ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:18743223-20246715)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 | |||
AKAP10 | - | - |
GRCh38 GRCh37 |
40 | 153 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
29 | 140 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
626 | 748 | |
B9D1 | - | - |
GRCh38 GRCh37 |
198 | 335 | |
EPN2 | - | - |
GRCh38 GRCh37 |
22 | 131 | |
FAM83G | - | - |
GRCh38 GRCh37 |
- | 195 | |
GRAP | - | - |
GRCh38 GRCh37 |
4 | 119 | |
GRAPL | - | - | - |
GRCh38 GRCh37 |
- | 109 |
MAPK7 | - | - |
GRCh38 GRCh37 |
51 | 160 | |
MFAP4 | - | - |
GRCh38 GRCh37 |
17 | 126 |
There are 8 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) |
|
Jul 18, 2022 | RCV000683907.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024