ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1
Germline
Classification
(1)
Likely 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 | |||
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 567 | |
AMPH | - | - |
GRCh38 GRCh37 |
43 | 67 | |
ANLN | - | - |
GRCh38 GRCh37 |
408 | 437 | |
AOAH | - | - |
GRCh38 GRCh37 |
42 | 63 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1032 | 1067 | |
BMPER | - | - |
GRCh38 GRCh37 |
333 | 358 | |
DPY19L1 | - | - |
GRCh38 GRCh37 |
30 | 56 | |
EEPD1 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
ELMO1 | - | - |
GRCh38 GRCh37 |
26 | 48 | |
EPDR1 | - | - |
GRCh38 GRCh37 |
7 | 32 |
There are 14 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) |
|
- | RCV003986710.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024