S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 23

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Dec 3, 1999)
no assertion criteria provided
2.
GRCh37:
Chr10:72358140
GRCh38:
Chr10:70598384
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Likely pathogenic
(Apr 22, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr10:72358173
GRCh38:
Chr10:70598417
PRF1Hemophagocytic lymphohistiocytosis, familial, 2GO-ESP:0.00008(A)Pathogenic
(Mar 15, 2003)
no assertion criteria provided
4.
GRCh37:
Chr10:72358191
GRCh38:
Chr10:70598435
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Dec 3, 1999)
no assertion criteria provided
5.
GRCh37:
Chr10:72358231
GRCh38:
Chr10:70598475
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(May 1, 2003)
no assertion criteria provided
6.
GRCh37:
Chr10:72358314
GRCh38:
Chr10:70598558
PRF1Aplastic anemiaPathogenic
(Jun 15, 2007)
no assertion criteria provided
7.
GRCh37:
Chr10:72358355
GRCh38:
Chr10:70598599
PRF1Malignant lymphoma, non-Hodgkin, Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Jan 1, 2006)
no assertion criteria provided
8.
GRCh37:
Chr10:72358386-72358387
GRCh38:
Chr10:70598630-70598631
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(May 1, 2003)
no assertion criteria provided
9.
GRCh37:
Chr10:72358443
GRCh38:
Chr10:70598687
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Dec 3, 1999)
no assertion criteria provided
10.
GRCh37:
Chr10:72358641
GRCh38:
Chr10:70598885
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Dec 3, 1999)
no assertion criteria provided
11.
GRCh37:
Chr10:72358722
GRCh38:
Chr10:70598966
PRF1Malignant lymphoma, non-Hodgkin, Hemophagocytic lymphohistiocytosis, familial, 2GO-ESP:0.00846(C)
GMAF:0.00760(C)
Pathogenic
(Jun 1, 2005)
no assertion criteria provided
12.
GRCh37:
Chr10:72358804
GRCh38:
Chr10:70599048
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Nov 1, 2013)
no assertion criteria provided
13.
GRCh37:
Chr10:72358929
GRCh38:
Chr10:70599173
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Dec 3, 1999)
no assertion criteria provided
14.
GRCh37:
Chr10:72360387
GRCh38:
Chr10:70600631
PRF1Aplastic anemia, susceptibility to, Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to, Lymphoma, non-Hodgkin, susceptibility to,
not provided
GO-ESP:0.03375(A)
GMAF:0.01320(A)
Pathogenic, risk factor
(Aug 26, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr10:72360452
GRCh38:
Chr10:70600696
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(May 1, 2003)
no assertion criteria provided
16.
GRCh37:
Chr10:72360469
GRCh38:
Chr10:70600713
PRF1Hemophagocytic lymphohistiocytosis, familial, 2Pathogenic
(Mar 1, 2001)
no assertion criteria provided
17.
GRCh37:
Chr10:72360648
GRCh38:
Chr10:70600892
PRF1Aplastic anemiaGO-ESP:0.02679(T)
GMAF:0.02200(T)
Pathogenic
(Jun 15, 2007)
no assertion criteria provided
18.
GRCh37:
Chr10:72356134-73047985
GRCh38:
Chr10:70596378-71288228
PCBD1, PRF1, SGPL1, ADAMTS14, UNC5B, TBATA, UNC5B-AS1, LOC105378349See casesUncertain significance
(Jul 10, 2013)
no assertion criteria provided
19.
GRCh37:
Chr10:52489127-88906961
GRCh38:
Chr10:50729367-87147204
ADK, ANK3, ANXA7, ANXA11, BMPR1A, CAMK2G, CDK1, COL13A1, DNA2, EGR2, EIF4EBP2, GLUD1, GRID1, HK1, HNRNPH3, KCNMA1, MAT1A, MBL2, NODAL, P4HA1, PCBD1, PLAU, PPA1, PPP3CB, PRF1, SRGN, PRKG1, PSAP, RGR, RPS24, SFTPD, SNCG, SUPV3L1, TACR2, TFAM, UBE2D1, VCL, VDAC2, CCDC6, SLC25A16, NDST2, SGPL1, DDX21, DLG5, CHST3, VPS26A, SEC24C, SPOCK2, RHOBTB1, PPIF, MICU1, NRG3, ADIRF, POLR3A, ZWINT, LDB3, ECD, ZNF365, DKK1, ZSWIM8, WAPL, DNAJC9, CSTF2T, SIRT1, KAT6B, TSPAN15, NUDT13, HERC4, LRIT1, KIF1BP, AP3M1, GHITM, PALD1, CTNNA3, A1CF, NRBF2, NEUROG3, ASCC1, MRPS16, DUSP13, CCSER2, FAM35A, DDIT4, DNAJB12, LRRC20, SLC29A3, H2AFY2, RUFY2, CCAR1, CISD1, DNAJC12, SAR1A, ZMIZ1, MYOZ1, CDH23, PBLD, NPFFR1, C10orf54, PCDH15, DDX50, MMRN2, SYNPO2L, BICC1, TMEM254, HKDC1, TET1, TSPAN14, C10orf11, ARID5B, FAM213A, DYDC2, PHYHIPL, PLA2G12B, MYPN, ZNF503, AIFM2, ADO, JMJD1C-AS1, MCU, CDHR1, OPN4, CHCHD1, MSS51, CFAP70, COMTD1, AGAP11, ANAPC16, ADAMTS14, SAMD8, DYDC1, EIF5AL1, USP54, FUT11, OIT3, LINC00858, TMEM254-AS1, PLAC9, C10orf107, TMEM26, ZCCHC24, UNC5B, STOX1, C10orf35, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, REEP3, JMJD1C, ZNF503-AS1, IPMK, LINC01553, LOC283045, ZMIZ1-AS1, FAM149B1, DUPD1, LRIT2, LRRTM3, SH2D4B, C10orf99, C10orf105, C10orf55, LINC00595, DNAJC9-AS1, LINC00857, MIR346, LOC642361, HOST2, FAM25A, ASAH2B, SFTPA1, SNORD98, MIR605, MIR606, UNC5B-AS1, AGAP5, SFTPA2, NUTM2B, LOC729815, DLG5-AS1, LOC100130698, LOC100131132, ZNF503-AS2, LINC00856, ADIRF-AS1, TRS-TGA1-1, MIR1296, MIR548F1, MIR1254-1, MTRNR2L5, MIR3924, PRKG1-AS1, LINC00844, MRLN, LINC00845, ZSWIM8-AS1, GRID1-AS1, MIR4676, NUTM2B-AS1, LINC01468, TMEM26-AS1, LOC101928887, LINC01515, LOC101928961, LOC101928994, PPP3CB-AS1, LOC101929165, LOC101929234, KCNMA1-AS3, KCNMA1-AS2, KCNMA1-AS1, LOC101929574, NRG3-AS1, LINC01519, LOC101929646, LOC101929662, LINC01520, MIR7152, MIR7151, LOC102723377, LOC102723439, LOC102723703, LOC102724719, LOC105378311, LOC105378330, LOC105378349, LOC105378367, LOC105378385, LOC105378397, CCEPR
See casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
20.
GRCh37:
Chr10:68956325-81181813
GRCh38:
Chr10:67196567-79422057
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
21.
GRCh37:
Chr10:43180754-75475666
GRCh38:
Chr10:42685306-73715908
ALOX5, ANK3, ANXA7, CDK1, CHAT, COL13A1, DNA2, EGR2, EIF4EBP2, ERCC6, GDF2, GDF10, HK1, HNRNPF, HNRNPH3, MBL2, MSMB, NODAL, P4HA1, PCBD1, PPA1, PPP3CB, NPY4R, PRF1, SRGN, PRKG1, MAPK8, PSAP, RBP3, RET, CXCL12, SLC18A3, SUPV3L1, TACR2, TFAM, UBE2D1, ZNF22, ZNF32, CCDC6, NCOA4, SLC25A16, ZNF239, PARG, SGPL1, DDX21, CHST3, VPS26A, GPRIN2, BMS1, SPOCK2, RHOBTB1, MICU1, C10orf10, ZWINT, ECD, ZNF365, DKK1, DNAJC9, CSTF2T, SIRT1, TSPAN15, NUDT13, HERC4, PTPN20, KIF1BP, PALD1, CTNNA3, A1CF, NRBF2, NEUROG3, ASCC1, MRPS16, FXYD4, DDIT4, DNAJB12, LRRC20, SLC29A3, CSGALNACT2, H2AFY2, RUFY2, CCAR1, OGDHL, CISD1, DNAJC12, ASAH2, SAR1A, WDFY4, ARHGAP22, MYOZ1, CDH23, PBLD, NPFFR1, C10orf54, PCDH15, DDX50, OR13A1, SYNPO2L, BICC1, HKDC1, TET1, SYT15, RASSF4, ARID5B, PHYHIPL, PLA2G12B, MYPN, AIFM2, ADO, JMJD1C-AS1, MCU, ZFAND4, C10orf71, MSS51, CFAP70, ZNF488, AGAP4, ANAPC16, ADAMTS14, FRMPD2, USP54, FAM170B, C10orf128, OIT3, ANTXRL, VSTM4, C10orf107, TMEM26, UNC5B, STOX1, C10orf35, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, MARCH8, C10orf25, TMEM72-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, IPMK, FAM21C, SGMS1, PGBD3, C10orf53, LINC01553, LOC283028, LINC00841, LOC283045, FAM149B1, LRRTM3, FAM21A, C10orf105, AGAP6, ZNF32-AS1, ZNF32-AS3, ZNF32-AS2, DNAJC9-AS1, LINC00619, LRRC18, AGAP9, TMEM72, FAM25E, LINC00842, FAM25C, DRGX, ANXA8, AGAP7P, ASAH2B, SNORD98, MIR605, ANXA8L1, AGAP10, UNC5B-AS1, AGAP5, C10orf142, FAM25G, TRS-TGA1-1, TIMM23, MIR1296, MIR548F1, MIR1254-1, MIR4294, MIR3156-1, MTRNR2L5, MIR3924, FAM170B-AS1, C10orf71-AS1, LINC00840, PRKG1-AS1, LINC00844, MRLN, LINC00845, MIR4676, TIMM23B, MIR5100, CH17-360D5.1, ERCC6-PGBD3, LINC01468, TMEM26-AS1, LOC101928887, LINC01515, LOC101928961, LOC101928994, PPP3CB-AS1, LINC01518, LOC101929445, MIR7152, MIR7151, LOC102723377, LOC102724264, LOC102724323, LOC102724593, LOC102724719, LINC01264, SGMS1-AS1, LOC105378269, LOC105378292, LOC105378311, LOC105378330, LOC105378349, LOC105378577, CCEPR, LOC107001062
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
22.
GRCh37:
Chr10:63989447-76227901
GRCh38:
Chr10:62229688-74468143
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr10:60196226-76174974
GRCh38:
Chr10:58436466-74415216
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination