Total 18 pathogenic variants reported for Congenital anomalies of kidney and urinary tract 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015375.3(DSTYK):c.654+1G>A	SNV Germline	Chr1:205187417	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided DSTYK-related disorder Hereditary spastic paraplegia 23 Chronic lymphocytic leukemia/small lymphocytic lymphoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA1353006	rs_201091809	6 SubmittersRCV000054497 RCV001853078 RCV003905015 RCV003387748 RCV005890367 RCV005890366
NM_015375.3(DSTYK):c.24G>A (p.Trp8Ter)	SNV Germline	Chr1:205211512	Pathogenic	Congenital anomalies of kidney and urinary tract 1	No Assertion Criteria Provided	CA10575599	rs_879255515	1 SubmittersRCV000054498
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)	SNV Germline	Chr1:205211450	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA144624	rs_200780796	7 SubmittersRCV000054500 RCV000902729 RCV001170058
NM_015375.3(DSTYK):c.1819-3C>T	SNV Germline	Chr1:205161390	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA1352732	rs_367692056	5 SubmittersRCV000416578 RCV000996114 RCV005893839 RCV005893838
NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln)	SNV Germline	Chr1:205162079	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided DSTYK-related disorder	Criteria Provided Conflicting Classifications	CA1352764	rs_148815814	3 SubmittersRCV000416602 RCV002515572 RCV003947684
NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu)	SNV Germline	Chr1:205211483	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided DSTYK-related disorder	Criteria Provided Conflicting Classifications	CA1353145	rs_202068245	4 SubmittersRCV000416593 RCV002057056 RCV003947685
NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr1:205163896	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Hereditary spastic paraplegia 23 Complex hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA344397914	rs_77626160	2 SubmittersRCV001333861 RCV003147620 RCV005361537
NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)	SNV Germline	Chr16:3662012	Pathogenic	Congenital anomalies of kidney and urinary tract 1	No Assertion Criteria Provided	CA394565060	rs_2548299083	1 SubmittersRCV003235001
NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp)	SNV Unknown	Chr3:48659493	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	No Assertion Criteria Provided	CA2385167	rs_560173014	1 SubmittersRCV003457219
NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln)	SNV Unknown	Chr3:48659535	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	No Assertion Criteria Provided	CA2385176	rs_201106333	1 SubmittersRCV003457220
NM_015375.3(DSTYK):c.1477G>T (p.Gly493Ter)	SNV Germline	Chr1:205163803	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	Criteria Provided Single Submitter	CA344397395	rs_746112821	1 SubmittersRCV003990649
NM_015375.3(DSTYK):c.1394A>G (p.Gln465Arg)	SNV Germline	Chr1:205163886	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	Criteria Provided Single Submitter	CA344397866	rs_2526841964	1 SubmittersRCV004554994
NM_000278.5(PAX2):c.763C>T (p.Gln255Ter)	SNV Unknown	Chr10:100806576	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	Criteria Provided Single Submitter			1 SubmittersRCV005054967
NM_000278.5(PAX2):c.206T>C (p.Leu69Pro)	SNV Germline	Chr10:100749908	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1 Focal segmental glomerulosclerosis 7	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005054968 RCV005254983
NM_000278.5(PAX2):c.983G>T (p.Gly328Val)	SNV Germline	Chr10:100824711	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	Criteria Provided Single Submitter			1 SubmittersRCV005054969
NM_000278.5(PAX2):c.617-1G>T	SNV Germline	Chr10:100806429	Likely pathogenic	Congenital anomalies of kidney and urinary tract 1	Criteria Provided Single Submitter			1 SubmittersRCV005054974