ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3
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 | |||
CDCP1 | - | - |
GRCh38 GRCh37 |
50 | 58 | |
CLEC3B | - | - |
GRCh38 GRCh37 |
11 | 18 | |
EXOSC7 | - | - |
GRCh38 GRCh37 |
19 | 27 | |
KIAA1143 | - | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 17 |
KIF15 | - | - |
GRCh38 GRCh38 GRCh37 |
90 | 114 | |
TGM4 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 54 | |
TMEM42 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 24 |
ZDHHC3 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 21 | |
ZKSCAN7 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 42 |
ZNF197 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 55 |
There are 4 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) |
|
Jan 31, 2023 | RCV003484127.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024