ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3
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 | |||
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
283 | 310 | |
ACER1 | - | - |
GRCh38 GRCh37 |
17 | 28 | |
ALKBH7 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
C3 | - | - |
GRCh38 GRCh37 |
1186 | 1197 | |
CD70 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
CLPP | - | - |
GRCh38 GRCh37 |
169 | 205 | |
CRB3 | - | - |
GRCh38 GRCh37 |
6 | 19 | |
DENND1C | - | - |
GRCh38 GRCh37 |
46 | 59 | |
GPR108 | - | - |
GRCh38 GRCh37 |
42 | 52 | |
GTF2F1 | - | - |
GRCh38 GRCh37 |
44 | 58 |
There are 10 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) |
|
Jul 3, 2018 | RCV001007029.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022