ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)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 | |||
ABTB1 | - | - |
GRCh38 GRCh37 |
45 | 60 | |
ALDH1L1 | - | - |
GRCh38 GRCh37 |
67 | 94 | |
C3orf22 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
CFAP100 | - | - | - |
GRCh38 GRCh37 |
43 | 59 |
CHCHD6 | - | - |
GRCh38 GRCh37 |
13 | 34 | |
CHST13 | - | - |
GRCh38 GRCh37 |
2 | 39 | |
HEG1 | - | - |
GRCh38 GRCh37 |
73 | 100 | |
ITGB5 | - | - |
GRCh38 GRCh37 |
48 | 67 | |
KALRN | - | - |
GRCh38 GRCh37 |
74 | 98 | |
KLF15 | - | - |
GRCh38 GRCh37 |
27 | 47 |
There are 18 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986465.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024