ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
AK4 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
DNAI4 | - | - |
GRCh38 GRCh37 |
51 | 80 | |
DNAJC6 | - | - |
GRCh38 GRCh37 |
306 | 335 | |
DYNLT5 | - | - |
GRCh38 GRCh37 |
11 | 36 | |
IL12RB2 | - | - |
GRCh38 GRCh37 |
458 | 484 | |
IL23R | - | - |
GRCh38 GRCh37 |
300 | 327 | |
INSL5 | - | - |
GRCh38 GRCh37 |
6 | 31 | |
JAK1 | - | - |
GRCh38 GRCh37 |
523 | 615 | |
LEPR | - | - |
GRCh38 GRCh37 |
295 | 347 |
There are 81 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 18, 2014 | RCV000140906.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024