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Items: 45

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:
Chr1:11078893
GRCh38:
Chr1:11018836
TARDBPAmyotrophic lateral sclerosis type 10Conflicting interpretations of pathogenicity
(Mar 12, 2015)
no assertion criteria provided
4.
GRCh37:
Chr1:11082253
GRCh38:
Chr1:11022196
TARDBPFRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATEDPathogenic
(Sep 15, 2009)
no assertion criteria provided
5.
GRCh37:
Chr1:11082335
GRCh38:
Chr1:11022278
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(May 1, 2008)
no assertion criteria provided
6.
GRCh37:
Chr1:11082347
GRCh38:
Chr1:11022290
TARDBPAmyotrophic lateral sclerosis type 10GMAF:0.00020(A)Pathogenic
(Apr 23, 2009)
no assertion criteria provided
7.
GRCh37:
Chr1:11082347
GRCh38:
Chr1:11022290
TARDBPAmyotrophic lateral sclerosis type 10GMAF:0.00020(A)Pathogenic
(Oct 1, 2009)
no assertion criteria provided
8.
GRCh37:
Chr1:11082349
GRCh38:
Chr1:11022292
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
9.
GRCh37:
Chr1:11082358
GRCh38:
Chr1:11022301
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
10.
GRCh37:
Chr1:11082409
GRCh38:
Chr1:11022352
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
11.
GRCh37:
Chr1:11082457
GRCh38:
Chr1:11022400
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 21, 2008)
no assertion criteria provided
12.
GRCh37:
Chr1:11082475
GRCh38:
Chr1:11022418
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
13.
GRCh37:
Chr1:11082494
GRCh38:
Chr1:11022437
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Apr 1, 2008)
no assertion criteria provided
14.
GRCh37:
Chr1:11082508
GRCh38:
Chr1:11022451
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
15.
GRCh37:
Chr1:11082610
GRCh38:
Chr1:11022553
TARDBPAmyotrophic lateral sclerosis type 10, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATEDPathogenic
(Mar 12, 2015)
no assertion criteria provided
16.
GRCh37:
Chr1:11082616
GRCh38:
Chr1:11022559
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
17.
GRCh37:
Chr1:11082619
GRCh38:
Chr1:11022562
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria provided
18.
GRCh37:
Chr1:11082794
GRCh38:
Chr1:11022737
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Apr 23, 2009)
no assertion criteria provided
19.
GRCh37:
Chr1:11083408
GRCh38:
Chr1:11023351
TARDBPAmyotrophic lateral sclerosis type 10, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATEDPathogenic
(Nov 1, 2009)
no assertion criteria provided
20.
GRCh37:
Chr1:746608-15077159
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:8255222-12785220
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:82154-12699337
See casesPathogenic
(Jun 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:6614945-16382506
GRCh38:
Chr1:6554885-16056011
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
24.
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, 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, MIR34AHG, SNORD128
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
25.
GRCh37:
Chr1:11081808-15563167
GRCh38:
Chr1:11021751-15236671
See casesLikely pathogenic
(Jun 11, 2013)
no assertion criteria provided
26.
GRCh37:
Chr1:10377970-11078937
GRCh38:
Chr1:10317912-11018880
CORT, DFFA, PEX14, PGD, KIF1B, TARDBP, CASZ1, C1orf127, APITD1, APITD1-CORTSee casesUncertain significance
(Jun 11, 2013)
no assertion criteria provided
27.
GRCh37:
Chr1:10324455-16107335
GRCh38:
Chr1:10264397-15780840
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
28.
GRCh37:
Chr1:9488597-16142286
GRCh38:
Chr1:9428538-15815791
See casesPathogenic
(Feb 13, 2013)
no assertion criteria provided
29.
GRCh37:
Chr1:4958499-12971757
GRCh38:
Chr1:4898439-12911913
See casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
30.
GRCh37:
Chr1:8343754-12530188
GRCh38:
Chr1:8283694-12470133
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
31.
GRCh37:
Chr1:9124551-12726755
GRCh38:
Chr1:9064492-12666744
See casesPathogenic
(Feb 28, 2010)
no assertion criteria provided
32.
GRCh37:
Chr1:10869096-16748995
GRCh38:
Chr1:10809039-16422500
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr1:10681833-16847204
GRCh38:
Chr1:10621776-16520709
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr1:10616854-22884400
GRCh38:
Chr1:10556797-22557907
ALPL, CAPZB, CASP9, TNFRSF8, CDA, CDC42, CLCN6, CLCNKA, CLCNKB, DDOST, ECE1, EPHA2, MTOR, HSPG2, HTR6, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX14, PLA2G2A, PLA2G5, PLOD1, EXOSC10, RAP1GAP, RNU1-4, RSC1A1, SDHB, SRM, TNFRSF1B, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, AKR7A2, ALDH4A1, EIF4G3, DHRS3, CROCC, ZBTB40, MFN2, CELA3A, ANGPTL7, MAD2L2, PDPN, MASP2, MST1L, PADI2, CTRC, AKR7A3, SPEN, EMC1, PLEKHM2, OTUD3, KAZN, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, PADI4, SZRD1, FBXO2, FBXO6, PLA2G2D, RNU5E-1, RNU1-3, RNU1-2, RNU1-1, HSPB7, LINC00339, UBIAD1, PADI1, PLA2G2E, HP1BP3, CELA2B, MRTO4, PADI3, WNT4, FBXO42, RNF186, FBLIM1, PQLC2, CASZ1, TMEM51, ARHGEF10L, VPS13D, CAMK2N1, NBPF1, NECAP2, RCC2, AGTRAP, DISP3, KIF17, MIIP, CELA2A, PLA2G2F, PINK1, PRAMEF1, PRAMEF2, EFHD2, RSG1, MUL1, AGMAT, TAS1R2, ACTL8, USP48, NBPF3, DDI2, IGSF21, KIAA2013, C1orf158, FBXO44, FHAD1, LRRC38, AADACL3, IFFO2, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, C1orf127, C1orf64, FAM43B, TMEM51-AS1, AKR7L, TMCO4, C1orf167, SLC25A34, LINC01141, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, TMEM82, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, LDLRAD2, PRAMEF11, PRAMEF6, HNRNPCL2, UQCRHL, MINOS1, PRAMEF7, PRAMEF25, PRAMEF26, PRAMEF33P, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF15, PRAMEF16, SNORA59A, C1orf195, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, LOC100132147, FAM231B, TRG-CCC5-1, TRN-GTT13-1, TRG-CCC1-2, TRQ-CTG14-1, MIR1256, MIR1290, NPPA-AS1, MIR3675, LOC100506730, LOC100506801, MINOS1-NBL1, MIR4695, MIR3972, MIR4418, MIR4632, PINK1-AS, MTOR-AS1, HNRNPCL4, ANO7P1, LOC101927876, LOC101927895, UBXN10-AS1, LOC101928043, LOC101929181, PRAMEF27, MIR6084, MIR7846, MIR6730, MIR6729, LOC102724659, LOC105376736, LOC105376805, LOC105378614
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr1:10264013-12120319
GRCh38:
Chr1:10203955-12060262
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
36.
GRCh37:
Chr1:9466781-12912625
GRCh38:
Chr1:9406722-12852772
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
37.
GRCh37:
Chr1:9094730-16767960
GRCh38:
Chr1:9034671-16441465
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr1:7225096-13178528
GRCh38:
Chr1:7165036-13111056
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr1:4958499-13178528
GRCh38:
Chr1:4898439-13111056
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr1:3235900-11303452
GRCh38:
Chr1:3319336-11243395
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
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, 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, MIR34AHG, SNORD128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr1:2879895-12726755
GRCh38:
Chr1:2963330-12666744
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
43.
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, 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, MIR34AHG, SNORD128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr1:6712399-12784811
GRCh38:
Chr1:6652339-12724844
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr1:10697093-11353487
GRCh38:
Chr1:10637036-11293430
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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