ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2(chr5:136409875-137739167)
Germline
Classification
(1)
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 | |||
BRD8 | - | - |
GRCh38 GRCh37 |
43 | 64 | |
CDC23 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CDC25C | - | - |
GRCh38 GRCh37 |
30 | 49 | |
FAM13B | - | - |
GRCh38 GRCh37 |
35 | 64 | |
FAM53C | - | - |
GRCh38 GRCh37 |
22 | 40 | |
GFRA3 | - | - |
GRCh38 GRCh37 |
13 | 34 | |
HNRNPA0 | - | - |
GRCh38 GRCh37 |
9 | 26 | |
KDM3B | - | - |
GRCh38 GRCh37 |
216 | 248 | |
KIF20A | - | - |
GRCh38 GRCh37 |
416 | 437 | |
KLHL3 | - | - |
GRCh38 GRCh37 |
288 | 308 |
There are 5 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 15, 2021 | RCV001352638.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022