ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.1(chr1:71410579-78131158)
Germline
Classification
(1)
Pathogenic
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 | |||
ACADM | - | - |
GRCh38 GRCh37 |
888 | 920 | |
AK5 | - | - |
GRCh38 GRCh37 |
39 | 60 | |
ASB17 | - | - | - |
GRCh38 GRCh37 |
16 | 40 |
CRYZ | - | - |
GRCh38 GRCh37 |
24 | 52 | |
ERICH3 | - | - | - |
GRCh38 GRCh37 |
68 | 122 |
FPGT | - | - |
GRCh38 GRCh37 |
- | 88 | |
FPGT-TNNI3K | - | - | - |
GRCh38 GRCh37 |
- | 1113 |
LHX8 | - | - |
GRCh38 GRCh37 |
20 | 41 | |
LRRIQ3 | - | - |
GRCh38 GRCh37 |
55 | 82 | |
MSH4 | - | - |
GRCh38 GRCh37 |
79 | 103 |
There are 13 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767771.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022