ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)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 | |||
TAOK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
178 | 191 | |
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 86 | |
ALDOC | - | - |
GRCh38 GRCh37 |
25 | 36 | |
BLTP2 | - | - |
GRCh38 GRCh37 |
104 | 126 | |
DHRS13 | - | - |
GRCh38 GRCh37 |
31 | 46 | |
ERAL1 | - | - |
GRCh38 GRCh37 |
23 | 51 | |
FAM222B | - | - | - |
GRCh38 GRCh37 |
35 | 47 |
FLOT2 | - | - |
GRCh38 GRCh37 |
35 | 47 | |
FOXN1 | - | - |
GRCh38 GRCh37 |
747 | 758 | |
IFT20 | - | - |
GRCh38 GRCh37 |
12 | 22 |
There are 33 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 7, 2023 | RCV003329553.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023