ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1
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 | |||
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1763 | 2093 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2693 | 2716 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
741 | 768 | |
CCDC14 | - | - |
GRCh38 GRCh37 |
42 | 66 | |
CD86 | - | - |
GRCh38 GRCh37 |
22 | 42 | |
CSTA | - | - |
GRCh38 GRCh37 |
19 | 42 | |
DTX3L | - | - |
GRCh38 GRCh37 |
35 | 59 | |
EAF2 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
FAM162A | - | - |
GRCh38 GRCh37 |
11 | 32 | |
GOLGB1 | - | - |
GRCh38 GRCh37 |
166 | 187 |
There are 174 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 12, 2011 | RCV000051569.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024