ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3
Germline
Classification
(1)
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 | |||
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2600 | 2694 | |
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11 | 44 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 71 | |
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 72 | |
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1487 | 1510 | |
ABCA4 | - | - |
GRCh38 GRCh37 |
3711 | 4067 | |
ABCD3 | - | - |
GRCh38 GRCh37 |
128 | 138 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
42 | 62 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AGL | - | - |
GRCh38 GRCh37 |
2646 | 2665 |
There are 169 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) |
|
Sep 22, 2014 | RCV000512354.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024