| - GRCh37:
- Chr7:23183493
- GRCh38:
- Chr7:23143874
| KLHL7 | W166C, W214C | PERCHING syndrome | Pathogenic
(Mar 28, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:23205324
- GRCh38:
- Chr7:23165705
| KLHL7 | S267fs, S315fs | PERCHING syndrome | Likely pathogenic
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23191707
- GRCh38:
- Chr7:23152088
| KLHL7 | L224P, L272P | PERCHING syndrome | Likely pathogenic
(Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23163503
- GRCh38:
- Chr7:23123884
| KLHL7 | | PERCHING syndrome | Likely pathogenic
(Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23205494
- GRCh38:
- Chr7:23165875
| KLHL7 | R324*, R372* | PERCHING syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:23191699
- GRCh38:
- Chr7:23152080
| KLHL7 | Y269*, Y221* | PERCHING syndrome | Pathogenic
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23180510
- GRCh38:
- Chr7:23140891
| KLHL7 | R141*, R189* | not provided, Inborn genetic diseases | Pathogenic
(Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:23205431
- GRCh38:
- Chr7:23165812
| KLHL7 | R351*, R303* | not provided, PERCHING syndrome, Neurodevelopmental delay
| Pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:23195556-23195560
- GRCh38:
- Chr7:23155937-23155941
| KLHL7 | | PERCHING syndrome | Benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23157582
- GRCh38:
- Chr7:23117963
| KLHL7 | | PERCHING syndrome | Benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23180564
- GRCh38:
- Chr7:23140945
| KLHL7 | | Ulnar deviation of the wrist, Distal arthrogryposis | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23183649
- GRCh38:
- Chr7:23144030
| KLHL7 | | PERCHING syndrome, not specified, not provided,
Retinitis pigmentosa 42 | Conflicting interpretations of pathogenicity
(Jul 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:23163452-23163454
- GRCh38:
- Chr7:23123833-23123835
| KLHL7 | V61del, V13del | PERCHING syndrome | Conflicting interpretations of pathogenicity
(Jan 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:23164701
- GRCh38:
- Chr7:23125082
| KLHL7 | | PERCHING syndrome, not provided, Retinitis pigmentosa
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:23205356
- GRCh38:
- Chr7:23165737
| KLHL7 | R326*, R278* | PERCHING syndrome, PERCHING syndrome, Bohring-Opitz-like syndrome,
not provided | Pathogenic/Likely pathogenic
(Sep 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:23205495
- GRCh38:
- Chr7:23165876
| KLHL7 | R372Q, R324Q | PERCHING syndrome, Cold-induced sweating syndrome 1 | Pathogenic
(Jan 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:23205399
- GRCh38:
- Chr7:23165780
| KLHL7 | L293fs, L341fs | PERCHING syndrome, Cold-induced sweating syndrome 1 | Pathogenic
(Jan 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:23207535
- GRCh38:
- Chr7:23167916
| KLHL7 | R420C, R372C | not provided | Likely pathogenic
(Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:23207538
- GRCh38:
- Chr7:23167919
| KLHL7 | C421S, C373S | PERCHING syndrome, Cold-induced sweating syndrome 1 | Pathogenic
(Jan 9, 2020) | no assertion criteria provided |