ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
EXO5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 59 | |
CITED4 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
KCNQ4 | - | - |
GRCh38 GRCh37 |
373 | 393 | |
MIR30C1 | - | - |
GRCh38 GRCh37 |
- | 16 | |
NFYC | - | - |
GRCh38 GRCh37 |
7 | 23 | |
RIMS3 | - | - |
GRCh38 GRCh37 |
28 | 52 | |
ZNF684 | - | - | - |
GRCh38 GRCh37 |
25 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 16, 2014 | RCV000511219.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024