM1G, PPP1CB, RPS7, RRM2, SDC1, SOX11, SPAST, SRD5A2, ADAM17, TPO, TSSC1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BRE, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, PDIA6, MYCNOS, CGREF1, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, NTSR2, RASGRP3, FAM98A, IFT172, SH3YL1, SNORD53, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, DNAJC27, ATRAID, NBAS, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, TMEM214, SLC35F6, TRMT61B, ASXL2, ADI1, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, WDR35, RDH14, NLRC4, AGBL5, LDAH, RBKS, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, NOL10, C2orf44, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, EPT1, RSAD2, CAPN13, DRC1, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, OSR1, TTC32, ZNF513, C2orf50, PQLC3, LINC01105, TCF23, GAREML, PLB1, FAM84A, GDF7, ADGRF3, FAM179A, UBXN2A, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, FAM150B, LOC285043, LINC00486, DNAJC5G, IAH1, FLJ33534, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, GEN1, C2orf48, PFN4, FAM228B, RNF144A-AS1, MFSD2B, C2orf71, PTRHD1, LOC400940, LINC00487, LINC01376, LINC00954, FLJ31356, CAPN14, FAM110C, LOC645949, FAM228A, LOC653602, SNORD92, MIR558, LINC01249, DCDC2C, RAD51AP2, DNAJC27-AS1, MYT1L-AS1, TRA-AGC8-1, OST4, TDRD15, LINC01460, TRY-GTA2-1, LOC100271832, MIR1301, BRE-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LINC01304, RNASEH1-AS1, LOC100506274, ID2-AS1, LOC100506457, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, AGBL5-AS1, LINC00570, HS1BP3-IT1, LOC101060385, LOC101926966, LINC01250, LOC101928222, LINC01247, LOC101929452, LOC101929551, LOC101929567, LOC101929715, LOC101929733, MIR7158, MIR7515, LOC102723362, LINC01248, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, GACAT3
See casesPathogenic
(Jun 18, 2013)
no assertion criteria provided
24.
GRCh37:
Chr2:883836-1788548
GRCh38:
Chr2:888150-1784776
TPO, PXDN, SNTG2, LOC101060385See casesUncertain significance
(Sep 16, 2011)
no assertion criteria provided
25.
GRCh37:
Chr2:17019-2309039
GRCh38:
Chr2:17019-2305267
See casesPathogenic
(Oct 15, 2012)
no assertion criteria provided
26.
GRCh37:
Chr2:1106638-1717999
GRCh38:
Chr2:1110952-1714227
TPO, PXDN, SNTG2See casesUncertain significance
(Nov 14, 2012)
no assertion criteria provided
27.
GRCh37:
Chr2:17019-20200817
GRCh38:
Chr2:17019-20001056
See casesPathogenic
(Sep 26, 2012)
no assertion criteria provided
28.
GRCh37:
Chr2:17019-5005335
GRCh38:
Chr2:17019-4957745
See casesLikely pathogenic
(Dec 4, 2012)
no assertion criteria provided
29.
GRCh37:
Chr2:12770-2314588
GRCh38:
Chr2:12770-2310816
See casesLikely pathogenic
(Mar 19, 2013)
no assertion criteria provided
30.
GRCh37:
Chr2:1442042-1507882
GRCh38:
Chr2:1438270-1504110
TPOSee casesBenign
(Apr 30, 2011)
no assertion criteria provided
31.
GRCh37:
Chr2:17019-1649089
GRCh38:
Chr2:17019-1645317
ACP1, TPO, PXDN, SH3YL1, SNTG2, TMEM18, FAM150B, LINC01115, FAM110C, LOC101060385See casesLikely pathogenic
(Dec 16, 2011)
no assertion criteria provided
32.
GRCh37:
Chr2:17019-26541714
GRCh38:
Chr2:17019-26318846
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
33.
GRCh37:
Chr2:30341-2659911
GRCh38:
Chr2:30341-2656139
See casesLikely benign
(Dec 22, 2010)
no assertion criteria provided
34.
GRCh37:
Chr2:883836-1495173
GRCh38:
Chr2:888150-1491401
TPO, SNTG2, LOC101060385See casesBenign
(Oct 19, 2010)
no assertion criteria provided
35.
GRCh37:
Chr2:39193-1546506
GRCh38:
Chr2:39193-1542734
ACP1, TPO, SH3YL1, SNTG2, TMEM18, FAM150B, LINC01115, FAM110C, LOC101060385See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
36.
GRCh37:
Chr2:30341-1973174
GRCh38:
Chr2:30341-1969402
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
37.
GRCh37:
Chr2:30341-3452903
GRCh38:
Chr2:30341-3449132
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
38.
GRCh37:
Chr2:30341-28642531
GRCh38:
Chr2:30341-28419664
ACP1, ADCY3, APOB, RHOB, CAD, CENPA, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, MATN3, MPV17, MYCN, ODC1, POMC, PPM1G, RPS7, RRM2, SDC1, SOX11, ADAM17, TPO, TSSC1, UCN, VSNL1, SLC30A3, PXDN, KLF11, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BRE, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, PDIA6, MYCNOS, CGREF1, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, LPIN1, PUM2, NTSR2, IFT172, SH3YL1, TRIB2, GRHL1, NRBP1, ITSN2, TRAPPC12, DNAJC27, ATRAID, NBAS, SF3B6, CPSF3, SNTG2, ATAD2B, TMEM214, SLC35F6, ASXL2, ADI1, ALLC, DPYSL5, TRIM54, KIDINS220, WDR35, RDH14, AGBL5, LDAH, RBKS, HS1BP3, FNDC4, COLEC11, CENPO, CCDC121, SMC6, NOL10, C2orf44, FAM49A, C2orf16, ZNF512, ABHD1, EPT1, RSAD2, DRC1, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, OSR1, TTC32, ZNF513, C2orf50, PQLC3, LINC01105, TCF23, GAREML, FAM84A, GDF7, ADGRF3, UBXN2A, CYS1, KRTCAP3, ATP6V1C2, RNASEH1, FAM150B, DNAJC5G, IAH1, FLJ33534, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, GEN1, C2orf48, PFN4, FAM228B, RNF144A-AS1, MFSD2B, PTRHD1, LOC400940, LINC00487, LINC01376, LINC00954, FLJ31356, FAM110C, LOC645949, FAM228A, LOC653602, LINC01249, DCDC2C, RAD51AP2, DNAJC27-AS1, MYT1L-AS1, TRA-AGC8-1, OST4, TDRD15, LINC01460, TRY-GTA2-1, MIR1301, BRE-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LINC01304, RNASEH1-AS1, LOC100506274, ID2-AS1, LOC100506457, LOC100506474, NT5C1B-RDH14, MIR4757, MIR4429, AGBL5-AS1, LINC00570, HS1BP3-IT1, LOC101060385, LOC101926966, LINC01250, LOC101928222, LINC01247, LOC101929452, LOC101929551, LOC101929567, LOC101929715, LOC101929733, MIR7158, MIR7515, LOC102723362, LINC01248, MIR7515HG, LINC01246, MYCNUT, NRIR, GACAT3
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
39.
GRCh37:
Chr2:30341-4979949
GRCh38:
Chr2:30341-4932359
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
40.
GRCh37:
Chr2:50661-3297606
GRCh38:
Chr2:50661-3293835
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
ACP1, ACYP2, ADCY3, ALK, APOB, RHOB, BCYRN1, ZFP36L2, CAD, CALM2, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, EPAS1, FKBP1B, FOSL2, FSHR, GCKR, MSH6, GTF3C2, HADHA, HADHB, HPCAL1, FOXN2, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LHCGR, LTBP1, EPCAM, MATN3, MPV17, MSH2, MTIF2, MYCN, ODC1, VIT, PIGF, POMC, PPM1B, PPM1G, PPP1CB, PRKCE, EIF2AK2, RPS7, RPS27A, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SPTBN1, SRD5A2, STRN, ADAM17, TPO, TSSC1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, NRXN1, OTOF, CRIPT, ROCK2, TP53I3, MRPL33, BRE, PREPL, FEZ2, SOCS5, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, GPR75, YWHAQ, GTF2A1L, STON1, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PSME4, PUM2, RHOQ, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, ERLEC1, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, ASB3, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, CCDC88A, ALLC, KCNK12, DPYSL5, RTN4, TRIM54, TTC7A, PPP4R3B, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, FBXO11, C2orf44, THUMPD2, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, EPT1, MCFD2, ATP6V1E2, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, CFAP36, KLHL29, PPP1R21, CMPK2, MBOAT2, TMEM18, C2orf73, CIB4, CLHC1, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, PQLC3, LINC01105, TCF23, GAREML, PLB1, FAM84A, RMDN2, GDF7, ADGRF3, OXER1, FAM179A, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, FAM150B, LOC285043, LINC00486, C2orf61, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, STON1-GTF2A1L, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, C2orf71, LOC388942, TMEM247, LINC01118, TSPYL6, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, EML6, FLJ31356, CAPN14, CHAC2, HCG2040054, LOC645949, FAM228A, LOC653602, SNORD92, MIR558, MIR559, LINC01249, DCDC2C, LOC728730, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, LOC730100, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, LINC01126, LINC01460, LINC01119, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, LOC100288911, MIR1301, BRE-AS1, GPR75-ASB3, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3682, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, CEBPZOS, SOS1-IT1, LINC01304, RNASEH1-AS1, SIX3-AS1, LOC100506142, LOC100506274, ID2-AS1, LOC100506457, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4431, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LOC101060385, RMDN2-AS1, LOC101805491, LOC101926966, LOC101927043, LINC01250, LOC101928222, LINC01247, LOC101929452, LOC101929551, LINC00211, LOC101929567, LOC101929596, LOC101929715, LOC101929723, LOC101929733, MIR7158, MIR548BA, MIR7515, LOC102723362, LINC01248, LOC102723824, LOC102723854, MIR7515HG, LINC01246, MIR8485, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr2:50661-9793036
GRCh38:
Chr2:50661-9652907
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
43.
GRCh37:
Chr2:30342-15007075
GRCh38:
Chr2:30342-14866951
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr2:30141-31991818
GRCh38:
Chr2:30141-31766749
ACP1, ADCY3, ALK, APOB, RHOB, CAD, CENPA, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, MATN3, MPV17, MYCN, ODC1, POMC, PPM1G, PPP1CB, RPS7, RRM2, SDC1, SOX11, SRD5A2, ADAM17, TPO, TSSC1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BRE, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, PDIA6, MYCNOS, CGREF1, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, NTSR2, IFT172, SH3YL1, SNORD53, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, TRAPPC12, DNAJC27, ATRAID, NBAS, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, TMEM214, SLC35F6, TRMT61B, ASXL2, ADI1, ALLC, DPYSL5, TRIM54, KIDINS220, WDR35, RDH14, AGBL5, LDAH, RBKS, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, NOL10, C2orf44, FAM49A, LBH, C2orf16, ZNF512, ABHD1, EPT1, RSAD2, CAPN13, DRC1, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, OSR1, TTC32, ZNF513, C2orf50, PQLC3, LINC01105, TCF23, GAREML, PLB1, FAM84A, GDF7, ADGRF3, FAM179A, UBXN2A, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, FAM150B, LOC285043, DNAJC5G, IAH1, FLJ33534, C2orf70, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, GEN1, C2orf48, PFN4, FAM228B, RNF144A-AS1, MFSD2B, C2orf71, PTRHD1, LOC400940, LINC00487, LINC01376, LINC00954, FLJ31356, CAPN14, FAM110C, LOC645949, FAM228A, LOC653602, SNORD92, LINC01249, DCDC2C, RAD51AP2, DNAJC27-AS1, MYT1L-AS1, TRA-AGC8-1, OST4, TDRD15, LINC01460, TRY-GTA2-1, MIR1301, BRE-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LINC01304, RNASEH1-AS1, LOC100506274, ID2-AS1, LOC100506457, LOC100506474, NT5C1B-RDH14, MIR4757, MIR4429, AGBL5-AS1, LINC00570, HS1BP3-IT1, LOC101060385, LOC101926966, LINC01250, LOC101928222, LINC01247, LOC101929452, LOC101929551, LOC101929567, LOC101929715, LOC101929733, MIR7158, MIR7515, LOC102723362, LINC01248, MIR7515HG, LINC01246, MYCNUT, NRIR, GACAT3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr2:30141-14634164
GRCh38:
Chr2:30141-14494040
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr2:1106638-1703661
GRCh38:
Chr2:1110952-1699889
TPO, PXDN, SNTG2See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
47.
GRCh37:
Chr2:694400-1437359
GRCh38:
Chr2:694400-1433587
TPO, SNTG2, LINC01115, LOC101060385See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr2:1155607-1495173
GRCh38:
Chr2:1159921-1491401
TPO, SNTG2See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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