ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.2(chr17:40570771-40797461)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 | |||
ATP6V0A1 | - | - |
GRCh38 GRCh37 |
58 | 66 | |
CAVIN1 | - | - |
GRCh38 GRCh37 |
139 | 146 | |
COASY | - | - |
GRCh38 GRCh37 |
301 | 322 | |
HSD17B1 | - | - |
GRCh38 GRCh37 |
6 | 48 | |
MLX | - | - |
GRCh38 GRCh37 |
16 | 38 | |
NAGLU | - | - |
GRCh38 GRCh37 |
1051 | 1270 | |
PSMC3IP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
RETREG3 | - | - |
GRCh38 GRCh37 |
29 | 51 | |
TUBG1 | - | - |
GRCh38 GRCh37 |
151 | 168 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 12, 2018 | RCV000683935.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022