| - GRCh37:
- Chr6:30624844
- GRCh38:
- Chr6:30657067
| DHX16 | E197G, E618G, E678G | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Likely pathogenic
(Dec 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30638730
- GRCh38:
- Chr6:30670953
| DHX16 | | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30622986
- GRCh38:
- Chr6:30655209
| DHX16 | S449N, S870N, S930N | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(Jan 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30632772
- GRCh38:
- Chr6:30664995
| DHX16 | | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30632757
- GRCh38:
- Chr6:30664980
| DHX16 | P320S, P380S | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30622613
- GRCh38:
- Chr6:30654836
| DHX16 | R475Q, R896Q, R956Q | Neuromuscular disease and ocular or auditory anomalies with or without seizures, Inborn genetic diseases | Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:30622957
- GRCh38:
- Chr6:30655180
| DHX16 | R459C, R880C, R940C | Neuromuscular disease and ocular or auditory anomalies with or without seizures, Inborn genetic diseases | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:30638707-30638708
- GRCh38:
- Chr6:30670930-30670931
| DHX16 | K157fs, K97fs | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30623307
- GRCh38:
- Chr6:30655530
| DHX16 | R375*, R796*, R856* | Neuromuscular disease and ocular or auditory anomalies with or without seizures | Uncertain significance
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30624856
- GRCh38:
- Chr6:30657079
| DHX16 | T193M, T614M, T674M | not provided | Pathogenic
(Aug 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:30632615
- GRCh38:
- Chr6:30664838
| DHX16 | G367E, G427E | Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorders,
Neuromuscular disease and ocular or auditory anomalies with or without seizures | Pathogenic/Likely pathogenic
(Jul 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:30624786
- GRCh38:
- Chr6:30657009
| DHX16 | Q216H, Q637H, Q697H | Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neurodevelopmental disorders, Enlarged kidney,
Multiple renal cysts, Reduced renal corticomedullary differentiation | Pathogenic/Likely pathogenic
(Jul 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:30627820
- GRCh38:
- Chr6:30660043
| DHX16 | F101I, F522I, F582I | Corpus callosum, agenesis of, Periventricular heterotopia, Neurodevelopmental delay,
Seizure, Chorioretinal lacunae, Intellectual disability,
Neurodevelopmental disorders, Neuromuscular disease and ocular or auditory anomalies with or without seizures | Pathogenic/Likely pathogenic
(Jul 14, 2020) | no assertion criteria provided |