ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)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 | |||
BAZ1A | - | - |
GRCh38 GRCh37 |
62 | 98 | |
BRMS1L | - | - |
GRCh38 GRCh37 |
8 | 39 | |
CFL2 | - | - |
GRCh38 GRCh37 |
141 | 181 | |
EAPP | - | - |
GRCh38 GRCh37 |
18 | 44 | |
FAM177A1 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
INSM2 | - | - |
GRCh38 GRCh37 |
38 | 65 | |
MBIP | - | - |
GRCh38 GRCh37 |
13 | 46 | |
NFKBIA | - | - |
GRCh38 GRCh37 |
231 | 325 | |
PPP2R3C | - | - |
GRCh38 GRCh37 |
3 | 65 | |
PRORP | - | - |
GRCh38 GRCh37 |
1 | 85 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2022 | RCV002511791.13 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024