| - GRCh37:
- Chr8:61693641
- GRCh38:
- Chr8:60781082
| CHD7, LOC126860403 | S583T | Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (Oct 30, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr8:61769448-61774754
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia | Likely pathogenic (Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61777592
- GRCh38:
- Chr8:60865033
| CHD7 | M2699fs, M650fs | Hypogonadotropic hypogonadism 5 with or without anosmia | Likely pathogenic (Feb 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr8:61778086
- GRCh38:
- Chr8:60865527
| CHD7 | A2863D, A814D | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61693574
- GRCh38:
- Chr8:60781015
| CHD7, LOC126860403 | P561T | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided, CHARGE association | Uncertain significance (Apr 14, 2023) | criteria provided, multiple submitters, no conflicts |
| | CHD7 | E2849fs, E800fs | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Pathogenic (Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61749556
- GRCh38:
- Chr8:60836997
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61736593
- GRCh38:
- Chr8:60824034
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61761597
- GRCh38:
- Chr8:60849038
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61743152
- GRCh38:
- Chr8:60830593
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61707536
- GRCh38:
- Chr8:60794977
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61749590
- GRCh38:
- Chr8:60837031
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61741385
- GRCh38:
- Chr8:60828826
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61767070
- GRCh38:
- Chr8:60854511
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61763889
- GRCh38:
- Chr8:60851330
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Benign/Likely benign (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61749433
- GRCh38:
- Chr8:60836874
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754330
- GRCh38:
- Chr8:60841771
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61734504
- GRCh38:
- Chr8:60821945
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Benign/Likely benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61757453
- GRCh38:
- Chr8:60844894
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61714070
- GRCh38:
- Chr8:60801511
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654477
- GRCh38:
- Chr8:60741918
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- Chr8:60867891-60867903
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (Apr 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61655229
- GRCh38:
- Chr8:60742670
| CHD7 | V413G | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61765916
- GRCh38:
- Chr8:60853357
| CHD7 | A2211D | not provided, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (Feb 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61777692
- GRCh38:
- Chr8:60865133
| CHD7 | A2732T, A683T | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided | Uncertain significance (Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61768607
- GRCh38:
- Chr8:60856048
| CHD7 | R2337H | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61693964
- GRCh38:
- Chr8:60781405
| CHD7, LOC126860403 | K691E | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654539
- GRCh38:
- Chr8:60741980
| CHD7 | P183L | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754290
- GRCh38:
- Chr8:60841731
| CHD7 | D1541N | Inborn genetic diseases, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Conflicting interpretations of pathogenicity (Dec 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61735265
- GRCh38:
- Chr8:60822706
| CHD7 | R1054Q | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Conflicting interpretations of pathogenicity (Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61736495
- GRCh38:
- Chr8:60823936
| CHD7 | R1100C | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654662
- GRCh38:
- Chr8:60742103
| CHD7 | N224S | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61743064
- GRCh38:
- Chr8:60830505
| CHD7 | A1236T | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61778296
- GRCh38:
- Chr8:60865737
| CHD7 | S2933C, S884C | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association, Inborn genetic diseases | Uncertain significance (May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654269
- GRCh38:
- Chr8:60741710
| CHD7 | T93I | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61769037
- GRCh38:
- Chr8:60856478
| CHD7 | R2400W | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61768564
- GRCh38:
- Chr8:60856005
| CHD7 | I2323V | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Conflicting interpretations of pathogenicity (Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61764647
- GRCh38:
- Chr8:60852088
| CHD7 | R1912H | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Conflicting interpretations of pathogenicity (Jan 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61734578
- GRCh38:
- Chr8:60822019
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61773572
- GRCh38:
- Chr8:60861013
| CHD7 | N2573S | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Conflicting interpretations of pathogenicity (Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61693890
- GRCh38:
- Chr8:60781331
| CHD7, LOC126860403 | K666R | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Oct 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654100
- GRCh38:
- Chr8:60741541
| CHD7 | M37V | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided, CHARGE association | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61766928
- GRCh38:
- Chr8:60854369
| CHD7 | A2261V | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654727
- GRCh38:
- Chr8:60742168
| CHD7 | A246P | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61654929
- GRCh38:
- Chr8:60742370
| CHD7 | Y313C | CHARGE association, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61693964
- GRCh38:
- Chr8:60781405
| CHD7, LOC126860403 | K691Q | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Uncertain significance (Nov 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655033
- GRCh38:
- Chr8:60742474
| CHD7 | P348T | Inborn genetic diseases, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61778055
- GRCh38:
- Chr8:60865496
| CHD7 | E2853K, E804K | not 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 |
| - GRCh37:
- Chr8:61707546
- GRCh38:
- Chr8:60794987
| CHD7 | N700D | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61777729
- GRCh38:
- Chr8:60865170
| CHD7 | L2744S, L695S | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association, Inborn genetic diseases | Uncertain significance (May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655568
- GRCh38:
- Chr8:60743009
| CHD7 | Q526R | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Uncertain significance (Mar 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61693860
- GRCh38:
- Chr8:60781301
| CHD7, LOC126860403 | P656L | not specified, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Conflicting interpretations of pathogenicity (Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61735147
- GRCh38:
- Chr8:60822588
| CHD7 | I1015V | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754556
- GRCh38:
- Chr8:60841997
| CHD7 | Q1599E | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided, CHARGE association | Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61655337
- GRCh38:
- Chr8:60742778
| CHD7 | N449S | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
| Uncertain significance (Jul 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61765462
- GRCh38:
- Chr8:60852903
| CHD7 | L2060V | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
| Uncertain significance (Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61764775
- GRCh38:
- Chr8:60852216
| CHD7 | R1955G | not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655436
- GRCh38:
- Chr8:60742877
| CHD7 | G482A | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided
| Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61693600
- GRCh38:
- Chr8:60781041
| CHD7, LOC126860403 | D569E | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Uncertain significance (Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61765453
- GRCh38:
- Chr8:60852894
| CHD7 | R2057C | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754495
- GRCh38:
- Chr8:60841936
| CHD7 | D1578E | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655154
- GRCh38:
- Chr8:60742595
| CHD7 | G388E | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided | Uncertain significance (Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61775107
- GRCh38:
- Chr8:60862548
| CHD7 | M2658V, M609V | not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61778265
- GRCh38:
- Chr8:60865706
| CHD7 | A2923T, A874T | not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association | Uncertain significance (Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655484
- GRCh38:
- Chr8:60742925
| CHD7 | G498D | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61774792
- GRCh38:
- Chr8:60862233
| CHD7 | P2623L, P574L | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Uncertain significance (Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61764746
- GRCh38:
- Chr8:60852187
| CHD7 | R1945Q | CHD7-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 |
| - GRCh37:
- Chr8:61777909
- GRCh38:
- Chr8:60865350
| CHD7 | A2804V, A755V | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided
| Uncertain significance (Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61732627
- GRCh38:
- Chr8:60820068
| CHD7 | R892H | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754481
- GRCh38:
- Chr8:60841922
| CHD7 | M1574L | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61777639
- GRCh38:
- Chr8:60865080
| CHD7 | A2714V, A665V | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided | Conflicting interpretations of pathogenicity (Aug 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61769324
- GRCh38:
- Chr8:60856765
| CHD7 | R2495S | CHARGE 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 |
| - GRCh37:
- Chr8:61736435
- GRCh38:
- Chr8:60823876
| CHD7 | I1080V | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided, CHARGE association | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:61743153
- GRCh38:
- Chr8:60830594
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided, CHARGE association | Benign/Likely benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61764777
- GRCh38:
- Chr8:60852218
| CHD7 | | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Likely benign (Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61742869
- GRCh38:
- Chr8:60830310
| CHD7 | | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654822
- GRCh38:
- Chr8:60742263
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided | Likely benign (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61757601
- GRCh38:
- Chr8:60845042
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided, CHARGE association | Likely benign (Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654372
- GRCh38:
- Chr8:60741813
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided | Likely benign (Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61732608
- GRCh38:
- Chr8:60820049
| CHD7 | R886W | not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Uncertain significance (Sep 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61749400
- GRCh38:
- Chr8:60836841
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61774787
- GRCh38:
- Chr8:60862228
| CHD7 | | not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association | Likely benign (Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61732595
- GRCh38:
- Chr8:60820036
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Likely benign (Oct 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61777685
- GRCh38:
- Chr8:60865126
| CHD7 | | CHARGE association, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Likely benign (Oct 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61768716
- GRCh38:
- Chr8:60856157
| CHD7 | | not 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 |
| - GRCh37:
- Chr8:61749568
- GRCh38:
- Chr8:60837009
| CHD7 | | CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia
| Likely benign (May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754414
- GRCh38:
- Chr8:60841855
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided, CHARGE association | Likely benign (Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61693597
- GRCh38:
- Chr8:60781038
| CHD7, LOC126860403 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Likely benign (May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61754629
- GRCh38:
- Chr8:60842070
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Likely benign (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61655617
- GRCh38:
- Chr8:60743058
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Likely benign (Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61775124
- GRCh38:
- Chr8:60862565
| CHD7 | | CHARGE association, not provided, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Likely benign (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654503
- GRCh38:
- Chr8:60741944
| CHD7 | Q171R | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, not provided, CHARGE association | Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61773532
- GRCh38:
- Chr8:60860973
| CHD7 | P2560S | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61757621
- GRCh38:
- Chr8:60845062
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association, CHARGE association
| Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61734410
- GRCh38:
- Chr8:60821851
| CHD7 | R920Q | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, not provided, CHARGE association | Uncertain significance (Aug 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61654510
- GRCh38:
- Chr8:60741951
| CHD7 | P174fs | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia | Pathogenic (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61653996
- GRCh38:
- Chr8:60741437
| CHD7 | A2E | Hypogonadotropic hypogonadism 5 with or without anosmia | Likely pathogenic (Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61754608
- GRCh38:
- Chr8:60842049
| CHD7 | Y1616C | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association | Uncertain significance (Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:61728926
- GRCh38:
- Chr8:60816367
| CHD7 | | Hypogonadotropic hypogonadism 5 with or without anosmia | Uncertain significance (Mar 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:61736396
- GRCh38:
- Chr8:60823837
| CHD7 | | CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association
| Uncertain significance (Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |