ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)
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 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 567 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
22 | 53 | |
AMPH | - | - |
GRCh38 GRCh37 |
43 | 67 | |
ANLN | - | - |
GRCh38 GRCh37 |
408 | 437 | |
AOAH | - | - |
GRCh38 GRCh37 |
42 | 63 | |
AQP1 | - | - |
GRCh38 GRCh37 |
46 | 76 | |
AVL9 | - | - |
GRCh38 GRCh37 |
33 | 55 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1032 | 1067 | |
BMPER | - | - |
GRCh38 GRCh37 |
333 | 358 | |
CHN2 | - | - |
GRCh38 GRCh37 |
25 | 62 |
There are 45 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 1, 2022 | RCV002053677.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023