ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3737355-4266446)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 | |||
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 181 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
103 | 145 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
31 | 70 | |
CYB5D2 | - | - | - |
GRCh38 GRCh37 |
22 | 67 |
NCBP3 | - | - |
GRCh38 GRCh37 |
21 | 70 | |
P2RX1 | - | - |
GRCh38 GRCh37 |
56 | 94 | |
UBE2G1 | - | - |
GRCh38 GRCh37 |
- | 47 | |
ZZEF1 | - | - |
GRCh38 GRCh37 |
172 | 220 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 8, 2017 | RCV000683880.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022