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Items: 83

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2005)
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, ELOA, 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, INTS11, 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, CENPS, GPR153, C1QTNF12, 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, FNDC10, PRAMEF19, PRAMEF20, LACTBL1, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TEX46, LINC01783, TRQ-CTG14-1, TTC34, ENO1-AS1, APITD1-CORT, MINOS1-NBL1
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr1:17555508-24706269
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
GRCh37:
Chr1:20960072
GRCh38:
Chr1:20633579
PINK1not specifiedUncertain significance
(Sep 13, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:20960129
GRCh38:
Chr1:20633636
PINK1Parkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:20960206
GRCh38:
Chr1:20633713
PINK1, MIR6084Parkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:20960210
GRCh38:
Chr1:20633717
PINK1, MIR6084not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:20960230
GRCh38:
Chr1:20633737
PINK1, MIR6084not specified, Parkinson Disease, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:20960385
GRCh38:
Chr1:20633892
PINK1Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:20964328
GRCh38:
Chr1:20637835
PINK1not specified, Parkinson Disease, RecessiveBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:20964364
GRCh38:
Chr1:20637871
PINK1not specifiedUncertain significance
(Oct 6, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr1:20964381
GRCh38:
Chr1:20637888
PINK1not specifiedUncertain significance
(Mar 5, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:20964567
GRCh38:
Chr1:20638074
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 9, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr1:20964591
GRCh38:
Chr1:20638098
PINK1Parkinson disease, late-onsetUncertain significance
(Jan 22, 2014)
no assertion criteria provided
15.
GRCh37:
Chr1:20964597
GRCh38:
Chr1:20638104
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2006)
no assertion criteria provided
16.
GRCh37:
Chr1:20966404
GRCh38:
Chr1:20639911
PINK1Parkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:20966445
GRCh38:
Chr1:20639952
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2004)
no assertion criteria provided
18.
GRCh37:
Chr1:20966479
GRCh38:
Chr1:20639986
PINK1not providedUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:20971005
GRCh38:
Chr1:20644512
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetnot providedno assertion provided
20.
GRCh37:
Chr1:20971008
GRCh38:
Chr1:20644515
PINK1, PINK1-ASnot providedUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:20971019
GRCh38:
Chr1:20644526
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2004)
no assertion criteria provided
22.
GRCh37:
Chr1:20971032
GRCh38:
Chr1:20644539
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:20971042
GRCh38:
Chr1:20644549
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Oct 1, 2008)
no assertion criteria provided
24.
GRCh37:
Chr1:20971064
GRCh38:
Chr1:20644571
PINK1, PINK1-ASnot specified, Parkinson Disease, RecessiveUncertain significance
(Aug 1, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:20971129
GRCh38:
Chr1:20644636
PINK1, PINK1-ASParkinson disease, late-onsetUncertain significance
(Jan 22, 2014)
no assertion criteria provided
26.
GRCh37:
Chr1:20971132
GRCh38:
Chr1:20644639
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 15, 2008)
no assertion criteria provided
27.
GRCh37:
Chr1:20971142
GRCh38:
Chr1:20644649
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:20971144
GRCh38:
Chr1:20644651
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Oct 1, 2006)
no assertion criteria provided
29.
GRCh37:
Chr1:20972042
GRCh38:
Chr1:20645549
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:20972048
GRCh38:
Chr1:20645555
PINK1, PINK1-ASnot specified, Parkinson Disease, RecessiveBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:20972111
GRCh38:
Chr1:20645618
PINK1, PINK1-ASParkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:20972133
GRCh38:
Chr1:20645640
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Apr 19, 2005)
no assertion criteria provided
33.
GRCh37:
Chr1:20973463-20978065
GRCh38:
Chr1:20646970-20651572
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 14, 2005)
no assertion criteria provided
34.
GRCh37:
Chr1:20975070
GRCh38:
Chr1:20648577
PINK1, PINK1-ASParkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1, Parkinson Disease, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:20975130
GRCh38:
Chr1:20648637
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:20975135
GRCh38:
Chr1:20648642
PINK1, PINK1-ASnot specified, Parkinson Disease, RecessiveUncertain significance
(Jul 15, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:20975527
GRCh38:
Chr1:20649034
PINK1, PINK1-ASParkinson disease 6risk factor
(Oct 1, 2006)
no assertion criteria provided
38.
GRCh37:
Chr1:20975547
GRCh38:
Chr1:20649054
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2008)
no assertion criteria provided
39.
GRCh37:
Chr1:20975602
GRCh38:
Chr1:20649109
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 16, 2008)
no assertion criteria provided
40.
GRCh37:
Chr1:20975662
GRCh38:
Chr1:20649169
PINK1, PINK1-ASnot specifiedBenign
(Feb 29, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:20977000
GRCh38:
Chr1:20650507
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr1:20977008-20977011
GRCh38:
Chr1:20650515-20650518
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Sep 1, 2004)
no assertion criteria provided
43.
GRCh37:
Chr1:20977016
GRCh38:
Chr1:20650523
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr1:20977136
GRCh38:
Chr1:20650643
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr1:20977157
GRCh38:
Chr1:20650664
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr1:20977202
GRCh38:
Chr1:20650709
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:20977221
GRCh38:
Chr1:20650728
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr1:20977305
GRCh38:
Chr1:20650812
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:20977365
GRCh38:
Chr1:20650872
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:20977380
GRCh38:
Chr1:20650887
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:20977449
GRCh38:
Chr1:20650956
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:20977533
GRCh38:
Chr1:20651040
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:20977540-20977541
GRCh38:
Chr1:20651047-20651048
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr1:20977599
GRCh38:
Chr1:20651106
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:20977674
GRCh38:
Chr1:20651181
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:20977694
GRCh38:
Chr1:20651201
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:20977716
GRCh38:
Chr1:20651223
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:20977718
GRCh38:
Chr1:20651225
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr1:20977722-20977725
GRCh38:
Chr1:20651229-20651232
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr1:20977748
GRCh38:
Chr1:20651255
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:20977755
GRCh38:
Chr1:20651262
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:20977757-20977760
GRCh38:
Chr1:20651264-20651267
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr1:20977797
GRCh38:
Chr1:20651304
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:20977839
GRCh38:
Chr1:20651346
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr1:20977856
GRCh38:
Chr1:20651363
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr1:20977857-20977859
GRCh38:
Chr1:20651364-20651366
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr1:20977909-20977912
GRCh38:
Chr1:20651416-20651419
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr1:20977991
GRCh38:
Chr1:20651498
PINK1, PINK1-ASParkinson Disease, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr1:20978295-20978306
GRCh38:
Chr1:20651802-20651813
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr1:20978410
GRCh38:
Chr1:20651917
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr1:20978415
GRCh38:
Chr1:20651922
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr1:20978496-20978497
GRCh38:
Chr1:20652003-20652004
DDOST, PINK1, PINK1-ASCongenital disorder of glycosylation, Parkinson Disease, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr1:20978832
GRCh38:
Chr1:20652339
DDOST, PINK1Congenital disorder of glycosylation, Parkinson Disease, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr1:20980231
GRCh38:
Chr1:20653738
DDOST, PINK1Congenital disorder of glycosylation, not specified, Parkinson Disease, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:20982631
GRCh38:
Chr1:20656138
DDOST, PINK1Congenital disorder of glycosylation, not specified, Parkinson Disease, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:20067124-22537862
See casesPathogenicno assertion criteria provided
77.
GRCh37:
Chr1:2749920-22564787
ALPL, RERE, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDC42, CLCN6, CLCNKA, CLCNKB, CORT, DDOST, DFFA, DFFB, ECE1, MEGF6, EPHA2, ENO1, MTOR, ZBTB48, HSPG2, HTR6, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, RAP1GAP, RNU1-4, RPL22, RSC1A1, SDHB, SLC2A5, SRM, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, PER3, DHRS3, VAMP3, H6PD, CROCC, CEP104, KLHL21, MFN2, CELA3A, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, MST1L, PADI2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, HES2, FBLIM1, PQLC2, CASZ1, TMEM51, ARHGEF10L, VPS13D, CAMK2N1, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PLEKHG5, LRRC47, DISP3, KIF17, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, PINK1, PRAMEF1, PRAMEF2, EFHD2, RSG1, MUL1, NOL9, AGMAT, GPR157, SPSB1, TAS1R2, TAS1R1, ACTL8, ESPN, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, LRRC38, AADACL3, IFFO2, TPRG1L, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, FAM43B, TMEM201, AKR7L, TMCO4, NPHP4, C1orf167, SLC25A34, C1orf174, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, CENPS, GPR153, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, LDLRAD2, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, PRAMEF7, PRAMEF19, PRAMEF20, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, LINC01783, TRQ-CTG14-1, ENO1-AS1, APITD1-CORT, MINOS1-NBL1
See casesPathogenicno assertion criteria provided
78.
GRCh37:
Chr1:20809150-21598492
GRCh38:
Chr1:20482657-21271999
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
79.
GRCh37:
Chr1:20700513-21062644
GRCh38:
Chr1:20374020-20736151
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
80.
GRCh37:
Chr1:18674315-22839387
GRCh38:
Chr1:18347821-22512894
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
81.
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, PRAMEF33, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF15, PRAMEF16, SNORA59A, C1orf195, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, LINC01783, 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, ANO7L1, LINC01654, LOC101927895, UBXN10-AS1, LINC01635, LINC01647, PRAMEF27, MIR6084, MIR7846, MIR6730, MIR6729, LOC102724659, LOC105376736, LINC01784, LOC105376805, LINC01757, LOC105378614
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
82.
GRCh37:
Chr1:13178269-20996700
GRCh38:
Chr1:13110797-20670207
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr1:15711763-21306842
GRCh38:
Chr1:15385267-20980349
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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