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 |
1725 | 2050 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2575 | 2598 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
729 | 756 | |
CCDC14 | - | - |
GRCh38 GRCh37 |
33 | 57 | |
CD86 | - | - |
GRCh38 GRCh37 |
16 | 36 | |
CSTA | - | - |
GRCh38 GRCh37 |
17 | 40 | |
DTX3L | - | - |
GRCh38 GRCh37 |
26 | 49 | |
EAF2 | - | - |
GRCh38 GRCh37 |
9 | 29 | |
FAM162A | - | - |
GRCh38 GRCh37 |
8 | 29 | |
GOLGB1 | - | - |
GRCh38 GRCh37 |
120 | 140 |
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 | RCV000051569.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023