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Items: 66

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:80648093-102429112
See casesPathogenicno assertion criteria provided
2.
GRCh37:
Chr15:89924847-102429112
See casesPathogenicno assertion criteria provided
3.
GRCh37:
Chr15:86148286-102511616
See casesPathogenicno assertion criteria provided
4.
GRCh37:
Chr15:20733395-102511616
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, NBEAP1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, KIAA1024, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, SCAND2P, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, HMGN2P46, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, C15orf52, TNFAIP8L3, C2CD4B, C15orf59, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, C15orf53, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, POTEB2, PWAR6, C15orf38-AP3S2, ST20-MTHFS, MYZAP, POTEB
See casesPathogenicno assertion criteria provided
5.
GRCh37:
Chr15:41745084-102354798
ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CAPN3, CHD2, CHRNA3, CHRNA5, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GALK2, GANC, GATM, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MFAP1, MFGE8, MPI, MYO1E, MYO5A, MYO9A, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, TCF12, NR2F2, TLE3, TP53BP1, TPM1, TYRO3, SLC30A4, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, SECISBP2L, PCLAF, LCMT2, SV2B, ARNT2, USP3, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, CEP152, MAPKBP1, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, KIAA1024, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, RSL24D1, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, SCAND2P, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, LINS1, FANCI, IMP3, LARP6, MNS1, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, C15orf39, THAP10, RGMA, WDR93, PARP6, DTWD1, FAM219B, ADAMTSL3, CEMIP, STARD9, ALPK3, ISLR2, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, SPPL2A, LINGO1, WDR73, CGNL1, FRMD5, UBL7, TICRR, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CASC4, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, ODF3L1, ADAL, ADAMTS17, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, PLA2G4F, LRRC57, LYSMD2, WDR72, SNX33, HMGN2P46, SLC24A5, PRTG, REC114, SAXO2, PLA2G4D, LINC00928, FAM169B, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, TNFAIP8L3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, ST20, FAM174B, DUOXA2, MIR184, MIR9-3, UNC13C, CKMT1A, CPLX3, SERINC4, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, JMJD7, PLA2G4B, C15orf38-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenicno assertion criteria provided
6.
GRCh37:
Chr15:85089467-102495441
See casesPathogenicno assertion criteria provided
7.
GRCh37:
Chr15:88295992-94215607
See casesPathogenicno assertion criteria provided
8.
GRCh37:
Chr15:59297293-102480888
ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, GTF2A2, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO1E, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, CCNB2, SLC28A1, SLC24A1, GCNT3, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, SLCO3A1, SCAPER, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, RNF111, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, C2CD4A, LYSMD4, FAM81A, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, C15orf38-AP3S2, ST20-MTHFS
not providedLikely pathogenic
(Jul 31, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:90321996
GRCh38:
Chr15:89778765
MESP2Jarcho-Levin syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:90321891
GRCh38:
Chr15:89778660
MESP2Jarcho-Levin syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:90321775
GRCh38:
Chr15:89778544
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr15:90321747
GRCh38:
Chr15:89778516
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr15:90321697-90321699
GRCh38:
Chr15:89778466-89778468
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr15:90321672
GRCh38:
Chr15:89778441
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr15:90321666
GRCh38:
Chr15:89778435
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr15:90321451
GRCh38:
Chr15:89778220
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr15:90320379
GRCh38:
Chr15:89777148
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:90320305
GRCh38:
Chr15:89777074
MESP2Jarcho-Levin syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr15:90320190
GRCh38:
Chr15:89776959
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr15:90320185
GRCh38:
Chr15:89776954
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:90320173
GRCh38:
Chr15:89776942
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr15:90320161
GRCh38:
Chr15:89776930
MESP2Jarcho-Levin syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:90320149
GRCh38:
Chr15:89776918
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr15:90320144
GRCh38:
Chr15:89776913
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr15:90320142
GRCh38:
Chr15:89776911
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr15:90319773
GRCh38:
Chr15:89776542
MESP2Jarcho-Levin syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:90320137
GRCh38:
Chr15:89776906
MESP2not specifiedLikely benign
(Jun 10, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr15:90319894
GRCh38:
Chr15:89776663
MESP2Jarcho-Levin syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr15:90320146-90320169
GRCh38:
Chr15:89776915-89776938
MESP2not specifiedBenign
(Dec 14, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr15:90320146-90320157
GRCh38:
Chr15:89776915-89776926
MESP2Jarcho-Levin syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:90321328
GRCh38:
Chr15:89778097
MESP2not specifiedLikely benigncriteria provided, single submitter
32.
GRCh37:
Chr15:90320496
GRCh38:
Chr15:89777265
MESP2Jarcho-Levin syndrome, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:90320473
GRCh38:
Chr15:89777242
MESP2not specifiedLikely benigncriteria provided, single submitter
34.
GRCh37:
Chr15:90320259
GRCh38:
Chr15:89777028
MESP2Jarcho-Levin syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr15:90320183-90320194
GRCh38:
Chr15:89776952-89776963
MESP2not specifiedLikely benigncriteria provided, single submitter
36.
GRCh37:
Chr15:90320159-90320170
GRCh38:
Chr15:89776928-89776939
MESP2not specifiedBenigncriteria provided, single submitter
37.
GRCh37:
Chr15:90320147-90320170
GRCh38:
Chr15:89776916-89776939
MESP2not specifiedBenigncriteria provided, single submitter
38.
GRCh37:
Chr15:90320146
GRCh38:
Chr15:89776915
MESP2Jarcho-Levin syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:90320135-90320170
GRCh38:
Chr15:89776904-89776939
MESP2not specifiedBenigncriteria provided, single submitter
40.
GRCh37:
Chr15:90320119
GRCh38:
Chr15:89776888
MESP2Jarcho-Levin syndrome, not specifiedBenign/Likely benign
(Sep 23, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr15:90320086
GRCh38:
Chr15:89776855
MESP2Jarcho-Levin syndrome, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:90320000
GRCh38:
Chr15:89776769
MESP2Jarcho-Levin syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr15:90319578
GRCh38:
Chr15:89776347
MESP2Jarcho-Levin syndrome, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:64637227-102509910
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, NR2F2, TLE3, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, SLCO3A1, SCAPER, RASL12, SPG21, NGRN, RHCG, HACD3, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, LRRK1, AAGAB, LMAN1L, PEAK1, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, FAM103A1, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, UBE2Q2, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA6L3, C15orf38-AP3S2, ST20-MTHFS
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, NEO1, NMB, NTRK3, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPS17, SH3GL3, SNRPA1, NR2F2, AP3B2, ST8SIA2, SEMA7A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, COX5A, STOML1, HOMER2, ZNF592, SV2B, ARNT2, HCN4, SCAMP2, SNUPN, TSPAN3, AP3S2, HMG20A, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, MORF4L1, ABHD2, ADAMTS7, AKAP13, CHSY1, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, FBXO22, VPS33B, MRPL46, NPTN, SLCO3A1, SCAPER, HDGFL3, NGRN, RHCG, BTBD1, TM6SF1, ZFAND6, SCAND2P, RPP25, COMMD4, ZSCAN2, DET1, LINS1, FANCI, IMP3, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, ISL2, TTC23, MRPS11, EFL1, NEIL1, LRRK1, LMAN1L, PEAK1, HEXA-AS1, CCDC33, EDC3, TM2D3, WDR61, CD276, STARD5, LINC00597, ADPGK, FAM103A1, MEX3B, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, ARRDC4, LINC00923, UBE2Q2, C15orf40, TARSL2, HIGD2B, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, LINC00924, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, GRAMD2A, CERS3, LINGO1-AS1, MIR9-3HG, SNX33, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, ARPIN, KIF7, ZNF710, HDDC3, C15orf59, SPATA41, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR7-2, MIR9-3, UBL7-AS1, GOLGA6L9, CPLX3, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, MIR549A, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100129540, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1179, MIR1469, PIRC76, MIR3174, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC00933, PRC1-AS1, LINC01578, LOC100507472, C15orf38-AP3S2, ST20-MTHFS, MIR4514, MIR4513, MIR3529, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, CTXND1, NPTN-IT1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, C15orf59-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6881, MIR6882, MIR7706, MIR6766, CERS3-AS1, LOC102723335, LINC02259, LOC102724034, LOC102724452, LOC103171574, IRAIN, LUNAR1, LOC104613533, TMEM202-AS1, LINC02255, LOC105370954, IDH2-DT, LINC02251, LINC02351, PCSK6-AS1, LOC105376731
See casesPathogenic
(Sep 18, 2012)
no assertion criteria provided
46.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, RNU5B-1, NPTN, FOXB1, SLCO3A1, SCAPER, HDGFL3, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, ANP32A-IT1, HEXA-AS1, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, LINC00597, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, CALML4, ARRDC4, LINC00923, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, HIGD2B, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LOC145694, C2CD4A, LYSMD4, PGPEP1L, LINC00924, DRAIC, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, MGC15885, LCTL, CERS3, SPESP1, LINGO1-AS1, MIR9-3HG, GOLGA2P11, SNX33, EWSAT1, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, C15orf59, SPATA41, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR190A, MIR7-2, MIR9-3, LINC00593, UBL7-AS1, GOLGA6L9, MIR422A, CPLX3, SNORD16, SNORD18A, SNORD18B, SNORD18C, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, SCARNA14, FBXO22-AS1, MIR549A, MIR629, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100128979, LOC100129540, USP3-AS1, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, TRQ-CTG1-4, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1272, MIR1179, MIR1469, PIRC76, MIR3174, MIR4311, MIR4312, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC02349, IQCH-AS1, LINC00933, PRC1-AS1, LINC01578, LOC100507472, C15orf38-AP3S2, ST20-MTHFS, MIR4512, MIR4514, MIR4513, MIR3529, MIR4511, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, RNU6-19P, CTXND1, RORA-AS2, NPTN-IT1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, RORA-AS1, LOC101928907, LOC101928988, LOC101929076, LINC02204, THSD4-AS2, THSD4-AS1, C15orf59-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6085, MIR6881, MIR6882, MIR7706, MIR8067, MIR6766, LINC01169, CERS3-AS1, LOC102723335, LINC02568, LINC02206, LOC102723493, LINC02259, LOC102724034, LOC102724452, LOC103171574, PCAT29, IRAIN, SALRNA3, SALRNA2, LUNAR1, LOC104613533, LINC02205, TMEM202-AS1, LINC02255, LOC105370954, IDH2-DT, LINC02251, LINC02351, PCSK6-AS1, LOC105376731, LOC107984784
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
47.
GRCh37:
Chr15:89219806-98907972
GRCh38:
Chr15:88676575-98364743
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
48.
GRCh37:
Chr15:90281955-90331282
GRCh38:
Chr15:89738724-89788051
ANPEP, MESP1, WDR93, MESP2See casesUncertain significance
(Nov 27, 2013)
no assertion criteria provided
49.
GRCh37:
Chr15:85940770-102429112
GRCh38:
Chr15:85397539-101888909
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
50.
GRCh37:
Chr15:86369896-102461201
GRCh38:
Chr15:85826665-101920998
See casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
51.
GRCh37:
Chr15:83528428-102351195
GRCh38:
Chr15:82859676-101810992
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
52.
GRCh37:
Chr15:84380129-102383473
GRCh38:
Chr15:83711377-101843270
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
53.
GRCh37:
Chr15:88447966-102383473
GRCh38:
Chr15:87904735-101843270
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
54.
GRCh37:
Chr15:90222468-102519161
GRCh38:
Chr15:89679237-101978958
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
55.
GRCh37:
Chr15:84837905-102445132
GRCh38:
Chr15:84169153-101904929
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr15:77836139-102383614
GRCh38:
Chr15:77543797-101843411
ACAN, ALDH1A3, ANPEP, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CRABP1, CTSH, FAH, FES, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, MAN2A2, MEF2A, MFGE8, NMB, NTRK3, FURIN, PCSK6, PDE8A, PLIN1, POLG, PSMA4, RASGRF1, RLBP1, RPS17, SH3GL3, SNRPA1, NR2F2, AP3B2, ST8SIA2, PEX11A, IQGAP1, PRC1, SLC28A1, HOMER2, ZNF592, SV2B, ARNT2, AP3S2, SEMA4B, CIB2, CIB1, MTHFS, MORF4L1, ABHD2, ADAMTS7, AKAP13, CHSY1, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, VPS33B, MRPL46, SLCO3A1, HDGFL3, NGRN, RHCG, BTBD1, TM6SF1, ZFAND6, SCAND2P, ZSCAN2, DET1, LINS1, FANCI, DNAJA4, MCTP2, SELENOS, MESP1, UNC45A, RGMA, WDR93, ADAMTSL3, CEMIP, ALPK3, ABHD17C, TLNRD1, KLHL25, CPEB1, AEN, CRTC3, TTC23, MRPS11, EFL1, LRRK1, TM2D3, WDR61, STARD5, FAM103A1, MEX3B, LINGO1, WDR73, TICRR, RCCD1, LOC91450, ARRDC4, LINC00923, C15orf40, TARSL2, LRRC28, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, LINC00924, C15orf32, HAPLN3, MESP2, SPATA8, LINC00052, CFAP161, ADAMTS17, CERS3, LINGO1-AS1, MIR9-3HG, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, NTRK3-AS1, LINC00928, FAM169B, TMC3, ZNF774, ARPIN, KIF7, ZNF710, HDDC3, SPATA41, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR7-2, MIR9-3, GOLGA6L9, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, SCARNA15, MIR549A, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100129540, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, MIR1276, MIR1179, MIR1469, PIRC76, MIR3174, MIR3175, SNHG21, UBE2Q2L, LINC00933, PRC1-AS1, LINC01578, LOC100507472, C15orf38-AP3S2, ST20-MTHFS, MIR4514, MIR3529, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, CTXND1, CRTC3-AS1, VPS33B-DT, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR7706, MIR6766, CERS3-AS1, LOC102723335, LOC102724034, LOC102724452, LOC103171574, IRAIN, LUNAR1, LOC104613533, LOC105370954, IDH2-DT, LINC02251, LINC02351, PCSK6-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
57.
GRCh37:
Chr15:90320258
GRCh38:
Chr15:89777027
MESP2Spondylocostal dysostosis 2Benign
(Aug 5, 2010)
no assertion criteria provided
58.
GRCh37:
Chr15:90320123-90320134
GRCh38:
Chr15:89776892-89776903
MESP2Spondylocostal dysostosis 2Benign
(Jan 17, 2013)
no assertion criteria provided
59.
GRCh37:
Chr15:90319973
GRCh38:
Chr15:89776742
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 25, 2009)
no assertion criteria provided
60.
GRCh37:
Chr15:90319859
GRCh38:
Chr15:89776628
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 25, 2009)
no assertion criteria provided
61.
GRCh37:
Chr15:90319829
GRCh38:
Chr15:89776598
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 5, 2010)
no assertion criteria provided
62.
GRCh37:
Chr15:90319785
GRCh38:
Chr15:89776554
MESP2Spondylocostal dysostosis 2, Jarcho-Levin syndrome, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:90320288
GRCh38:
Chr15:89777057
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 5, 2010)
no assertion criteria provided
64.
GRCh37:
Chr15:90319961
GRCh38:
Chr15:89776730
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 5, 2010)
no assertion criteria provided
65.
GRCh37:
Chr15:90319895
GRCh38:
Chr15:89776664
MESP2Spondylocostal dysostosis 2Pathogenic
(Aug 5, 2010)
no assertion criteria provided
66.
GRCh37:
Chr15:90320088-90320091
GRCh38:
Chr15:89776857-89776860
MESP2Spondylocostal dysostosis 2Pathogenic
(Jan 17, 2013)
no assertion criteria provided
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