| - GRCh37:
- Chr7:128850951
- GRCh38:
- Chr7:129211110
| SMO | V600M | Hamartoma of hypothalamus | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:129880759
- GRCh38:
- Chr4:128959604
| SCLT1 | S348fs | Hamartoma of hypothalamus, Astigmatism, Nystagmus,
Global developmental delay, Hypermetropia, Opsoclonus
| Pathogenic
(Aug 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:129805638-129805639
- GRCh38:
- Chr4:128884483-128884484
| SCLT1 | N687fs | Hamartoma of hypothalamus, Astigmatism, Nystagmus,
Global developmental delay, Hypermetropia, Opsoclonus
| Likely pathogenic
(Aug 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128850945
- GRCh38:
- Chr7:129211104
| SMO | G598R | Hamartoma of hypothalamus | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128846469
- GRCh38:
- Chr7:129206628
| SMO | | not provided, Hamartoma of hypothalamus | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128845018
- GRCh38:
- Chr7:129205177
| SMO | | not provided, Hamartoma of hypothalamus | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128845277
- GRCh38:
- Chr7:129205436
| SMO | | Hamartoma of hypothalamus, not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128846362
- GRCh38:
- Chr7:129206521
| SMO | R400C | Hamartoma of hypothalamus | Likely pathogenic
(Oct 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128845457
- GRCh38:
- Chr7:129205616
| SMO | F252L | Hamartoma of hypothalamus | Likely pathogenic
(Oct 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128848620
- GRCh38:
- Chr7:129208779
| SMO | I429F | Hamartoma of hypothalamus | Pathogenic
(Aug 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:128850879
- GRCh38:
- Chr7:129211038
| SMO | R576W | Hamartoma of hypothalamus | Pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128850880
- GRCh38:
- Chr7:129211039
| SMO | R576Q | Hamartoma of hypothalamus | Pathogenic
(Aug 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:128848674
- GRCh38:
- Chr7:129208833
| SMO | E447* | Hamartoma of hypothalamus | Pathogenic
(Aug 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:128845484
- GRCh38:
- Chr7:129205643
| SMO | R261C | Hamartoma of hypothalamus | Pathogenic
(Aug 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:128852219-128852220
- GRCh38:
- Chr7:129212378-129212379
| SMO | Q764fs | Hamartoma of hypothalamus | Pathogenic
(Aug 10, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:128845127
- GRCh38:
- Chr7:129205286
| SMO | | Curry-Jones syndrome, Basal cell carcinoma, susceptibility to, 1, Hamartoma of hypothalamus,
not provided | Benign/Likely benign
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:42005387
- GRCh38:
- Chr7:41965789
| GLI3 | D1095G | not specified, Hamartoma of hypothalamus, Greig cephalopolysyndactyly syndrome,
Polysyndactyly 4, Pallister-Hall syndrome, Polydactyly, postaxial, type A1
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128846328
- GRCh38:
- Chr7:129206487
| SMO | | not specified, not provided, Hamartoma of hypothalamus
| Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:42005553
- GRCh38:
- Chr7:41965955
| GLI3 | E1040K | Polydactyly, not provided, Polysyndactyly 4,
Hamartoma of hypothalamus, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome,
Polydactyly, postaxial, type A1, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:42187951
- GRCh38:
- Chr7:42148352
| GLI3 | E81K | Polydactyly, not provided, Polysyndactyly 4,
Hamartoma of hypothalamus, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome,
Polydactyly, postaxial, type A1, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
| Conflicting interpretations of pathogenicity
(Oct 31, 2018) | criteria provided, conflicting interpretations |