ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3
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 | |||
ATPAF1 | - | - |
GRCh38 GRCh37 |
9 | 17 | |
DMBX1 | - | - |
GRCh38 GRCh37 |
28 | 38 | |
EFCAB14 | - | - |
GRCh38 GRCh37 |
8 | 27 | |
FAAH | - | - |
GRCh38 GRCh37 |
44 | 55 | |
KNCN | - | - |
GRCh38 GRCh37 |
- | 24 | |
LRRC41 | - | - |
GRCh38 GRCh37 |
43 | 213 | |
MKNK1 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
MOB3C | - | - | - |
GRCh38 GRCh37 |
26 | 35 |
NSUN4 | - | - |
GRCh38 GRCh37 |
17 | 30 | |
TEX38 | - | - | - |
GRCh38 GRCh37 |
17 | 25 |
There is 1 more gene 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 30, 2018 | RCV001007440.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022