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Items: 1 to 100 of 563

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:27556595
GRCh38:
Chr9:27556597
C9orf72T352RFrontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Oct 15, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr5:179251036
GRCh38:
Chr5:179824036
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jun 20, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr5:178413111-179263593
Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Oct 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr5:179260567-179263593
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Aug 7, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr5:179251230
GRCh38:
Chr5:179824230
SQSTM1G110R, G194RFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(May 27, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr5:179251281
GRCh38:
Chr5:179824281
SQSTM1P211S, P127SPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr5:179251085
GRCh38:
Chr5:179824085
SQSTM1E93Q, E177QFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr5:179251229
GRCh38:
Chr5:179824229
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Aug 6, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr5:179260100
GRCh38:
Chr5:179833100
SQSTM1S191C, S275CFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr5:179251021
GRCh38:
Chr5:179824021
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jul 11, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr5:179250943
GRCh38:
Chr5:179823943
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Mar 1, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:179260241
GRCh38:
Chr5:179833241
SQSTM1P322T, P238TFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr5:179247961
GRCh38:
Chr5:179820961
SQSTM1Y9HFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr5:179247967
GRCh38:
Chr5:179820967
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Sep 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:179260764
GRCh38:
Chr5:179833764
SQSTM1Y299H, Y383HFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:179260178
GRCh38:
Chr5:179833178
SQSTM1E217*, E301*Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Pathogenic
(Oct 20, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:179260778
GRCh38:
Chr5:179833778
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Apr 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:179251007
GRCh38:
Chr5:179824007
SQSTM1C151G, C67Gnot provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Conflicting interpretations of pathogenicity
(Sep 12, 2023)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr5:179260062
GRCh38:
Chr5:179833062
SQSTM1G178E, G262EPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 9, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:179251101
GRCh38:
Chr5:179824101
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(May 30, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:179263587
GRCh38:
Chr5:179836587
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Jul 25, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr5:179260260
GRCh38:
Chr5:179833260
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(May 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:179260688
GRCh38:
Chr5:179833688
SQSTM1Q273H, Q357HPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr5:179260728
GRCh38:
Chr5:179833728
SQSTM1Q287K, Q371KPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:179251001
GRCh38:
Chr5:179824001
SQSTM1D149N, D65NPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Jan 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:179248152
GRCh38:
Chr5:179821152
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Oct 31, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:179248020
GRCh38:
Chr5:179821020
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jun 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:179251078
GRCh38:
Chr5:179824078
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Feb 10, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:179263519
GRCh38:
Chr5:179836519
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(May 4, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:179250889
GRCh38:
Chr5:179823889
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(May 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:179252200
GRCh38:
Chr5:179825200
SQSTM1S243T, S159TPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:179263511
GRCh38:
Chr5:179836511
SQSTM1T414I, T330IPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(May 27, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr5:179251206
GRCh38:
Chr5:179824206
SQSTM1R102W, R186WPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Sep 5, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:179260012
GRCh38:
Chr5:179833012
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Jan 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:179250845
GRCh38:
Chr5:179823845
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Jul 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:179263443
GRCh38:
Chr5:179836443
SQSTM1P392fs, P308fsFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetPathogenic
(Apr 11, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:179251019
GRCh38:
Chr5:179824019
SQSTM1E155K, E71KFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:179260677
GRCh38:
Chr5:179833677
SQSTM1Q270K, Q354KFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(May 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:179247972
GRCh38:
Chr5:179820972
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:179249963
GRCh38:
Chr5:179822963
SQSTM1D71NPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:179260773
GRCh38:
Chr5:179833773
SQSTM1L302V, L386VPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:179250945
GRCh38:
Chr5:179823945
SQSTM1G46V, G130VPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Apr 10, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:179250848
GRCh38:
Chr5:179823848
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Apr 3, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:179250992
GRCh38:
Chr5:179823992
SQSTM1P146S, P62SFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:179251254
GRCh38:
Chr5:179824254
SQSTM1P202S, P118SPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:179260606
GRCh38:
Chr5:179833606
SQSTM1N246T, N330TPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:179248045-179248051
GRCh38:
Chr5:179821045-179821051
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:179250073
GRCh38:
Chr5:179823073
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:179263585
GRCh38:
Chr5:179836585
SQSTM1P355S, P439SFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:179247939
GRCh38:
Chr5:179820939
SQSTM1M1IFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:179260691
GRCh38:
Chr5:179833691
SQSTM1M358I, M274IFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:179248034
GRCh38:
Chr5:179821034
SQSTM1A33GFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:179250951
GRCh38:
Chr5:179823951
SQSTM1N48S, N132SPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(May 11, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:179260097
GRCh38:
Chr5:179833097
SQSTM1E190*, E274*Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Pathogenic
(Aug 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:179250958
GRCh38:
Chr5:179823958
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(May 15, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:179260687
GRCh38:
Chr5:179833687
SQSTM1Q273R, Q357RPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:179263460
GRCh38:
Chr5:179836460
SQSTM1S397Y, S313YFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:179260792
GRCh38:
Chr5:179833792
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Aug 9, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr5:179260789
GRCh38:
Chr5:179833789
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Aug 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:179251071
GRCh38:
Chr5:179824071
SQSTM1F172Y, F88YFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:179263539
GRCh38:
Chr5:179836539
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jun 16, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr5:179251285
GRCh38:
Chr5:179824285
SQSTM1R212H, R128HFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset, Inborn genetic diseases
Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:179251271
GRCh38:
Chr5:179824271
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Mar 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:179260579
GRCh38:
Chr5:179833579
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Sep 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:179260200
GRCh38:
Chr5:179833200
SQSTM1A224E, A308EFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:179260631
GRCh38:
Chr5:179833631
SQSTM1W254C, W338CPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:179251017
GRCh38:
Chr5:179824017
SQSTM1C70F, C154FPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Jun 4, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr5:179247970
GRCh38:
Chr5:179820970
SQSTM1G12RPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Sep 9, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:179252190
GRCh38:
Chr5:179825190
SQSTM1V156I, V240IFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:179251029
GRCh38:
Chr5:179824029
SQSTM1G74D, G158DFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:179260768
GRCh38:
Chr5:179833768
SQSTM1P300L, P384LFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:179250895
GRCh38:
Chr5:179823895
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Aug 15, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:179250912
GRCh38:
Chr5:179823912
SQSTM1R35H, R119HFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jul 9, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:179251258
GRCh38:
Chr5:179824258
SQSTM1P203L, P119LFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:179249950
GRCh38:
Chr5:179822950
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Dec 28, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr5:179260211
GRCh38:
Chr5:179833211
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Oct 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:179249947
GRCh38:
Chr5:179822947
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Sep 1, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:179248155
GRCh38:
Chr5:179821155
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Oct 20, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr5:179263584-179263585
GRCh38:
Chr5:179836584-179836585
SQSTM1L356fs, L440fsFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr5:179248050
GRCh38:
Chr5:179821050
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Oct 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr5:179252179
GRCh38:
Chr5:179825179
SQSTM1F236C, F152CPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Nov 2, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:179251189
GRCh38:
Chr5:179824189
SQSTM1S96L, S180LFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:179251238
GRCh38:
Chr5:179824238
SQSTM1Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Likely benign
(Jun 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:179263583
GRCh38:
Chr5:179836583
SQSTM1P354R, P438RFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(May 28, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:179260790
GRCh38:
Chr5:179833790
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(May 27, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:179250919
GRCh38:
Chr5:179823919
SQSTM1M121I, M37IFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:179252223
GRCh38:
Chr5:179825223
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jun 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:179252237
GRCh38:
Chr5:179825237
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Sep 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:179260028
GRCh38:
Chr5:179833028
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jul 6, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr5:179248143
GRCh38:
Chr5:179821143
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely pathogenic
(Oct 17, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:179260766
GRCh38:
Chr5:179833766
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Oct 4, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:179260602
GRCh38:
Chr5:179833602
SQSTM1D329N, D245NFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr5:179263524
GRCh38:
Chr5:179836524
SQSTM1Q334H, Q418HFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:179248128
GRCh38:
Chr5:179821128
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Mar 13, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:179248032
GRCh38:
Chr5:179821032
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Jun 9, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:179250923
GRCh38:
Chr5:179823923
SQSTM1H123Y, H39YFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr5:179260594-179260595
GRCh38:
Chr5:179833594-179833595
SQSTM1E327fs, E243fsFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetPathogenic
(Jan 3, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr5:179260619
GRCh38:
Chr5:179833619
SQSTM1Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetLikely benign
(Aug 13, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr5:179260618
GRCh38:
Chr5:179833618
SQSTM1G334E, G250EFrontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onsetUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr5:179260110
GRCh38:
Chr5:179833110
SQSTM1T194I, T278IPaget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
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