ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)
Germline
Classification
(1)
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 | |||
MEF2C | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
453 | 560 | |
RASA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
292 | 1316 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6295 | 6351 | |
CCNH | - | - |
GRCh38 GRCh37 |
22 | 1047 | |
CETN3 | - | - |
GRCh38 GRCh37 |
8 | 37 | |
COX7C | - | - |
GRCh38 GRCh37 |
5 | 20 | |
EDIL3 | - | - |
GRCh38 GRCh37 |
36 | 50 | |
HAPLN1 | - | - |
GRCh38 GRCh37 |
18 | 27 | |
LYSMD3 | - | - | - |
GRCh38 GRCh37 |
24 | 53 |
MBLAC2 | - | - | - |
GRCh38 GRCh37 |
15 | 49 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053507.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022