ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.2(chr1:149802401-149944241)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 | |||
SF3B4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 133 | |
BOLA1 | - | - |
GRCh38 GRCh37 |
10 | 22 | |
H2AC18 | - | - |
GRCh38 GRCh37 |
- | 11 | |
H2AC19 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
H2AC20 | - | - |
GRCh38 GRCh37 |
1 | 14 | |
H2AC21 | - | - |
GRCh38 GRCh37 |
4 | 24 | |
H2BC21 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
H3C14 | - | - |
GRCh38 GRCh37 |
- | 11 | |
H3C15 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
H4C14 | - | - |
GRCh38 GRCh37 |
- | 11 |
There are 4 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) |
|
Dec 5, 2017 | RCV000684654.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022