ClinVar Genomic variation as it relates to human health
NC_000017.11:g.44846894_44962103del
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 | |||
EFTUD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
648 | 658 | |
C1QL1 | - | - |
GRCh38 GRCh37 |
14 | 24 | |
CCDC103 | - | - |
GRCh38 GRCh37 |
172 | 199 | |
FAM187A | - | - | - | GRCh38 | - | 14 |
GFAP | - | - |
GRCh38 GRCh37 |
440 | 509 | |
HIGD1B | - | - |
GRCh38 GRCh37 |
4 | 13 | |
KIF18B | - | - |
GRCh38 GRCh37 |
2 | 12 | |
LOC130060994 | - | - | - | GRCh38 | - | 43 |
LOC130060995 | - | - | - | GRCh38 | - | 7 |
LOC130060996 | - | - | - | GRCh38 | - | 6 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 22, 2021 | RCV001839126.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023