ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
462 | 573 | |
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
170 | 397 | |
RASA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
293 | 1327 | |
CERT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
130 | 201 | |
ACOT12 | - | - |
GRCh38 GRCh37 |
48 | 63 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6321 | 6377 | |
AGGF1 | - | - |
GRCh38 GRCh37 |
50 | 60 | |
ANKDD1B | - | - |
GRCh38 GRCh37 |
11 | 20 | |
ANKRA2 | - | - |
GRCh38 GRCh37 |
15 | 23 | |
ANKRD31 | - | - |
GRCh38 GRCh37 |
125 | 133 |
There are 90 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) |
|
Jul 2, 2018 | RCV001005683.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023