| - GRCh37:
- Chr18:28923881
- GRCh38:
- Chr18:31343918
| DSG1, DSG1-AS1 | | Severe dermatitis-multiple allergies-metabolic wasting syndrome | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28919916
- GRCh38:
- Chr18:31339953
| DSG1 | L539V | not provided, Severe dermatitis-multiple allergies-metabolic wasting syndrome, Palmoplantar keratoderma i, striate, focal, or diffuse
| Benign/Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28935292
- GRCh38:
- Chr18:31355329
| DSG1, DSG1-AS1 | V1045M | not provided, Palmoplantar keratoderma i, striate, focal, or diffuse, Severe dermatitis-multiple allergies-metabolic wasting syndrome,
Inborn genetic diseases | Uncertain significance
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28934818
- GRCh38:
- Chr18:31354855
| DSG1, DSG1-AS1 | R887* | Severe dermatitis-multiple allergies-metabolic wasting syndrome, not provided | Pathogenic/Likely pathogenic
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28934375
- GRCh38:
- Chr18:31354412
| DSG1, DSG1-AS1, LOC126862720 | I739T | Palmoplantar keratoderma i, striate, focal, or diffuse, Severe dermatitis-multiple allergies-metabolic wasting syndrome, not provided
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28934781
- GRCh38:
- Chr18:31354818
| DSG1, DSG1-AS1, LOC126862720 | | not provided, Severe dermatitis-multiple allergies-metabolic wasting syndrome, Palmoplantar keratoderma i, striate, focal, or diffuse
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28934681
- GRCh38:
- Chr18:31354718
| DSG1, DSG1-AS1, LOC126862720 | Y841F | not provided, Severe dermatitis-multiple allergies-metabolic wasting syndrome, not specified,
Palmoplantar keratoderma i, striate, focal, or diffuse | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28913599
- GRCh38:
- Chr18:31333636
| DSG1 | | Palmoplantar keratoderma i, striate, focal, or diffuse, not provided, Severe dermatitis-multiple allergies-metabolic wasting syndrome,
not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28898294
- GRCh38:
- Chr18:31318331
| DSG1 | M11V | Severe dermatitis-multiple allergies-metabolic wasting syndrome, not specified, Palmoplantar keratoderma i, striate, focal, or diffuse,
not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28923928
- GRCh38:
- Chr18:31343965
| DSG1, DSG1-AS1 | A621fs | Severe dermatitis-multiple allergies-metabolic wasting syndrome | Pathogenic
(Oct 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr18:28906543
- GRCh38:
- Chr18:31326580
| DSG1 | | Severe dermatitis-multiple allergies-metabolic wasting syndrome | Pathogenic
(Oct 1, 2013) | no assertion criteria provided |