ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3
Germline
Classification
(1)
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 | |||
FOXL2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
231 | 266 | |
GATA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1482 | 1517 | |
ATR | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3365 | 3463 | |
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1763 | 2093 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
168 | 184 | |
GUCA1C | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 41 | |
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
450 | 471 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2691 | 2714 | |
A4GNT | - | - |
GRCh38 GRCh37 |
21 | 43 | |
ABHD10 | - | - |
GRCh38 GRCh37 |
16 | 33 |
There are 1335 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 18, 2014 | RCV000142340.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024