| - GRCh37:
- ChrX:43809140
- GRCh38:
- ChrX:43949894
| NDP, NDP-AS1 | L103V | Atrophia bulborum hereditaria | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43809222-43809223
- GRCh38:
- ChrX:43949976-43949977
| NDP, NDP-AS1 | E76fs | Atrophia bulborum hereditaria | Pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43817760-43817761
- GRCh38:
- ChrX:43958514-43958515
| NDP, NDP-AS1 | Y44fs | Atrophia bulborum hereditaria | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43817889
- GRCh38:
- ChrX:43958643
| NDP-AS1, NDP | M1I | not provided, Atrophia bulborum hereditaria | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:43809205
- GRCh38:
- ChrX:43949959
| NDP, NDP-AS1 | F81S | Atrophia bulborum hereditaria | Likely pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43817834
- GRCh38:
- ChrX:43958588
| NDP, NDP-AS1 | G20* | Atrophia bulborum hereditaria | Pathogenic
(Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43809092
- GRCh38:
- ChrX:43949846
| NDP, NDP-AS1 | T119P | Atrophia bulborum hereditaria | Likely pathogenic
(May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43809178
- GRCh38:
- ChrX:43949932
| NDP, NDP-AS1 | R90H | not provided, Hearing impairment | Conflicting interpretations of pathogenicity
(Feb 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:43809179
- GRCh38:
- ChrX:43949933
| NDP, NDP-AS1 | R90C | Atrophia bulborum hereditaria | Likely pathogenic
(May 16, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817737
- GRCh38:
- ChrX:43958491
| NDP, NDP-AS1 | L52* | not provided, Atrophia bulborum hereditaria | Pathogenic/Likely pathogenic
(May 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:120446673
- GRCh38:
- Chr7:120806619
| TSPAN12 | C181F | Exudative vitreoretinopathy 5, Persistent hyperplastic primary vitreous, autosomal recessive, Atrophia bulborum hereditaria
| Pathogenic
(May 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:86663485
- GRCh38:
- Chr11:86952443
| FZD4, PRSS23 | M105V | Retinal dystrophy, not provided, Familial exudative vitreoretinopathy,
Exudative vitreoretinopathy 1, Atrophia bulborum hereditaria | Pathogenic
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43809227
- GRCh38:
- ChrX:43949981
| NDP-AS1, NDP | R74C | Atrophia bulborum hereditaria, not provided | Pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43817783
- GRCh38:
- ChrX:43958537
| NDP, NDP-AS1 | R37* | not provided, Atrophia bulborum hereditaria | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43809145
- GRCh38:
- ChrX:43949899
| NDP-AS1, NDP | S101F | Atrophia bulborum hereditaria | Pathogenic
(Jan 1, 1997) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809229
- GRCh38:
- ChrX:43949983
| NDP, NDP-AS1 | S73* | Atrophia bulborum hereditaria | Pathogenic
(Jan 1, 1997) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817758
- GRCh38:
- ChrX:43958512
| NDP-AS1, NDP | V45E | Atrophia bulborum hereditaria | Pathogenic
(May 1, 2007) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809159
- GRCh38:
- ChrX:43949913
| NDP-AS1, NDP | C96W | Atrophia bulborum hereditaria | Pathogenic
(Oct 1, 1999) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809134
- GRCh38:
- ChrX:43949888
| NDP, NDP-AS1 | A105T | Atrophia bulborum hereditaria | Pathogenic
(Oct 17, 1997) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817789
- GRCh38:
- ChrX:43958543
| NDP-AS1, NDP | D35fs | Atrophia bulborum hereditaria | Pathogenic
(Sep 1, 1996) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809266
- GRCh38:
- ChrX:43950020
| NDP, NDP-AS1 | L61F | Atrophia bulborum hereditaria | Pathogenic
(Jan 1, 1997) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817854
- GRCh38:
- ChrX:43958608
| NDP, NDP-AS1 | L13R | Atrophia bulborum hereditaria | Pathogenic
(Apr 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817891
- GRCh38:
- ChrX:43958645
| NDP, NDP-AS1 | M1V | not provided, Atrophia bulborum hereditaria | Pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43809063
- GRCh38:
- ChrX:43949817
| NDP, NDP-AS1 | C128* | not provided | Pathogenic
(Jul 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43809241
- GRCh38:
- ChrX:43949995
| NDP-AS1, NDP | C69S | Atrophia bulborum hereditaria | Pathogenic
(Oct 1, 1993) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809160
- GRCh38:
- ChrX:43949914
| NDP, NDP-AS1 | C96Y | Atrophia bulborum hereditaria | Pathogenic
(Oct 1, 1992) | no assertion criteria provided |
| - GRCh37:
- ChrX:43817761
- GRCh38:
- ChrX:43958515
| NDP, NDP-AS1 | Y44C | not provided | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:43809268
- GRCh38:
- ChrX:43950022
| NDP-AS1, NDP | V60E | Atrophia bulborum hereditaria | Pathogenic
(Oct 1, 1992) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809223
- GRCh38:
- ChrX:43949977
| NDP-AS1, NDP | S75C | Atrophia bulborum hereditaria | Pathogenic
(Oct 1, 1992) | no assertion criteria provided |
| - GRCh37:
- ChrX:43809178
- GRCh38:
- ChrX:43949932
| NDP, NDP-AS1 | R90P | not provided | Uncertain significance
(Jul 2, 2020) | criteria provided, single submitter |