ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ARSB | - | - |
GRCh38 GRCh37 |
719 | 965 | |
BHMT | - | - |
GRCh38 GRCh37 |
29 | 49 | |
BHMT2 | - | - |
GRCh38 GRCh37 |
34 | 53 | |
CMYA5 | - | - |
GRCh38 GRCh37 |
347 | 359 | |
DMGDH | - | - |
GRCh38 GRCh37 |
124 | 147 | |
HOMER1 | - | - |
GRCh38 GRCh37 |
13 | 33 | |
JMY | - | - |
GRCh38 GRCh37 |
63 | 85 | |
LHFPL2 | - | - |
GRCh38 GRCh37 |
8 | 20 | |
SCAMP1 | - | - |
GRCh38 GRCh37 |
3 | 13 | |
TENT2 | - | - |
GRCh38 GRCh37 |
30 | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 27, 2021 | RCV002474865.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022