ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)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 |
295 | 327 | |
ACER1 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
ADGRE1 | - | - |
GRCh38 GRCh37 |
76 | 90 | |
ALKBH7 | - | - |
GRCh38 GRCh37 |
21 | 34 | |
C3 | - | - |
GRCh38 GRCh37 |
1203 | 1215 | |
CAPS | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 42 | |
CD70 | - | - |
GRCh38 GRCh37 |
25 | 42 | |
CLPP | - | - |
GRCh38 GRCh37 |
178 | 215 | |
CRB3 | - | - |
GRCh38 GRCh37 |
7 | 21 |
There are 105 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 24, 2012 | RCV000139338.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024