ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q31.3(chr5:144019753-144858721)x3
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 | |||
KCTD16 | - | - |
GRCh38 GRCh37 |
20 | 37 | |
LOC126807536 | - | - | - | GRCh38 | - | 12 |
LOC126807537 | - | - | - | GRCh38 | - | 6 |
LOC126807538 | - | - | - | GRCh38 | 1 | 7 |
LOC129994933 | - | - | - | GRCh38 | - | 6 |
LOC129994934 | - | - | - | GRCh38 | - | 6 |
LOC129994935 | - | - | - | GRCh38 | - | 6 |
YIPF5 | - | - |
GRCh38 GRCh37 |
19 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 6, 2011 | RCV000136936.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024