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Items: 1 to 100 of 129

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:2156662
GRCh38:
Chr16:2106661
PKD1Polycystic kidney disease, adult typeUncertain significance
(Oct 16, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr16:2155413-2155414
GRCh38:
Chr16:2105412-2105413
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2017)
no assertion criteria provided
3.
GRCh37:
Chr16:2155486-2155487
GRCh38:
Chr16:2105485-2105486
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Nov 28, 2017)
no assertion criteria provided
4.
GRCh37:
Chr16:2160537
GRCh38:
Chr16:2110536
PKD1Polycystic kidney disease, adult typeUncertain significance
(Nov 28, 2017)
no assertion criteria provided
5.
GRCh37:
Chr16:2140305
GRCh38:
Chr16:2090304
PKD1Polycystic kidney disease, adult typeUncertain significance
(Oct 30, 2017)
no assertion criteria provided
6.
GRCh37:
Chr16:2166856
GRCh38:
Chr16:2116855
PKD1Polycystic kidney disease, adult typePathogenic
(Oct 13, 2017)
no assertion criteria provided
7.
GRCh37:
Chr16:2167905-2167915
GRCh38:
Chr16:2117904-2117914
PKD1Polycystic kidney disease, adult typePathogenic
(Oct 13, 2017)
no assertion criteria provided
8.
GRCh37:
Chr16:2142974
GRCh38:
Chr16:2092973
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Oct 13, 2017)
no assertion criteria provided
9.
GRCh37:
Chr16:2154495
GRCh38:
Chr16:2104494
PKD1Polycystic kidney disease, adult typeUncertain significance
(Oct 13, 2017)
no assertion criteria provided
10.
GRCh37:
Chr16:2158422
GRCh38:
Chr16:2108421
PKD1Polycystic kidney disease, adult typeUncertain significance
(Oct 13, 2017)
no assertion criteria provided
11.
GRCh37:
Chr16:2153296
GRCh38:
Chr16:2103295
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Oct 13, 2017)
no assertion criteria provided
12.
GRCh37:
Chr16:2141452
GRCh38:
Chr16:2091451
PKD1, LOC105371049Polycystic kidney disease, adult typeUncertain significance
(Sep 18, 2017)
no assertion criteria provided
13.
GRCh37:
Chr16:2160459
GRCh38:
Chr16:2110458
PKD1Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
14.
GRCh37:
Chr16:2161732
GRCh38:
Chr16:2111731
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Sep 18, 2017)
no assertion criteria provided
15.
GRCh37:
Chr16:2168718
GRCh38:
Chr16:2118717
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Sep 18, 2017)
no assertion criteria provided
16.
GRCh37:
Chr16:2163763-2179490
GRCh38:
Chr16:2113762-2129489
PKD1Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
17.
GRCh37:
Chr16:2155868
GRCh38:
Chr16:2105867
PKD1Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
18.
GRCh37:
Chr16:2143974
GRCh38:
Chr16:2093973
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
19.
GRCh37:
Chr16:2149918
GRCh38:
Chr16:2099917
PKD1Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
20.
GRCh37:
Chr16:2158971
GRCh38:
Chr16:2108970
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Sep 18, 2017)
no assertion criteria provided
21.
GRCh37:
Chr16:2158254-2158255
GRCh38:
Chr16:2108253-2108254
PKD1Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
22.
GRCh37:
Chr16:2141572-2141573
GRCh38:
Chr16:2091571-2091572
PKD1, LOC105371049Polycystic kidney disease, adult typeLikely pathogenic
(Sep 18, 2017)
no assertion criteria provided
23.
GRCh37:
Chr16:2143078
GRCh38:
Chr16:2093077
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Sep 18, 2017)
no assertion criteria provided
24.
GRCh37:
Chr16:2168096-2168097
GRCh38:
Chr16:2118095-2118096
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Sep 18, 2017)
no assertion criteria provided
25.
GRCh37:
Chr16:2141013
GRCh38:
Chr16:2091012
PKD1Polycystic kidney disease, adult typeUncertain significance
(Jan 17, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr16:2156620
GRCh38:
Chr16:2106619
PKD1Polycystic kidney disease, adult typeLikely pathogenicno assertion criteria provided
27.
GRCh37:
Chr16:2147377
GRCh38:
Chr16:2097376
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2016)
no assertion criteria provided
28.
GRCh37:
Chr16:2167845
GRCh38:
Chr16:2117844
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2016)
no assertion criteria provided
29.
GRCh37:
Chr16:2159359
GRCh38:
Chr16:2109358
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2017)
no assertion criteria provided
30.
GRCh37:
Chr16:2142145
GRCh38:
Chr16:2092144
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Dec 30, 2016)
no assertion criteria provided
31.
GRCh37:
Chr16:2147161
GRCh38:
Chr16:2097160
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2017)
no assertion criteria provided
32.
GRCh37:
Chr16:2152585
GRCh38:
Chr16:2102584
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2017)
no assertion criteria provided
33.
GRCh37:
Chr16:2140141
GRCh38:
Chr16:2090140
PKD1Polycystic kidney disease, adult typePathogenic
(Dec 30, 2016)
no assertion criteria provided
34.
GRCh37:
Chr16:2164915
GRCh38:
Chr16:2114914
PKD1Polycystic kidney disease, adult typeBenign
(Jun 9, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr16:2142115-2142121
GRCh38:
Chr16:2092114-2092120
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Jun 22, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr16:2164392-2164393
GRCh38:
Chr16:2114391-2114392
PKD1Polycystic kidney disease, adult typePathogenic
(Jun 7, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr16:2150471
GRCh38:
Chr16:2100470
PKD1Polycystic kidney disease, adult typeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr16:2142108
GRCh38:
Chr16:2092107
PKD1, LOC105371049Polycystic kidney disease, adult typeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr16:2153262
GRCh38:
Chr16:2103261
PKD1Polycystic kidney disease, adult typeUncertain significance
(Sep 8, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr16:2153354
GRCh38:
Chr16:2103353
PKD1Polycystic kidney disease, adult type, not providedPathogenic
(Aug 2, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr16:2185666-2185678
GRCh38:
Chr16:2135665-2135677
PKD1Polycystic kidney disease, adult typenot providedno assertion provided
42.
GRCh37:
Chr16:2149725
GRCh38:
Chr16:2099724
PKD1Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
43.
GRCh37:
Chr16:2159071
GRCh38:
Chr16:2109070
PKD1Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
44.
GRCh37:
Chr16:2159313
GRCh38:
Chr16:2109312
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Apr 20, 2017)
no assertion criteria provided
45.
GRCh37:
Chr16:2152220
GRCh38:
Chr16:2102219
PKD1Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
46.
GRCh37:
Chr16:2153447
GRCh38:
Chr16:2103446
PKD1Polycystic kidney disease, adult type, not providedUncertain significance
(Jul 25, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr16:2142153-2142154
GRCh38:
Chr16:2092152-2092153
PKD1, LOC105371049Polycystic kidney disease, adult typeLikely pathogenic
(Apr 20, 2017)
no assertion criteria provided
48.
GRCh37:
Chr16:2163286
GRCh38:
Chr16:2113285
PKD1Polycystic kidney disease, adult typeLikely pathogenic
(Apr 20, 2017)
no assertion criteria provided
49.
GRCh37:
Chr16:2143813
GRCh38:
Chr16:2093812
PKD1, LOC105371049Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
50.
GRCh37:
Chr16:2143033
GRCh38:
Chr16:2093032
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Apr 20, 2017)
no assertion criteria provided
51.
GRCh37:
Chr16:2156460
GRCh38:
Chr16:2106459
PKD1Polycystic kidney disease, adult typePathogenic
(Apr 20, 2017)
no assertion criteria provided
52.
GRCh37:
Chr16:2152059
GRCh38:
Chr16:2102058
PKD1Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
53.
GRCh37:
Chr16:2144151
GRCh38:
Chr16:2094150
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Apr 20, 2017)
no assertion criteria provided
54.
GRCh37:
Chr16:2143918-2143923
GRCh38:
Chr16:2093917-2093922
PKD1, LOC105371049Polycystic kidney disease, adult typeUncertain significance
(Apr 20, 2017)
no assertion criteria provided
55.
GRCh37:
Chr16:2161665
GRCh38:
Chr16:2111664
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
56.
GRCh37:
Chr16:2160147
GRCh38:
Chr16:2110146
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
57.
GRCh37:
Chr16:2147726-2147727
GRCh38:
Chr16:2097725-2097726
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
58.
GRCh37:
Chr16:2185564
GRCh38:
Chr16:2135563
PKD1Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
59.
GRCh37:
Chr16:2168297
GRCh38:
Chr16:2118296
PKD1Polycystic kidney disease, adult typeLikely pathogenicno assertion criteria provided
60.
GRCh37:
Chr16:2159182
GRCh38:
Chr16:2109181
PKD1Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
61.
GRCh37:
Chr16:2140419-2140420
GRCh38:
Chr16:2090418-2090419
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
62.
GRCh37:
Chr16:2157939
GRCh38:
Chr16:2107938
PKD1Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
63.
GRCh37:
Chr16:2164524
GRCh38:
Chr16:2114523
PKD1Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
64.
GRCh37:
Chr16:2142182
GRCh38:
Chr16:2092181
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenicno assertion criteria provided
65.
GRCh37:
Chr16:2161745-2161753
GRCh38:
Chr16:2111744-2111752
PKD1Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
66.
GRCh37:
Chr16:2150397
GRCh38:
Chr16:2100396
PKD1Polycystic kidney disease, adult typeLikely pathogenicno assertion criteria provided
67.
GRCh37:
Chr16:2158744
GRCh38:
Chr16:2108743
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
68.
GRCh37:
Chr16:2167580
GRCh38:
Chr16:2117579
PKD1Polycystic kidney disease, adult typeLikely pathogenicno assertion criteria provided
69.
GRCh37:
Chr16:2158869
GRCh38:
Chr16:2108868
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
70.
GRCh37:
Chr16:2161625
GRCh38:
Chr16:2111624
PKD1Polycystic kidney disease, adult typePathogenicno assertion criteria provided
71.
GRCh37:
Chr16:2150028-2150030
GRCh38:
Chr16:2100027-2100029
PKD1Polycystic kidney disease, adult typeLikely pathogenicno assertion criteria provided
72.
GRCh37:
Chr16:2143816
GRCh38:
Chr16:2093815
PKD1, LOC105371049Polycystic kidney disease, adult typeUncertain significanceno assertion criteria provided
73.
GRCh37:
Chr16:2144128
GRCh38:
Chr16:2094127
PKD1, LOC105371049Polycystic kidney disease, adult typePathogenic
(Aug 3, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr16:2140963-2140988
GRCh38:
Chr16:2090962-2090987
PKD1Polycystic kidney disease, adult typePathogenic
(Aug 29, 2016)
no assertion criteria provided
75.
GRCh37:
Chr16:2152129
GRCh38:
Chr16:2102128
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Apr 11, 2017)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:2156613
GRCh38:
Chr16:2106612
PKD1Polycystic kidney disease, adult type, not specifiedConflicting interpretations of pathogenicity
(May 20, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr16:2161666
GRCh38:
Chr16:2111665
PKD1Polycystic kidney disease, adult type, not specifiedBenign/Likely benign
(May 31, 2017)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr16:2161793
GRCh38:
Chr16:2111792
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:2161796
GRCh38:
Chr16:2111795
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:2162361
GRCh38:
Chr16:2112360
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 5, 2017)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:2162839
GRCh38:
Chr16:2112838
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 5, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:2162887
GRCh38:
Chr16:2112886
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 5, 2017)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:2164294
GRCh38:
Chr16:2114293
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 9, 2017)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:2164324
GRCh38:
Chr16:2114323
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 9, 2017)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:2164330
GRCh38:
Chr16:2114329
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(Jun 9, 2017)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:2166538
GRCh38:
Chr16:2116537
PKD1Polycystic kidney disease, adult type, not specifiedBenign/Likely benign
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:2166542
GRCh38:
Chr16:2116541
PKD1Polycystic kidney disease, adult type, not specifiedBenign/Likely benign
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:2140010
GRCh38:
Chr16:2090009
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:2140294
GRCh38:
Chr16:2090293
PKD1Polycystic kidney disease, adult type, not specifiedBenign/Likely benign
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:2140321
GRCh38:
Chr16:2090320
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 25, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr16:2140454
GRCh38:
Chr16:2090453
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 25, 2017)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:2140554
GRCh38:
Chr16:2090553
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 25, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:2140680
GRCh38:
Chr16:2090679
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:2140927
GRCh38:
Chr16:2090926
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:2140972
GRCh38:
Chr16:2090971
PKD1Polycystic kidney disease, adult type, not specifiedBenign
(May 30, 2017)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:2141454
GRCh38:
Chr16:2091453
PKD1, LOC105371049Polycystic kidney disease, adult type, not specifiedBenign
(May 30, 2017)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:2142113
GRCh38:
Chr16:2092112
PKD1, LOC105371049Polycystic kidney disease, adult type, not specifiedBenign
(May 30, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:2143865
GRCh38:
Chr16:2093864
PKD1, LOC105371049Polycystic kidney disease, adult type, not specifiedBenign
(May 15, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:2144176
GRCh38:
Chr16:2094175
PKD1, LOC105371049Polycystic kidney disease, adult type, not specifiedBenign
(May 15, 2017)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:2144182
GRCh38:
Chr16:2094181
PKD1, LOC105371049Polycystic kidney disease, adult type, not specifiedBenign
(May 31, 2018)
criteria provided, multiple submitters, no conflicts
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