ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3
Germline
Classification
(1)
Pathogenic
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 | |||
AHDC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1079 | 1092 | |
ARID1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1097 | 1272 | |
COL16A1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
63 | 86 | |
EXO5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
30 | 45 | |
COL9A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
981 | 1037 | |
A3GALT2 | - | - |
GRCh38 GRCh37 |
2 | 13 | |
ADGRB2 | - | - |
GRCh38 GRCh37 |
234 | 251 | |
ADPRS | - | - |
GRCh38 GRCh37 |
43 | 56 | |
AGO1 | - | - |
GRCh38 GRCh37 |
73 | 95 | |
AGO3 | - | - |
GRCh38 GRCh37 |
36 | 54 |
There are 1137 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 1, 2012 | RCV000138891.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023