ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:4658216-5266343)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 | |||
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 765 |
CAMTA2 | - | - |
GRCh38 GRCh37 |
71 | 112 | |
CHRNE | - | - |
GRCh38 GRCh37 |
340 | 1314 | |
ENO3 | - | - |
GRCh38 GRCh37 |
323 | 358 | |
GLTPD2 | - | - | - |
GRCh38 GRCh37 |
6 | 54 |
GP1BA | - | - |
GRCh38 GRCh37 |
159 | 213 | |
INCA1 | - | - |
GRCh38 GRCh37 |
6 | 49 | |
KIF1C | - | - |
GRCh38 GRCh37 |
505 | 644 | |
MINK1 | - | - |
GRCh38 GRCh37 |
67 | 121 | |
PFN1 | - | - |
GRCh38 GRCh37 |
75 | 118 |
There are 14 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) |
|
Oct 12, 2021 | RCV002475693.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022