DAAM2-AS1
Basic information
Region (hg38): 6:39848370-39900071
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (14 variants)
- not provided (2 variants)
- Nephrotic syndrome, type 24 (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAAM2-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 16 | 18 | ||||
Total | 0 | 0 | 16 | 1 | 1 |
Variants in DAAM2-AS1
This is a list of pathogenic ClinVar variants found in the DAAM2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-39856309-C-T | Inborn genetic diseases | Likely benign (May 20, 2024) | ||
6-39856311-C-T | DAAM2-related disorder | Likely benign (Jun 14, 2024) | ||
6-39856313-G-A | DAAM2-related disorder • Inborn genetic diseases | Uncertain significance (Jun 05, 2024) | ||
6-39856313-G-T | Inborn genetic diseases | Uncertain significance (Jul 19, 2023) | ||
6-39856322-G-A | Inborn genetic diseases | Uncertain significance (Oct 25, 2023) | ||
6-39856329-T-C | DAAM2-related disorder | Benign (Feb 19, 2019) | ||
6-39856347-C-G | Inborn genetic diseases | Uncertain significance (Oct 28, 2024) | ||
6-39856353-C-T | DAAM2-related disorder | Benign (Feb 24, 2020) | ||
6-39856354-G-A | DAAM2-related disorder | Benign (Mar 07, 2018) | ||
6-39856384-C-T | Inborn genetic diseases | Uncertain significance (May 04, 2022) | ||
6-39856431-G-A | DAAM2-related disorder | Likely benign (Apr 07, 2022) | ||
6-39856434-C-T | DAAM2-related disorder | Likely benign (Jul 07, 2023) | ||
6-39860967-T-C | Inborn genetic diseases | Uncertain significance (Dec 01, 2022) | ||
6-39860979-C-A | Nephrotic syndrome, type 24 • DAAM2-related disorder | Uncertain significance (Feb 01, 2023) | ||
6-39864446-C-T | Uncertain significance (Dec 01, 2016) | |||
6-39864487-C-T | Inborn genetic diseases | Uncertain significance (May 26, 2022) | ||
6-39864488-G-A | DAAM2-related disorder | Benign (May 24, 2019) | ||
6-39865007-G-C | Nephrotic syndrome, type 24 | Pathogenic (Apr 08, 2021) | ||
6-39865015-G-T | DAAM2-related disorder | Likely benign (Sep 25, 2019) | ||
6-39865058-C-T | Inborn genetic diseases | Uncertain significance (Nov 03, 2022) | ||
6-39865059-G-A | Inborn genetic diseases | Uncertain significance (Jul 26, 2021) | ||
6-39867500-T-C | Benign (Dec 31, 2019) | |||
6-39867587-G-C | Inborn genetic diseases | Uncertain significance (Aug 04, 2023) | ||
6-39867595-C-T | Inborn genetic diseases | Uncertain significance (Mar 06, 2023) | ||
6-39867596-G-A | DAAM2-related disorder | Benign (Jul 30, 2019) |
GnomAD
Source:
dbNSFP
Source: