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Results: 24

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 28, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:20964567
GRCh38:
Chr1:20638074
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 9, 2014)
no assertion criteria provided
3.
GRCh37:
Chr1:20964591
GRCh38:
Chr1:20638098
PINK1Parkinson disease, late-onsetUncertain significance
(Jan 22, 2014)
no assertion criteria provided
4.
GRCh37:
Chr1:20964597
GRCh38:
Chr1:20638104
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 10, 2015)
no assertion criteria provided
5.
GRCh37:
Chr1:20966445
GRCh38:
Chr1:20639952
PINK1Parkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 10, 2015)
no assertion criteria provided
6.
GRCh37:
Chr1:20971019
GRCh38:
Chr1:20644526
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 10, 2015)
no assertion criteria provided
7.
GRCh37:
Chr1:20971042
GRCh38:
Chr1:20644549
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 28, 2012)
no assertion criteria provided
8.
GRCh37:
Chr1:20971129
GRCh38:
Chr1:20644636
PINK1, PINK1-ASParkinson disease, late-onsetUncertain significance
(Jan 22, 2014)
no assertion criteria provided
9.
GRCh37:
Chr1:20971132
GRCh38:
Chr1:20644639
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 28, 2012)
no assertion criteria provided
10.
GRCh37:
Chr1:20971144
GRCh38:
Chr1:20644651
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetGMAF:0.00020(T)Pathogenic
(Feb 10, 2015)
no assertion criteria provided
11.
GRCh37:
Chr1:20972133
GRCh38:
Chr1:20645640
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 10, 2015)
no assertion criteria provided
12.
GRCh37:
Chr1:20973463-20978065
GRCh38:
Chr1:20646970-20651572
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Feb 10, 2015)
no assertion criteria provided
13.
GRCh37:
Chr1:20975070
GRCh38:
Chr1:20648577
PINK1, PINK1-ASParkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1GMAF:0.00020(T)Pathogenic
(Jun 28, 2012)
no assertion criteria provided
14.
GRCh37:
Chr1:20975527
GRCh38:
Chr1:20649034
PINK1, PINK1-ASParkinson disease 6risk factor
(Feb 10, 2015)
no assertion criteria provided
15.
GRCh37:
Chr1:20975547
GRCh38:
Chr1:20649054
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Jun 28, 2012)
no assertion criteria provided
16.
GRCh37:
Chr1:20975602
GRCh38:
Chr1:20649109
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetGO-ESP:0.00008(T)
GMAF:0.00020(T)
Pathogenic
(Feb 10, 2015)
no assertion criteria provided
17.
GRCh37:
Chr1:20977008-20977011
GRCh38:
Chr1:20650515-20650518
PINK1, PINK1-ASParkinson disease 6, autosomal recessive early-onsetPathogenic
(Apr 21, 2015)
no assertion criteria provided
18.
GRCh37:
Chr1:19875289-21261624
GRCh38:
Chr1:19548795-20935131
See casesLikely pathogenic
(Jan 10, 2012)
no assertion criteria provided
19.
GRCh37:
Chr1:20809150-21598492
GRCh38:
Chr1:20482657-21271999
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr1:20700513-21062644
GRCh38:
Chr1:20374020-20736151
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr1:18674315-22839387
GRCh38:
Chr1:18347821-22512894
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
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, PTCHD2, KIF17, MIIP, CELA2A, PLA2G2F, PINK1, PRAMEF1, PRAMEF2, EFHD2, RSG1, MUL1, AGMAT, TAS1R2, ACTL8, USP48, NBPF3, DDI2, IGSF21, , 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, LOC391003, PRAMEF17, PLA2G2C, PRAMEF4, LOC400736, SH2D5, LDLRAD2, PRAMEF11, PRAMEF6, HNRNPCL2, UQCRHL, MINOS1, PRAMEF7, PRAMEF25, PRAMEF26, LOC645382, PRAMEF19, PRAMEF20, HNRNPCL3, PRAMEF22, PRAMEF15, PRAMEF16, SNORA59A, C1orf195, PRAMEF14, FAM231A, FLJ37453, TRN-GTT4-1, 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, UBXN10-AS1, LOC101928043, LOC101929181, LOC101929983, MIR6084, MIR7846, MIR6730, MIR6729, LOC102724659
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr1:13178269-20996700
GRCh38:
Chr1:13110797-20670207
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr1:15711763-21306842
GRCh38:
Chr1:15385267-20980349
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter

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