WDR35-DT

WDR35 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:19990165-20004823

Links

ENSG00000227210 ∙ NCBI:101928222 ∙ ∙ HGNC:55818 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WDR35-DT gene.

• not provided (72 variants)
• Multiple epiphyseal dysplasia type 5 (28 variants)
• Inborn genetic diseases (8 variants)
• not specified (7 variants)
• Connective tissue disorder (4 variants)
• Osteoarthritis susceptibility 2 (2 variants)
• Short rib-polydactyly syndrome (2 variants)
• Multiple Epiphyseal Dysplasia, Dominant (2 variants)
• Cranioectodermal dysplasia (2 variants)
• Spondyloepimetaphyseal dysplasia, matrilin-3 type (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR35-DT 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	1	1	50	27	20	99
Total	1	1	50	27	20

Variants in WDR35-DT

This is a list of pathogenic ClinVar variants found in the WDR35-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-19990222-T-C			Likely benign (Mar 10, 2019)
2-19990398-C-A			Likely benign (Aug 09, 2018)
2-19992067-T-G		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19992115-T-C		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)
2-19992122-G-C		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19992156-C-T		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)
2-19992352-G-A		Multiple epiphyseal dysplasia type 5	Benign (Jan 12, 2018)
2-19992362-A-C		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)
2-19992451-C-T		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19992799-A-T		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19992900-T-G		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19992935-G-A		Cranioectodermal dysplasia • Multiple Epiphyseal Dysplasia, Dominant • Short rib-polydactyly syndrome • Multiple epiphyseal dysplasia type 5	Benign (Nov 12, 2018)
2-19992959-T-A		Multiple epiphyseal dysplasia type 5	Uncertain significance (Apr 27, 2017)
2-19993037-C-T		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 13, 2018)
2-19993067-G-C		Multiple epiphyseal dysplasia type 5	Uncertain significance (Jan 12, 2018)
2-19993116-G-A		Inborn genetic diseases	Uncertain significance (Jun 04, 2024)
2-19993133-T-A			Uncertain significance (May 08, 2019)
2-19993160-T-G			Likely benign (Oct 16, 2022)
2-19993170-G-A		not specified • Cranioectodermal dysplasia • Multiple Epiphyseal Dysplasia, Dominant • Short rib-polydactyly syndrome • Multiple epiphyseal dysplasia type 5	Benign/Likely benign (Jan 31, 2024)
2-19993173-AGTT-A			Likely benign (Aug 23, 2023)
2-19993174-G-A		Multiple epiphyseal dysplasia type 5	Uncertain significance (Mar 30, 2018)
2-19994065-A-G			Benign (May 13, 2021)
2-19994275-G-C		not specified	Benign (Nov 12, 2018)
2-19994286-C-T			Likely benign (Jan 12, 2024)
2-19994297-A-G			Uncertain significance (Dec 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP