| - GRCh37:
- Chr17:61995101
- GRCh38:
- Chr17:63917741
| GH-LCR, GH1 | | not provided, Short stature due to growth hormone qualitative anomaly, Isolated growth hormone deficiency type IB,
Ateleiotic dwarfism, Autosomal dominant isolated somatotropin deficiency | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61996140
- GRCh38:
- Chr17:63918780
| GH-LCR, GH1 | | Ateleiotic dwarfism, Autosomal dominant isolated somatotropin deficiency, Short stature due to growth hormone qualitative anomaly,
Isolated growth hormone deficiency type IB, Decreased response to growth hormone stimulation test, not provided
| Benign/Likely benign
(Oct 15, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61996130
- GRCh38:
- Chr17:63918770
| GH-LCR, GH1 | T3A | Ateleiotic dwarfism, Autosomal dominant isolated somatotropin deficiency, Short stature due to growth hormone qualitative anomaly,
Isolated growth hormone deficiency type IB, not specified, not provided,
Decreased response to growth hormone stimulation test | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61995761
- GRCh38:
- Chr17:63918401
| GH-LCR, GH1 | A39V | Ateleiotic dwarfism, Autosomal dominant isolated somatotropin deficiency, Short stature due to growth hormone qualitative anomaly,
Isolated growth hormone deficiency type IB, not specified, not provided,
Decreased response to growth hormone stimulation test | Benign/Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61995432
- GRCh38:
- Chr17:63918072
| GH-LCR, GH1 | C64S, C79S | Short stature due to growth hormone qualitative anomaly | Pathogenic
(May 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr17:61995163
- GRCh38:
- Chr17:63917803
| GH-LCR, GH1 | D123G, D138G, D98G | Short stature due to growth hormone qualitative anomaly | Pathogenic
(Sep 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr17:61995376
- GRCh38:
- Chr17:63918016
| GH-LCR, GH1 | | Isolated growth hormone deficiency type IB, Short stature due to growth hormone qualitative anomaly, Ateleiotic dwarfism,
Autosomal dominant isolated somatotropin deficiency, not provided, Autosomal dominant isolated somatotropin deficiency
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:61995269
- GRCh38:
- Chr17:63917909
| GH-LCR, GH1 | R103C, R63C, R88C | Short stature due to growth hormone qualitative anomaly | Pathogenic
(Aug 1, 2007) | no assertion criteria provided |