ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
35 | 88 | |
ARLNC1 | - | - | GRCh38 | - | 21 | |
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 140 | |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
89 | 154 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 69 |
CDH13 | - | - |
GRCh38 GRCh37 |
133 | 231 | |
CDH13-AS1 | - | - | - | GRCh38 | - | 25 |
CDYL2 | - | - |
GRCh38 GRCh37 |
31 | 81 | |
CENPN | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 96 | |
CMC2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 71 |
There are 154 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CMIP-related neurodevelopmental disorder
|
Likely pathogenic (1) |
|
Jul 24, 2023 | RCV003448630.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024