ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.3(chr17:78005894-78686171)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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
719 | 1176 | |
CCDC40 | - | - |
GRCh38 GRCh38 GRCh37 |
954 | 997 | |
EIF4A3 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 54 | |
ENDOV | - | - |
GRCh38 GRCh37 |
30 | 56 | |
GAA | - | - |
GRCh38 GRCh38 GRCh37 |
2797 | 2848 | |
NPTX1 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
RNF213 | - | - |
GRCh38 GRCh37 |
420 | 725 | |
RPTOR | - | - |
GRCh38 GRCh37 |
49 | 75 | |
SGSH | - | - |
GRCh38 GRCh38 GRCh37 |
994 | 1476 | |
SLC26A11 | - | - |
GRCh38 GRCh37 |
47 | 79 |
There is 1 more gene 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 23, 2014 | RCV000512155.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024