ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3
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 | |||
TMEM127 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
752 | 992 | |
PAX8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
105 | 223 | |
BCL2L11 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 77 | |
ACOXL | - | - | - |
GRCh38 GRCh37 |
37 | 105 |
ACTR1B | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 49 | |
ADRA2B | - | - |
GRCh38 GRCh37 |
48 | 112 | |
AFF3 | - | - |
GRCh38 GRCh37 |
147 | 169 | |
ANAPC1 | - | - |
GRCh38 GRCh37 |
118 | 194 | |
ANKRD23 | - | - |
GRCh38 GRCh37 |
15 | 78 | |
ANKRD36 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 62 |
There are 114 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) |
|
Aug 31, 2022 | RCV000682168.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024