ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)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 | |||
CDH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4339 | 4428 | |
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
517 | 564 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
257 | 290 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
956 | 1118 | |
GNAO1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 505 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1383 | 1425 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 52 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
931 | 958 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
36 | 62 | |
ADGRG5 | - | - |
GRCh38 GRCh37 |
24 | 51 |
There are 186 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 22, 2018 | RCV000683820.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023