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Items: 1 to 100 of 285

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ELNSupravalvar aortic stenosisPathogenic
(Mar 1, 2010)
no assertion criteria provided
2.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Apr 15, 2008)
no assertion criteria provided
3.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Mar 1, 2006)
no assertion criteria provided
4.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Mar 1, 2006)
no assertion criteria provided
5.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Jun 1, 2005)
no assertion criteria provided
6.
ELNSupravalvar aortic stenosisPathogenic
(Nov 1, 2001)
no assertion criteria provided
7.
ELNSupravalvar aortic stenosisPathogenic
(Apr 1, 1999)
no assertion criteria provided
8.
ELNSupravalvar aortic stenosisPathogenic
(Feb 1, 1999)
no assertion criteria provided
9.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Jan 8, 1999)
no assertion criteria provided
10.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Jun 1, 1998)
no assertion criteria provided
11.
ELNCutis laxa, autosomal dominant 1Pathogenic
(Mar 1, 1995)
no assertion criteria provided
12.
ELNSupravalvar aortic stenosisPathogenic
(Jul 1, 1997)
no assertion criteria provided
13.
ELNSupravalvar aortic stenosisPathogenic
(Jul 1, 1997)
no assertion criteria provided
14.
ELNSupravalvar aortic stenosisPathogenic
(Jul 1, 1997)
no assertion criteria provided
15.
ELNSupravalvar aortic stenosisPathogenic
(Sep 1, 1995)
no assertion criteria provided
16.
ELNSupravalvar aortic stenosisPathogenic
(Mar 1, 1994)
no assertion criteria provided
17.
GRCh37:
Chr7:12258147-140494267
ACHE, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK6, CFTR, CHN2, CHRM2, AP1S1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, ETV1, EVX1, FLNC, GARS, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, IRF5, ITGB8, KCND2, LAMB1, LEP, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTN, PTPN12, PTPRZ1, PURB, RALA, RFC2, RNU2-1, RP9, CCL24, SFRP4, SLC13A1, SMO, SP4, SPAM1, SRI, AKR1D1, SRPK2, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, WNT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, ST7, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, BCL7B, ATP6V1F, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, HDAC9, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, DBF4, COPS6, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, DPY19L1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, AUTS2, TES, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, SND1, VPS41, TSPAN13, DENND2A, BBS9, CRCP, RABGEF1, POLM, PCLO, BZW2, DBNL, WDR91, NPC1L1, SNX10, TRA2A, HILPDA, MDFIC, PILRA, FSCN3, ERVW-1, ATP6V0A4, PNPLA8, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, ZNF107, ZC3HC1, SRRT, UBE2D4, LUC7L2, STYXL1, ASB4, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, CHCHD3, FKBP14, ZCWPW1, TMEM248, RBM28, TYW1, C7orf43, TMEM140, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, ANKRD7, ZC3HAV1, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, RHBDD2, STRIP2, CCDC146, KIAA1549, GATAD1, NFE4, MYL7, EXOC4, RINT1, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, C7orf49, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, CPED1, TTC26, C7orf69, ORAI2, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, GTF2IRD2, MINDY4, SLC37A3, DNAJC30, FAM126A, FAM71F1, PLEKHA8, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, DTX2, BUD23, TSGA13, MALSU1, TMEM270, TRIM50, COL26A1, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, METTL27, VPS37D, AGR3, ZNF92, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ZNF800, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, C7orf71, SPDYE1, SNHG15, ZNF789, LSMEM1, MESTIT1, ST7-OT4, ZNF680, ABCB5, FAM221A, TSPAN33, AGBL3, SEPT14, MACC1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, GJC3, GATS, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, AGMO, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, ZNF727, SPDYE5, LMOD2, MIR335, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, STMP1, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SMKR1, SPDYE2B, HOTTIP, SAP25, LINC00972, LRRC72, HOTAIRM1, ATP5MF-PTCD1, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
Pleomorphic xanthoastrocytomaPathogenicno assertion criteria provided
18.
GRCh37:
Chr7:72718278-74140708
Autism spectrum disordersPathogenic
(Oct 12, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr7:73442448
GRCh38:
Chr7:74028118
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr7:73442480
GRCh38:
Chr7:74028150
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr7:73442519
GRCh38:
Chr7:74028189
ELNnot providedPathogenic
(Mar 20, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr7:73442523
GRCh38:
Chr7:74028193
ELNnot specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr7:73442551
GRCh38:
Chr7:74028221
ELNnot specifiedUncertain significance
(Jan 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr7:73442560
GRCh38:
Chr7:74028230
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
25.
GRCh37:
Chr7:73449742
GRCh38:
Chr7:74035412
ELNSupravalvar aortic stenosisPathogenic
(Mar 19, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr7:73449760
GRCh38:
Chr7:74035430
ELNnot specifiedLikely benigncriteria provided, single submitter
27.
GRCh37:
Chr7:73450881
GRCh38:
Chr7:74036551
ELNSupravalvar aortic stenosisLikely benign
(Mar 5, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr7:73450896
GRCh38:
Chr7:74036566
ELNnot specifiedUncertain significance
(Aug 23, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr7:73450927
GRCh38:
Chr7:74036597
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr7:73452035
GRCh38:
Chr7:74037705
ELNnot providedLikely pathogenic
(Dec 22, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr7:73455561
GRCh38:
Chr7:74041231
ELNSupravalvar aortic stenosis, not specified, Supravalvular aortic stenosis,
Cutis laxa, autosomal dominant
Benign/Likely benign
(Jul 1, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:73455584
GRCh38:
Chr7:74041254
ELNnot specifiedLikely benign
(Apr 4, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr7:73456970
GRCh38:
Chr7:74042640
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr7:73457294
GRCh38:
Chr7:74042964
ELNnot specifiedLikely benigncriteria provided, single submitter
35.
GRCh37:
Chr7:73457314
GRCh38:
Chr7:74042984
ELNSupravalvar aortic stenosis, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Uncertain significance
(Aug 2, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:73457316
GRCh38:
Chr7:74042986
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Conflicting interpretations of pathogenicity
(Jan 5, 2017)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr7:73457354
GRCh38:
Chr7:74043024
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Likely benign
(Oct 28, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:73457488
GRCh38:
Chr7:74043158
ELNSupravalvar aortic stenosisPathogenic
(Feb 15, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr7:73457506
GRCh38:
Chr7:74043176
ELNSupravalvar aortic stenosis, not specified, Supravalvular aortic stenosis,
Cutis laxa, autosomal dominant
Benign/Likely benign
(Jan 11, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:73458216
GRCh38:
Chr7:74043886
ELNSupravalvar aortic stenosisPathogenic
(Jan 4, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr7:73458231
GRCh38:
Chr7:74043901
ELNnot providedPathogenic
(Aug 17, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr7:73458231
GRCh38:
Chr7:74043901
ELNSupravalvar aortic stenosisPathogenic
(Dec 1, 2000)
no assertion criteria provided
43.
GRCh37:
Chr7:73458255
GRCh38:
Chr7:74043925
ELNnot specifiedUncertain significance
(Mar 8, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr7:73459542
GRCh38:
Chr7:74045212
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Conflicting interpretations of pathogenicity
(Nov 18, 2016)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr7:73459559
GRCh38:
Chr7:74045229
ELNnot providedPathogenic
(Sep 25, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr7:73459575
GRCh38:
Chr7:74045245
ELNSupravalvar aortic stenosis, not specifiedBenign
(Feb 24, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:73459608
GRCh38:
Chr7:74045278
ELNSupravalvar aortic stenosisPathogenic
(Dec 1, 2000)
no assertion criteria provided
48.
GRCh37:
Chr7:73459610
GRCh38:
Chr7:74045280
ELNnot specifiedLikely benign
(Feb 2, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr7:73460554
GRCh38:
Chr7:74046224
ELNnot specifiedUncertain significance
(Jun 15, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr7:73461044
GRCh38:
Chr7:74046714
ELNnot providedPathogenic
(Jun 11, 2011)
criteria provided, single submitter
51.
GRCh37:
Chr7:73461048
GRCh38:
Chr7:74046718
ELNnot specifiedUncertain significance
(Jan 10, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr7:73461062
GRCh38:
Chr7:74046732
ELNSupravalvar aortic stenosisPathogenic
(Apr 26, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr7:73461072
GRCh38:
Chr7:74046742
ELNnot providedLikely pathogenic
(Dec 4, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr7:73461085
GRCh38:
Chr7:74046755
ELNnot providedPathogenic
(Aug 10, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr7:73461098
GRCh38:
Chr7:74046768
ELNnot providedLikely pathogenic
(Sep 29, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr7:73461997
GRCh38:
Chr7:74047667
ELNnot specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr7:73462008
GRCh38:
Chr7:74047678
ELNnot specifiedUncertain significance
(Dec 12, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr7:73462020
GRCh38:
Chr7:74047690
ELNnot provided, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr7:73462047-73462051
GRCh38:
Chr7:74047717-74047721
ELNnot specifiedUncertain significance
(Mar 23, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr7:73462514-73462515
GRCh38:
Chr7:74048184-74048185
ELNnot providedLikely pathogenic
(Feb 12, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr7:73462527
GRCh38:
Chr7:74048197
ELNSupravalvar aortic stenosisLikely pathogenic
(May 27, 2011)
criteria provided, single submitter
62.
GRCh37:
Chr7:73462846-73462847
GRCh38:
Chr7:74048516-74048517
ELNAscending aortic aneurysm, AneurysmUncertain significance
(May 27, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr7:73466077
GRCh38:
Chr7:74051747
ELNSupravalvar aortic stenosis, not providedPathogenic
(Feb 24, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:73466078
GRCh38:
Chr7:74051748
ELNSupravalvar aortic stenosisPathogenic
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:73466128
GRCh38:
Chr7:74051798
ELNnot providedPathogenic
(Sep 22, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr7:73466141
GRCh38:
Chr7:74051811
ELNSupravalvar aortic stenosis, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr7:73466142
GRCh38:
Chr7:74051812
ELNSupravalvar aortic stenosis, not providedPathogenic
(Jun 25, 2014)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:73466166
GRCh38:
Chr7:74051836
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr7:73466170
GRCh38:
Chr7:74051840
ELNnot providedLikely pathogenic
(May 4, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr7:73466171
GRCh38:
Chr7:74051841
ELNSupravalvar aortic stenosisPathogenic
(Jun 16, 2011)
criteria provided, single submitter
71.
GRCh37:
Chr7:73466252
GRCh38:
Chr7:74051922
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
72.
GRCh37:
Chr7:73466256
GRCh38:
Chr7:74051926
ELNSupravalvar aortic stenosis, not specifiedBenign
(Feb 24, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:73466277
GRCh38:
Chr7:74051947
ELNSupravalvar aortic stenosisUncertain significance
(May 7, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr7:73466278-73466294
GRCh38:
Chr7:74051948-74051964
ELNCutis laxa, autosomal dominant 1Pathogenic
(Nov 3, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr7:73466285
GRCh38:
Chr7:74051955
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr7:73466294
GRCh38:
Chr7:74051964
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr7:73466295
GRCh38:
Chr7:74051965
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr7:73467684-73467689
GRCh38:
Chr7:74053354-74053359
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantBenign
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr7:73467684-73467689
GRCh38:
Chr7:74053354-74053359
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr7:73467686-73467689
GRCh38:
Chr7:74053356-74053359
ELNnot specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr7:73467686-73467689
GRCh38:
Chr7:74053356-74053359
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr7:73467688-73467689
GRCh38:
Chr7:74053358-74053359
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr7:73467688-73467689
GRCh38:
Chr7:74053358-74053359
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr7:73469045
GRCh38:
Chr7:74054715
ELNSupravalvar aortic stenosisPathogenic
(Nov 29, 2013)
criteria provided, single submitter
85.
GRCh37:
Chr7:73469050
GRCh38:
Chr7:74054720
ELNnot providedPathogenic
(May 13, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr7:73469062
GRCh38:
Chr7:74054732
ELNSupravalvar aortic stenosisPathogenic
(Aug 23, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr7:73469100
GRCh38:
Chr7:74054770
ELNSupravalvar aortic stenosis, not providedPathogenic
(May 19, 2015)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr7:73470603
GRCh38:
Chr7:74056273
ELNSupravalvar aortic stenosisLikely pathogenic
(Sep 28, 2011)
criteria provided, single submitter
89.
GRCh37:
Chr7:73470611
GRCh38:
Chr7:74056281
ELNnot providedPathogenic
(Jan 16, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr7:73470620
GRCh38:
Chr7:74056290
ELNSupravalvar aortic stenosisLikely benign
(Aug 11, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr7:73470645
GRCh38:
Chr7:74056315
ELNnot providedPathogenic
(Dec 24, 2013)
criteria provided, single submitter
92.
GRCh37:
Chr7:73470658
GRCh38:
Chr7:74056328
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
93.
GRCh37:
Chr7:73470682
GRCh38:
Chr7:74056352
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr7:73470683
GRCh38:
Chr7:74056353
ELNnot specifiedLikely benign
(Nov 20, 2012)
criteria provided, single submitter
95.
GRCh37:
Chr7:73470684
GRCh38:
Chr7:74056354
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr7:73470713-73470714
GRCh38:
Chr7:74056383-74056384
ELNnot specifiedLikely benign
(Jan 5, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr7:73470714
GRCh38:
Chr7:74056384
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:73470719
GRCh38:
Chr7:74056389
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr7:73470719
GRCh38:
Chr7:74056389
ELNnot specified, Supravalvular aortic stenosis, Cutis laxa, autosomal dominant
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr7:73470721
GRCh38:
Chr7:74056391
ELNSupravalvular aortic stenosis, Cutis laxa, autosomal dominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
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