ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1
Germline
Classification
(1)
Benign
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 | |||
GTF2H2 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 57 | |
LOC111089946 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 45 |
LOC113002590 | - | - | - |
GRCh38 GRCh38 |
1 | 39 |
NAIP | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
12 | 69 | |
SERF1A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 61 | |
SERF1B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 40 |
SMN-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 52 |
SMN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
149 | 212 | |
SMN2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
7 | 56 | |
SNORD13B-2 | - | - | - |
GRCh38 GRCh38 |
1 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jun 25, 2013 | RCV000133740.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023