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 SubmittersRCV000054497RCV001853078RCV003905015RCV003387748RCV005890367RCV005890366

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 SubmittersRCV000054500RCV000902729RCV001170058

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 SubmittersRCV000416578RCV000996114RCV005893839RCV005893838

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 SubmittersRCV000416602RCV002515572RCV003947684

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 SubmittersRCV000416593RCV002057056RCV003947685

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 SubmittersRCV001333861RCV003147620RCV005361537

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 SubmittersRCV005054968RCV005254983

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