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

Download:

Choose Destination

Links from Gene

Items: 34

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:909238-16736132
RERE, CA6, CASP9, TNFRSF8, CDK11B, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, DFFB, DVL1, MEGF6, EPHA2, ENO1, MTOR, GABRD, GNB1, ZBTB48, TNFRSF9, MTHFR, NPPA, NPPB, PEX10, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, PRKCZ, RPL22, RSC1A1, SCNN1D, SKI, SLC2A5, SRM, TNFRSF1B, TP73, TNFRSF4, ZBTB17, PRDM2, MMP23B, MMP23A, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CEP104, KLHL21, SLC35E2, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, RER1, PARK7, CTRC, ACOT7, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, TARDBP, ICMT, CHD5, SZRD1, FBXO2, FBXO6, HSPB7, ARHGEF16, SSU72, UBIAD1, WRAP73, SLC45A1, CELA2B, SDF4, ERRFI1, FBXO42, MXRA8, HES2, FBLIM1, CASZ1, CPSF3L, C1orf159, AURKAIP1, MRPL20, TMEM51, VPS13D, ATAD3A, PANK4, DNAJC11, AJAP1, CTNNBIP1, AGTRAP, PLEKHG5, LRRC47, DISP3, HES4, MIIP, CELA2A, PRDM16, NMNAT1, VWA1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, RSG1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, TAS1R1, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, SLC25A33, DDI2, LZIC, CFAP74, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, TPRG1L, FAM213B, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, CALML6, TMEM201, FAAP20, ATAD3C, TTLL10, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, DRAXIN, SPATA21, AGRN, APITD1, GPR153, FAM132A, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, RNF223, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, ANKRD65, PRAMEF7, MIR429, TMEM88B, C1orf233, PRAMEF19, PRAMEF20, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TTC34, ENO1-AS1, APITD1-CORT
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
2.
GRCh37:
Chr1:909238-24706269
ALPL, RERE, C1QA, C1QB, C1QC, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDK11B, CDC42, CLCN6, CLCNKA, CLCNKB, CNR2, CORT, DDOST, DFFA, DFFB, DVL1, E2F2, ECE1, MEGF6, EPHA2, ENO1, EPHA8, EPHB2, MTOR, FUCA1, GABRD, GALE, GNB1, ZBTB48, HMGCL, HSPG2, HTR1D, HTR6, ID3, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX10, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, PRKCZ, RAP1GAP, RNU1-4, RPL11, RPL22, RSC1A1, SCNN1D, SDHB, SKI, SLC2A5, SRM, TCEA3, TCEB3, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, TNFRSF4, ZBTB17, LUZP1, PRDM2, MMP23B, MMP23A, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CROCC, CEP104, KLHL21, SLC35E2, ZBTB40, MFN2, CELA3A, ANGPTL7, HNRNPR, UBE4B, MAD2L2, PDPN, MASP2, SRSF10, UTS2, RER1, MST1L, PADI2, LYPLA2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, KDM1A, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, SSU72, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, SDF4, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, MXRA8, HES2, FBLIM1, PQLC2, CASZ1, CPSF3L, C1orf159, AURKAIP1, MRPL20, TMEM51, ARHGEF10L, VPS13D, ATAD3A, PANK4, CAMK2N1, ASAP3, PNRC2, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PITHD1, PLEKHG5, LRRC47, DISP3, KIF17, HES4, GRHL3, IL22RA1, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, VWA1, PINK1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, RSG1, MUL1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, ZNF436, TAS1R2, TAS1R1, ACTL8, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, CFAP74, KIAA2013, THAP3, STPG1, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, IFFO2, TPRG1L, FAM213B, MYOM3, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, CALML6, IFNLR1, FAM43B, TMEM201, FAAP20, ATAD3C, AKR7L, TTLL10, TMCO4, MDS2, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, AGRN, APITD1, GPR153, FAM132A, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, RNF223, LDLRAD2, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, ANKRD65, PRAMEF7, MIR429, TMEM88B, C1orf233, PRAMEF19, PRAMEF20, LACTBL1, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, C1orf234, LOC100132147, TRQ-CTG14-1, TTC34, ENO1-AS1, APITD1-CORT, MINOS1-NBL1
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr1:6614945-16382506
GRCh38:
Chr1:6554885-16056011
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr1:5423886-18686796
GRCh38:
Chr1:5363826-18360302
RERE, CA6, CASP9, TNFRSF8, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, EPHA2, ENO1, MTOR, ZBTB48, TNFRSF9, MFAP2, MTHFR, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, RNU1-4, RPL22, RSC1A1, SDHB, SLC2A5, SRM, TNFRSF1B, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, KCNAB2, TNFRSF25, PER3, DHRS3, VAMP3, H6PD, CROCC, KLHL21, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, MST1L, PADI2, PARK7, CTRC, ACOT7, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, ATP13A2, TARDBP, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, RNU5E-1, RNU1-3, RNU1-2, RNU1-1, HSPB7, UBIAD1, PADI1, SLC45A1, CELA2B, PADI3, ERRFI1, FBXO42, HES2, FBLIM1, CASZ1, TMEM51, ARHGEF10L, VPS13D, NBPF1, NECAP2, DNAJC11, RCC2, CTNNBIP1, AGTRAP, PLEKHG5, DISP3, MIIP, CELA2A, NMNAT1, PRAMEF1, PRAMEF2, EFHD2, RSG1, NOL9, AGMAT, GPR157, SPSB1, TAS1R1, ACTL8, ESPN, SLC25A33, DDI2, LZIC, IGSF21, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, LRRC38, AADACL3, ARHGEF19, C1orf127, PHF13, LINC00337, C1orf64, SLC2A7, TMEM201, TMEM51-AS1, NPHP4, C1orf167, SLC25A34, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, APITD1, GPR153, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, UQCRHL, PRAMEF7, PRAMEF25, PIK3CD-AS1, PRAMEF26, PRAMEF33P, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF22, PRAMEF15, PRAMEF16, SNORA59A, C1orf195, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, LOC100132147, FAM231B, TRG-CCC5-1, TRN-GTT13-1, TRG-CCC1-2, TRQ-CTG14-1, NPPA-AS1, MIR1273D, MIR4252, MIR3675, LOC100505887, ENO1-AS1, LOC100506022, APITD1-CORT, MIR3972, MIR4689, MIR4632, MIR4417, MIR5697, MTOR-AS1, CAMTA1-IT1, HNRNPCL4, ANO7P1, LOC101927876, PIK3CD-AS2, LOC101929181, PRAMEF27, MIR6728, MIR7846, MIR6730, MIR6729, LOC102724450, LOC102724539, LOC102724552, LOC102724571, LOC102724659, LOC105376736, LOC105376805
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr1:6823203-8427633
GRCh38:
Chr1:6763143-8367573
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr1:846680-9389984
GRCh38:
Chr1:911300-9329925
See casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
7.
GRCh37:
Chr1:849466-9627180
GRCh38:
Chr1:914086-9567122
See casesPathogenic
(Aug 2, 2013)
no assertion criteria provided
8.
GRCh37:
Chr1:837491-9616363
GRCh38:
Chr1:902111-9556305
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
9.
GRCh37:
Chr1:6363701-16125588
GRCh38:
Chr1:6303641-15799093
See casesLikely benign
(Nov 11, 2011)
no assertion criteria provided
10.
GRCh37:
Chr1:4958499-12971757
GRCh38:
Chr1:4898439-12911913
See casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
11.
GRCh37:
Chr1:779727-12530188
GRCh38:
Chr1:844347-12470133
RERE, CA6, TNFRSF8, CDK11B, CLCN6, CORT, DFFA, DFFB, DVL1, MEGF6, ENO1, MTOR, GABRD, GNB1, ZBTB48, TNFRSF9, MTHFR, NPPA, NPPB, PEX10, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, PRKCZ, RPL22, SCNN1D, SKI, SLC2A5, SRM, TNFRSF1B, TP73, TNFRSF4, MMP23B, MMP23A, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, PER3, VAMP3, H6PD, ISG15, PLCH2, CEP104, KLHL21, SLC35E2, MFN2, ANGPTL7, UBE4B, MAD2L2, MASP2, UTS2, RER1, PARK7, ACOT7, CLSTN1, KIF1B, CAMTA1, TARDBP, ICMT, CHD5, NOC2L, FBXO2, FBXO6, RNU5E-1, ARHGEF16, SSU72, UBIAD1, WRAP73, SLC45A1, SDF4, ERRFI1, MXRA8, HES2, CASZ1, CPSF3L, C1orf159, AURKAIP1, MRPL20, VPS13D, ATAD3A, PANK4, DNAJC11, AJAP1, CTNNBIP1, AGTRAP, TP73-AS1, PLEKHG5, LRRC47, DISP3, HES4, MIIP, PRDM16, NMNAT1, VWA1, NADK, MMEL1, NOL9, MORN1, GPR157, SPSB1, CPTP, TAS1R1, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, SLC25A33, LZIC, PERM1, CFAP74, KIAA2013, THAP3, FBXO44, LOC115110, RBP7, ACAP3, UBE2J2, PUSL1, B3GALT6, TPRG1L, FAM213B, ACTRT2, MIB2, C1orf127, SAMD11, LOC148413, PHF13, LINC00337, CCDC27, SLC2A7, CALML6, TMEM201, FAAP20, ATAD3C, LINC01342, TTLL10, NPHP4, C1orf167, FAM41C, LOC284661, C1orf174, KLHL17, TMEM240, TMEM52, DRAXIN, AGRN, APITD1, GPR153, FAM132A, HES5, SMIM1, RNF207, HES3, RNF223, MIR200A, MIR200B, MIR34A, LINC00982, ANKRD65, MIR429, LINC01128, TMEM88B, C1orf233, PIK3CD-AS1, MIR551A, CDK11A, SLC35E2B, LINC01346, LOC100130417, LINC01134, TTC34, NPPA-AS1, MIR4251, MIR1273D, MIR4252, LOC100505887, ENO1-AS1, LOC100506022, TTLL10-AS1, APITD1-CORT, MIR4689, MIR4632, MIR4417, MIR5697, MTOR-AS1, CAMTA1-IT1, LOC100996583, PIK3CD-AS2, LOC101929181, MIR6726, MIR6727, MIR6728, MIR7846, MIR6808, MIR6729, LOC102724312, LOC102724450, LOC102724539, LOC102724552, LOC102724571, LOC102724659, LOC105376736, LOC105378591
See casesLikely pathogenic
(Dec 22, 2010)
no assertion criteria provided
12.
GRCh37:
Chr1:779727-8231974
GRCh38:
Chr1:844347-8171914
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
13.
GRCh37:
Chr1:8037788
GRCh38:
Chr1:7977728
PARK7Parkinson disease, late-onsetUncertain significance
(Jan 22, 2014)
no assertion criteria provided
14.
GRCh37:
Chr1:8045031
Chr1:8021928-8021945
GRCh38:
Chr1:7984971
Chr1:7961868-7961885
PARK7Parkinson disease 7Pathogenic
(Oct 8, 2012)
no assertion criteria provided
15.
GRCh37:
Chr1:7225096-13178528
GRCh38:
Chr1:7165036-13111056
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr1:5742588-10923900
GRCh38:
Chr1:5682528-10863843
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr1:5334068-9389984
GRCh38:
Chr1:5274008-9329925
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr1:4958499-13178528
GRCh38:
Chr1:4898439-13111056
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr1:3354713-8231974
GRCh38:
Chr1:3438149-8171914
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr1:3235900-11303452
GRCh38:
Chr1:3319336-11243395
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr1:2922757-18015429
GRCh38:
Chr1:3006193-17688934
RERE, CA6, CASP9, TNFRSF8, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, DFFB, MEGF6, EPHA2, ENO1, MTOR, ZBTB48, TNFRSF9, MFAP2, MTHFR, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, RNU1-4, RPL22, RSC1A1, SDHB, SLC2A5, SRM, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, KCNAB2, TNFRSF25, PER3, DHRS3, VAMP3, H6PD, CROCC, CEP104, KLHL21, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, MST1L, PADI2, PARK7, CTRC, ACOT7, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, ATP13A2, TARDBP, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, RNU5E-1, RNU1-3, RNU1-2, RNU1-1, HSPB7, ARHGEF16, UBIAD1, PADI1, WRAP73, SLC45A1, CELA2B, PADI3, ERRFI1, FBXO42, HES2, FBLIM1, CASZ1, TMEM51, ARHGEF10L, VPS13D, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, TP73-AS1, PLEKHG5, LRRC47, DISP3, MIIP, CELA2A, PRDM16, NMNAT1, PRAMEF1, PRAMEF2, EFHD2, RSG1, NOL9, AGMAT, GPR157, SPSB1, TAS1R1, ESPN, SLC25A33, DDI2, LZIC, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, LRRC38, AADACL3, TPRG1L, ARHGEF19, ACTRT2, C1orf127, PHF13, LINC00337, CCDC27, C1orf64, SLC2A7, TMEM201, TMEM51-AS1, NPHP4, C1orf167, LOC284661, SLC25A34, C1orf174, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, APITD1, GPR153, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, MIR34A, LINC00982, PRAMEF11, PRAMEF6, HNRNPCL2, UQCRHL, PRAMEF7, PRAMEF25, PIK3CD-AS1, PRAMEF26, PRAMEF33P, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF22, PRAMEF15, PRAMEF16, SNORA59A, MIR551A, C1orf195, LINC01346, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, LOC100132147, FAM231B, LINC01134, TRG-CCC5-1, TRN-GTT13-1, TRG-CCC1-2, TRQ-CTG14-1, NPPA-AS1, MIR4251, MIR1273D, MIR4252, MIR3675, LOC100505887, ENO1-AS1, LOC100506022, APITD1-CORT, MIR3972, MIR4689, MIR4632, MIR4417, MIR5697, MTOR-AS1, CAMTA1-IT1, HNRNPCL4, ANO7P1, PIK3CD-AS2, LOC101929181, PRAMEF27, MIR6728, MIR7846, MIR6730, MIR6729, LOC102724450, LOC102724539, LOC102724552, LOC102724571, LOC102724659, LOC105376736, LOC105376805
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr1:2879895-12726755
GRCh38:
Chr1:2963330-12666744
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr1:794595-8807706
GRCh38:
Chr1:859215-8747647
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr1:779727-10869155
GRCh38:
Chr1:844347-10809098
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr1:564405-8597804
GRCh38:
Chr1:629025-8537745
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr1:6913573-17685411
GRCh38:
Chr1:6853513-17326813
RERE, CA6, CASP9, TNFRSF8, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, EPHA2, ENO1, MTOR, TNFRSF9, MFAP2, MTHFR, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, RNU1-4, RSC1A1, SDHB, SLC2A5, SRM, TNFRSF1B, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, PER3, DHRS3, VAMP3, H6PD, CROCC, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, MST1L, PADI2, PARK7, CTRC, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, ATP13A2, TARDBP, PADI4, SZRD1, FBXO2, FBXO6, RNU5E-1, RNU1-3, RNU1-2, RNU1-1, HSPB7, UBIAD1, PADI1, SLC45A1, CELA2B, PADI3, ERRFI1, FBXO42, FBLIM1, CASZ1, TMEM51, VPS13D, NBPF1, NECAP2, CTNNBIP1, AGTRAP, DISP3, MIIP, CELA2A, NMNAT1, PRAMEF1, PRAMEF2, EFHD2, RSG1, AGMAT, GPR157, SPSB1, SLC25A33, DDI2, LZIC, KIAA2013, C1orf158, FBXO44, FHAD1, RBP7, LRRC38, AADACL3, ARHGEF19, C1orf127, C1orf64, SLC2A7, TMEM201, TMEM51-AS1, C1orf167, SLC25A34, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, DRAXIN, SPATA21, APITD1, TMEM82, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, UQCRHL, PRAMEF7, PRAMEF25, PIK3CD-AS1, PRAMEF26, PRAMEF33P, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF22, PRAMEF15, PRAMEF16, SNORA59A, C1orf195, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, LOC100132147, FAM231B, TRG-CCC5-1, TRN-GTT13-1, TRG-CCC1-2, TRQ-CTG14-1, NPPA-AS1, MIR1273D, MIR3675, ENO1-AS1, LOC100506022, APITD1-CORT, MIR3972, MIR4632, MIR5697, MTOR-AS1, CAMTA1-IT1, HNRNPCL4, ANO7P1, PIK3CD-AS2, LOC101929181, PRAMEF27, MIR6728, MIR7846, MIR6730, MIR6729, LOC102724539, LOC102724552, LOC102724571, LOC102724659, LOC105376736, LOC105376805
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr1:6712399-12784811
GRCh38:
Chr1:6652339-12724844
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr1:2761325-8068000
GRCh38:
Chr1:2844760-8007940
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr1:8025408
GRCh38:
Chr1:7965348
PARK7Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1Pathogenic
(Jun 1, 2006)
no assertion criteria provided
30.
GRCh37:
Chr1:8025485
GRCh38:
Chr1:7965425
PARK7Parkinson disease 7Pathogenic
(Oct 1, 2004)
no assertion criteria provided
31.
GRCh37:
Chr1:8044990
GRCh38:
Chr1:7984930
PARK7Parkinson disease 7GO-ESP:0.00077(C)
GMAF:0.00100(C)
Pathogenic
(Aug 2, 2013)
no assertion criteria provided
32.
GRCh37:
Chr1:8022923
GRCh38:
Chr1:7962863
PARK7Parkinson disease 7Pathogenic
(Jul 1, 2012)
no assertion criteria provided
33.
GRCh37:
Chr1:8045041
GRCh38:
Chr1:7984981
PARK7Parkinson disease 7Pathogenic
(Jul 1, 2012)
no assertion criteria provided
34.
GRCh37:
Chr1:8018845-8044954
PARK7Parkinson disease 7Pathogenic
(Oct 1, 2010)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination