ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 103 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
150 | 210 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
22 | 84 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3480 | 3544 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
78 | 134 | |
CLCN7 | - | - |
GRCh38 GRCh37 |
1125 | 1242 | |
CRAMP1 | - | - | - |
GRCh38 GRCh37 |
95 | 153 |
EME2 | - | - |
GRCh38 GRCh37 |
5 | 146 | |
FAHD1 | - | - |
GRCh38 GRCh37 |
16 | 88 | |
GNPTG | - | - |
GRCh38 GRCh37 |
767 | 963 |
There are 28 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 21, 2022 | RCV002473769.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023