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Links from MedGen

Items: 78

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:35787241
GRCh38:
Chr6:35819464
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Pathogenic
(Aug 1, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr6:35782370-35782371
GRCh38:
Chr6:35814593-35814594
LHFPL5R158fsAutosomal recessive nonsyndromic hearing loss 67Pathogenicno assertion criteria provided
3.
GRCh37:
Chr6:35791189
GRCh38:
Chr6:35823412
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Likely benign
(Jan 12, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr6:35791185
GRCh38:
Chr6:35823408
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Mar 16, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr6:35791175
GRCh38:
Chr6:35823398
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr6:35791173
GRCh38:
Chr6:35823396
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr6:35791171
GRCh38:
Chr6:35823394
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:35791169
GRCh38:
Chr6:35823392
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:35791167
GRCh38:
Chr6:35823390
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr6:35791163
GRCh38:
Chr6:35823386
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:35791159
GRCh38:
Chr6:35823382
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr6:35791128
GRCh38:
Chr6:35823351
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr6:35790983
GRCh38:
Chr6:35823206
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr6:35791351
GRCh38:
Chr6:35823574
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr6:35791258
GRCh38:
Chr6:35823481
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:35791252
GRCh38:
Chr6:35823475
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr6:35791250
GRCh38:
Chr6:35823473
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:35791248
GRCh38:
Chr6:35823471
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:35791243
GRCh38:
Chr6:35823466
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:35791231
GRCh38:
Chr6:35823454
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Mar 16, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:35791229
GRCh38:
Chr6:35823452
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr6:35790941
GRCh38:
Chr6:35823164
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr6:35787214
GRCh38:
Chr6:35819437
LHFPL5E217GAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:35782437
GRCh38:
Chr6:35814660
LHFPL5R176HAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr6:35773858
GRCh38:
Chr6:35806081
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr6:35791221
GRCh38:
Chr6:35823444
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr6:35791203
GRCh38:
Chr6:35823426
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr6:35773529
GRCh38:
Chr6:35805752
LHFPL5M28LAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr6:35773782
GRCh38:
Chr6:35806005
LHFPL5I112Tnot provided, Autosomal recessive nonsyndromic hearing loss 67Conflicting interpretations of pathogenicity
(Jan 29, 2021)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr6:35773774
GRCh38:
Chr6:35805997
LHFPL5I109MAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Aug 7, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr6:35782362
GRCh38:
Chr6:35814585
LHFPL5G151VAutosomal recessive nonsyndromic hearing loss 67, Hearing loss, autosomal recessivePathogenic/Likely pathogenic
(Jul 5, 2018)
no assertion criteria provided
32.
GRCh37:
Chr6:35773448
GRCh38:
Chr6:35805671
LHFPL5M1VAutosomal recessive nonsyndromic hearing loss 67Likely pathogenic
(Aug 1, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr6:35782485
GRCh38:
Chr6:35814708
LHFPL5L192PAutosomal recessive non-syndromic intellectual disability, Autosomal recessive nonsyndromic hearing loss 67Pathogenic
(Feb 12, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr6:35791777
GRCh38:
Chr6:35824000
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr6:35791752
GRCh38:
Chr6:35823975
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:35791569
GRCh38:
Chr6:35823792
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr6:35791545
GRCh38:
Chr6:35823768
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr6:35791532
GRCh38:
Chr6:35823755
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr6:35791521
GRCh38:
Chr6:35823744
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr6:35791520
GRCh38:
Chr6:35823743
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr6:35791302
GRCh38:
Chr6:35823525
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Benign
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr6:35791256
GRCh38:
Chr6:35823479
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr6:35791254
GRCh38:
Chr6:35823477
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Benign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr6:35791227
GRCh38:
Chr6:35823450
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Likely benign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr6:35791225
GRCh38:
Chr6:35823448
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Benign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:35791223
GRCh38:
Chr6:35823446
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Likely benign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr6:35791219
GRCh38:
Chr6:35823442
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr6:35791217
GRCh38:
Chr6:35823440
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr6:35791207
GRCh38:
Chr6:35823430
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr6:35791201
GRCh38:
Chr6:35823424
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr6:35791199
GRCh38:
Chr6:35823422
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr6:35791191
GRCh38:
Chr6:35823414
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr6:35791165
GRCh38:
Chr6:35823388
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Benign
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr6:35791161
GRCh38:
Chr6:35823384
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr6:35791127
GRCh38:
Chr6:35823350
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr6:35791087
GRCh38:
Chr6:35823310
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Benign
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr6:35790973
GRCh38:
Chr6:35823196
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr6:35790912
GRCh38:
Chr6:35823135
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr6:35790911
GRCh38:
Chr6:35823134
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr6:35782416
GRCh38:
Chr6:35814639
LHFPL5T169Mnot provided, Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:35773819
GRCh38:
Chr6:35806042
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr6:35773813
GRCh38:
Chr6:35806036
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr6:35773653
GRCh38:
Chr6:35805876
LHFPL5V69AAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr6:35773587
GRCh38:
Chr6:35805810
LHFPL5P47HAutosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr6:35773418
GRCh38:
Chr6:35805641
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr6:35773385
GRCh38:
Chr6:35805608
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr6:35773355
GRCh38:
Chr6:35805578
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr6:35773320
GRCh38:
Chr6:35805543
LHFPL5not provided, Autosomal recessive nonsyndromic hearing loss 67Conflicting interpretations of pathogenicity
(Aug 23, 2018)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr6:35773316
GRCh38:
Chr6:35805539
LHFPL5not provided, Autosomal recessive nonsyndromic hearing loss 67Conflicting interpretations of pathogenicity
(Sep 2, 2019)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr6:35773287
GRCh38:
Chr6:35805510
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr6:35773143
GRCh38:
Chr6:35805366
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr6:35773113
GRCh38:
Chr6:35805336
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr6:35773111
GRCh38:
Chr6:35805334
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:35773490
GRCh38:
Chr6:35805713
LHFPL5H15Ynot specified, Autosomal recessive nonsyndromic hearing loss 67, not provided
Conflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr6:35782404
GRCh38:
Chr6:35814627
LHFPL5T165MAutosomal recessive nonsyndromic hearing loss 67Pathogenic
(Jul 1, 2006)
no assertion criteria provided
76.
GRCh37:
Chr6:35782559
GRCh38:
Chr6:35814782
LHFPL5Abnormality of the earLikely pathogenic
(Jul 10, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr6:35773827
GRCh38:
Chr6:35806050
LHFPL5Y127CAutosomal recessive nonsyndromic hearing loss 67Pathogenic
(Aug 1, 2006)
no assertion criteria provided
78.
GRCh37:
Chr6:35773693
GRCh38:
Chr6:35805916
LHFPL5Autosomal recessive nonsyndromic hearing loss 67Pathogenic
(May 21, 2020)
criteria provided, single submitter
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