| - GRCh37:
- Chr7:116199130
- GRCh38:
- Chr7:116559076
| CAV1 | I109N, I78N | Pulmonary hypertension, primary, 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:116199040
- GRCh38:
- Chr7:116558986
| CAV1 | H48R, H79R | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:116199167-116199168
- GRCh38:
- Chr7:116559113-116559114
| CAV1 | S123fs, S92fs | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:116199198
- GRCh38:
- Chr7:116559144
| CAV1 | P101A, P132A | not provided, Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,
Pulmonary hypertension, primary, 3 | Uncertain significance
(Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116166593
- GRCh38:
- Chr7:116526539
| CAV1 | | Inborn genetic diseases, Pulmonary hypertension, primary, 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,
Congenital generalized lipodystrophy type 3, Pulmonary hypertension, primary, 3 | Likely benign
(Apr 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116165166
- GRCh38:
- Chr7:116525112
| CAV1 | | Pulmonary hypertension, primary, 3, not provided, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,
Congenital generalized lipodystrophy type 3, Pulmonary hypertension, primary, 3 | Benign
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199241
- GRCh38:
- Chr7:116559187
| CAV1 | R115P, R146P | Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Pulmonary hypertension, primary, 3,
Pulmonary hypertension, primary, 3 | Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199106
- GRCh38:
- Chr7:116559052
| CAV1 | R70H, R101H | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Pulmonary hypertension, primary, 3, Congenital generalized lipodystrophy type 3,
Pulmonary hypertension, primary, 3 | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199006
- GRCh38:
- Chr7:116558952
| CAV1 | F68V, F37V | Inborn genetic diseases, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Congenital generalized lipodystrophy type 3,
Pulmonary hypertension, primary, 3, Pulmonary hypertension, primary, 3 | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199161
- GRCh38:
- Chr7:116559107
| CAV1 | | Inborn genetic diseases, Pulmonary hypertension, primary, 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,
Congenital generalized lipodystrophy type 3, Pulmonary hypertension, primary, 3 | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116166677
- GRCh38:
- Chr7:116526623
| CAV1 | | Pulmonary hypertension, primary, 3, Inborn genetic diseases, Pulmonary hypertension, primary, 3,
Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Benign/Likely benign
(Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116165360
- GRCh38:
- Chr7:116525306
| CAV1 | | Pulmonary hypertension, primary, 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, not provided,
Congenital generalized lipodystrophy type 3 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199316
- GRCh38:
- Chr7:116559262
| CAV1 | R140H, R171H | Pulmonary hypertension, primary, 3, Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,
Pulmonary hypertension, primary, 3 | Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199050
- GRCh38:
- Chr7:116558996
| CAV1 | | Inborn genetic diseases, Pulmonary hypertension, primary, 3, not provided,
Pulmonary hypertension, primary, 3, Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:116199228
- GRCh38:
- Chr7:116559174
| CAV1 | Q142*, Q111* | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Congenital generalized lipodystrophy type 3 | Pathogenic
(Aug 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr7:116199282-116199283
- GRCh38:
- Chr7:116559228-116559229
| CAV1 | | Inborn genetic diseases | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:116199204
- GRCh38:
- Chr7:116559150
| CAV1 | I103fs, I134fs | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Pathogenic
(Jan 31, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr7:116166660
- GRCh38:
- Chr7:116526606
| CAV1 | E38*, E7* | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |