ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p15.1(chr11:17527585-18606820)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 | |||
GTF2H1 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 35 | |
HPS5 | - | - |
GRCh38 GRCh38 GRCh37 |
947 | 996 | |
KCNC1 | - | - |
GRCh38 GRCh37 |
432 | 451 | |
LDHA | - | - |
GRCh38 GRCh38 GRCh37 |
200 | 219 | |
LDHAL6A | - | - |
GRCh38 GRCh37 |
9 | 27 | |
LDHC | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 33 | |
MRGPRX3 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
MRGPRX4 | - | - |
GRCh38 GRCh37 |
22 | 39 | |
MYOD1 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
OTOG | - | - |
GRCh38 GRCh37 |
1246 | 1269 |
There are 10 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) |
|
Nov 17, 2017 | RCV000683355.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023