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Items: 1 to 100 of 1150

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
MYH11Thoracic aortic aneurysm and aortic dissectionBenign
(Dec 27, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr16:1274615-19073133
ABAT, ABCA3, ADCY9, ABCC6, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, NDUFB10, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GRIN2A, GSPT1, HAGH, HMOX2, IGFALS, MEFV, CIITA, ABCC1, MYH11, NUBP1, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, RPS15A, SRL, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, SNN, PLA2G10, SOCS1, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, IFT140, TELO2, NUBP2, ZNF263, TRAP1, TBL3, RNPS1, PRSS21, PDXDC1, SMG1, CLUAP1, MAPK8IP3, ARL6IP1, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, RSL1D1, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, AMDHD2, PAM16, TXNDC11, NAGPA, BFAR, TNFRSF12A, MSRB1, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, CPPED1, ALG1, NMRAL1, TBC1D24, MRTFB, CASKIN1, CRAMP1, PRM3, PRSS22, XYLT1, MLST8, MMP25, TPSB2, HS3ST6, UNKL, MRPS34, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, TMC7, ATF7IP2, TEDC2, FAHD1, PRSS27, TRAF7, FLYWCH1, NUDT16L1, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, BMERB1, ZNF598, JPT2, SPSB3, TIGD7, SNX29, FLYWCH2, VASN, TSR3, RMI2, NTAN1, FOPNL, NOXO1, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, EME2, NLRC3, MEIOB, MPV17L, PRSS33, NOMO2, NPW, BRICD5, PGP, C16orf91, TMEM114, C16orf96, PRSS41, PTX4, BCAR4, NOMO3, SMIM22, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, SHISA9, SNHG9, CEMP1, TVP23A, MIR365A, MIR1225, NPIPA5, MTRNR2L4, CORO7-PAM16
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr16:1279324-31926800
COX6A2, CREBBP, CRYM, CTF1, ECI1, SEPTIN1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GFER, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KIF22, MAZ, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFAB1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PHKG2, PKD1, PLK1, PMM2, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, RBBP6, RPL3L, RPS2, RPS15A, ACSM3, SCNN1B, SCNN1G, SRL, SLC5A2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TBX6, ELOB, TFAP4, TGFB1I1, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, BCL7C, NPIPA1, TAOK2, SLC9A3R2, LITAF, MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, COQ7, IGSF6, BCKDK, ZNF267, CACNG3, CD2BP2, CDIPT, ERN2, TBL3, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, PDXDC1, SMG1, CLUAP1, GGA2, NPIPB3, MAPK8IP3, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ZNF629, NOMO1, TPSD1, QPRT, SRRM2, CARHSP1, RAB26, TMEM186, SH2B1, TBC1D10B, ZNF500, RSL1D1, SEZ6L2, NUPR1, LAT, TNRC6A, DEXI, C16orf72, ZC3H7A, PYCARD, UBN1, MYLPF, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, TEDC2, HSD3B7, FAHD1, YPEL3, TLCD3B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, BMERB1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, NLRC3, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16, ABAT, ABCA3, ADCY9, ALDOA, AQP8, ABCC6, ATP2A1, ATP6V0C, TNFRSF17, CCNF, CD19, CDR2, CLCN7, CLN3
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
GRCh37:
Chr16:1280042-33710558
ABAT, ABCA3, ADCY9, ALDOA, AQP8, ABCC6, ATP2A1, ATP6V0C, TNFRSF17, CCNF, CD19, CDR2, CLCN7, CLN3, COX6A2, CREBBP, CRYM, CTF1, ECI1, SEPTIN1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GFER, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KIF22, MAZ, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFAB1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PHKG2, PKD1, PLK1, PMM2, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, RBBP6, RPL3L, RPS2, RPS15A, ACSM3, SCNN1B, SCNN1G, SRL, SLC5A2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TBX6, ELOB, TFAP4, TGFB1I1, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, BCL7C, NPIPA1, TAOK2, SLC9A3R2, LITAF, MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, COQ7, IGSF6, BCKDK, ZNF267, CACNG3, CD2BP2, CDIPT, ERN2, TBL3, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, PDXDC1, SMG1, CLUAP1, GGA2, NPIPB3, MAPK8IP3, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ZNF629, NOMO1, TPSD1, QPRT, SRRM2, CARHSP1, TP53TG3, RAB26, TMEM186, SH2B1, TBC1D10B, ZNF500, RSL1D1, SEZ6L2, NUPR1, LAT, TNRC6A, DEXI, C16orf72, ZC3H7A, PYCARD, UBN1, MYLPF, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, TEDC2, HSD3B7, FAHD1, YPEL3, TLCD3B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, BMERB1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, NLRC3, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, TP53TG3C, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
HemimegalencephalyPathogenicno assertion criteria provided
5.
GRCh37:
Chr16:15797044
GRCh38:
Chr16:15703187
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:15797084
GRCh38:
Chr16:15703227
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:15797138-15797139
GRCh38:
Chr16:15703281-15703282
MYH11, NDE1Lissencephaly, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:15797186
GRCh38:
Chr16:15703329
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:15797207
GRCh38:
Chr16:15703350
MYH11, NDE1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:15797248
GRCh38:
Chr16:15703391
MYH11, NDE1Lissencephaly, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:15797271
GRCh38:
Chr16:15703414
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:15797304
GRCh38:
Chr16:15703447
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr16:15797329
GRCh38:
Chr16:15703472
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:15797372-15797373
GRCh38:
Chr16:15703515-15703516
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:15797428
GRCh38:
Chr16:15703571
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:15797459
GRCh38:
Chr16:15703602
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:15797620
GRCh38:
Chr16:15703763
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr16:15797786-15797790
GRCh38:
Chr16:15703929-15703933
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:15797811
GRCh38:
Chr16:15703954
MYH11, NDE1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:15797829
GRCh38:
Chr16:15703972
MYH11, NDE1not specifiedLikely benign
(Oct 12, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr16:15797835
GRCh38:
Chr16:15703978
MYH11, NDE1not specifiedBenign
(Sep 7, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr16:15797843
GRCh38:
Chr16:15703986
MYH11, NDE1Lissencephaly, Recessive, Cardiovascular phenotype, not specified,
Thoracic aortic aneurysm and aortic dissection
Benign/Likely benign
(Dec 28, 2012)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:15797870
GRCh38:
Chr16:15704013
MYH11, NDE1Wolff-Parkinson-White patternUncertain significance
(Jul 14, 2017)
no assertion criteria provided
24.
GRCh37:
Chr16:15797880
GRCh38:
Chr16:15704023
MYH11, NDE1not providedUncertain significance
(Aug 14, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr16:15797881
GRCh38:
Chr16:15704024
MYH11, NDE1Cardiovascular phenotype, Thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr16:15797893
GRCh38:
Chr16:15704036
MYH11, NDE1Cardiovascular phenotypeLikely benign
(Apr 1, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr16:15797894
GRCh38:
Chr16:15704037
MYH11, NDE1not specifiedLikely benign
(Jan 30, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr16:15797924
GRCh38:
Chr16:15704067
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Nov 30, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr16:15797928-15797929
GRCh38:
Chr16:15704071-15704072
MYH11, NDE1not providedUncertain significance
(May 3, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr16:15797938
GRCh38:
Chr16:15704081
MYH11, NDE1Cardiovascular phenotype, not specifiedLikely benign
(Dec 14, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:15797944
GRCh38:
Chr16:15704087
MYH11, NDE1Lissencephaly, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr16:15797967
GRCh38:
Chr16:15704110
MYH11, NDE1Connective tissue disorder, Cardiovascular phenotype, not specified,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Feb 14, 2018)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr16:15797971
GRCh38:
Chr16:15704114
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
Benign/Likely benign
(Sep 22, 2014)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:15797979
GRCh38:
Chr16:15704122
MYH11, NDE1not specifiedUncertain significance
(May 14, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr16:15802641
GRCh38:
Chr16:15708784
MYH11, NDE1not specifiedLikely benign
(Oct 2, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr16:15802663
GRCh38:
Chr16:15708806
MYH11, NDE1not specifiedBenigncriteria provided, single submitter
37.
GRCh37:
Chr16:15802674
GRCh38:
Chr16:15708817
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jul 15, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr16:15802675
GRCh38:
Chr16:15708818
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Jan 19, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr16:15802684
GRCh38:
Chr16:15708827
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Jun 5, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr16:15802685
GRCh38:
Chr16:15708828
MYH11, NDE1not provided, Aortic aneurysm, familial thoracic 4Uncertain significance
(Dec 6, 2015)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708830
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Nov 6, 2017)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708830
MYH11, NDE1Thoracic aortic aneurysm and aortic dissection, not providedUncertain significance
(Nov 7, 2018)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708830
MYH11, NDE1Thoracic aortic aneurysm and aortic dissection, not specified, Aortic aneurysm, familial thoracic 4
Likely benign
(Dec 25, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708830
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Mar 30, 2016)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr16:15802688
GRCh38:
Chr16:15708831
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Dec 4, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr16:15802689
GRCh38:
Chr16:15708832
MYH11, NDE1not specifiedLikely benign
(Jan 5, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr16:15802693
GRCh38:
Chr16:15708836
MYH11, NDE1not provided, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 1, 2018)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708837
MYH11, NDE1Chronic intestinal pseudoobstructionLikely pathogenic
(May 7, 2019)
no assertion criteria provided
49.
GRCh37:
Chr16:15802706-15802707
GRCh38:
Chr16:15708849-15708850
MYH11, NDE1not provided, Aortic aneurysm, familial thoracic 4, Thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Apr 10, 2017)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr16:15802706-15802709
GRCh38:
Chr16:15708849-15708852
MYH11, NDE1Connective tissue disorder, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Jan 11, 2013)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:15802707
GRCh38:
Chr16:15708850
MYH11, NDE1Thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Feb 10, 2017)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr16:15802717
GRCh38:
Chr16:15708860
MYH11, NDE1not specifiedLikely benign
(Aug 16, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr16:15808748
GRCh38:
Chr16:15714891
MYH11, NDE1not specifiedLikely benign
(Mar 6, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr16:15808754
GRCh38:
Chr16:15714897
MYH11, NDE1not specifiedLikely benign
(Nov 28, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr16:15808755
GRCh38:
Chr16:15714898
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissection, Lissencephaly, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr16:15808758-15808760
GRCh38:
Chr16:15714901-15714903
MYH11, NDE1not specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr16:15808778
GRCh38:
Chr16:15714921
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr16:15808780
GRCh38:
Chr16:15714923
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:15808785
GRCh38:
Chr16:15714928
MYH11, NDE1not providedUncertain significance
(Mar 7, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr16:15808785
GRCh38:
Chr16:15714928
MYH11, NDE1not providedUncertain significance
(Jul 4, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:15808791
GRCh38:
Chr16:15714934
MYH11, NDE1Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr16:15808792
GRCh38:
Chr16:15714935
MYH11, NDE1not specifiedLikely benign
(Mar 20, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr16:15808795
GRCh38:
Chr16:15714938
MYH11, NDE1Lissencephaly, Recessive, Cardiovascular phenotype, not specified,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:15808797
GRCh38:
Chr16:15714940
MYH11, NDE1not providedUncertain significance
(Sep 23, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr16:15808810
GRCh38:
Chr16:15714953
MYH11, NDE1Cardiovascular phenotype, Aortic aneurysm, familial thoracic 4Likely benign
(Dec 16, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:15808819
GRCh38:
Chr16:15714962
MYH11, NDE1Aortic aneurysm, familial thoracic 4, Cardiovascular phenotypeLikely benign
(Nov 3, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:15808820
GRCh38:
Chr16:15714963
MYH11, NDE1Aortic aneurysm, familial thoracic 4, Thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Mar 30, 2016)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr16:15808820
GRCh38:
Chr16:15714963
MYH11, NDE1not providedUncertain significance
(Aug 8, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr16:15808830
GRCh38:
Chr16:15714973
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Nov 1, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr16:15808839
GRCh38:
Chr16:15714982
MYH11, NDE1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Oct 24, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr16:15808856
GRCh38:
Chr16:15714999
MYH11, NDE1not provided, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Aug 15, 2017)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr16:15808861
GRCh38:
Chr16:15715004
MYH11, NDE1Cardiovascular phenotype, not specified, not provided,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Apr 15, 2013)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:15808868
GRCh38:
Chr16:15715011
MYH11, NDE1Cardiovascular phenotypeUncertain significance
(May 6, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr16:15808876
GRCh38:
Chr16:15715019
MYH11, NDE1not specified, Cardiovascular phenotype, not provided,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Dec 11, 2015)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:15808886
GRCh38:
Chr16:15715029
MYH11, NDE1not provided, Cardiovascular phenotype, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Mar 3, 2017)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:15808900
GRCh38:
Chr16:15715043
MYH11, NDE1Cardiovascular phenotype, Aortic aneurysm, familial thoracic 4Likely benign
(Jul 20, 2017)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:15808917
GRCh38:
Chr16:15715060
MYH11, NDE1Connective tissue disorder, not provided, Thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(May 8, 2017)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr16:15808938
GRCh38:
Chr16:15715081
MYH11, NDE1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 17, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr16:15808945
GRCh38:
Chr16:15715088
MYH11, NDE1Lissencephaly, Recessive, Aortic aneurysm, familial thoracic 4Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr16:15808946
GRCh38:
Chr16:15715089
MYH11, NDE1not provided, Aortic aneurysm, familial thoracic 4Likely benign
(Feb 27, 2017)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:15808956
GRCh38:
Chr16:15715099
MYH11, NDE1not specifiedLikely benign
(Jan 24, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr16:15809027
GRCh38:
Chr16:15715170
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 25, 2018)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:15809038
GRCh38:
Chr16:15715181
MYH11, NDE1Thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Apr 5, 2017)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:15809039
GRCh38:
Chr16:15715182
MYH11, NDE1Cardiovascular phenotype, not specified, Thoracic aortic aneurysm and aortic dissection
Benign/Likely benign
(Jun 23, 2015)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:15809048
GRCh38:
Chr16:15715191
MYH11, NDE1Thoracic aortic aneurysm and aortic dissection, not specifiedBenign/Likely benign
(Feb 22, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:15809049
GRCh38:
Chr16:15715192
MYH11, NDE1Lissencephaly, Recessive, Cardiovascular phenotype, not provided,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Aug 7, 2017)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr16:15809053
GRCh38:
Chr16:15715196
MYH11, NDE1not providedUncertain significance
(Jul 17, 2013)
criteria provided, single submitter
88.
GRCh37:
Chr16:15809061
GRCh38:
Chr16:15715204
MYH11, NDE1not providedUncertain significance
(Aug 22, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr16:15809068
GRCh38:
Chr16:15715211
NDE1, MYH11Connective tissue disorder, Lissencephaly, Recessive, Cardiovascular phenotype,
not specified, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr16:15809105
GRCh38:
Chr16:15715248
MYH11, NDE1Lissencephaly, Recessive, not provided, Thoracic aortic aneurysm and aortic dissection,
Cardiovascular phenotype, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr16:15809106
GRCh38:
Chr16:15715249
MYH11, NDE1Cardiovascular phenotype, not specifiedConflicting interpretations of pathogenicity
(Mar 22, 2016)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr16:15809117
GRCh38:
Chr16:15715260
MYH11, NDE1Lissencephaly, Recessive, Cardiovascular phenotype, not specified,
not provided, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Jul 17, 2015)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:15809118
GRCh38:
Chr16:15715261
MYH11, NDE1Connective tissue disorder, Lissencephaly, Recessive, Cardiovascular phenotype,
Thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr16:15809123
GRCh38:
Chr16:15715266
MYH11, NDE1Cardiovascular phenotypeLikely benign
(Oct 1, 2012)
criteria provided, single submitter
95.
GRCh37:
Chr16:15810989
GRCh38:
Chr16:15717132
MYH11, NDE1not specified, Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Jan 12, 2014)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:15810990
GRCh38:
Chr16:15717133
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Apr 3, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr16:15810990
GRCh38:
Chr16:15717133
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(May 1, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:15810991
GRCh38:
Chr16:15717134
MYH11, NDE1Thoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Dec 6, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:15811002
GRCh38:
Chr16:15717145
MYH11, NDE1Cardiovascular phenotype, not provided, not specified,
Thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(May 5, 2017)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr16:15811004
GRCh38:
Chr16:15717147
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Jul 5, 2018)
criteria provided, single submitter
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