| - GRCh37:
- Chr7:155595750-155595773
- GRCh38:
- Chr7:155803056-155803079
| SHH | | Holoprosencephaly 3 | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:155595805
- GRCh38:
- Chr7:155803111
| SHH | A393G | not provided, Holoprosencephaly 3, Holoprosencephaly 3,
Solitary median maxillary central incisor, Microphthalmia, isolated, with coloboma 5, Schizencephaly
| Uncertain significance
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:155595881
- GRCh38:
- Chr7:155803187
| SHH | E368* | Microphthalmia, isolated, with coloboma 5 | Likely pathogenic
(Jan 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr7:155604500
- GRCh38:
- Chr7:155811806
| SHH | | Holoprosencephaly 3, not provided, not specified,
Microphthalmia, isolated, with coloboma 5, Solitary median maxillary central incisor, Schizencephaly,
Holoprosencephaly 3 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:155599300
- GRCh38:
- Chr7:155806606
| SHH | | Microphthalmia, isolated, with coloboma 5, not specified, Holoprosencephaly 3,
Solitary median maxillary central incisor, not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:155596114
- GRCh38:
- Chr7:155803420
| SHH | G290D | not specified, not provided, Microphthalmia, isolated, with coloboma 5,
Schizencephaly, Holoprosencephaly 3, Solitary median maxillary central incisor,
Holoprosencephaly 3 | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:155595836
- GRCh38:
- Chr7:155803142
| SHH | A383T | not provided, Schizencephaly, Microphthalmia, isolated, with coloboma 5,
Holoprosencephaly 3, Solitary median maxillary central incisor | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |