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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:96872364-118383651
GRCh38:
Chr10:95112607-116776637
ADD3, ADRA2A, ADRB1, ARL3, CASP7, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CYP17A1, DNTT, DUSP5, FGF8, GFRA1, GOT1, HABP2, TLX1, HPS1, ABLIM1, MXI1, NDUFB8, NFKB2, NRAP, PAX2, PGAM1, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, PSD, ALDH18A1, SCD, SFRP5, FBXW4, SLIT1, TAF5, TCF7L2, TECTB, TLL2, WNT8B, XPNPEP1, SHOC2, GBF1, LDB1, BTRC, PKD2L1, INA, PDLIM1, SMC3, NEURL1, NOLC1, GSTO1, SH3PXD2A, SLK, ZNF518A, DCLRE1A, FRAT1, ACTR1A, SMNDC1, NPM3, SORBS1, ERLIN1, LBX1, OGA, NT5C2, PDCD11, SORCS3, PPRC1, RRP12, DNMBP, FRAT2, DPCD, SEC31B, ATRNL1, TCTN3, C10orf12, ANKRD2, CNNM1, PDCD4, R3HCC1L, POLL, BLNK, KCNIP2, EXOSC1, CALHM2, CUTC, SUFU, ACSL5, CCNJ, CNNM2, WBP1L, CCDC186, CRTAC1, CWF19L1, PI4K2A, HIF1AN, SLF2, TDRD1, TWNK, TM9SF3, ENTPD7, AS3MT, GPAM, FHIP2A, SEMA4G, AVPI1, HPSE2, MMS19, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, C10orf95, PLEKHS1, PDZD7, STN1, UBTD1, CFAP43, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, LZTS2, LCOR, MRPL43, AFAP1L2, PYROXD2, ATP5MK, ARHGAP19, ITPRIP, OLMALINC, BBIP1, OPALIN, HOGA1, SORCS1, PIK3AP1, MORN4, ZFYVE27, SFXN2, BORCS7, GSTO2, SFR1, CALHM3, PNLIPRP3, ACSM6, TRUB1, VTI1A, C10orf82, NKX2-3, CFAP58, CALHM1, HSPA12A, BLOC1S2, RBM20, PDCD4-AS1, VWA2, NHLRC2, CCDC172, CC2D2B, LBX1-AS1, GOLGA7B, C10orf62, MIR146B, LOC644215, SNORA12, MIR607, MIR608, MIR609, ENTPD1-AS1, RPEL1, TLX1NB, MIR936, C10orf131, DNMBP-AS1, KCNIP2-AS1, MIR1287, MIR1307, MIR2110, MIR548E, MIR3157, MIR3158-1, MIR4295, MIR3158-2, SLIT1-AS1, LINC00866, C10orf95-AS1, SH3PXD2A-AS1, CFAP58-DT, SORCS3-AS1, ADD3-AS1, BORCS7-ASMT, ARHGAP19-SLIT1, MIR4680, MIR4483, MIR4482, MIR4685, LOC101927278, LINC01475, LINC01514, LINC02681, ITPRIP-AS1, LINC02620, LINC02627, LOC101927692, MIR6507, MIR6715B, MIR6715A, LOC102723665, CYP17A1-AS1, NEURL1-AS1, LINC02626, LOC103344931, LINC01435, LINC02624, LINC02661, LOC105378479, DUSP5-DT, SNORA87, LOC107984265, LOC108281165, LOC109136576, FRA10B, SNORD158, LOC110120845, LOC110120850, LOC110120886, LOC110120887, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, HEAT2, MIR3085, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057116
2.
GRCh37:
Chr10:101953972-134246301
GRCh38:
Chr10:100194215-132432797
C10orf95-AS1, SH3PXD2A-AS1, CFAP58-DT, SORCS3-AS1, ADD3-AS1, LINC00867, BORCS7-ASMT, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4482, MIR4484, MIR4681, LINC00601, FANK1-AS1, LINC01163, LINC01514, LINC02681, ITPRIP-AS1, TCERG1L-AS1, LINC02620, LINC02627, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6715B, MIR6715A, CYP17A1-AS1, NEURL1-AS1, LINC02626, LINC02674, LOC103344931, LINC01435, LINC02624, LINC02661, LOC105378479, DUSP5-DT, LINC02641, AS-PTPRE, SNORA87, LOC107984265, LOC109136576, FRA10B, SNORD158, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121311, LOC110121334, LOC110121344, LOC110121396, LOC110121472, LOC110408762, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC112577516, MIR9851, HEAT2, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, ACADSB, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, CHUK, COL17A1, CTBP2, CYP17A1, DMBT1, DOCK1, DUSP5, EMX2, FGF8, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, TLX1, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PSD, PTPRE, RGS10, SCD, FBXW4, SLC18A2, TAF5, TCF7L2, TECTB, TIAL1, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, EIF3A, GBF1, LDB1, BTRC, PKD2L1, INA, SMC3, NEURL1, BUB3, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, DCLRE1A, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, LBX1, OGA, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, ABRAXAS2, DPCD, SEC31B, ATRNL1, EDRF1, PDCD4, POLL, KCNIP2, CUZD1, CALHM2, CHST15, SUFU, ACSL5, ZRANB1, NSMCE4A, CNNM2, WBP1L, CCDC186, CWF19L1, HIF1AN, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, TWNK, AS3MT, GPAM, SHTN1, FHIP2A, SEMA4G, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, CFAP43, LRRC27, TRIM8, KAZALD1, SFXN3, ELOVL3, PCGF6, LZTS2, MRPL43, AFAP1L2, ATP5MK, ITPRIP, OLMALINC, BBIP1, FANK1, SORCS1, C10orf90, BTBD16, FAM24A, PSTK, MMP21, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, CFAP58, PWWP2B, EMX2OS, PLPP4, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, JAKMIP3, STK32C, BLOC1S2, RBM20, PDCD4-AS1, LOC283038, WDR11-AS1, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, C10orf143, NKX1-2, LBX1-AS1, C10orf120, EEF1AKMT2, EDRF1-DT, FOXI2, LINC01164, LINC01561, DENND10, MIR146B, NPS, SNORA19, INSYN2A, SNORA12, MIR608, MIR609, LOC728158, LINC02667, RPEL1, TLX1NB, MIR936, ATE1-AS1, TEX36-AS1, KCNIP2-AS1, MIR1307, MIR2110, MIR548E, MIR378C, MIR4297, MIR3158-1, MIR4295, MIR3158-2, MIR4296, MIR3941, MIR3663
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059707
3.
GRCh37:
Chr10:102360249-135436092
GRCh38:
Chr10:100600492-133622588
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, COL17A1, CTBP2, CYP2E1, CYP17A1, DMBT1, DOCK1, DUSP5, ECHS1, EMX2, FGF8, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, TLX1, INPP5A, ABLIM1, MGMT, MKI67, MXI1, NFKB2, NRAP, OAT, PAX2, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PSD, PTPRE, RGS10, FBXW4, SLC18A2, TAF5, TCF7L2, TECTB, TIAL1, UROS, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, GBF1, LDB1, BTRC, INA, SMC3, NEURL1, BUB3, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, DCLRE1A, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, LBX1, OGA, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, ABRAXAS2, DPCD, ATRNL1, EDRF1, PDCD4, VENTX, POLL, KCNIP2, CUZD1, CALY, CALHM2, CHST15, SUFU, ACSL5, ZRANB1, CFAP46, NSMCE4A, CNNM2, WBP1L, CCDC186, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, TWNK, AS3MT, GPAM, SHTN1, FHIP2A, SEMA4G, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, CFAP43, LRRC27, TRIM8, KAZALD1, SFXN3, ELOVL3, PCGF6, ADGRA1, LZTS2, NKX6-2, MRPL43, AFAP1L2, ATP5MK, KNDC1, ITPRIP, MTG1, BBIP1, FANK1, SYCE1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, MMP21, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, CFAP58, LINC02870, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, RBM20, PDCD4-AS1, LOC283038, WDR11-AS1, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, C10orf143, NKX1-2, LBX1-AS1, C10orf120, EEF1AKMT2, EDRF1-DT, FOXI2, LINC01164, LINC01168, LINC01561, DENND10, SPRN, MIR146B, MIR202, NPS, SNORA19, INSYN2A, MIR608, MIR609, LOC728158, LINC02667, RPEL1, TLX1NB, MIR936, ADGRA1-AS1, LINC01165, ATE1-AS1, TEX36-AS1, KCNIP2-AS1, MIR1307, MIR2110, MIR548E, MIR378C, MIR4297, MIR3158-1, MIR4295, MIR3158-2, MIR4296, MIR3941, MIR3663, MIR3944, C10orf95-AS1, SH3PXD2A-AS1, CFAP58-DT, SORCS3-AS1, ADD3-AS1, LINC00867, BORCS7-ASMT, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4482, MIR4484, MIR4681, LINC00601, FANK1-AS1, LINC01163, LINC01514, LINC02681, ITPRIP-AS1, TCERG1L-AS1, LINC02620, LINC02627, LINC01166, MIR202HG, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6715B, MIR6715A, CYP17A1-AS1, NEURL1-AS1, LINC02626, LINC02674, LOC103344931, LINC01435, LINC01167, LINC02624, LINC02661, LOC105378479, DUSP5-DT, LINC02641, AS-PTPRE, SNORA87, LOC107984265, LOC107984282, LOC109136576, FRA10B, SNORD158, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110408762, LOC110599579, LOC110599585, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, MIR9851, HEAT2, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123
See casesPathogenic
(Sep 12, 2011)
no assertion criteria providedVCV000148679
4.
GRCh37:
Chr10:104491930-115844864
GRCh38:
Chr10:102732173-114085105
See casesPathogenic
(Apr 23, 2013)
no assertion criteria providedVCV000155304
5.
GRCh37:
Chr10:108685061-135434319
GRCh38:
Chr10:106925303-133620815
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, BNIP3, CASP7, CTBP2, CYP2E1, DMBT1, DOCK1, DUSP5, ECHS1, EMX2, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, INPP5A, ABLIM1, MGMT, MKI67, MXI1, NRAP, OAT, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PTPRE, RGS10, SLC18A2, TCF7L2, TECTB, TIAL1, UROS, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, SMC3, BUB3, BAG3, FAM53B, DCLRE1A, SMNDC1, GLRX3, DPYSL4, TACC2, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, ABRAXAS2, ATRNL1, EDRF1, PDCD4, VENTX, CUZD1, CALY, CHST15, ACSL5, ZRANB1, CFAP46, NSMCE4A, CCDC186, WDR11, DHX32, PPP2R2D, TDRD1, BCCIP, GPAM, SHTN1, FHIP2A, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, MCMBP, PLEKHS1, C10orf88, LRRC27, ADGRA1, NKX6-2, AFAP1L2, KNDC1, MTG1, BBIP1, FANK1, SYCE1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, MMP21, PDZD8, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, LINC02870, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, RBM20, PDCD4-AS1, LOC283038, WDR11-AS1, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, C10orf143, NKX1-2, C10orf120, EEF1AKMT2, EDRF1-DT, FOXI2, LINC01164, LINC01168, LINC01561, DENND10, SPRN, MIR202, NPS, SNORA19, INSYN2A, LOC728158, LINC02667, ADGRA1-AS1, LINC01165, ATE1-AS1, TEX36-AS1, MIR2110, MIR548E, MIR378C, MIR4297, MIR4295, MIR4296, MIR3941, MIR3663, MIR3944, ADD3-AS1, LINC00867, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4484, MIR4681, LINC00601, FANK1-AS1, LINC01163, TCERG1L-AS1, LINC01166, MIR202HG, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6715B, MIR6715A, LINC02626, LINC02674, LOC103344931, LINC01435, LINC01167, LINC02661, LOC105378479, DUSP5-DT, LINC02641, AS-PTPRE, SNORA87, LOC107984282, FRA10B, SNORD158, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, MIR9851, HEAT2, LOC113939914, LOC113939915, LOC116216121, LOC116216122, LOC116216123
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059727
6.
GRCh37:
Chr10:108950858-120521001
GRCh38:
Chr10:107191100-118761489
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058782
7.
GRCh37:
Chr10:109862345-135434178
GRCh38:
Chr10:108102587-133620674
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, BNIP3, CASP7, CTBP2, CYP2E1, DMBT1, DOCK1, DUSP5, ECHS1, EMX2, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, INPP5A, ABLIM1, MGMT, MKI67, MXI1, NRAP, OAT, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PTPRE, RGS10, SLC18A2, TCF7L2, TECTB, TIAL1, UROS, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, SMC3, BUB3, BAG3, FAM53B, DCLRE1A, SMNDC1, GLRX3, DPYSL4, TACC2, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, ABRAXAS2, ATRNL1, EDRF1, PDCD4, VENTX, CUZD1, CALY, CHST15, ACSL5, ZRANB1, CFAP46, NSMCE4A, CCDC186, WDR11, DHX32, PPP2R2D, TDRD1, BCCIP, GPAM, SHTN1, FHIP2A, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, MCMBP, PLEKHS1, C10orf88, LRRC27, ADGRA1, NKX6-2, AFAP1L2, KNDC1, MTG1, BBIP1, FANK1, SYCE1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, MMP21, PDZD8, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, LINC02870, PWWP2B, EMX2OS, PLPP4, PAOX, FAM24B, EBF3, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, RBM20, PDCD4-AS1, LOC283038, WDR11-AS1, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, C10orf143, NKX1-2, C10orf120, EEF1AKMT2, EDRF1-DT, FOXI2, LINC01164, LINC01168, LINC01561, DENND10, SPRN, MIR202, NPS, SNORA19, INSYN2A, LOC728158, LINC02667, ADGRA1-AS1, LINC01165, ATE1-AS1, TEX36-AS1, MIR2110, MIR548E, MIR378C, MIR4297, MIR4295, MIR4296, MIR3941, MIR3663, MIR3944, ADD3-AS1, LINC00867, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4484, MIR4681, LINC00601, FANK1-AS1, LINC01163, TCERG1L-AS1, LINC01166, MIR202HG, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6715B, MIR6715A, LINC02626, LINC02674, LOC103344931, LINC01167, LINC02661, LOC105378479, DUSP5-DT, LINC02641, AS-PTPRE, SNORA87, LOC107984282, FRA10B, SNORD158, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, MIR9851, HEAT2, LOC113939914, LOC113939915, LOC116216121, LOC116216122, LOC116216123
See casesPathogenic
(May 27, 2010)
no assertion criteria providedVCV000144206
8.
GRCh37:
Chr10:112327555-112771596
GRCh38:
Chr10:110567797-111011838
BBIP1, RBM20, PDCD4-AS1, SHOC2, SMC3, PDCD4, MIR548E, MIR4680, LOC111875823, LOC116216121RasopathyPathogenic
(Nov 8, 2018)
criteria provided, single submitterVCV000654674
9.
GRCh37:
Chr10:112564493-116643769
GRCh38:
Chr10:110804735-114884010
See casesLikely pathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000151000
10.
GRCh37:
Chr10:112679304
GRCh38:
Chr10:110919546
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880483
11.
GRCh37:
Chr10:112679386
GRCh38:
Chr10:110919628
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880484
12.
GRCh37:
Chr10:112679391
GRCh38:
Chr10:110919633
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880485
13.
GRCh37:
Chr10:112679396
GRCh38:
Chr10:110919638
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000298859
14.
GRCh37:
Chr10:112679406
GRCh38:
Chr10:110919648
SHOC2Noonan syndrome-like disorder with loose anagen hair 1, not specifiedConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000139105
15.
GRCh37:
Chr10:112679430
GRCh38:
Chr10:110919672
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877713
16.
GRCh37:
Chr10:112723869
GRCh38:
Chr10:110964111
SHOC2not specifiedLikely benign
(Sep 27, 2017)
criteria provided, single submitterVCV000512374
17.
GRCh37:
Chr10:112723889
GRCh38:
Chr10:110964131
SHOC2not specifiedBenign
(May 13, 2014)
criteria provided, single submitterVCV000139103
18.
GRCh37:
Chr10:112723938
GRCh38:
Chr10:110964180
SHOC2Noonan syndrome-like disorder with loose anagen hair 1, not specifiedBenign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000165236
19.
GRCh37:
Chr10:112723958
GRCh38:
Chr10:110964200
SHOC2not specified, Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000040632
20.
GRCh37:
Chr10:112723992
GRCh38:
Chr10:110964234
SHOC2not specifiedLikely benign
(Oct 25, 2010)
criteria provided, single submitterVCV000165237
21.
GRCh37:
Chr10:112724003
GRCh38:
Chr10:110964245
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000040633
22.
GRCh37:
Chr10:112724051
GRCh38:
Chr10:110964293
SHOC2not specifiedLikely benign
(May 18, 2011)
criteria provided, single submitterVCV000045562
23.
GRCh37:
Chr10:112724116
GRCh38:
Chr10:110964358
SHOC2Rasopathy, not providedUncertain significance
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040634
24.
GRCh37:
Chr10:112724120
GRCh38:
Chr10:110964362
SHOC2S2GNoonan syndrome-like disorder with loose anagen hair, not specified, Inborn genetic diseases,
Rasopathy, Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome,
not provided
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000006821
25.
GRCh37:
Chr10:112724123
GRCh38:
Chr10:110964365
SHOC2S3Gnot providedUncertain significance
(Jun 8, 2016)
criteria provided, single submitterVCV000280656
26.
GRCh37:
Chr10:112724126
GRCh38:
Chr10:110964368
SHOC2S4Rnot provided, Rasopathy, not specified,
Noonan syndrome-like disorder with loose anagen hair 1
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040635
27.
GRCh37:
Chr10:112724148
GRCh38:
Chr10:110964390
SHOC2S11YNoonan syndrome-like disorder with loose anagen hair 1, not providedUncertain significance
(Apr 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000496406
28.
GRCh37:
Chr10:112724154
GRCh38:
Chr10:110964396
SHOC2E13ARasopathy, not provided, Noonan syndrome-like disorder with loose anagen hair 1
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000181526
29.
GRCh37:
Chr10:112724168
GRCh38:
Chr10:110964410
SHOC2V18IRasopathyUncertain significance
(Jun 22, 2019)
criteria provided, single submitterVCV000652343
30.
GRCh37:
Chr10:112724172
GRCh38:
Chr10:110964414
SHOC2P19RNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000877714
31.
GRCh37:
Chr10:112724187
GRCh38:
Chr10:110964429
SHOC2R24KRasopathyUncertain significance
(May 15, 2018)
criteria provided, single submitterVCV000573791
32.
GRCh37:
Chr10:112724190
GRCh38:
Chr10:110964432
SHOC2E25GNoonan syndrome-like disorder with loose anagen hair 1, Rasopathy, not specified,
Noonan syndrome, not provided
Uncertain significance
(Oct 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000040637
33.
GRCh37:
Chr10:112724195
GRCh38:
Chr10:110964437
SHOC2E27QNoonan syndrome, RasopathyUncertain significance
(Aug 2, 2019)
criteria provided, single submitterVCV000935079
34.
GRCh37:
Chr10:112724225
GRCh38:
Chr10:110964467
SHOC2E37Qnot providedUncertain significance
(May 30, 2016)
criteria provided, single submitterVCV000496405
35.
GRCh37:
Chr10:112724286
GRCh38:
Chr10:110964528
SHOC2S57FRasopathy, not specified, not provided
Uncertain significance
(Oct 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000179760
36.
GRCh37:
Chr10:112724287
GRCh38:
Chr10:110964529
SHOC2not specifiedLikely benign
(Sep 12, 2016)
criteria provided, single submitterVCV000505339
37.
GRCh37:
Chr10:112724297
GRCh38:
Chr10:110964539
SHOC2Q61KRasopathyUncertain significance
(Jul 2, 2018)
criteria provided, single submitterVCV000579289
38.
GRCh37:
Chr10:112724299
GRCh38:
Chr10:110964541
SHOC2not providedUncertain significance
(Mar 10, 2014)
criteria provided, single submitterVCV000167686
39.
GRCh37:
Chr10:112724303
GRCh38:
Chr10:110964545
SHOC2G63RNoonan syndromeUncertain significanceno assertion criteria providedVCV000981608
40.
GRCh37:
Chr10:112724303
GRCh38:
Chr10:110964545
SHOC2G63Rnot specified, not providedUncertain significance
(Jan 11, 2018)
criteria provided, multiple submitters, no conflictsVCV000561714
41.
GRCh37:
Chr10:112724349
GRCh38:
Chr10:110964591
SHOC2A78VRasopathyUncertain significance
(Jan 20, 2020)
criteria provided, single submitterVCV001014118
42.
GRCh37:
Chr10:112724354
GRCh38:
Chr10:110964596
SHOC2G80RRasopathyUncertain significance
(Jul 7, 2020)
criteria provided, single submitterVCV001003171
43.
GRCh37:
Chr10:112724358
GRCh38:
Chr10:110964600
SHOC2T81IRasopathyUncertain significance
(Jun 15, 2020)
criteria provided, single submitterVCV001011324
44.
GRCh37:
Chr10:112724370
GRCh38:
Chr10:110964612
SHOC2S85FRasopathyUncertain significance
(Jan 30, 2020)
criteria provided, single submitterVCV001025311
45.
GRCh37:
Chr10:112724396-112724397
GRCh38:
Chr10:110964638-110964639
SHOC2S118fsnot specifiedUncertain significance
(Apr 13, 2020)
criteria provided, single submitterVCV000917781
46.
GRCh37:
Chr10:112724419
GRCh38:
Chr10:110964661
SHOC2not specified, Rasopathy, not provided
Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000260162
47.
GRCh37:
Chr10:112724423
GRCh38:
Chr10:110964665
SHOC2M103Vnot specified, Noonan syndromeUncertain significance
(Feb 8, 2021)
criteria provided, single submitterVCV000981609
48.
GRCh37:
Chr10:112724439
GRCh38:
Chr10:110964681
SHOC2S108CNoonan syndromeLikely benignno assertion criteria providedVCV000981610
49.
GRCh37:
Chr10:112724449
GRCh38:
Chr10:110964691
SHOC2not specifiedLikely benign
(Dec 29, 2017)
criteria provided, single submitterVCV000514518
50.
GRCh37:
Chr10:112724450
GRCh38:
Chr10:110964692
SHOC2I112VRasopathyUncertain significance
(Jul 9, 2019)
criteria provided, single submitterVCV000950431
51.
GRCh37:
Chr10:112724451
GRCh38:
Chr10:110964693
SHOC2I112Tnot specifiedUncertain significance
(Sep 28, 2015)
criteria provided, single submitterVCV000372672
52.
GRCh37:
Chr10:112724470
GRCh38:
Chr10:110964712
SHOC2not providedLikely benign
(May 3, 2017)
criteria provided, single submitterVCV000703416
53.
GRCh37:
Chr10:112724471
GRCh38:
Chr10:110964713
SHOC2I119VRasopathy, Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Oct 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000181527
54.
GRCh37:
Chr10:112724479
GRCh38:
Chr10:110964721
SHOC2RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448931
55.
GRCh37:
Chr10:112724493
GRCh38:
Chr10:110964735
SHOC2T126Inot specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448932
56.
GRCh37:
Chr10:112724506
GRCh38:
Chr10:110964748
SHOC2not specifiedLikely benign
(Apr 24, 2017)
criteria provided, single submitterVCV000509166
57.
GRCh37:
Chr10:112724541
GRCh38:
Chr10:110964783
SHOC2V142Gnot specifiedUncertain significance
(Jan 11, 2018)
criteria provided, single submitterVCV000632982
58.
GRCh37:
Chr10:112724561
GRCh38:
Chr10:110964803
SHOC2M149Vnot providedUncertain significance
(Oct 18, 2017)
criteria provided, single submitterVCV000452915
59.
GRCh37:
Chr10:112724573
GRCh38:
Chr10:110964815
SHOC2Rasopathy, not specified, Noonan syndrome-like disorder with loose anagen hair 1
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000139104
60.
GRCh37:
Chr10:112724592
GRCh38:
Chr10:110964834
SHOC2T159NRasopathyUncertain significance
(Feb 11, 2019)
criteria provided, single submitterVCV000835448
61.
GRCh37:
Chr10:112724605-112724606
GRCh38:
Chr10:110964847-110964848
SHOC2not providedUncertain significance
(Aug 16, 2018)
criteria provided, single submitterVCV000561967
62.
GRCh37:
Chr10:112724622-112724623
GRCh38:
Chr10:110964864-110964865
SHOC2K169fsNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Apr 6, 2019)
criteria provided, single submitterVCV001030214
63.
GRCh37:
Chr10:112724630
GRCh38:
Chr10:110964872
SHOC2R172Wnot specifiedUncertain significance
(Mar 27, 2015)
criteria provided, single submitterVCV000372586
64.
GRCh37:
Chr10:112724633
GRCh38:
Chr10:110964875
SHOC2M173Vnot providedLikely pathogenic
(Dec 1, 2016)
criteria provided, single submitterVCV000373090
65.
GRCh37:
Chr10:112724635
GRCh38:
Chr10:110964877
SHOC2M173Inot providedUncertain significance
(Jun 4, 2018)
criteria provided, single submitterVCV000546129
66.
GRCh37:
Chr10:112724635
GRCh38:
Chr10:110964877
SHOC2M173Inot provided, Rasopathy, Inborn genetic diseases,
Noonan syndrome-like disorder with loose anagen hair 1, not specified
Uncertain significance
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000181528
67.
GRCh37:
Chr10:112724672
GRCh38:
Chr10:110964914
SHOC2S186Anot specifiedUncertain significance
(Jan 7, 2021)
criteria provided, single submitterVCV000996269
68.
GRCh37:
Chr10:112724682
GRCh38:
Chr10:110964924
SHOC2Y189FRasopathyUncertain significance
(Sep 16, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000830079
69.
GRCh37:
Chr10:112724683
GRCh38:
Chr10:110964925
SHOC2not specifiedLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV000929018
70.
GRCh37:
Chr10:112724726
GRCh38:
Chr10:110964968
SHOC2I204Vnot specified, not provided, Rasopathy,
Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Feb 7, 2020)
criteria provided, conflicting interpretationsVCV000240838
71.
GRCh37:
Chr10:112724729
GRCh38:
Chr10:110964971
SHOC2T205ARasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448933
72.
GRCh37:
Chr10:112724735
GRCh38:
Chr10:110964977
SHOC2V207MRasopathyUncertain significance
(Aug 13, 2019)
criteria provided, single submitterVCV000948626
73.
GRCh37:
Chr10:112724785
GRCh38:
Chr10:110965027
SHOC2not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV000755918
74.
GRCh37:
Chr10:112724817
GRCh38:
Chr10:110965059
SHOC2I234TNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298860
75.
GRCh37:
Chr10:112724828
GRCh38:
Chr10:110965070
SHOC2not providedLikely benign
(Feb 8, 2018)
criteria provided, single submitterVCV000723509
76.
GRCh37:
Chr10:112724834-112724836
GRCh38:
Chr10:110965076-110965078
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000298861
77.
GRCh37:
Chr10:112745307
GRCh38:
Chr10:110985549
SHOC2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000561456
78.
GRCh37:
Chr10:112745363
GRCh38:
Chr10:110985605
SHOC2not specifiedBenign
(Oct 26, 2020)
criteria provided, single submitterVCV000984529
79.
GRCh37:
Chr10:112745370
GRCh38:
Chr10:110985612
SHOC2not specifiedBenign/Likely benign
(Sep 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000139106
80.
GRCh37:
Chr10:112745376
GRCh38:
Chr10:110985618
SHOC2not providedLikely benign
(Jul 30, 2018)
criteria provided, single submitterVCV000739517
81.
GRCh37:
Chr10:112745452
GRCh38:
Chr10:110985694
SHOC2I257Tnot providedUncertain significance
(Jun 12, 2018)
criteria provided, single submitterVCV000561901
82.
GRCh37:
Chr10:112745456
GRCh38:
Chr10:110985698
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298862
83.
GRCh37:
Chr10:112745488
GRCh38:
Chr10:110985730
SHOC2Q269Rnot specifiedUncertain significance
(Jun 25, 2015)
criteria provided, single submitterVCV000218698
84.
GRCh37:
Chr10:112745489-112745490
GRCh38:
Chr10:110985731-110985732
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Pathogenic
(Jul 30, 2020)
no assertion criteria providedVCV000973849
85.
GRCh37:
Chr10:112745518
GRCh38:
Chr10:110985760
SHOC2T279INoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Sep 26, 2019)
criteria provided, single submitterVCV001030215
86.
GRCh37:
Chr10:112745535
GRCh38:
Chr10:110985777
SHOC2not specified, Noonan syndrome-like disorder with loose anagen hair 1Benign/Likely benign
(Sep 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000139107
87.
GRCh37:
Chr10:112745766
GRCh38:
Chr10:110986008
SHOC2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561542
88.
GRCh37:
Chr10:112760170
GRCh38:
Chr10:111000412
SHOC2not specified, RasopathyConflicting interpretations of pathogenicity
(Dec 15, 2017)
criteria provided, conflicting interpretationsVCV000506891
89.
GRCh37:
Chr10:112760180
GRCh38:
Chr10:111000422
SHOC2not specified, not providedLikely benign
(Mar 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000506462
90.
GRCh37:
Chr10:112760210
GRCh38:
Chr10:111000452
SHOC2RasopathyLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000544019
91.
GRCh37:
Chr10:112760217
GRCh38:
Chr10:111000459
SHOC2RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448934
92.
GRCh37:
Chr10:112760225
GRCh38:
Chr10:111000467
SHOC2not specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448935
93.
GRCh37:
Chr10:112760281
GRCh38:
Chr10:111000523
SHOC2N317S, N271SRasopathyUncertain significance
(Dec 27, 2016)
criteria provided, single submitterVCV000408333
94.
GRCh37:
Chr10:112760292
GRCh38:
Chr10:111000534
SHOC2T275A, T321Anot specifiedUncertain significance
(Sep 9, 2019)
criteria provided, single submitterVCV000928787
95.
GRCh37:
Chr10:112760544
GRCh38:
Chr10:111000786
SHOC2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561589
96.
GRCh37:
Chr10:112760571
GRCh38:
Chr10:111000813
SHOC2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561891
97.
GRCh37:
Chr10:112764352
GRCh38:
Chr10:111004594
SHOC2not specified, Rasopathy, Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Sep 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000181524
98.
GRCh37:
Chr10:112764372
GRCh38:
Chr10:111004614
SHOC2not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000761171
99.
GRCh37:
Chr10:112764373
GRCh38:
Chr10:111004615
SHOC2S282P, S328PIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975166
100.
GRCh37:
Chr10:112764395
GRCh38:
Chr10:111004637
SHOC2S289N, S335NRasopathyUncertain significance
(Jul 27, 2018)
criteria provided, single submitterVCV000640623
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