ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1
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 | |||
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 159 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
27 | 165 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
29 | 107 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
65 | 177 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
57 | 155 |
CEP104 | - | - |
GRCh38 GRCh37 |
398 | 553 | |
DFFB | - | - |
GRCh38 GRCh37 |
14 | 112 | |
HES5 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 147 | |
LRRC47 | - | - |
GRCh38 GRCh37 |
30 | 132 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 9, 2018 | RCV000790598.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023