ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)
Germline
Classification
(1)
Likely pathogenic
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 | |||
ALDH1L1 | - | - |
GRCh38 GRCh37 |
73 | 100 | |
C3orf22 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
CFAP100 | - | - | - |
GRCh38 GRCh37 |
54 | 70 |
CHCHD6 | - | - |
GRCh38 GRCh37 |
16 | 38 | |
CHST13 | - | - |
GRCh38 GRCh37 |
3 | 45 | |
HEG1 | - | - |
GRCh38 GRCh37 |
84 | 112 | |
ITGB5 | - | - |
GRCh38 GRCh37 |
52 | 71 | |
KALRN | - | - |
GRCh38 GRCh37 |
75 | 99 | |
KLF15 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
MUC13 | - | - |
GRCh38 GRCh37 |
- | 18 |
There are 11 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2018 | RCV000767706.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022