ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)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 | |||
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
35 | 60 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
943 | 986 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
12 | 84 | |
BTD | - | - |
GRCh38 GRCh37 |
647 | 724 | |
C3orf20 | - | - |
GRCh38 GRCh37 |
12 | 32 | |
CAPN7 | - | - |
GRCh38 GRCh37 |
36 | 57 | |
CCDC174 | - | - |
GRCh38 GRCh37 |
65 | 96 | |
CHCHD4 | - | - |
GRCh38 GRCh37 |
11 | 32 | |
COLQ | - | - |
GRCh38 GRCh37 |
566 | 591 | |
DAZL | - | - |
GRCh38 GRCh37 |
30 | 50 |
There are 19 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 16, 2015 | RCV000511037.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024