Total 24 pathogenic variants reported for Karyomegalic interstitial nephritis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter) SNV
Germline		 Chr15:30922302 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Multiple Submitters
No Conflicts
 rs_953653119

3 SubmittersRCV000030741
NM_014967.5(FAN1):c.1234+2T>A SNV
Germline		 Chr15:30905899 Pathogenic Karyomegalic interstitial nephritis No Assertion Criteria Provided
 rs_767435461

1 SubmittersRCV000030742
NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) SNV
Germline		 Chr15:30925199 Pathogenic Karyomegalic interstitial nephritis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130078 rs_387907279

3 SubmittersRCV000030744RCV001852612
NM_014967.5(FAN1):c.1375+1G>A SNV
Germline		 Chr15:30908259 Pathogenic Karyomegalic interstitial nephritis No Assertion Criteria Provided
 rs_1305708707

1 SubmittersRCV000030746
NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg) SNV
Germline		 Chr15:30930564 Pathogenic Karyomegalic interstitial nephritis No Assertion Criteria Provided
 CA130080 rs_387907280

1 SubmittersRCV000030748
NM_014967.5(FAN1):c.93T>G (p.Ile31Met) SNV
Germline		 Chr15:30904756 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Conflicting Classifications
 CA235918 rs_781134478

2 SubmittersRCV000171228RCV002470785
NM_014967.5(FAN1):c.1090A>C (p.Asn364His) SNV
Germline		 Chr15:30905753 Conflicting classifications of pathogenicity not specified
Karyomegalic interstitial nephritis
Condition: not provided
FAN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7450182 rs_187082481

4 SubmittersRCV000413270RCV000763956RCV000880502RCV003970093
NM_014967.5(FAN1):c.1102C>T (p.Gln368Ter) SNV
Germline		 Chr15:30905765 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 CA391527179 rs_778075842

1 SubmittersRCV000500635
NM_014967.5(FAN1):c.1520G>A (p.Arg507His) SNV
Germline		 Chr15:30910758 Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150393409

3 SubmittersRCV000760173RCV000960066
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln) SNV
Germline		 Chr15:30922253 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis
FAN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_111476645

4 SubmittersRCV000880660RCV002507555RCV003940417
NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter) SNV
Unknown		 Chr15:30922268 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 rs_2062351829

1 SubmittersRCV001251484
NM_014967.5(FAN1):c.1702C>T (p.Gln568Ter) SNV
Unknown		 Chr15:30913982 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 rs_2140913969

1 SubmittersRCV001536108
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) SNV
Germline		 Chr15:30928654 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 rs_767651793

2 SubmittersRCV001849664
NM_014967.5(FAN1):c.1184T>C (p.Leu395Pro) SNV
Germline		 Chr15:30905847 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003092966RCV003143487
NM_014967.5(FAN1):c.1369C>T (p.Gln457Ter) SNV
Germline		 Chr15:30908252 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV004584571