| - GRCh37:
- ChrX:21869715
- GRCh38:
- ChrX:21851597
| MBTPS2 | G176E | Olmsted syndrome, X-linked, IFAP syndrome with or without BRESHECK syndrome, Osteogenesis imperfecta, type 19,
Keratosis follicularis spinulosa decalvans, X-linked | Uncertain significance
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:21869704
- GRCh38:
- ChrX:21851586
| MBTPS2 | E172D | IFAP syndrome with or without BRESHECK syndrome | Uncertain significance
(Feb 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:17720587
- GRCh38:
- Chr17:17817273
| SREBF1 | L530P, L560P, L506P, L386P, L456P, L515P, L521P, L524P, L528P, L543P | IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome 2 | Pathogenic
(Sep 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr17:17720592-17720594
- GRCh38:
- Chr17:17817278-17817280
| SREBF1 | N504del, N528del, N558del, N384del, N454del, N513del, N519del, N522del, N526del, N541del | IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome 2 | Pathogenic
(Sep 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr17:17720597
- GRCh38:
- Chr17:17817283
| SREBF1 | R557C, R527C, R503C, R383C, R453C, R512C, R518C, R521C, R525C, R540C | not provided, Hereditary mucoepithelial dysplasia | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:21900733
- GRCh38:
- ChrX:21882615
| MBTPS2 | A507V | IFAP syndrome with or without BRESHECK syndrome, not provided | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:21861331
- GRCh38:
- ChrX:21843213
| MBTPS2 | N40T | IFAP syndrome with or without BRESHECK syndrome, Inborn genetic diseases | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763195
- GRCh38:
- Chr13:20189056
| GJB2 | N176D | not provided, IFAP syndrome with or without BRESHECK syndrome | Pathogenic/Likely pathogenic
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:21869717
- GRCh38:
- ChrX:21851599
| MBTPS2 | I177L | IFAP syndrome with or without BRESHECK syndrome | Uncertain significance
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:21886576
- GRCh38:
- ChrX:21868458
| MBTPS2 | | IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Mar 1, 2014) | no assertion criteria provided |
| - GRCh37:
- ChrX:21886591
- GRCh38:
- ChrX:21868473
| MBTPS2 | W226L | IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |
| - GRCh37:
- ChrX:21900637
- GRCh38:
- ChrX:21882519
| MBTPS2 | F475S | IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |
| - GRCh37:
- ChrX:21899039
- GRCh38:
- ChrX:21880921
| MBTPS2 | R429H | not provided, IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:21863325
- GRCh38:
- ChrX:21845207
| MBTPS2 | M87I | IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |
| - GRCh37:
- ChrX:21886594
- GRCh38:
- ChrX:21868476
| MBTPS2 | H227L | IFAP syndrome with or without BRESHECK syndrome | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |