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Items: 1 to 100 of 293

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
COL1A1Ehlers-Danlos syndrome, type 7APathogenic
(May 15, 2008)
no assertion criteria provided
2.
COL1A1Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type IPathogenic
(Apr 1, 2004)
no assertion criteria provided
3.
COL1A1Osteogenesis imperfecta with normal sclerae, dominant formPathogenic
(Nov 1, 1996)
no assertion criteria provided
4.
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Mar 21, 2003)
no assertion criteria provided
5.
COL1A1Osteogenesis imperfecta with normal sclerae, dominant formPathogenic
(Aug 1, 1999)
no assertion criteria provided
6.
COL1A1Ehlers-Danlos syndrome, type 7APathogenic
(Oct 3, 1997)
no assertion criteria provided
7.
COL1A1Osteogenesis imperfecta type IIIPathogenic
(Apr 1, 2004)
no assertion criteria provided
8.
COL1A1Osteogenesis imperfecta type IPathogenic
(Oct 1, 1993)
no assertion criteria provided
9.
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jan 1, 1993)
no assertion criteria provided
10.
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Feb 5, 1990)
no assertion criteria provided
11.
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Sep 1, 1990)
no assertion criteria provided
12.
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Oct 13, 2016)
no assertion criteria provided
13.
COL1A1Osteogenesis imperfecta type IIIPathogenic
(Sep 27, 2013)
no assertion criteria provided
14.
GRCh37:
Chr17:17711738-217748468
AANAT, ACACA, ASIC2, ACLY, ACOX1, ACTG1, AP2B1, ALDH3A1, ALDH3A2, ALDOC, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5G1, ATP6V0A1, BLMH, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD7, CD79B, CDC6, CDC27, CDK3, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CPD, CRHR1, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DRG2, DUSP3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, UTS2R, GPS1, GRB2, GRB7, GRN, GRIN2C, H3F3B, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, OMG, P4HB, PDE6G, PDK2, PECAM1, PEX12, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RFNG, RPL19, RPL23A, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, SRSF1, SRSF2, SGCA, SGSH, SHC1P2, SHMT1, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TRQ-TTG1-1, DNAJC7, TUBG1, UBTF, VTN, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, FOXN1, PPM1D, CNTNAP1, DGKE, CBX4, TCAP, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, SPAG9, SLC13A2, UNC119, MTMR4, SLC16A6, SLC16A5, SLC16A3, SYNGR2, HGS, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, PGS1, TBX4, NPEPPS, GOSR1, CCL4L2, GOSR2, NR1D1, TRAF4, AATK, KIAA0100, ULK2, TBKBP1, TMEM94, EIF4A3, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, BAIAP2, ATP5H, HOXB13, VAT1, APPBP2, FBXW10, P3H4, ST6GALNAC2, HEXIM1, SPAG5, IGF2BP1, GNA13, CCT6B, RAI1, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, EPN2, CEP131, SARM1, GPATCH8, GGA3, JMJD6, EXOC7, USP22, KCNH4, ABCA6, ABCA5, KCTD2, SUZ12, MMD, WBP2, CDC42EP4, PPY2P, PYY2, FSCN2, NOL11, DHRS7B, KRT23, TMEM98, POLDIP2, TBC1D29, TANC2, WSB1, NAT9, PITPNC1, ERAL1, NARF, AATF, OR4D1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, SAP30BP, PSMC3IP, SNX11, TBX21, NT5C, SOCS7, CDR2L, SOST, TVP23B, MRPS7, UTP18, RNFT1, HN1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, NLK, LUC7L3, HIGD1B, CDK12, KRT20, NLE1, SDK2, FNDC8, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLFN12, PNPO, KLHL11, SMG8, SLC47A1, TMEM100, RHOT1, RSAD1, COPRS, LRRC59, NPLOC4, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, CA10, ATXN7L3, CCDC47, PLXDC1, LYZL6, CBX8, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, TAOK1, BAHCC1, USP36, ARHGAP23, PHF12, RNF213, TNRC6C, PCTP, SCPEP1, SLC25A19, FKBP10, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, DNAI2, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, GID4, ASPSCR1, TMUB2, CARD14, DHX58, MMP28, DHRS11, MFSD11, PRR15L, C17orf62, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, DRC3, TTC25, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, RNF135, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, RAB11FIP4, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, CBX2, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, PIGS, TTYH2, HSPB9, ORMDL3, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, EFCAB13, MRPL10, TBC1D16, AFMID, GJD3, KRT222, KRT40, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, TCAM1P, EFCAB3, SLC47A2, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, SLFN5, NAGS, FAM134C, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, CENPX, LRRC45, SLC39A11, NOS2P2, TRIM65, UNC13D, RDM1, GAS2L2, STH, STXBP4, TBC1D28, TAC4, MYADML2, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, PTRF, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, KLHL10, RAB37, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, ZACN, KRT26, PRAC2, HILS1, EFCAB5, LRRC37A3, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, CCL3P1, ARL5C, KRT39, MYO18A, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR144, MIR152, MIR193A, MIR196A1, MIR21, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, FAM83G, EVPLL, NOS2P1, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, KRTAP9-6, PTGES3L, PTGES3L-AARSD1, LOC101927666
Smith-Magenis syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr17:48261476-48261479
GRCh38:
Chr17:50184115-50184118
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:48261539
GRCh38:
Chr17:50184178
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:48261598
GRCh38:
Chr17:50184237
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00640(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:48261630
GRCh38:
Chr17:50184269
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00640(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:48261658
GRCh38:
Chr17:50184297
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr17:48261688
GRCh38:
Chr17:50184327
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.02820(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:48261698
GRCh38:
Chr17:50184337
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00160(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:48261776
GRCh38:
Chr17:50184415
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:48261818
GRCh38:
Chr17:50184457
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:48261832-48261834
GRCh38:
Chr17:50184471-50184473
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr17:48261832-48261833
GRCh38:
Chr17:50184471-50184472
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:48261834-48261835
GRCh38:
Chr17:50184473-50184474
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:48261835-48261837
GRCh38:
Chr17:50184474-50184476
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:48261836
GRCh38:
Chr17:50184475
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr17:48261855-48261856
GRCh38:
Chr17:50184494-50184495
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr17:48261864-48261865
GRCh38:
Chr17:50184503-50184504
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:48261882
GRCh38:
Chr17:50184521
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:48262048
GRCh38:
Chr17:50184687
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:48262068
GRCh38:
Chr17:50184707
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:48262119
GRCh38:
Chr17:50184758
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.13120(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr17:48262130
GRCh38:
Chr17:50184769
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr17:48262149
GRCh38:
Chr17:50184788
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:48262181-48262182
GRCh38:
Chr17:50184820-50184821
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.41970(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:48262181
GRCh38:
Chr17:50184820
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr17:48262232
GRCh38:
Chr17:50184871
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr17:48262240
GRCh38:
Chr17:50184879
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:48262426
GRCh38:
Chr17:50185065
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr17:48262485
GRCh38:
Chr17:50185124
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00140(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:48262603-48262604
GRCh38:
Chr17:50185242-50185243
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr17:48262605-48262606
GRCh38:
Chr17:50185244-50185245
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:48262605
GRCh38:
Chr17:50185244
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:48262608
GRCh38:
Chr17:50185247
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:48262612
GRCh38:
Chr17:50185251
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr17:48262617-48262618
GRCh38:
Chr17:50185256-50185257
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:48262618
GRCh38:
Chr17:50185257
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr17:48262619-48262621
GRCh38:
Chr17:50185258-50185260
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.39180(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr17:48262619-48262620
GRCh38:
Chr17:50185258-50185259
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.39180(-)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr17:48262648
GRCh38:
Chr17:50185287
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr17:48262661
GRCh38:
Chr17:50185300
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00060(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr17:48262669
GRCh38:
Chr17:50185308
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:48262775
GRCh38:
Chr17:50185414
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.37860(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:48262842
GRCh38:
Chr17:50185481
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00040(G)
GO-ESP:0.00003(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr17:48262867
GRCh38:
Chr17:50185506
COL1A1Osteogenesis imperfecta type IIIPathogenic
(Jan 1, 1996)
no assertion criteria provided
58.
GRCh37:
Chr17:48262886
GRCh38:
Chr17:50185525
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GMAF:0.00020(T)
GO-ESP:0.00004(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr17:48262896-48262900
GRCh38:
Chr17:50185535-50185539
COL1A1Osteogenesis imperfecta type IPathogenic
(Jan 1, 1990)
no assertion criteria provided
60.
GRCh37:
Chr17:48262919
GRCh38:
Chr17:50185558
COL1A1not specifiedUncertain significance
(Jan 24, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr17:48263021
GRCh38:
Chr17:50185660
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, not specified,
Osteogenesis Imperfecta, Dominant
GMAF:0.48500(T)Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:48263140
GRCh38:
Chr17:50185779
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Sep 1, 2011)
no assertion criteria provided
63.
GRCh37:
Chr17:48263206
GRCh38:
Chr17:50185845
COL1A1not specifiedLikely benign
(Jan 16, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr17:48263208
GRCh38:
Chr17:50185847
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, not specified,
Osteogenesis Imperfecta, Dominant
GMAF:0.00420(A)
GO-ESP:0.00316(A)
Conflicting interpretations of pathogenicity
(Oct 28, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr17:48263227
GRCh38:
Chr17:50185866
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Sep 1, 2011)
no assertion criteria provided
66.
GRCh37:
Chr17:48263247
GRCh38:
Chr17:50185886
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:48263274
GRCh38:
Chr17:50185913
COL1A1not specifiedBenign
(Oct 24, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr17:48263277
GRCh38:
Chr17:50185916
COL1A1not providedPathogenic
(Feb 27, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr17:48263295
GRCh38:
Chr17:50185934
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr17:48263369
GRCh38:
Chr17:50186008
COL1A1not providedGMAF:0.00040(T)
GO-ESP:0.00073(T)
Uncertain significance
(Jan 21, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr17:48263370
GRCh38:
Chr17:50186009
COL1A1not specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr17:48263390
GRCh38:
Chr17:50186029
COL1A1Osteogenesis imperfectaUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
73.
GRCh37:
Chr17:48263704
GRCh38:
Chr17:50186343
COL1A1not specifiedUncertain significance
(Jan 17, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr17:48263744
GRCh38:
Chr17:50186383
COL1A1Osteogenesis imperfecta type IPathogenic
(Sep 16, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr17:48263747
GRCh38:
Chr17:50186386
COL1A1Osteogenesis imperfecta type 2, thin-bonePathogenic
(Nov 1, 1996)
no assertion criteria provided
76.
GRCh37:
Chr17:48263748
GRCh38:
Chr17:50186387
COL1A1Osteogenesis imperfecta type ILikely pathogenicno assertion criteria provided
77.
GRCh37:
Chr17:48263786
GRCh38:
Chr17:50186425
COL1A1Infantile cortical hyperostosis, Osteogenesis imperfecta, Ehlers-Danlos syndrome, type 7A,
not provided, Osteogenesis Imperfecta, Dominant
GO-ESP:0.00577(A)
GMAF:0.00640(A)
GO-ESP:0.00177(A)
Benign/Likely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:48263880
GRCh38:
Chr17:50186519
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GO-ESP:0.00018(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr17:48264049
GRCh38:
Chr17:50186688
COL1A1not specifiedGMAF:0.00100(T)
GO-ESP:0.00027(T)
Likely benign
(Aug 22, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr17:48264054
GRCh38:
Chr17:50186693
COL1A1not specifiedGO-ESP:0.00256(G)Uncertain significance
(Sep 30, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr17:48264082
GRCh38:
Chr17:50186721
COL1A1not specifiedGMAF:0.00020(A)
GO-ESP:0.00003(A)
Uncertain significance
(May 19, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr17:48264185
GRCh38:
Chr17:50186824
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, Osteogenesis Imperfecta, Dominant
GO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr17:48264193
GRCh38:
Chr17:50186832
COL1A1not providedLikely pathogeniccriteria provided, single submitter
84.
GRCh37:
Chr17:48264248
GRCh38:
Chr17:50186887
COL1A1Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type IPathogenic
(Aug 6, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr17:48264250
GRCh38:
Chr17:50186889
COL1A1not specifiedUncertain significance
(Nov 28, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr17:48264256
GRCh38:
Chr17:50186895
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Sep 27, 2013)
no assertion criteria provided
87.
GRCh37:
Chr17:48264264
GRCh38:
Chr17:50186903
COL1A1OSTEOGENESIS IMPERFECTA, TYPE IICPathogenic
(Feb 1, 1992)
no assertion criteria provided
88.
GRCh37:
Chr17:48264274
GRCh38:
Chr17:50186913
COL1A1Osteogenesis imperfecta, recessive perinatal lethalGO-ESP:0.00001(T)Pathogenic
(Jan 11, 1996)
no assertion criteria provided
89.
GRCh37:
Chr17:48264366
GRCh38:
Chr17:50187005
COL1A1not specifiedGMAF:0.00600(T)
GO-ESP:0.00508(T)
Benign
(Apr 3, 2015)
criteria provided, single submitter
90.
GRCh37:
Chr17:48264411
GRCh38:
Chr17:50187050
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Aug 1, 1986)
no assertion criteria provided
91.
GRCh37:
Chr17:48264428
GRCh38:
Chr17:50187067
COL1A1not providedPathogenic
(Aug 18, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr17:48264448
GRCh38:
Chr17:50187087
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, not specified,
Osteogenesis Imperfecta, Dominant
GMAF:0.04670(G)
GO-ESP:0.01935(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:48264455
GRCh38:
Chr17:50187094
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Feb 1, 1992)
no assertion criteria provided
94.
GRCh37:
Chr17:48264489
GRCh38:
Chr17:50187128
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, type 7A, not specified,
Osteogenesis Imperfecta, Dominant
GMAF:0.00020(T)
GO-ESP:0.00062(T)
Conflicting interpretations of pathogenicity
(Dec 6, 2016)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr17:48264847
GRCh38:
Chr17:50187486
COL1A1Osteogenesis imperfecta type IPathogenic
(Jan 1, 1997)
no assertion criteria provided
96.
GRCh37:
Chr17:48264853
GRCh38:
Chr17:50187492
COL1A1not providedPathogenic
(Jul 20, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr17:48265329
GRCh38:
Chr17:50187968
COL1A1Malignant tumor of prostateGO-ESP:0.00003(A)Uncertain significanceno assertion criteria provided
98.
GRCh37:
Chr17:48265335
GRCh38:
Chr17:50187974
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Sep 27, 2013)
no assertion criteria provided
99.
GRCh37:
Chr17:48265463
GRCh38:
Chr17:50188102
COL1A1not specifiedLikely benign
(Nov 30, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr17:48265474
GRCh38:
Chr17:50188113
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Oct 1, 1990)
no assertion criteria provided
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