ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)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 | |||
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 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
42 | 62 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
7 | 29 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
ALX3 | - | - |
GRCh38 GRCh37 |
64 | 83 | |
AMIGO1 | - | - |
GRCh38 GRCh37 |
20 | 39 |
There are 555 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 13, 2012 | RCV000142953.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024