| - GRCh37:
- Chr20:21117162
- GRCh38:
- Chr20:21136521
| KIZ, LOC130065509 | T95I | Retinitis pigmentosa 69, not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:21143130
- GRCh38:
- Chr20:21162489
| KIZ | P209A, P228A, P239A, P293A, P342A | Retinitis pigmentosa 69, not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:21143779
- GRCh38:
- Chr20:21163138
| KIZ | S311C, S330C, S341C, S395C, S444C | not provided, Retinitis pigmentosa 69 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:21106837-21106859
- GRCh38:
- Chr20:21126196-21126218
| KIZ, LOC130065507 | | Retinitis pigmentosa 69 | Pathogenic
(Oct 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:21213397
- GRCh38:
- Chr20:21232759
| KIZ | | not provided, Retinitis pigmentosa 69 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:21112767-21112770
- GRCh38:
- Chr20:21132126-21132129
| KIZ | K40fs | Retinal dystrophy, not provided | Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:21106808
- GRCh38:
- Chr20:21126167
| LOC130065507, KIZ | E18*, R44L | not provided | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:21117104
- GRCh38:
- Chr20:21136463
| KIZ, LOC130065509 | R76* | KIZ-related condition, Retinal dystrophy, Retinitis pigmentosa 69,
not provided | Pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |