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Items: 44

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
DSPPDentinogenesis imperfecta - Shield's type IIPathogenic
(Jul 1, 2008)
no assertion criteria provided
2.
DSPPDenticlesPathogenic
(Jul 1, 2008)
no assertion criteria provided
3.
DSPPDentinogenesis imperfecta - Shield's type IIPathogenic
(Feb 1, 2001)
no assertion criteria provided
4.
GRCh37:
Chr4:88532076
GRCh38:
Chr4:87610924
DSPPDenticlesPathogenic
(Oct 1, 2002)
no assertion criteria provided
5.
GRCh37:
Chr4:88532104
GRCh38:
Chr4:87610952
DSPPDentinogenesis imperfecta - Shield's type IIPathogenic
(Jun 1, 2012)
no assertion criteria provided
6.
GRCh37:
Chr4:88532109
GRCh38:
Chr4:87610957
DSPPDeafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1Pathogenic
(Jun 1, 2012)
no assertion criteria provided
7.
GRCh37:
Chr4:88533257
GRCh38:
Chr4:87612105
DSPPDentinogenesis imperfecta - Shield's type II, Dentinogenesis imperfecta - Shield's type III, Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
Pathogenic
(Jun 1, 2012)
no assertion criteria provided
8.
GRCh37:
Chr4:88533338
GRCh38:
Chr4:87612186
DSPPDentinogenesis imperfecta - Shield's type IIPathogenic
(Feb 1, 2001)
no assertion criteria provided
9.
GRCh37:
Chr4:88533441
GRCh38:
Chr4:87612289
DSPPnot specifiedGMAF:0.47150(C)Benigncriteria provided, single submitter
10.
GRCh37:
Chr4:88533445
GRCh38:
Chr4:87612293
DSPPnot specifiedGMAF:0.21870(C)
GO-ESP:0.25855(C)
Benigncriteria provided, single submitter
11.
GRCh37:
Chr4:88533540
GRCh38:
Chr4:87612388
DSPPDentinogenesis imperfecta - Shield's type II, not specifiedGO-ESP:0.14238(T)
GMAF:0.13680(T)
GO-ESP:0.09050(T)
Conflicting interpretations of pathogenicity
(Apr 15, 2016)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr4:88533552
GRCh38:
Chr4:87612400
DSPPnot specifiedGO-ESP:0.00001(G)Uncertain significance
(May 10, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr4:88533641
GRCh38:
Chr4:87612489
DSPPnot specifiedGMAF:0.00440(T)
GO-ESP:0.00138(T)
Benigncriteria provided, single submitter
14.
GRCh37:
Chr4:88534046
GRCh38:
Chr4:87612894
DSPPnot specifiedGMAF:0.04850(C)
GO-ESP:0.01325(C)
Benigncriteria provided, single submitter
15.
GRCh37:
Chr4:88534065
GRCh38:
Chr4:87612913
DSPPnot specifiedGMAF:0.10500(A)
GO-ESP:0.05574(A)
Benign
(Jan 27, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr4:88534235
GRCh38:
Chr4:87613083
DSPPnot specifiedGMAF:0.32570(A)Benigncriteria provided, single submitter
17.
GRCh37:
Chr4:88534398
GRCh38:
Chr4:87613246
DSPPnot specifiedGMAF:0.00300(T)
GO-ESP:0.00455(T)
Likely benigncriteria provided, single submitter
18.
GRCh37:
Chr4:88534401
GRCh38:
Chr4:87613249
DSPPnot specifiedGMAF:0.00400(A)
GO-ESP:0.00097(A)
Benign
(May 20, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr4:88534411
GRCh38:
Chr4:87613259
DSPPnot specifiedGMAF:0.00040(A)
GO-ESP:0.00012(A)
Uncertain significance
(Sep 7, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr4:88535590
GRCh38:
Chr4:87614438
DSPPnot specifiedUncertain significance
(Feb 26, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr4:88535605
GRCh38:
Chr4:87614453
DSPPnot specifiedGMAF:0.00060(C)Uncertain significance
(Jul 23, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr4:88536487
GRCh38:
Chr4:87615335
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr4:88536493
GRCh38:
Chr4:87615341
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr4:88536502
GRCh38:
Chr4:87615350
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr4:88536595
GRCh38:
Chr4:87615443
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr4:88536598
GRCh38:
Chr4:87615446
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr4:88536610
GRCh38:
Chr4:87615458
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr4:88536673
GRCh38:
Chr4:87615521
DSPPnot specifiedGO-ESP:0.00011(C)Uncertain significance
(Oct 15, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr4:88536688
GRCh38:
Chr4:87615536
DSPPnot specifiedGMAF:0.00020(C)Uncertain significance
(Oct 15, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr4:88536697
GRCh38:
Chr4:87615545
DSPPnot specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr4:88536988
GRCh38:
Chr4:87615836
DSPPnot specifiedGO-ESP:0.00005(C)Uncertain significance
(Oct 15, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr4:88537432-88537433
GRCh38:
Chr4:87616280-87616281
DSPPnot specifiedUncertain significance
(Aug 10, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr4:88537737
GRCh38:
Chr4:87616585
DSPPnot specifiedGMAF:0.14460(G)Benign
(Jun 26, 2015)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr4:88537268-88537420
DSPPDuctal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
35.
GRCh37:
Chr4:88537276-88537405
DSPPDuctal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
36.
GRCh37:
Chr4:69551806-96215607
GRCh38:
Chr4:68686088-95294456
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EREG, FGF5, GC, GK2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, JCHAIN, CXCL8, CXCL10, CXCL9, AFF1, MUC7, NKX6-1, PF4, PF4V1, PKD2, PPEF2, PPBP, PRKG2, MAPK10, PTPN13, CXCL6, CXCL11, CXCL5, SNCA, SPP1, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, ABCG2, ADAMTS3, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PDLIM5, UGT2B11, HPSE, SMR3B, NPFFR2, PPBPP2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, PARM1, RCHY1, ANKRD17, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, BMP2K, SEPT11, SMARCAD1, MEPE, PRDM8, UTP3, KLHL8, SHROOM3, ENOPH1, OPRPN, MRPL1, THAP9, UGT2A3, SCD5, FRAS1, ARHGAP24, FAM175A, NAA11, GPAT3, PIGY, CABS1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, C4orf36, PAQR3, THAP6, C4orf26, PPM1K, RASGEF1B, TIGD2, RASSF6, CNOT6L, C4orf22, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, CCDC158, SOWAHB, SLC10A6, HSD17B13, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LOC441025, TMEM150C, UGT2A2, SNCA-AS1, MIR575, LOC728040, PPBPP1, FAM47E, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506746, BMPR1B-AS1, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4452, FAM47E-STBD1, MIR5705, RNU6-33P, PYURF, LOC101928809, LOC101928942, LOC101928978, LOC101929064, LOC101929134, LOC101929194, LOC101929210, LOC105369192, LOC105377267, SNORD143, SNORD144
See casesPathogenic
(Jun 11, 2013)
no assertion criteria provided
37.
GRCh37:
Chr4:86370518-94894345
GRCh38:
Chr4:85449365-93973194
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
38.
GRCh37:
Chr4:81348177-101776598
GRCh38:
Chr4:80427023-100855441
See casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
39.
GRCh37:
Chr4:85250704-88600356
GRCh38:
Chr4:84329551-87679204
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
40.
GRCh37:
Chr4:81800931-95730598
GRCh38:
Chr4:80879777-94809447
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
41.
GRCh37:
Chr4:87988567-89079428
GRCh38:
Chr4:87067415-88158276
See casesUncertain significance
(Aug 19, 2010)
no assertion criteria provided
42.
GRCh37:
Chr4:80496902-93333600
GRCh38:
Chr4:79575748-92412449
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
43.
GRCh37:
Chr4:74897112-91342278
GRCh38:
Chr4:74031395-90421127
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CENPC, COX7A2P2, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EPHA5, EREG, FGF5, GC, GK2, GNRHR, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, IGFBP7, JCHAIN, CXCL8, CXCL10, KDR, KIT, CXCL9, AFF1, MUC7, NKX6-1, PDGFRA, PDHA2, PF4, PF4V1, PKD2, POLR2B, PPEF2, PPAT, PPBP, PRKG2, MAPK10, PTPN13, REST, CXCL6, CXCL11, CXCL5, SGCB, SNCA, SPINK2, SPP1, SRP72, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, TMPRSS11D, ABCG2, ADAMTS3, CLOCK, CEP135, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PAICS, PDLIM5, UGT2B11, HPSE, NMU, SMR3B, NPFFR2, PPBPP2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, DCUN1D4, ADGRL3, PARM1, RCHY1, ANKRD17, STAP1, CHIC2, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, TMPRSS11E, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, UBA6, BMP2K, SEPT11, EXOC1, TMEM165, SMARCAD1, MEPE, PRDM8, UTP3, DANCR, KIAA1211, KLHL8, SHROOM3, ENOPH1, OPRPN, USP46, MRPL1, RASL11B, SRD5A3, THAP9, UGT2A3, SCD5, FRAS1, FIP1L1, ARHGAP24, FAM175A, NOA1, HOPX, LNX1, NAA11, GPAT3, PIGY, CABS1, YTHDC1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, SPATA18, TMPRSS11B, ARL9, AASDH, PDCL2, C4orf36, PAQR3, LINC01618, SCFD2, THAP6, C4orf26, PPM1K, RASGEF1B, TIGD2, RASSF6, GSX2, CNOT6L, TECRL, C4orf22, IGFBP7-AS1, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, STPG2, CCDC158, TMPRSS11A, GCOM2, LRRC66, LOC339978, SOWAHB, SLC10A6, HSD17B13, TMPRSS11F, LOC401134, SYT14P1, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LOC441025, TMEM150C, UBA6-AS1, LOC550113, UGT2A2, USP46-AS1, SNCA-AS1, SNORA26, MIR575, LOC728040, PPBPP1, FAM47E, EPHA5-AS1, ERVMER34-1, MIR1269A, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506444, SRD5A3-AS1, THEGL, LOC100506746, BMPR1B-AS1, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4449, MIR548AG1, MIR4452, FAM47E-STBD1, MIR5705, RNU6-33P, RNU6-34P, LNX1-AS1, LNX1-AS2, PYURF, STPG2-AS1, ADGRL3-AS1, LOC101927237, LOC101928809, LOC101928851, LOC101928942, LOC101928978, LOC101929064, LOC101929134, LNCPRESS2, LOC101929210, LOC105369192, LOC105377245, LOC105377247, LOC105377267, LOC105377671, SNORD143, SNORD144
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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