ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)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 | |||
IFT20 | - | - |
GRCh38 GRCh37 |
11 | 21 | |
KCNJ12 | - | - |
GRCh38 GRCh37 |
60 | 82 | |
KSR1 | - | - |
GRCh38 GRCh37 |
39 | 55 | |
LGALS9 | - | - |
GRCh38 GRCh37 |
36 | 50 | |
LINC02693 | - | - | - |
GRCh38 GRCh37 |
5 | 27 |
LYRM9 | - | - | - |
GRCh38 GRCh37 |
5 | 17 |
MTRNR2L1 | - | - |
GRCh38 GRCh37 |
3 | 22 | |
NLK | - | - |
GRCh38 GRCh37 |
17 | 28 | |
NOS2 | - | - |
GRCh38 GRCh37 |
120 | 135 | |
TMEM97 | - | - |
GRCh38 GRCh37 |
6 | 16 |
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) |
|
Jan 20, 2016 | RCV000240004.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022