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Links from MedGen

Items: 1 to 100 of 128

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:8503770
GRCh38:
ChrX:8535729
ANOS1H568QHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
2.
GRCh37:
ChrX:8501036-8700077
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:8501036-8700077
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(May 9, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:8565308
GRCh38:
ChrX:8597267
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Aug 12, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:8504917
GRCh38:
ChrX:8536876
ANOS1R506WHypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases, not provided
Uncertain significance
(Aug 4, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:8522097
GRCh38:
ChrX:8554056
ANOS1Q417RHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:8700053
GRCh38:
ChrX:8732012
ANOS1V9IHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:8553329-8553330
GRCh38:
ChrX:8585288-8585289
ANOS1S278fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Mar 14, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:8536346
GRCh38:
ChrX:8568305
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Oct 18, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrX:8538539
GRCh38:
ChrX:8570498
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Apr 9, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:8565317
GRCh38:
ChrX:8597276
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Jul 23, 2022)
criteria provided, single submitter
12.
GRCh37:
ChrX:8699854
GRCh38:
ChrX:8731813
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Jun 26, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:8699871
GRCh38:
ChrX:8731830
ANOS1Q69HHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:8504933-8504934
GRCh38:
ChrX:8536892-8536893
ANOS1V500fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jul 3, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrX:8503775
GRCh38:
ChrX:8535734
ANOS1G567RHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:8553419
GRCh38:
ChrX:8585378
ANOS1Q249fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jun 14, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:8699939
GRCh38:
ChrX:8731898
ANOS1A47SHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:8565130
GRCh38:
ChrX:8597089
ANOS1K162NHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(May 29, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:8503646
GRCh38:
ChrX:8535605
ANOS1Q610fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(May 28, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:8555822
GRCh38:
ChrX:8587781
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(May 20, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:8502492
GRCh38:
ChrX:8534451
ANOS1V618IHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(May 25, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:8522104
GRCh38:
ChrX:8554063
ANOS1Q415KHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:8503731
GRCh38:
ChrX:8535690
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(May 25, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:8503651
GRCh38:
ChrX:8535610
ANOS1Q608LHypogonadotropic hypogonadism 1 with or without anosmiaBenign
(May 3, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:8538559
GRCh38:
ChrX:8570518
ANOS1R348QHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:8502388-8502396
GRCh38:
ChrX:8534347-8534355
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:8555838
GRCh38:
ChrX:8587797
ANOS1not provided, Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:8536337
GRCh38:
ChrX:8568296
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Aug 16, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:8553341
GRCh38:
ChrX:8585300
ANOS1T275AInborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmiaConflicting interpretations of pathogenicity
(Feb 23, 2023)
criteria provided, conflicting interpretations
30.
GRCh37:
ChrX:8553429
GRCh38:
ChrX:8585388
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Oct 25, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:8699980
GRCh38:
ChrX:8731939
ANOS1R33PHypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Jul 12, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:8591648
GRCh38:
ChrX:8623607
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Aug 17, 2021)
criteria provided, single submitter
33.
GRCh37:
ChrX:8522036
GRCh38:
ChrX:8553995
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
34.
GRCh37:
ChrX:8503648
GRCh38:
ChrX:8535607
ANOS1S609YHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:8502481-8502482
GRCh38:
ChrX:8534440-8534441
ANOS1P622fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jul 14, 2021)
criteria provided, single submitter
36.
GRCh37:
ChrX:8522098
GRCh38:
ChrX:8554057
ANOS1Q417*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Dec 6, 2020)
criteria provided, single submitter
37.
GRCh37:
ChrX:8699875
GRCh38:
ChrX:8731834
ANOS1F68fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(May 20, 2021)
criteria provided, single submitter
38.
GRCh37:
ChrX:8553350
GRCh38:
ChrX:8585309
ANOS1R272*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Aug 27, 2021)
criteria provided, single submitter
39.
GRCh37:
ChrX:8555975
GRCh38:
ChrX:8587934
ANOS1Q196*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Nov 4, 2021)
criteria provided, single submitter
40.
GRCh37:
ChrX:8538755
GRCh38:
ChrX:8570714
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
41.
GRCh37:
ChrX:8591646
GRCh38:
ChrX:8623605
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
42.
GRCh37:
ChrX:8555990
GRCh38:
ChrX:8587949
ANOS1R191*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(May 24, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:8501036-8591731
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Oct 14, 2021)
criteria provided, single submitter
44.
GRCh37:
ChrX:8699897-8699907
GRCh38:
ChrX:8731856-8731866
ANOS1Q57fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jul 30, 2021)
criteria provided, single submitter
45.
GRCh37:
ChrX:8538728
GRCh38:
ChrX:8570687
ANOS1A292THypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:8503718
GRCh38:
ChrX:8535677
ANOS1Q586*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Sep 1, 2021)
criteria provided, single submitter
47.
GRCh37:
ChrX:8503708
GRCh38:
ChrX:8535667
ANOS1W589*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Sep 1, 2021)
criteria provided, single submitter
48.
GRCh37:
ChrX:8536418
GRCh38:
ChrX:8568377
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Feb 14, 2022)
no assertion criteria provided
49.
GRCh37:
ChrX:8553320
GRCh38:
ChrX:8585279
ANOS1R282fsHypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Feb 14, 2022)
no assertion criteria provided
50.
GRCh37:
ChrX:8699985-8699986
GRCh38:
ChrX:8731944-8731945
ANOS1A32fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenicno assertion criteria provided
51.
GRCh37:
ChrX:8502436
GRCh38:
ChrX:8534395
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Feb 27, 2020)
criteria provided, single submitter
52.
GRCh37:
ChrX:8502453-8502454
GRCh38:
ChrX:8534412-8534413
ANOS1R631*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Aug 13, 2021)
criteria provided, single submitter
53.
GRCh37:
ChrX:8501040
GRCh38:
ChrX:8532999
ANOS1Y680CHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
54.
GRCh37:
ChrX:8502473
GRCh38:
ChrX:8534432
ANOS1L624RHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
55.
GRCh37:
ChrX:8565279
GRCh38:
ChrX:8597238
ANOS1S113RHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jan 31, 2020)
criteria provided, single submitter
56.
GRCh37:
ChrX:8504897
GRCh38:
ChrX:8536856
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaConflicting interpretations of pathogenicity
(Oct 12, 2021)
criteria provided, conflicting interpretations
57.
GRCh37:
ChrX:8553390
GRCh38:
ChrX:8585349
ANOS1W258fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Mar 10, 2021)
no assertion criteria provided
58.
GRCh37:
ChrX:8565101
GRCh38:
ChrX:8597060
ANOS1C172Snot provided, Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
ChrX:8504894
GRCh38:
ChrX:8536853
ANOS1E514fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Apr 19, 2017)
criteria provided, single submitter
60.
GRCh37:
ChrX:8699903-8699904
GRCh38:
ChrX:8731862-8731863
ANOS1T59fsHypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Oct 2, 2018)
criteria provided, single submitter
61.
GRCh37:
ChrX:8521973-8565317
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Oct 3, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:8502412
GRCh38:
ChrX:8534371
ANOS1not provided, Hypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
ChrX:8538712
GRCh38:
ChrX:8570671
ANOS1R297QHypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Sep 23, 2022)
criteria provided, single submitter
64.
GRCh37:
ChrX:8503729
GRCh38:
ChrX:8535688
ANOS1M582Tnot provided, Hypogonadotropic hypogonadism 1 with or without anosmiaBenign/Likely benign
(Aug 17, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
ChrX:8667780
GRCh38:
ChrX:8699739
ANOS1G72SHypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Oct 24, 2022)
criteria provided, single submitter
66.
GRCh37:
ChrX:8502423
GRCh38:
ChrX:8534382
ANOS1G641RHypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Dec 31, 2019)
criteria provided, single submitter
67.
GRCh37:
ChrX:8538696
GRCh38:
ChrX:8570655
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Jul 24, 2022)
criteria provided, single submitter
68.
GRCh37:
ChrX:8507773
GRCh38:
ChrX:8539732
ANOS1R461WHypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Mar 21, 2023)
criteria provided, conflicting interpretations
69.
GRCh37:
ChrX:8507735
GRCh38:
ChrX:8539694
ANOS1not provided, Hypogonadotropic hypogonadism 1 with or without anosmiaBenign/Likely benign
(Dec 8, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
ChrX:8503832
GRCh38:
ChrX:8535791
ANOS1not provided, Hypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Oct 23, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
ChrX:8700002
GRCh38:
ChrX:8731961
ANOS1G26RHypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
ChrX:8591703
GRCh38:
ChrX:8623662
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign/Likely benign
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrX:8555943
GRCh38:
ChrX:8587902
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaBenign/Likely benign
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
ChrX:8591654
GRCh38:
ChrX:8623613
ANOS1C105fsHypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Aug 27, 2019)
criteria provided, single submitter
75.
GRCh37:
ChrX:8553391
GRCh38:
ChrX:8585350
ANOS1W258*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Aug 27, 2019)
criteria provided, single submitter
76.
GRCh37:
ChrX:8521992
GRCh38:
ChrX:8553951
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(May 2, 2019)
criteria provided, single submitter
77.
GRCh37:
ChrX:8555815-8700097
GRCh38:
ChrX:8587774-8732056
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 10, 2018)
criteria provided, single submitter
78.
GRCh37:
ChrX:8507704
GRCh38:
ChrX:8539663
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Sep 1, 2021)
criteria provided, single submitter
79.
GRCh37:
ChrX:8503775
GRCh38:
ChrX:8535734
ANOS1G567Snot specified, Hypogonadotropic hypogonadism 1 with or without anosmiaConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
ChrX:8700054-8700055
GRCh38:
ChrX:8732013-8732014
ANOS1A8fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Aug 9, 2018)
criteria provided, single submitter
81.
GRCh37:
ChrX:8601505-8703029
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 10, 2017)
criteria provided, single submitter
82.
GRCh37:
ChrX:8555921
GRCh38:
ChrX:8587880
ANOS1P214Anot provided, Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
ChrX:8699920
GRCh38:
ChrX:8731879
ANOS1C53YHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
84.
GRCh37:
ChrX:8538645
GRCh38:
ChrX:8570604
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmia, not specifiedBenign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
ChrX:8521971-8521974
GRCh38:
ChrX:8553930-8553933
ANOS1not specified, Hypogonadotropic hypogonadism 1 with or without anosmia, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
ChrX:8503715
GRCh38:
ChrX:8535674
ANOS1V587LHypogonadotropic hypogonadism 1 with or without anosmia, not providedBenign/Likely benign
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
ChrX:8667735
GRCh38:
ChrX:8699694
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmia, not specifiedBenign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
ChrX:8522080
GRCh38:
ChrX:8554039
ANOS1R423*not provided, Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
ChrX:8565207
GRCh38:
ChrX:8597166
ANOS1P137AHypogonadotropic hypogonadism 1 with or without anosmiaLikely benign
(Sep 25, 2021)
criteria provided, single submitter
90.
GRCh37:
ChrX:8700077
GRCh38:
ChrX:8732036
ANOS1M1LHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Aug 12, 2021)
criteria provided, single submitter
91.
GRCh37:
ChrX:8503847
GRCh38:
ChrX:8535806
ANOS1V543IHypogonadotropic hypogonadism 1 with or without anosmia, not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
ChrX:8504901
GRCh38:
ChrX:8536860
ANOS1S511YHypogonadotropic hypogonadism 1 with or without anosmiaBenign
(Oct 24, 2022)
criteria provided, single submitter
93.
GRCh37:
ChrX:8667719-8700097
GRCh38:
ChrX:8699678-8732056
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Sep 6, 2018)
criteria provided, single submitter
94.
GRCh37:
ChrX:8502389
GRCh38:
ChrX:8534348
ANOS1T652KHypogonadotropic hypogonadism 1 with or without anosmiaUncertain significance
(Apr 20, 2017)
no assertion criteria provided
95.
GRCh37:
ChrX:8699969
GRCh38:
ChrX:8731928
ANOS1E37*Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jan 27, 2017)
criteria provided, single submitter
96.
GRCh37:
ChrX:8556006
GRCh38:
ChrX:8587965
ANOS1K185NHypogonadotropic hypogonadism 1 with or without anosmia, not specified, not provided
Benign/Likely benign
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
ChrX:8565194
GRCh38:
ChrX:8597153
ANOS1S141NHypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Jan 6, 2017)
criteria provided, single submitter
98.
GRCh37:
ChrX:8667734
GRCh38:
ChrX:8699693
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmiaPathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
ChrX:8700044-8700045
GRCh38:
ChrX:8732003-8732004
ANOS1L12fsHypogonadotropic hypogonadism 1 with or without anosmiaPathogenic
(Jul 9, 2015)
criteria provided, single submitter
100.
GRCh37:
ChrX:8699933
GRCh38:
ChrX:8731892
ANOS1C49RHypogonadotropic hypogonadism 1 with or without anosmiaLikely pathogenic
(Feb 1, 2016)
criteria provided, single submitter
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