| - GRCh37:
- Chr9:117853848-124633077
| ASTN2, BRINP1, C5, CDK5RAP2, CNTRL, DAB2IP, DELEC1, FBXW2, GSN, MEGF9, PAPPA, PAPPA-AS1, PHF19, PSMD5, RAB14, STOM, TLR4, TNC, TRAF1, TRIM32, TTLL11 | | Intellectual disability, borderline, Facial hypotonia, Hyperlipoproteinemia,
Delayed speech and language development, Mild microcephaly, Oral motor hypotonia
| Uncertain significance
(Oct 16, 2020) | criteria provided, single submitter |
| | NRXN1 | | Autism, Hyperopia, high, Mild microcephaly,
Intellectual disability, mild, Moderate global developmental delay | Pathogenic
(Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89862193
- GRCh38:
- Chr15:89318962
| POLG, POLGARF | R1081Q | Global developmental delay, Mild microcephaly, Epileptic encephalopathy,
Infantile spasms, Secondary microcephaly, Cerebral visual impairment,
Visual impairment, Plagiocephaly, Hypsarrhythmia,
Posterior plagiocephaly, Generalized hypotoniaProgressive sclerosing poliodystrophy,
Inborn genetic diseases, not provided, ...see more | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166850674
- GRCh38:
- Chr2:165994164
| LOC102724058, SCN1A | V1601I, V1612I, V1583I, V798I, V1584I, V1600I | Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts, Severe myoclonic epilepsy in infancy,
Secondary microcephaly, Hypsarrhythmia, Generalized hypotonia,
Cerebral visual impairment, Global developmental delay, Plagiocephaly,
Epileptic encephalopathy, Visual impairmentMild microcephaly,
Infantile spasms, Posterior plagiocephaly, ...see more | Conflicting interpretations of pathogenicity
(Oct 10, 2021) | criteria provided, conflicting interpretations |