ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_256302)_(633035_?)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 | |||
ARHGDIG | - | - |
GRCh38 GRCh37 |
13 | 78 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
69 | 138 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
162 | 228 | |
DECR2 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 89 | |
FAM234A | - | - | - |
GRCh38 GRCh37 |
35 | 107 |
LUC7L | - | - |
GRCh38 GRCh37 |
15 | 81 | |
MRPL28 | - | - |
GRCh38 GRCh37 |
15 | 79 | |
NHLRC4 | - | - | - |
GRCh38 GRCh37 |
2 | 62 |
NME4 | - | - |
GRCh38 GRCh37 |
15 | 86 | |
PDIA2 | - | - |
GRCh38 GRCh37 |
61 | 126 |
There are 5 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 19, 2022 | RCV003113402.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023