Total 14 pathogenic variants reported for Nephrotic syndrome, type 12

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	SNV Germline	Chr16:56834768	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 12 Condition: not provided Nephrotic syndrome Colorectal cancer Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA357847	rs_145473779	11 SubmittersRCV000210563 RCV001799635 RCV001849346 RCV005893864 RCV005893865
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys)	SNV Germline	Chr16:56836704	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 12 Nephrotic syndrome	No Assertion Criteria Provided	CA357852	rs_757674160	2 SubmittersRCV000210657 RCV001849347
NM_014669.5(NUP93):c.1537+1G>A	SNV Germline	Chr16:56833407	Pathogenic	Nephrotic syndrome, type 12 Colon adenocarcinoma	No Assertion Criteria Provided	CA357849	rs_138909849	2 SubmittersRCV000210572 RCV005893866
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)	SNV Germline	Chr16:56831918	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 12 Nephrotic syndrome Condition: not provided NUP93-related disorder Gastric cancer Uterine carcinosarcoma Sarcoma Ovarian serous cystadenocarcinoma Acute myeloid leukemia Cervical cancer	Criteria Provided Conflicting Classifications	CA357850	rs_145146218	11 SubmittersRCV000210641 RCV001328162 RCV001532324 RCV003417761 RCV005893870 RCV005893872 RCV005893869 RCV005893871 RCV005893867 RCV005893868
NM_014669.5(NUP93):c.1709T>A (p.Val570Glu)	SNV Germline	Chr16:56834414	Likely pathogenic	Nephrotic syndrome, type 12	No Assertion Criteria Provided	CA395991393	rs_1351580598	1 SubmittersRCV000735740
NM_014669.5(NUP93):c.-14-1G>A	SNV Germline	Chr16:56748233	Likely pathogenic	Nephrotic syndrome, type 12	Criteria Provided Single Submitter	CA2580617892	rs_2144456685	1 SubmittersRCV003328137
NM_014669.5(NUP93):c.1733G>C (p.Arg578Pro)	SNV Unknown	Chr16:56834438	Likely pathogenic	Nephrotic syndrome, type 12	Criteria Provided Single Submitter	CA395991486	rs_201617246	1 SubmittersRCV003985213
NM_014669.5(NUP93):c.927+1G>A	SNV Germline	Chr16:56829110	Pathogenic	Nephrotic syndrome, type 12	Criteria Provided Single Submitter		rs_758865966	1 SubmittersRCV004566385
NM_014669.5(NUP93):c.1732C>T (p.Arg578Ter)	SNV Germline	Chr16:56834437	Likely pathogenic	Nephrotic syndrome, type 12	Criteria Provided Single Submitter			1 SubmittersRCV004813435
NM_014669.5(NUP93):c.406G>T (p.Glu136Ter)	SNV Germline	Chr16:56805549	Likely pathogenic	Nephrotic syndrome, type 12	Criteria Provided Single Submitter			1 SubmittersRCV005362278