ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_65299551)_(67861772_?)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 | |||
AK4 | - | - |
GRCh38 GRCh37 |
15 | 41 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
DNAI4 | - | - |
GRCh38 GRCh37 |
59 | 89 | |
DNAJC6 | - | - |
GRCh38 GRCh37 |
312 | 343 | |
DYNLT5 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
IL12RB2 | - | - |
GRCh38 GRCh37 |
461 | 488 | |
IL23R | - | - |
GRCh38 GRCh37 |
302 | 329 | |
INSL5 | - | - |
GRCh38 GRCh37 |
7 | 33 | |
JAK1 | - | - |
GRCh38 GRCh37 |
529 | 623 | |
LEPR | - | - |
GRCh38 GRCh37 |
432 | 490 |
There are 6 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) |
|
Sep 12, 2022 | RCV003107630.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024