| - GRCh37:
- Chr19:54651901
- GRCh38:
- Chr19:54148166
| CNOT3 | S305T | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(May 16, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr19:54152129-54161358
| CNOT3, LENG1, TMC4 | | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652141-54652142
- GRCh38:
- Chr19:54148406-54148407
| CNOT3 | P390fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54649416
- GRCh38:
- Chr19:54145680
| CNOT3 | M189fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54659092
- GRCh38:
- Chr19:54155354
| CNOT3, LENG1 | K737E | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(Jun 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54647175
- GRCh38:
- Chr19:54143439
| CNOT3 | | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54656213
- GRCh38:
- Chr19:54152476
| CNOT3 | P585L | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Jan 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652073
- GRCh38:
- Chr19:54148338
| CNOT3 | S362N | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652139
- GRCh38:
- Chr19:54148404
| CNOT3 | S384N | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Jun 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652430
- GRCh38:
- Chr19:54148695
| CNOT3 | Q453L | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54647794
- GRCh38:
- Chr19:54144058
| CNOT3 | S104N | not provided, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:54656324
- GRCh38:
- Chr19:54152587
| CNOT3 | W622* | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54657525
- GRCh38:
- Chr19:54153788
| CNOT3 | M704T | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54651931
- GRCh38:
- Chr19:54148196
| CNOT3 | Q315E | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54647468
- GRCh38:
- Chr19:54143732
| CNOT3 | R81S | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:54647229-54647231
- GRCh38:
- Chr19:54143493-54143495
| CNOT3 | K50del | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54647233-54647235
- GRCh38:
- Chr19:54143497-54143499
| CNOT3 | E51del | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54657503
- GRCh38:
- Chr19:54153766
| CNOT3 | R697* | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652229-54652230
- GRCh38:
- Chr19:54148494-54148495
| CNOT3 | S415fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:54652170-54652177
- GRCh38:
- Chr19:54148435-54148442
| CNOT3 | P395fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54649673-54649674
- GRCh38:
- Chr19:54145937-54145938
| CNOT3 | | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54656163
- GRCh38:
- Chr19:54152426
| CNOT3 | | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54656056
- GRCh38:
- Chr19:54152319
| CNOT3 | E567K | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54655963
- GRCh38:
- Chr19:54152226
| CNOT3 | A536P | not provided, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:54651917-54651927
- GRCh38:
- Chr19:54148182-54148192
| CNOT3 | S310fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Sep 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54649413
- GRCh38:
- Chr19:54145677
| CNOT3 | R188H | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(Oct 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54653312
- GRCh38:
- Chr19:54149577
| CNOT3 | A475V | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Jul 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54655993
- GRCh38:
- Chr19:54152256
| CNOT3 | M546V | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, not provided | Uncertain significance
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:54652441
- GRCh38:
- Chr19:54148706
| CNOT3 | P457T | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Uncertain significance
(Jan 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54649370
- GRCh38:
- Chr19:54145634
| CNOT3 | E174K | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(Jun 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54646922
- GRCh38:
- Chr19:54143186
| CNOT3 | | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Likely pathogenic
(May 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54647396
- GRCh38:
- Chr19:54143660
| CNOT3 | R57W | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54657494
- GRCh38:
- Chr19:54153757
| CNOT3 | Q694* | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Nov 27, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:54656625-54656626
- GRCh38:
- Chr19:54152888-54152889
| CNOT3 | C643fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Nov 27, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:54656325
- GRCh38:
- Chr19:54152588
| CNOT3 | W622* | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | Pathogenic
(Nov 27, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:54653361-54653362
- GRCh38:
- Chr19:54149626-54149627
| CNOT3 | G493fs | not provided | Pathogenic
(Jun 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54649671
- GRCh38:
- Chr19:54145930-54145931
| CNOT3 | S245fs | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, not specified | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:162280263-162280264
- GRCh38:
- Chr2:161423752-161423753
| LOC129935026, TBR1 | T532fs | Severe global developmental delay, Focal cortical dysplasia, Delayed fine motor development,
Gait ataxia, Seizure, Intellectual developmental disorder with speech delay, autism, and dysmorphic facies,
Autistic behavior, Severe global developmental delay, Delayed fine motor development,
Autistic behavior, Abnormal brainstem MRI signal intensitySevere global developmental delay,
Delayed fine motor development, Gait ataxia, Hypoplasia of the frontal lobes,
Moderate global developmental delay, Autistic behavior, Severe global developmental delay,
Autistic behavior, Severe global developmental delay, Inborn genetic diseases,
not provided, Autism, susceptibility to, 5, ...see more | Pathogenic/Likely pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |