| - GRCh37:
- Chr17:15890605
- GRCh38:
- Chr17:15987291
| ZSWIM7 | S59L | Infertility | Likely pathogenic
(Aug 2, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:117199648
- Chr7:117282526
- GRCh38:
- Chr7:117559594
- Chr7:117642472
| CFTR, CFTR-AS1, CFTR | F508C, S1251N | Cystic fibrosis | Pathogenic
(Jan 10, 2020) | reviewed by expert panel |
| - GRCh37:
- Chr16:57503978
- GRCh38:
- Chr16:57470066
| POLR2C | V182A | Infertility, Deafness | Uncertain significance
(Apr 11, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr8:133673857
- GRCh38:
- Chr8:132661611
| DNAAF11 | I9M | Primary ciliary dyskinesia 19 | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:13820533
- GRCh38:
- Chr5:13820424
| DNAH5 | R2255* | not provided, Primary ciliary dyskinesia 3, Ciliary dyskinesia
| Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:21603929
- GRCh38:
- Chr7:21564311
| DNAH11 | L370M | Ciliary dyskinesia | Benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43928340
- GRCh38:
- Chr15:43636142
| CATSPER2 | W307S, W313S | not provided | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:38271150
- GRCh38:
- Chr8:38413632
| FGFR1 | R822H, R731H, R733H, R812H, R729H, R820H, R853H | Hypogonadotropic hypogonadism 2 with or without anosmia, Jackson-Weiss syndrome, Hartsfield-Bixler-Demyer syndrome,
Pfeiffer syndrome, Encephalocraniocutaneous lipomatosis, Osteoglophonic dysplasia,
Trigonocephaly 1, Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia,
Trigonocephaly 1, Craniosynostosis syndromenot provided,
...see more | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:13841872
- GRCh38:
- Chr5:13841763
| DNAH5 | R1805C | Primary ciliary dyskinesia 3, Ciliary dyskinesia, Inborn genetic diseases,
not provided | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:13721137
- GRCh38:
- Chr5:13721028
| DNAH5 | R4084Q | Primary ciliary dyskinesia 3, Ciliary dyskinesia | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117243828
- GRCh38:
- Chr7:117603774
| CFTR | L967S | Hereditary pancreatitis, not specified, not provided,
CFTR-related disorders, Cystic fibrosis | Conflicting interpretations of pathogenicity
(Sep 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34517412
- GRCh38:
- Chr9:34517414
| DNAI1 | R650C, R654C | Ciliary dyskinesia, Kartagener syndrome | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:57406650
- GRCh38:
- Chr12:57012866
| TAC3 | H83R | not provided, Delayed puberty | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:92149333
- GRCh38:
- Chr1:91683776
| TGFBR3 | T839M, T840M | Inborn genetic diseases | Uncertain significance
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117171037
- GRCh38:
- Chr7:117530983
| CFTR | A120T | not specified, Cystic fibrosis, not provided
| Conflicting interpretations of pathogenicity
(Oct 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117254708
- GRCh38:
- Chr7:117614654
| CFTR | M1137V | not provided, not specified, Cystic fibrosis
| Conflicting interpretations of pathogenicity
(Jun 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:76608128
- GRCh38:
- Chr6:75898411
| MYO6 | R1059T, R1068T | Male infertility, Infertility, not provided,
not specified, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37,
Hearing impairment | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:42979917
- GRCh38:
- Chr17:44902549
| CCDC103 | H154P | CCDC103-related condition, not provided, Primary ciliary dyskinesia 17,
Ciliary dyskinesia | Conflicting interpretations of pathogenicity
(May 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:180379648
- GRCh38:
- Chr3:180661860
| CCDC39 | | not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 14
| Pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:68619737
- GRCh38:
- Chr4:67754019
| GNRHR | Q106R | GNRHR-related condition, Isolated congenital hypogonadotropic hypogonadism, not provided,
Gonadotropin deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia | Pathogenic/Likely pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117250575
- GRCh38:
- Chr7:117610521
| CFTR, LOC111674472 | L997F | CFTR-related disorders, not provided, not specified,
Hereditary pancreatitis, Cystic fibrosis, Obstructive azoospermia
| Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117199648
- GRCh38:
- Chr7:117559594
| CFTR, CFTR-AS1 | F508C | CFTR-related disorders, not specified, not provided,
Hereditary pancreatitis, Cystic fibrosis, Obstructive azoospermia
| Conflicting interpretations of pathogenicity
(May 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:5283323
- GRCh38:
- Chr20:5302677
| PROKR2 | L173R | not specified, not provided, Hypogonadotropic hypogonadism 3 with or without anosmia
| Conflicting interpretations of pathogenicity
(Jun 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:5964776
- GRCh38:
- Chr1:5904716
| NPHP4 | R682*, R169*, R170* | Nephronophthisis | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |