ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1
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 | |||
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 86 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 121 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
7 | 73 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
13 | 78 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
69 | 138 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
102 | 159 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
13 | 72 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3392 | 3453 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
162 | 228 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
47 | 101 |
There are 81 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) |
|
Feb 16, 2018 | RCV000849039.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023