ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1
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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
564 | 670 | |
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
366 | 414 | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 170 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1236 | 1340 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
237 | 338 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
10 | 56 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
22 | 69 |
ACOT7 | - | - |
GRCh38 GRCh37 |
22 | 82 | |
AGMAT | - | - |
GRCh38 GRCh37 |
16 | 50 | |
AGTRAP | - | - |
GRCh38 GRCh37 |
11 | 60 |
There are 549 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) |
|
Nov 11, 2011 | RCV000137948.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023