ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
AKAP10 | - | - |
GRCh38 GRCh37 |
49 | 162 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
30 | 141 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
635 | 757 | |
B9D1 | - | - |
GRCh38 GRCh37 |
201 | 338 | |
EPN2 | - | - |
GRCh38 GRCh37 |
25 | 134 | |
MAPK7 | - | - |
GRCh38 GRCh37 |
57 | 166 | |
MFAP4 | - | - |
GRCh38 GRCh37 |
19 | 128 | |
RNF112 | - | - |
GRCh38 GRCh37 |
35 | 143 | |
SLC47A1 | - | - |
GRCh38 GRCh37 |
36 | 147 | |
SLC47A2 | - | - |
GRCh38 GRCh37 |
41 | 153 |
There are 2 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Oct 21, 2014 | RCV000510808.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024