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Items: 1 to 100 of 435

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:61693641
GRCh38:
Chr8:60781082
CHD7, LOC126860403S583THypogonadotropic hypogonadism 5 with or without anosmiaUncertain significance
(Oct 30, 2023)
no assertion criteria provided
2.
GRCh37:
Chr8:61769448-61774754
CHD7Hypogonadotropic hypogonadism 5 with or without anosmiaLikely pathogenic
(Apr 19, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr8:61777592
GRCh38:
Chr8:60865033
CHD7M2699fs, M650fsHypogonadotropic hypogonadism 5 with or without anosmiaLikely pathogenic
(Feb 1, 2022)
no assertion criteria provided
4.
GRCh37:
Chr8:61778086
GRCh38:
Chr8:60865527
CHD7A2863D, A814DCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:61693574
GRCh38:
Chr8:60781015
CHD7, LOC126860403P561TCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided,
CHARGE association
Uncertain significance
(Apr 14, 2023)
criteria provided, multiple submitters, no conflicts
6.
CHD7E2849fs, E800fsCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmiaPathogenic
(Jan 24, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr8:61749556
GRCh38:
Chr8:60836997
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:61736593
GRCh38:
Chr8:60824034
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:61761597
GRCh38:
Chr8:60849038
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:61743152
GRCh38:
Chr8:60830593
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Oct 21, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr8:61707536
GRCh38:
Chr8:60794977
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Mar 12, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr8:61749590
GRCh38:
Chr8:60837031
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr8:61741385
GRCh38:
Chr8:60828826
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr8:61767070
GRCh38:
Chr8:60854511
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr8:61763889
GRCh38:
Chr8:60851330
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr8:61749433
GRCh38:
Chr8:60836874
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr8:61754330
GRCh38:
Chr8:60841771
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr8:61734504
GRCh38:
Chr8:60821945
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Benign/Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr8:61757453
GRCh38:
Chr8:60844894
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr8:61714070
GRCh38:
Chr8:60801511
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:61654477
GRCh38:
Chr8:60741918
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh38:
Chr8:60867891-60867903
CHD7Hypogonadotropic hypogonadism 5 with or without anosmiaUncertain significance
(Apr 13, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr8:61655229
GRCh38:
Chr8:60742670
CHD7V413GHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Feb 1, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr8:61765916
GRCh38:
Chr8:60853357
CHD7A2211Dnot provided, CHARGE association, CHARGE association,
Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(Feb 7, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr8:61777692
GRCh38:
Chr8:60865133
CHD7A2732T, A683TCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
not provided
Uncertain significance
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr8:61768607
GRCh38:
Chr8:60856048
CHD7R2337HCHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr8:61693964
GRCh38:
Chr8:60781405
CHD7, LOC126860403K691ECHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr8:61654539
GRCh38:
Chr8:60741980
CHD7P183LCHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr8:61754290
GRCh38:
Chr8:60841731
CHD7D1541NInborn genetic diseases, CHARGE association, CHARGE association,
Hypogonadotropic hypogonadism 5 with or without anosmia
Conflicting interpretations of pathogenicity
(Dec 7, 2021)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr8:61735265
GRCh38:
Chr8:60822706
CHD7R1054Qnot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Conflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr8:61736495
GRCh38:
Chr8:60823936
CHD7R1100CCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmiaUncertain significance
(Dec 8, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr8:61654662
GRCh38:
Chr8:60742103
CHD7N224SHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr8:61743064
GRCh38:
Chr8:60830505
CHD7A1236THypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr8:61778296
GRCh38:
Chr8:60865737
CHD7S2933C, S884CHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association,
Inborn genetic diseases
Uncertain significance
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr8:61654269
GRCh38:
Chr8:60741710
CHD7T93IHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr8:61769037
GRCh38:
Chr8:60856478
CHD7R2400WCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Apr 27, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr8:61768564
GRCh38:
Chr8:60856005
CHD7I2323VCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Conflicting interpretations of pathogenicity
(Sep 12, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr8:61764647
GRCh38:
Chr8:60852088
CHD7R1912Hnot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Conflicting interpretations of pathogenicity
(Jan 31, 2023)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr8:61734578
GRCh38:
Chr8:60822019
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr8:61773572
GRCh38:
Chr8:60861013
CHD7N2573SHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Conflicting interpretations of pathogenicity
(Jul 27, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr8:61693890
GRCh38:
Chr8:60781331
CHD7, LOC126860403K666RCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Oct 23, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr8:61654100
GRCh38:
Chr8:60741541
CHD7M37VCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided,
CHARGE association
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr8:61766928
GRCh38:
Chr8:60854369
CHD7A2261VCHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
not provided
Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr8:61654727
GRCh38:
Chr8:60742168
CHD7A246PCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr8:61654929
GRCh38:
Chr8:60742370
CHD7Y313CCHARGE association, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr8:61693964
GRCh38:
Chr8:60781405
CHD7, LOC126860403K691Qnot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Uncertain significance
(Nov 11, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr8:61655033
GRCh38:
Chr8:60742474
CHD7P348TInborn genetic diseases, CHARGE association, CHARGE association,
Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr8:61778055
GRCh38:
Chr8:60865496
CHD7E2853K, E804Knot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association, Inborn genetic diseases
Uncertain significance
(Sep 28, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr8:61707546
GRCh38:
Chr8:60794987
CHD7N700DCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:61777729
GRCh38:
Chr8:60865170
CHD7L2744S, L695SHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association,
Inborn genetic diseases
Uncertain significance
(May 15, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr8:61655568
GRCh38:
Chr8:60743009
CHD7Q526RHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE associationUncertain significance
(Mar 21, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr8:61693860
GRCh38:
Chr8:60781301
CHD7, LOC126860403P656Lnot specified, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Conflicting interpretations of pathogenicity
(Jul 5, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr8:61735147
GRCh38:
Chr8:60822588
CHD7I1015VCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr8:61754556
GRCh38:
Chr8:60841997
CHD7Q1599EHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided,
CHARGE association
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr8:61655337
GRCh38:
Chr8:60742778
CHD7N449SHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
Uncertain significance
(Jul 27, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr8:61765462
GRCh38:
Chr8:60852903
CHD7L2060VHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
Uncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr8:61764775
GRCh38:
Chr8:60852216
CHD7R1955Gnot provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr8:61655436
GRCh38:
Chr8:60742877
CHD7G482AHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr8:61693600
GRCh38:
Chr8:60781041
CHD7, LOC126860403D569Enot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr8:61765453
GRCh38:
Chr8:60852894
CHD7R2057CCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr8:61754495
GRCh38:
Chr8:60841936
CHD7D1578ECHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr8:61655154
GRCh38:
Chr8:60742595
CHD7G388ECHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
not provided
Uncertain significance
(Dec 22, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr8:61775107
GRCh38:
Chr8:60862548
CHD7M2658V, M609Vnot provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr8:61778265
GRCh38:
Chr8:60865706
CHD7A2923T, A874Tnot provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
CHARGE association
Uncertain significance
(Jan 25, 2023)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr8:61655484
GRCh38:
Chr8:60742925
CHD7G498DCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(May 14, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr8:61774792
GRCh38:
Chr8:60862233
CHD7P2623L, P574Lnot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr8:61764746
GRCh38:
Chr8:60852187
CHD7R1945QCHD7-related condition, not provided, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association, CHARGE association
Uncertain significance
(Mar 27, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:61777909
GRCh38:
Chr8:60865350
CHD7A2804V, A755VCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
Uncertain significance
(Mar 20, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr8:61732627
GRCh38:
Chr8:60820068
CHD7R892HCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
not provided
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr8:61754481
GRCh38:
Chr8:60841922
CHD7M1574LHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr8:61777639
GRCh38:
Chr8:60865080
CHD7A2714V, A665VCHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
not provided
Conflicting interpretations of pathogenicity
(Aug 18, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr8:61769324
GRCh38:
Chr8:60856765
CHD7R2495SCHARGE association, not provided, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association, Inborn genetic diseases
Benign/Likely benign
(Apr 9, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr8:61736435
GRCh38:
Chr8:60823876
CHD7I1080VHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided,
CHARGE association
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr8:61743153
GRCh38:
Chr8:60830594
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided,
CHARGE association
Benign/Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr8:61764777
GRCh38:
Chr8:60852218
CHD7not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Likely benign
(Dec 28, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr8:61742869
GRCh38:
Chr8:60830310
CHD7not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr8:61654822
GRCh38:
Chr8:60742263
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
not provided
Likely benign
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr8:61757601
GRCh38:
Chr8:60845042
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided,
CHARGE association
Likely benign
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr8:61654372
GRCh38:
Chr8:60741813
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
not provided
Likely benign
(Oct 20, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr8:61732608
GRCh38:
Chr8:60820049
CHD7R886Wnot provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Uncertain significance
(Sep 8, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr8:61749400
GRCh38:
Chr8:60836841
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr8:61774787
GRCh38:
Chr8:60862228
CHD7not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association,
CHARGE association
Likely benign
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr8:61732595
GRCh38:
Chr8:60820036
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Likely benign
(Oct 30, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:61777685
GRCh38:
Chr8:60865126
CHD7CHARGE association, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Likely benign
(Oct 30, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr8:61768716
GRCh38:
Chr8:60856157
CHD7not provided, CHARGE association, Inborn genetic diseases,
CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr8:61749568
GRCh38:
Chr8:60837009
CHD7CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
Likely benign
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr8:61754414
GRCh38:
Chr8:60841855
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided,
CHARGE association
Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr8:61693597
GRCh38:
Chr8:60781038
CHD7, LOC126860403Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Likely benign
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr8:61754629
GRCh38:
Chr8:60842070
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Likely benign
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr8:61655617
GRCh38:
Chr8:60743058
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Likely benign
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr8:61775124
GRCh38:
Chr8:60862565
CHD7CHARGE association, not provided, Hypogonadotropic hypogonadism 5 with or without anosmia,
CHARGE association
Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr8:61654503
GRCh38:
Chr8:60741944
CHD7Q171RHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided,
CHARGE association
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr8:61773532
GRCh38:
Chr8:60860973
CHD7P2560SHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr8:61757621
GRCh38:
Chr8:60845062
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr8:61734410
GRCh38:
Chr8:60821851
CHD7R920QCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided,
CHARGE association
Uncertain significance
(Aug 10, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr8:61654510
GRCh38:
Chr8:60741951
CHD7P174fsCHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmiaPathogenic
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr8:61653996
GRCh38:
Chr8:60741437
CHD7A2EHypogonadotropic hypogonadism 5 with or without anosmiaLikely pathogenic
(Nov 8, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr8:61754608
GRCh38:
Chr8:60842049
CHD7Y1616CHypogonadotropic hypogonadism 5 with or without anosmia, CHARGE associationUncertain significance
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr8:61728926
GRCh38:
Chr8:60816367
CHD7Hypogonadotropic hypogonadism 5 with or without anosmiaUncertain significance
(Mar 15, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr8:61736396
GRCh38:
Chr8:60823837
CHD7CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
Uncertain significance
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
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