ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3
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 |
448 | 553 | |
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
161 | 374 | |
RASA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
285 | 1285 | |
CERT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
99 | 149 | |
ACOT12 | - | - |
GRCh38 GRCh37 |
32 | 45 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6205 | 6258 | |
AGGF1 | - | - |
GRCh38 GRCh37 |
33 | 43 | |
ANKDD1B | - | - |
GRCh38 GRCh37 |
11 | 20 | |
ANKRD31 | - | - |
GRCh38 GRCh37 |
90 | 98 | |
ANKRD34B | - | - |
GRCh38 GRCh37 |
16 | 28 |
There are 682 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051839.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023