ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:23840034-24057640)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 | |||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3634 | 4908 | |
AP1G2 | - | - |
GRCh38 GRCh37 |
4 | 87 | |
CMTM5 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
IL25 | - | - |
GRCh38 GRCh37 |
20 | 43 | |
JPH4 | - | - |
GRCh38 GRCh37 |
36 | 57 | |
MIR208A | - | - |
GRCh38 GRCh37 |
- | 36 | |
MIR208B | - | - |
GRCh38 GRCh37 |
- | 51 | |
MYH6 | - | - |
GRCh38 GRCh37 |
1883 | 2399 | |
NGDN | - | - |
GRCh38 GRCh37 |
19 | 40 | |
THTPA | - | - |
GRCh38 GRCh37 |
17 | 343 |
There is 1 more gene 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 21, 2017 | RCV000683589.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022