ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ALOX15 | - | - |
GRCh38 GRCh37 |
42 | 84 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 181 | |
CYB5D2 | - | - | - |
GRCh38 GRCh37 |
22 | 67 |
GGT6 | - | - |
GRCh38 GRCh37 |
43 | 83 | |
MYBBP1A | - | - |
GRCh38 GRCh37 |
181 | 222 | |
PELP1 | - | - |
GRCh38 GRCh37 |
26 | 60 | |
SMTNL2 | - | - | - |
GRCh38 GRCh37 |
42 | 82 |
SPNS2 | - | - |
GRCh38 GRCh37 |
95 | 138 | |
SPNS3 | - | - |
GRCh38 GRCh37 |
49 | 99 | |
UBE2G1 | - | - |
GRCh38 GRCh37 |
- | 47 |
There is 1 more gene 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) |
|
Sep 11, 2018 | RCV001006862.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022