| - GRCh37:
- Chr10:103534548
- GRCh38:
- Chr10:101774791
| FGF8 | H53R, H64R, H82R, H93R | Hypogonadotropic hypogonadism 6 with or without anosmia | Uncertain significance
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103531201
- GRCh38:
- Chr10:101771444
| FGF8 | | not provided, Hypogonadotropic hypogonadism 6 with or without anosmia | Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:103534487-103534491
- GRCh38:
- Chr10:101774730-101774734
| FGF8 | | Hypogonadotropic hypogonadism 6 with or without anosmia | Uncertain significance
(Nov 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103534675
- GRCh38:
- Chr10:101774918
| FGF8 | | Hypogonadotropic hypogonadism 6 with or without anosmia | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103531285
- GRCh38:
- Chr10:101771528
| FGF8 | R127*, R116*, R23*, R87*, R98* | not provided | Pathogenic
(Feb 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103530191-103530192
- GRCh38:
- Chr10:101770434-101770435
| FGF8 | H182fs, H107fs, H200fs, H211fs, H171fs | Hypogonadotropic hypogonadism 6 with or without anosmia | Likely pathogenic
(Jun 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103531279
- GRCh38:
- Chr10:101771522
| FGF8 | R129*, R100*, R118*, R25*, R89* | not provided | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103531308
- GRCh38:
- Chr10:101771551
| FGF8 | T119M, T108M, T15M, T90M, T79M | not provided, Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia
| Likely pathogenic
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:103530438
- GRCh38:
- Chr10:101770681
| FGF8 | | not provided, not specified, Hypogonadotropic hypogonadism 6 with or without anosmia
| Benign
(Apr 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:103534589
- GRCh38:
- Chr10:101774832
| FGF8 | | Hypogonadotropic hypogonadism 6 with or without anosmia | Likely pathogenic
(May 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr10:103530370
- GRCh38:
- Chr10:101770613
| FGF8 | G151S, G111S, G122S, G47S, G140S | Hypogonadotropic hypogonadism 6 with or without anosmia | Uncertain significance
(Dec 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:103530135
- GRCh38:
- Chr10:101770378
| FGF8 | T229M, T189M, T200M, T218M, T125M | not provided, Cyclopia | Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:103531285
- GRCh38:
- Chr10:101771528
| FGF8 | R127G, R98G, R116G, R23G, R87G | Hypogonadotropic hypogonadism 6 with or without anosmia | Pathogenic
(Aug 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr10:103534528
- GRCh38:
- Chr10:101774771
| FGF8 | K100E, K60E, K89E, K71E | Hypogonadotropic hypogonadism 6 with or without anosmia | Pathogenic
(Aug 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr10:103534925
- GRCh38:
- Chr10:101775168
| FGF8 | F40L | Hypogonadotropic hypogonadism 6 with or without anosmia | Pathogenic
(Aug 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr10:103534966
- GRCh38:
- Chr10:101775209
| FGF8 | P26L | not specified, not provided, Hypogonadotropic hypogonadism 6 with or without anosmia
| Conflicting interpretations of pathogenicity
(Apr 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:103535526
- GRCh38:
- Chr10:101775769
| FGF8 | H14N | Hypogonadotropic hypogonadism 6 with or without anosmia | Pathogenic
(Aug 1, 2008) | no assertion criteria provided |