ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)
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 | |||
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2617 | 2714 | |
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11 | 44 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 72 | |
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 72 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AGL | - | - |
GRCh38 GRCh37 |
2668 | 2688 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
7 | 29 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
ALG14 | - | - |
GRCh38 GRCh37 |
77 | 156 | |
ALX3 | - | - |
GRCh38 GRCh37 |
64 | 83 |
There are 116 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053503.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023