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Links from MedGen

Items: 1 to 100 of 239

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:66788225-67021550
ARAndrogen resistance syndrome, Kennedy diseasePathogenic
(Oct 12, 2021)
criteria provided, single submitter
2.
GRCh37:
ChrX:66765795
GRCh38:
ChrX:67545953
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Jul 26, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:66765720
GRCh38:
ChrX:67545878
ARAndrogen resistance syndrome, Kennedy diseaseLikely benign
(Aug 31, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:66765735
GRCh38:
ChrX:67545893
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Oct 13, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:66765234
GRCh38:
ChrX:67545392
LOC109504725, ARAndrogen resistance syndrome, Kennedy diseaseLikely benign
(Aug 22, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:66766028
GRCh38:
ChrX:67546186
ARL347RAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:66943661
GRCh38:
ChrX:67723819
ARP914R, P382RKennedy disease, Androgen resistance syndromeUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:66943630
GRCh38:
ChrX:67723788
ARV904M, V372MKennedy disease, Androgen resistance syndromeLikely pathogenic
(Jul 16, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:66941758
GRCh38:
ChrX:67721916
ARQ803fs, Q271fsKennedy disease, Androgen resistance syndromePathogenic
(Oct 6, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrX:66937402
GRCh38:
ChrX:67717560
ARW220*, W752*Kennedy disease, Androgen resistance syndromePathogenic
(Jan 16, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:66931514
GRCh38:
ChrX:67711672
ARW719*, W187*Kennedy disease, Androgen resistance syndromePathogenic
(Apr 6, 2022)
criteria provided, single submitter
12.
GRCh37:
ChrX:66931445
GRCh38:
ChrX:67711603
ARD164V, D696VKennedy disease, Androgen resistance syndromeLikely pathogenic
(Mar 4, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:66931400
GRCh38:
ChrX:67711558
ARI149T, I681TKennedy disease, Androgen resistance syndromeUncertain significance
(Mar 30, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:66941810
GRCh38:
ChrX:67721968
ARKennedy disease, Androgen resistance syndromeUncertain significance
(May 5, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrX:66941683
GRCh38:
ChrX:67721841
ARM776T, M244TAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:66765955
GRCh38:
ChrX:67546113
ARE323*Androgen resistance syndrome, Kennedy diseasePathogenic
(Apr 8, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:66937366
GRCh38:
ChrX:67717524
ARY740*, Y208*Androgen resistance syndrome, Kennedy diseasePathogenic
(Jan 19, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:66863237
GRCh38:
ChrX:67643395
ARR586*, R54*Androgen resistance syndrome, Kennedy diseasePathogenic
(Jan 7, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:66931518-66931519
GRCh38:
ChrX:67711676-67711677
ARA190fs, A722fsAndrogen resistance syndrome, Kennedy diseasePathogenic
(Dec 31, 2021)
criteria provided, single submitter
20.
GRCh37:
ChrX:66765228
GRCh38:
ChrX:67545386
AR, LOC109504725Androgen resistance syndrome, Kennedy diseaseLikely benign
(Aug 22, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:66765158-66765159
GRCh38:
ChrX:67545316-67545317
LOC109504725, ARAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(May 17, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:66863168
GRCh38:
ChrX:67643326
ARC31R, C563RAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:66863195
GRCh38:
ChrX:67643353
ARY40D, Y572DAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:66765720
GRCh38:
ChrX:67545878
ARV245fsAndrogen resistance syndrome, Kennedy diseasePathogenic
(Jul 15, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:66937335-66937343
GRCh38:
ChrX:67717493-67717501
ARAndrogen resistance syndrome, Kennedy diseasePathogenic
(Feb 17, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:66943586
GRCh38:
ChrX:67723744
ARS889I, S357IKennedy disease, Androgen resistance syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:66765292
GRCh38:
ChrX:67545450
ARR102*Androgen resistance syndrome, Kennedy diseasePathogenic
(Jul 3, 2022)
criteria provided, single submitter
28.
GRCh37:
ChrX:66937318
GRCh38:
ChrX:67717476
ARKennedy disease, Androgen resistance syndromeLikely pathogenic
(May 29, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:66766212
GRCh38:
ChrX:67546370
ARY408*Androgen resistance syndrome, Kennedy diseasePathogenic
(Oct 1, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:66766231
GRCh38:
ChrX:67546389
ARH415YKennedy disease, Androgen resistance syndromeBenign
(Jun 10, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:66931284
GRCh38:
ChrX:67711442
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Aug 9, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:66766467
GRCh38:
ChrX:67546625
ARKennedy disease, Androgen resistance syndromeBenign
(Jun 3, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:66943681
GRCh38:
ChrX:67723839
ARAndrogen resistance syndrome, Kennedy diseaseLikely pathogenic
(Mar 28, 2022)
criteria provided, single submitter
34.
GRCh37:
ChrX:66765797
GRCh38:
ChrX:67545955
ARA270DAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:66941748
GRCh38:
ChrX:67721906
ARL266I, L798IAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:66766616
GRCh38:
ChrX:67546774
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Sep 12, 2022)
criteria provided, single submitter
37.
GRCh37:
ChrX:66788225
GRCh38:
ChrX:67568383
ARKennedy disease, Androgen resistance syndromeBenign
(Nov 2, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:66863224
GRCh38:
ChrX:67643382
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Feb 22, 2021)
criteria provided, single submitter
39.
GRCh37:
ChrX:66943509-66943510
GRCh38:
ChrX:67723667-67723668
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Oct 25, 2022)
criteria provided, single submitter
40.
GRCh37:
ChrX:66765242-66765243
GRCh38:
ChrX:67545400-67545401
AR, LOC109504725Androgen resistance syndrome, Kennedy diseaseLikely benign
(Sep 13, 2022)
criteria provided, single submitter
41.
GRCh37:
ChrX:66942846
GRCh38:
ChrX:67723004
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Dec 28, 2020)
criteria provided, single submitter
42.
GRCh37:
ChrX:66766357-66766383
GRCh38:
ChrX:67546515-67546541
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Oct 17, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:66765159-66765194
GRCh38:
ChrX:67545317-67545352
AR, LOC109504725Kennedy disease, Androgen resistance syndromeBenign
(Aug 12, 2021)
criteria provided, single submitter
44.
GRCh37:
ChrX:66943668
GRCh38:
ChrX:67723826
ARF385fs, F917fsAndrogen resistance syndrome, Kennedy diseaseLikely pathogenic
(Jul 13, 2021)
criteria provided, single submitter
45.
GRCh37:
ChrX:66863219
GRCh38:
ChrX:67643377
ARC580S, C48SAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
46.
GRCh37:
ChrX:66931484
GRCh38:
ChrX:67711642
ARG177V, G709VAndrogen resistance syndrome, Kennedy diseaseLikely pathogenic
(Aug 27, 2021)
criteria provided, single submitter
47.
GRCh37:
ChrX:66937425
GRCh38:
ChrX:67717583
ARS228Y, S760YKennedy disease, Androgen resistance syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
48.
GRCh37:
ChrX:66765971
GRCh38:
ChrX:67546129
ARS328CAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
49.
GRCh37:
ChrX:66863196
GRCh38:
ChrX:67643354
ARY572F, Y40FAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Oct 4, 2021)
criteria provided, single submitter
50.
GRCh37:
ChrX:66764995
GRCh38:
ChrX:67545153
ARV3MOvarian cancer, Androgen resistance syndrome, Malignant tumor of prostate,
Kennedy disease, Partial androgen insensitivity syndrome, Hypospadias 1, X-linked,
Androgen resistance syndrome, Kennedy disease
Conflicting interpretations of pathogenicity
(Feb 9, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
ChrX:66943664
GRCh38:
ChrX:67723822
ARI383N, I915NKennedy disease, Androgen resistance syndromeUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:66937464
GRCh38:
ChrX:67717622
ARE241G, E773GKennedy disease, Androgen resistance syndromeLikely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
53.
GRCh37:
ChrX:66764989
GRCh38:
ChrX:67545147
ARM1LAndrogen resistance syndrome, Kennedy diseaseLikely pathogenic
(Nov 24, 2021)
criteria provided, single submitter
54.
GRCh37:
ChrX:66766407-66766409
GRCh38:
ChrX:67546565-67546567
ARE474delAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
55.
GRCh37:
ChrX:66942734
GRCh38:
ChrX:67722892
ARL839I, L307IAndrogen resistance syndrome, Kennedy diseasePathogenic
(Nov 4, 2021)
criteria provided, single submitter
56.
GRCh37:
ChrX:66931224-66931551
ARAndrogen resistance syndrome, Kennedy diseasePathogenic
(Sep 16, 2021)
criteria provided, single submitter
57.
GRCh37:
ChrX:66942731
GRCh38:
ChrX:67722889
ARE306*, E838*Kennedy disease, Androgen resistance syndromePathogenic
(Jun 4, 2021)
criteria provided, single submitter
58.
GRCh37:
ChrX:66765816-66765817
GRCh38:
ChrX:67545974-67545975
ARV279fsKennedy disease, Androgen resistance syndromePathogenic
(Feb 14, 2021)
criteria provided, single submitter
59.
GRCh37:
ChrX:66863186
GRCh38:
ChrX:67643344
ARC570fs, C38fsKennedy disease, Androgen resistance syndromePathogenic
(Jul 13, 2021)
criteria provided, single submitter
60.
GRCh37:
ChrX:66941655-66943683
ARKennedy disease, Androgen resistance syndromePathogenic
(Oct 15, 2021)
criteria provided, single submitter
61.
GRCh37:
ChrX:66905970
GRCh38:
ChrX:67686128
ARAndrogen resistance syndrome, Kennedy diseasePathogenic
(Nov 4, 2021)
criteria provided, single submitter
62.
GRCh37:
ChrX:66765155-66765156
GRCh38:
ChrX:67545313-67545314
ARAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:66766357-66766389
GRCh38:
ChrX:67546515-67546547
ARAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
64.
GRCh37:
ChrX:66765346
GRCh38:
ChrX:67545504
ARQ120*Androgen resistance syndrome, Kennedy diseasePathogenic
(Aug 24, 2021)
criteria provided, single submitter
65.
GRCh37:
ChrX:66766465
GRCh38:
ChrX:67546623
ARQ493*Androgen resistance syndrome, Kennedy diseasePathogenic
(Oct 14, 2021)
criteria provided, single submitter
66.
GRCh37:
ChrX:66943573
GRCh38:
ChrX:67723731
ARS353P, S885PAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
67.
GRCh37:
ChrX:66765158-66765159
GRCh38:
ChrX:67545316-67545317
AR, LOC109504725Androgen resistance syndrome, Kennedy diseaseUncertain significance
(Nov 2, 2021)
criteria provided, single submitter
68.
GRCh37:
ChrX:66941674-66941675
GRCh38:
ChrX:67721832-67721833
ARY774*, Y242*Androgen resistance syndrome, Kennedy diseasePathogenic
(Jul 31, 2021)
criteria provided, single submitter
69.
GRCh37:
ChrX:66941716
GRCh38:
ChrX:67721874
ARR787P, R255PAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
70.
GRCh37:
ChrX:66766431
GRCh38:
ChrX:67546589
ARY481*Kennedy disease, Androgen resistance syndromePathogenic
(Oct 14, 2021)
criteria provided, single submitter
71.
GRCh37:
ChrX:66863252
GRCh38:
ChrX:67643410
ARAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Jan 19, 2021)
criteria provided, single submitter
72.
GRCh37:
ChrX:66937343
GRCh38:
ChrX:67717501
ARD201N, D733NAndrogen resistance syndrome, Kennedy disease, not provided
Pathogenic/Likely pathogenic
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrX:66766017
GRCh38:
ChrX:67546175
ARKennedy disease, Androgen resistance syndrome, not specified
Benign
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
ChrX:66765159-66765164
GRCh38:
ChrX:67545317-67545322
AR, LOC109504725not provided, Kennedy disease, Androgen resistance syndrome
Benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
ChrX:66942625
GRCh38:
ChrX:67722783
ARAndrogen resistance syndrome, Kennedy disease, not provided
Benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
ChrX:66905875
GRCh38:
ChrX:67686033
ARQ570R, S598G, S66GMalignant tumor of prostate, Kennedy disease, Androgen resistance syndrome,
Non-obstructive azoospermia
Conflicting interpretations of pathogenicity
(Jun 13, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
ChrX:66765802
GRCh38:
ChrX:67545960
ARL272FKennedy disease, Androgen resistance syndromeBenign
(May 29, 2022)
criteria provided, single submitter
78.
GRCh37:
ChrX:66765158-66765159
GRCh38:
ChrX:67545316-67545317
AR, LOC109504725Androgen resistance syndrome, Partial androgen insensitivity syndrome, Kennedy disease,
Hypospadias 1, X-linked, Malignant tumor of prostate, not provided
Likely benign
(Dec 6, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
ChrX:66905871
GRCh38:
ChrX:67686029
ARR569Cnot provided, Androgen resistance syndrome, Kennedy disease
Benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
ChrX:66766356-66766357
GRCh38:
ChrX:67546514-67546515
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Oct 17, 2022)
criteria provided, single submitter
81.
GRCh37:
ChrX:66766356-66766357
GRCh38:
ChrX:67546514-67546515
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Oct 5, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:66766357-66766374
GRCh38:
ChrX:67546515-67546532
ARnot provided, Androgen resistance syndrome, Kennedy disease
Benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
ChrX:66765312
GRCh38:
ChrX:67545470
ARnot specified, Androgen resistance syndrome, Kennedy disease,
not provided
Benign/Likely benign
(Jan 16, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
ChrX:66765158-66765159
GRCh38:
ChrX:67545316-67545317
LOC109504725, ARKennedy disease, Androgen resistance syndrome, not provided
Benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
ChrX:66766357-66766380
GRCh38:
ChrX:67546515-67546538
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(May 27, 2022)
criteria provided, single submitter
86.
GRCh37:
ChrX:66766289
GRCh38:
ChrX:67546447
ARS434FAndrogen resistance syndrome, Kennedy disease, Malignant tumor of prostate,
Non-obstructive azoospermia
Conflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
ChrX:66766357-66766377
GRCh38:
ChrX:67546515-67546535
ARnot specified, Androgen resistance syndrome, Kennedy disease,
not provided
Benign
(Aug 1, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
ChrX:66941744
GRCh38:
ChrX:67721902
ARAndrogen resistance syndrome, Kennedy diseaseBenign
(Feb 4, 2022)
criteria provided, single submitter
89.
GRCh37:
ChrX:66765159-66765188
GRCh38:
ChrX:67545317-67545346
AR, LOC109504725Androgen resistance syndrome, Kennedy disease, not provided
Benign/Likely benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
ChrX:66766113
GRCh38:
ChrX:67546271
ARKennedy disease, Androgen resistance syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
91.
GRCh37:
ChrX:66766051
GRCh38:
ChrX:67546209
ARE355*Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome
Pathogenic
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
ChrX:66863218
GRCh38:
ChrX:67643376
ARC48fs, C580fsAndrogen resistance syndrome, Kennedy diseasePathogenic
(Feb 27, 2020)
criteria provided, single submitter
93.
GRCh37:
ChrX:66863078-66943703
ARAndrogen resistance syndrome, Kennedy diseasePathogenic
(Jun 2, 2020)
criteria provided, single submitter
94.
GRCh37:
ChrX:66905832-66905988
ARKennedy disease, Androgen resistance syndromePathogenic
(Aug 4, 2021)
criteria provided, single submitter
95.
GRCh37:
ChrX:66937371
GRCh38:
ChrX:67717529
ARW210L, W742LAndrogen resistance syndrome, Kennedy diseasePathogenic
(Aug 28, 2021)
criteria provided, single submitter
96.
GRCh37:
ChrX:66937383
GRCh38:
ChrX:67717541
ARM214T, M746TAndrogen resistance syndrome, Androgen resistance syndrome, Kennedy disease
Pathogenic/Likely pathogenic
(Nov 30, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
ChrX:66931247
GRCh38:
ChrX:67711405
ARR630Q, R98QAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
98.
GRCh37:
ChrX:66931517
GRCh38:
ChrX:67711675
ARA188V, A720VAndrogen resistance syndrome, Kennedy disease, Androgen resistance syndrome
Conflicting interpretations of pathogenicity
(May 8, 2023)
criteria provided, conflicting interpretations
99.
GRCh37:
ChrX:66943661
GRCh38:
ChrX:67723819
ARP382H, P914HAndrogen resistance syndrome, Kennedy diseaseUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
100.
GRCh37:
ChrX:66765158
GRCh38:
ChrX:67545316
ARL57QAndrogen resistance syndrome, Kennedy disease, Ovarian cancer,
not specified, not provided
Benign/Likely benign
(Jun 14, 2023)
criteria provided, multiple submitters, no conflicts
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