Total 60 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
 CA267472200 rs_953653119

3 SubmittersRCV000030741
NM_014967.5(FAN1):c.1234+2T>A SNV
Germline		 Chr15:30905899 Pathogenic Karyomegalic interstitial nephritis No Assertion Criteria Provided
 CA7450218 rs_767435461

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

4 SubmittersRCV000030744RCV001852612RCV004751230
NM_014967.5(FAN1):c.1375+1G>A SNV
Germline		 Chr15:30908259 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 CA391509018 rs_1305708707

2 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 Karyomegalic interstitial nephritis
not specified
Condition: not provided
FAN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7450182 rs_187082481

4 SubmittersRCV000763956RCV000413270RCV000880502RCV003970093
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
 CA7450323 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
 CA7450490 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
 CA391514165 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
 CA391510692 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
 CA7450694 rs_767651793

2 SubmittersRCV001849664
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter) SNV
Germline		 Chr15:30922310 Pathogenic/Likely pathogenic Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7450504 rs_199845994

3 SubmittersRCV003041218RCV005010902
NM_014967.5(FAN1):c.2878G>A (p.Asp960Asn) SNV
Germline		 Chr15:30930633 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Conflicting Classifications
 CA7450809 rs_751703979

2 SubmittersRCV003081225RCV005010947
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
 CA7450209 rs_201153099

2 SubmittersRCV003092966RCV003143487
NM_014967.5(FAN1):c.2260C>T (p.Arg754Ter) SNV
Germline		 Chr15:30925214 Pathogenic/Likely pathogenic Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7450549 rs_748666715

2 SubmittersRCV002630712RCV005356161
NM_014967.5(FAN1):c.771C>T (p.Phe257=) SNV
Germline		 Chr15:30905434 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Conflicting Classifications
 CA267512721 rs_372989498

2 SubmittersRCV002659126RCV005002866
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter) SNV
Germline		 Chr15:30930609 Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis Criteria Provided
Conflicting Classifications
 CA7450798 rs_184745027

3 SubmittersRCV003147168
NM_014967.5(FAN1):c.141C>A (p.Cys47Ter) SNV
Germline		 Chr15:30904804 Pathogenic/Likely pathogenic FAN1-related disorder
Karyomegalic interstitial nephritis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7449987 rs_144469584

2 SubmittersRCV003421140RCV005012942
NM_014967.5(FAN1):c.1227G>C (p.Gln409His) SNV
Germline		 Chr15:30905890 Conflicting classifications of pathogenicity Condition: not provided
Karyomegalic interstitial nephritis		 Criteria Provided
Conflicting Classifications
 CA267513391 rs_866101912

2 SubmittersRCV003393745RCV005012949
NM_014967.5(FAN1):c.1369C>T (p.Gln457Ter) SNV
Germline		 Chr15:30908252 Pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter
 rs_746677293

2 SubmittersRCV004584571
NM_014967.5(FAN1):c.28A>T (p.Lys10Ter) SNV
Germline		 Chr15:30904691 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005005735
NM_014967.5(FAN1):c.871G>T (p.Glu291Ter) SNV
Germline		 Chr15:30905534 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009449
NM_014967.5(FAN1):c.943C>T (p.Gln315Ter) SNV
Germline		 Chr15:30905606 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009451
NM_014967.5(FAN1):c.1232C>A (p.Ser411Ter) SNV
Germline		 Chr15:30905895 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009460
NM_014967.5(FAN1):c.1943+1G>A SNV
Germline		 Chr15:30918296 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009485
NM_014967.5(FAN1):c.1991G>A (p.Trp664Ter) SNV
Germline		 Chr15:30920592 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009487
NM_014967.5(FAN1):c.2116C>T (p.Arg706Ter) SNV
Germline		 Chr15:30922298 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009492
NM_014967.5(FAN1):c.2123G>A (p.Trp708Ter) SNV
Germline		 Chr15:30922305 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009493
NM_014967.5(FAN1):c.2299C>T (p.Gln767Ter) SNV
Germline		 Chr15:30925253 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009498
NM_014967.5(FAN1):c.2489-1G>A SNV
Germline		 Chr15:30928552 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009507
NM_014967.5(FAN1):c.2916+2T>G SNV
Germline		 Chr15:30930673 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005009526
NM_014967.5(FAN1):c.590C>A (p.Ser197Ter) SNV
Germline		 Chr15:30905253 Likely pathogenic Karyomegalic interstitial nephritis Criteria Provided
Single Submitter

1 SubmittersRCV005360463