ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1
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 | |||
SRRM2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
463 | 514 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
948 | 1245 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
21 | 82 |
ATP6V0C | - | - |
GRCh38 GRCh37 |
21 | 64 | |
BICDL2 | - | - |
GRCh38 GRCh37 |
6 | 46 | |
CEMP1 | - | - |
GRCh38 GRCh37 |
- | 60 | |
CLDN6 | - | - |
GRCh38 GRCh37 |
15 | 55 | |
CLDN9 | - | - |
GRCh38 GRCh37 |
34 | 75 | |
ELOB | - | - |
GRCh38 GRCh37 |
18 | 58 | |
ERVK13-1 | - | - | - | GRCh38 | - | 11 |
There are 140 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 | RCV000053269.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024