| - GRCh37:
- Chr19:42754514
- GRCh38:
- Chr19:42250362
| ERF | M1V, M76V | Lambdoidal craniosynostosis | Uncertain significance
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42753866
- GRCh38:
- Chr19:42249714
| ERF | P133L, P58L | Chitayat syndrome, Lambdoidal craniosynostosis, TWIST1-related craniosynostosis
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42753971
- GRCh38:
- Chr19:42249819
| ERF | | Chitayat syndrome, Lambdoidal craniosynostosis | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42753325
- GRCh38:
- Chr19:42249173
| ERF | Y238*, Y313* | Chitayat syndrome, Lambdoidal craniosynostosis | Likely pathogenic
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42759128
- GRCh38:
- Chr19:42254976
| ERF | | Lambdoidal craniosynostosis | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:42753742-42753743
- GRCh38:
- Chr19:42249590-42249591
| ERF | A100fs, A175fs | Lambdoidal craniosynostosis | Likely pathogenic
(Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42754699
- GRCh38:
- Chr19:42250547
| ERF | W14* | Lambdoidal craniosynostosis | Likely pathogenic
(Aug 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42753234
- GRCh38:
- Chr19:42249082
| ERF | R269G, R344G | Lambdoidal craniosynostosis | Uncertain significance
(Nov 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42753215
- GRCh38:
- Chr19:42249063
| ERF | L275fs, L350fs | Lambdoidal craniosynostosis | Likely pathogenic
(Jun 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42754066
- GRCh38:
- Chr19:42249914
| ERF | K96*, K21* | Lambdoidal craniosynostosis | Likely pathogenic
(Dec 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr19:42753697-42753698
- GRCh38:
- Chr19:42249545-42249546
| ERF | | TWIST1-related craniosynostosis, Lambdoidal craniosynostosis | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42754493
- GRCh38:
- Chr19:42250341
| ERF | R83W, R8W | not specified, Lambdoidal craniosynostosis, not provided
| Conflicting interpretations of pathogenicity
(Nov 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42753062-42753063
- GRCh38:
- Chr19:42248910-42248911
| ERF | K326fs, K401fs | Neurodevelopmental disorder, ERF-Related Disorders, not provided,
TWIST1-related craniosynostosis, Chitayat syndrome, Lambdoidal craniosynostosis
| Pathogenic/Likely pathogenic
(Jul 11, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Lambdoidal craniosynostosis, Abnormal facial skeleton morphology, Mild conductive hearing impairment,
Torticollis, Attention deficit hyperactivity disorder, Specific learning disability,
Triangular face, Exotropia, High palate,
Plagiocephaly, Atypical behavior ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42759151
- GRCh38:
- Chr19:42254999
| ERF | M1V | Lambdoidal craniosynostosis | Pathogenic
(Nov 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr19:42754719
- GRCh38:
- Chr19:42250567
| ERF | | Lambdoidal craniosynostosis | Pathogenic
(Nov 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr14:23889113
- GRCh38:
- Chr14:23419904
| MYH7 | E1223K | Cardiovascular phenotype, not provided, Cardiomyopathy,
Primary dilated cardiomyopathy, Delayed gross motor development, Muscular ventricular septal defect,
Epicanthus, Delayed speech and language development, Sagittal craniosynostosis,
Lambdoidal craniosynostosis, Hypertrophic cardiomyopathy ...see more | Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42752994
- GRCh38:
- Chr19:42248842
| ERF | Q424*, Q349* | Lambdoidal craniosynostosis | Pathogenic
(Mar 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr19:42754546
- GRCh38:
- Chr19:42250394
| ERF | R65Q | not provided | Conflicting interpretations of pathogenicity
(Jul 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42754484
- GRCh38:
- Chr19:42250332
| ERF | R86C, R11C | Lambdoidal craniosynostosis, ERF-related condition, not provided,
TWIST1-related craniosynostosis | Pathogenic
(Oct 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42753372-42753373
- GRCh38:
- Chr19:42249220-42249221
| ERF | G299fs, G224fs | Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, Inborn genetic diseases,
not provided, See cases | Pathogenic/Likely pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42753717
- GRCh38:
- Chr19:42249565
| ERF | R183*, R108* | TWIST1-related craniosynostosis, Chitayat syndrome, Lambdoidal craniosynostosis
| Pathogenic
(Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |