| - GRCh37:
- Chr12:125441618
- GRCh38:
- Chr12:124957072
| DHX37 | L741M | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Uncertain significance
(Jan 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125453418
- GRCh38:
- Chr12:124968872
| DHX37 | I430F | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Uncertain significance
(Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125450243
- GRCh38:
- Chr12:124965697
| DHX37 | L569Q | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Uncertain significance
(Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125434606
- GRCh38:
- Chr12:124950060
| DHX37 | | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Likely pathogenic
(Mar 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125467158
- GRCh38:
- Chr12:124982612
| DHX37 | M96I | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125465023
- GRCh38:
- Chr12:124980477
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125453232
- GRCh38:
- Chr12:124968686
| DHX37 | | Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Benign
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125444975
- GRCh38:
- Chr12:124960429
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125441359
- GRCh38:
- Chr12:124956813
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125438616
- GRCh38:
- Chr12:124954070
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125438549
- GRCh38:
- Chr12:124954003
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125438523
- GRCh38:
- Chr12:124953977
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125438516
- GRCh38:
- Chr12:124953970
| DHX37 | S869G | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125438414
- GRCh38:
- Chr12:124953868
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125437142
- GRCh38:
- Chr12:124952596
| DHX37 | | Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Benign
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125435388
- GRCh38:
- Chr12:124950842
| DHX37 | | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Vanishing testis | Benign
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125434716
- GRCh38:
- Chr12:124950170
| DHX37 | | not provided, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Vanishing testis
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125434580
- GRCh38:
- Chr12:124950034
| DHX37 | R1081Q | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125437019
- GRCh38:
- Chr12:124952473
| DHX37 | | not provided, Vanishing testis, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125462006
- GRCh38:
- Chr12:124977460
| DHX37 | E257K | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Uncertain significance
(Sep 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125457141
- GRCh38:
- Chr12:124972595
| DHX37 | V329I | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, not provided | Uncertain significance
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125432716
- GRCh38:
- Chr12:124948170
| DHX37 | R1101H | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Inborn genetic diseases | Uncertain significance
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125435263
- GRCh38:
- Chr12:124950717
| DHX37 | V986M | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, not provided | Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:125453089
- GRCh38:
- Chr12:124968543
| DHX37 | | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Pathogenic
(Jan 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:125465274-125465275
- GRCh38:
- Chr12:124980728-124980729
| DHX37 | | Vanishing testis | Uncertain significance
(Oct 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:125467168
- GRCh38:
- Chr12:124982622
| DHX37 | R93Q | Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorders,
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Pathogenic/Likely pathogenic
(Jan 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:125441648
- GRCh38:
- Chr12:124957102
| DHX37 | V731M | Neurodevelopmental delay, Seizure, Intellectual disability,
Neurodevelopmental disorders, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | Pathogenic/Likely pathogenic
(Jan 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:125453449
- GRCh38:
- Chr12:124968903
| DHX37 | N419K | Abnormal brain morphology | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:125451713
- GRCh38:
- Chr12:124967167
| DHX37 | R487H | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Vanishing testis, Abnormal brain morphology
| Conflicting interpretations of pathogenicity
(Jul 26, 2023) | criteria provided, conflicting interpretations |