| - GRCh37:
- Chr11:77054921
- GRCh38:
- Chr11:77343876
| PAK1 | N231S, N321S, N216S, N218S, N314S, N311S | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:135102342
- GRCh38:
- Chr9:132226955
| NTNG2 | N322H | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Uncertain significance
(Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135114494
- GRCh38:
- Chr9:132239107
| NTNG2 | C353Y | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135105964
- GRCh38:
- Chr9:132230577
| NTNG2 | T346A | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Benign
(Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135102254
- GRCh38:
- Chr9:132226867
| NTNG2 | | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, not provided | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135073877
- GRCh38:
- Chr9:132198490
| NTNG2 | | not provided, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135117330
- GRCh38:
- Chr9:132241943
| NTNG2 | C475W | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Uncertain significance
(Jan 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135102223
- GRCh38:
- Chr9:132226836
| NTNG2 | | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | Conflicting interpretations of pathogenicity
(Jan 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:135073585
- GRCh38:
- Chr9:132198198
| NTNG2 | M149T | Neurodevelopmental disorder with hypotonia, seizures, and absent language | Uncertain significance
(May 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135073381
- GRCh38:
- Chr9:132197994
| NTNG2 | C81Y | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, Neurodevelopmental disorder | Pathogenic/Likely pathogenic
(Dec 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:135114501
- GRCh38:
- Chr9:132239114
| NTNG2 | C355W | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, Neurodevelopmental disorder | Pathogenic/Likely pathogenic
(Dec 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:135073458
- GRCh38:
- Chr9:132198071
| NTNG2 | W107G | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, Neurodevelopmental disorder | Pathogenic/Likely pathogenic
(Dec 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:135117272
- GRCh38:
- Chr9:132241885
| NTNG2 | C456Y | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, Neurodevelopmental disorder | Pathogenic/Likely pathogenic
(Dec 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:135073512-135073513
- GRCh38:
- Chr9:132198125-132198126
| NTNG2 | S126fs | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, Stereotypical hand wringing, Areflexia,
Generalized hypotonia, Global developmental delay | Pathogenic
(Dec 23, 2019) | no assertion criteria provided |