GJD2-DT

GJD2 divergent transcript, the group of Divergent transcripts

Basic information

Links

ENSG00000250007 ∙ NCBI:101928174 ∙ ∙ HGNC:55560 ∙ ∙ ∙ 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 GJD2-DT gene.

• not provided (172 variants)
• Cardiomyopathy (134 variants)
• Cardiovascular phenotype (106 variants)
• not specified (98 variants)
• Dilated cardiomyopathy 1R (92 variants)
• Hypertrophic cardiomyopathy 11 (91 variants)
• Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5 (81 variants)
• Atrial septal defect 5;Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R (72 variants)
• Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11 (66 variants)
• Hypertrophic cardiomyopathy (51 variants)
• Dilated Cardiomyopathy, Dominant (42 variants)
• Left ventricular noncompaction cardiomyopathy (42 variants)
• Atrial septal defect (41 variants)
• Familial restrictive cardiomyopathy (41 variants)
• Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11 (41 variants)
• Hypertrophic cardiomyopathy 11;Atrial septal defect 5;Dilated cardiomyopathy 1R (38 variants)
• Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11;Atrial septal defect 5 (32 variants)
• Primary familial hypertrophic cardiomyopathy (8 variants)
• ACTC1-related condition (7 variants)
• Atrial septal defect 5 (6 variants)
• Primary dilated cardiomyopathy (5 variants)
• Inborn genetic diseases (3 variants)
• Wolff-Parkinson-White pattern (2 variants)
• Dilated cardiomyopathy 1A (2 variants)
• Left ventricular noncompaction 4 (1 variants)
• See cases (1 variants)
• Dilated left ventricle (1 variants)
• Primary dilated cardiomyopathy;Left ventricular noncompaction (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJD2-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	6	12	338	253	38	647
Total	6	12	338	253	38

Highest pathogenic variant AF is 0.00000658

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP