ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1
Germline
Classification
(1)
Likely 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 | |||
ATOH1 | - | - |
GRCh38 GRCh37 |
41 | 68 | |
BMPR1B | - | - |
GRCh38 GRCh37 |
363 | 394 | |
CCSER1 | - | - |
GRCh38 GRCh37 |
57 | 101 | |
FAM13A | - | - |
GRCh38 GRCh37 |
62 | 90 | |
GPRIN3 | - | - |
GRCh38 GRCh37 |
49 | 79 | |
GRID2 | - | - |
GRCh38 GRCh37 |
235 | 274 | |
HPGDS | - | - |
GRCh38 GRCh37 |
13 | 38 | |
MMRN1 | - | - |
GRCh38 GRCh37 |
87 | 115 | |
PDHA2 | - | - |
GRCh38 GRCh37 |
23 | 40 | |
PDLIM5 | - | - |
GRCh38 GRCh37 |
36 | 65 |
There are 4 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 12, 2013 | RCV000510980.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024