ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ADAL | - | - |
GRCh38 GRCh37 |
13 | 40 | |
CCNDBP1 | - | - |
GRCh38 GRCh37 |
19 | 41 | |
EPB42 | - | - |
GRCh38 GRCh37 |
195 | 217 | |
LCMT2 | - | - |
GRCh38 GRCh37 |
59 | 86 | |
TGM5 | - | - |
GRCh38 GRCh37 |
146 | 168 | |
TGM7 | - | - |
GRCh38 GRCh37 |
52 | 75 | |
TMEM62 | - | - | - |
GRCh38 GRCh37 |
27 | 53 |
TP53BP1 | - | - |
GRCh38 GRCh37 |
85 | 180 | |
TTBK2 | - | - |
GRCh38 GRCh37 |
389 | 411 | |
TUBGCP4 | - | - |
GRCh38 GRCh37 |
421 | 524 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2018 | RCV000848497.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022