ClinVar Genomic variation as it relates to human health
NC_000007.14:g.(?_16308523)_(16689906_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
ANKMY2 | - | - | - |
GRCh38 GRCh37 |
19 | 65 |
BZW2 | - | - |
GRCh38 GRCh37 |
9 | 56 | |
CRPPA | - | - |
GRCh38 GRCh37 |
514 | 763 | |
LOC129998004 | - | - | - | GRCh38 | - | 37 |
LOC129998005 | - | - | - | GRCh38 | - | 63 |
LOC129998006 | - | - | - | GRCh38 | - | 17 |
LRRC72 | - | - | - |
GRCh38 GRCh37 |
13 | 59 |
SOSTDC1 | - | - |
GRCh38 GRCh37 |
8 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 4, 2017 | RCV000708184.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024