ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
GREM1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
300 | 370 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
AVEN | - | - |
GRCh38 GRCh37 |
17 | 209 | |
CHRM5 | - | - |
GRCh38 GRCh37 |
- | 70 | |
EMC4 | - | - |
GRCh38 GRCh37 |
3 | 38 | |
EMC7 | - | - |
GRCh38 GRCh37 |
9 | 43 | |
GOLGA8A | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 55 | |
KATNBL1 | - | - |
GRCh38 GRCh37 |
18 | 51 | |
LPCAT4 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 59 | |
NOP10 | - | - |
GRCh38 GRCh38 GRCh37 |
69 | 113 |
There are 5 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 24, 2022 | RCV003483225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024