CD2AP-DT

CD2AP divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 6:47476441-47478160

Links

ENSG00000270761 ∙ ∙ ∙ HGNC:55263 ∙ ∙ ∙ 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 CD2AP-DT gene.

• Focal segmental glomerulosclerosis 3, susceptibility to (12 variants)
• not provided (3 variants)
• Focal segmental glomerulosclerosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD2AP-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			7	2	4	13
Total	0	0	7	2	4

Variants in CD2AP-DT

This is a list of pathogenic ClinVar variants found in the CD2AP-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
6-47477804-C-A		Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Jan 16, 2020)
6-47477804-C-G		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Nov 11, 2018)
6-47477807-C-T		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)
6-47477916-C-T		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)
6-47477921-G-C		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)
6-47477948-G-C		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)
6-47477978-G-A		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)
6-47478048-C-T		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)
6-47478053-A-C		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Nov 10, 2018)
6-47478054-G-A		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)
6-47478075-TAGG-T		Focal segmental glomerulosclerosis	Likely benign (Jun 14, 2016)
6-47478079-A-G		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Apr 27, 2017)
6-47478115-C-G		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP