Total 1 pathogenic variants reported for Diffuse mesangial sclerosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)	SNV Germline	Chr2:227118706	Likely pathogenic	Autosomal recessive Alport syndrome Diffuse mesangial sclerosis Condition: not provided Autosomal recessive Alport syndrome Hematuria, benign familial, 1 Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350861993	rs_1553695389	7 SubmittersRCV000673705 RCV002284205 RCV003558524 RCV005019160 RCV005632619