Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17574 indel NM_018062.3(FANCL):c.822-15_822-9delins177 -1 MedGen:CN068553,OMIM:614083 2 58390091 58390097 na na 17574 indel NM_018062.3(FANCL):c.822-15_822-9delins177 -1 MedGen:CN068553,OMIM:614083 2 58162956 58162962 na na 39658 deletion FANCL, 3-BP DEL, 1007TAT -1 MedGen:CN068553,OMIM:614083 na -1 -1 na na 39659 duplication FANCL, 4-BP DUP, 1095AATT -1 MedGen:CN068553,OMIM:614083 na -1 -1 na na 205671 deletion NM_001114636.1(FANCL):c.268delC (p.Leu90Phefs) 869320684 MedGen:CN068553,OMIM:614083 2 58453868 58453868 G - 205671 deletion NM_001114636.1(FANCL):c.268delC (p.Leu90Phefs) 869320684 MedGen:CN068553,OMIM:614083 2 58226733 58226733 G - 205672 deletion NM_001114636.1(FANCL):c.430delT (p.Ser144Leufs) 869320685 MedGen:CN068553,OMIM:614083 2 58204171 58204171 A - 205672 deletion NM_001114636.1(FANCL):c.430delT (p.Ser144Leufs) 869320685 MedGen:CN068553,OMIM:614083 2 58431306 58431306 A - 207011 duplication NM_018062.3(FANCL):c.1096_1099dupATTA (p.Thr367Asnfs) 759217526 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN068553,OMIM:614083 2 58159794 58159797 TAAT TAATTAAT 207011 duplication NM_018062.3(FANCL):c.1096_1099dupATTA (p.Thr367Asnfs) 759217526 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN068553,OMIM:614083 2 58386929 58386932 TAAT TAATTAAT 212271 single nucleotide variant NM_018062.3(FANCL):c.884G>A (p.Arg295His) 375526911 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58162885 58162885 C T 212271 single nucleotide variant NM_018062.3(FANCL):c.884G>A (p.Arg295His) 375526911 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58390020 58390020 C T 221315 single nucleotide variant NM_018062.3(FANCL):c.1077T>C (p.Cys359=) 11539575 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58160123 58160123 A G 221315 single nucleotide variant NM_018062.3(FANCL):c.1077T>C (p.Cys359=) 11539575 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58387258 58387258 A G 221316 single nucleotide variant NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) 139801716 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58163454 58163454 A C 221316 single nucleotide variant NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) 139801716 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58390589 58390589 A C 221317 single nucleotide variant NM_018062.3(FANCL):c.706A>G (p.Ile236Val) 762904548 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58163503 58163503 T C 221317 single nucleotide variant NM_018062.3(FANCL):c.706A>G (p.Ile236Val) 762904548 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58390638 58390638 T C 221318 single nucleotide variant NM_018062.3(FANCL):c.693T>G (p.Gly231=) 864622189 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58390651 58390651 A C 221318 single nucleotide variant NM_018062.3(FANCL):c.693T>G (p.Gly231=) 864622189 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58163516 58163516 A C 221319 single nucleotide variant NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) 55849827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58459232 58459232 G A 221319 single nucleotide variant NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) 55849827 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58232097 58232097 G A 238962 single nucleotide variant NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) 149803148 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58159778 58159778 C G 238962 single nucleotide variant NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) 149803148 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58386913 58386913 C G 238963 single nucleotide variant NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) 773869051 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58160133 58160133 A C 238963 single nucleotide variant NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) 773869051 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58387268 58387268 A C 238964 deletion NM_018062.3(FANCL):c.1007_1009delTAT (p.Ile336_Cys337delinsSer) 747253294 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58161533 58161535 ATA - 238964 deletion NM_018062.3(FANCL):c.1007_1009delTAT (p.Ile336_Cys337delinsSer) 747253294 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58388668 58388670 ATA - 238965 single nucleotide variant NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) 140088149 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58161579 58161579 A T 238965 single nucleotide variant NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) 140088149 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58388714 58388714 A T 238966 single nucleotide variant NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) 149731356 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58165745 58165745 T C 238966 single nucleotide variant NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) 149731356 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58392880 58392880 T C 238967 deletion NM_018062.3(FANCL):c.426_438delTGCTTCTGGTAGA (p.Asp142Glufs) 878855046 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58204163 58204175 TCTACCAGAAGCA - 238967 deletion NM_018062.3(FANCL):c.426_438delTGCTTCTGGTAGA (p.Asp142Glufs) 878855046 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58431298 58431310 TCTACCAGAAGCA - 238968 single nucleotide variant NM_018062.3(FANCL):c.156-8A>C 878855045 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58229882 58229882 T G 238968 single nucleotide variant NM_018062.3(FANCL):c.156-8A>C 878855045 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58457017 58457017 T G 238969 single nucleotide variant NM_018062.3(FANCL):c.4G>T (p.Ala2Ser) 144057264 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58468445 58468445 C A 238969 single nucleotide variant NM_018062.3(FANCL):c.4G>T (p.Ala2Ser) 144057264 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58241310 58241310 C A 250750 single nucleotide variant NM_001114636.1(FANCL):c.996T>C (p.Ser332=) 848291 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58161561 58161561 A G 250750 single nucleotide variant NM_001114636.1(FANCL):c.996T>C (p.Ser332=) 848291 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58388696 58388696 A G 250751 single nucleotide variant NM_001114636.1(FANCL):c.375-49C>G 1404459 MedGen:CN169374 2 58204275 58204275 G C 250751 single nucleotide variant NM_001114636.1(FANCL):c.375-49C>G 1404459 MedGen:CN169374 2 58431410 58431410 G C 250752 single nucleotide variant NM_001114636.1(FANCL):c.217-11T>C 79588315 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58226795 58226795 A G 250752 single nucleotide variant NM_001114636.1(FANCL):c.217-11T>C 79588315 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58453930 58453930 A G 250753 single nucleotide variant NM_001114636.1(FANCL):c.-39A>G 41281511 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58468487 58468487 T C 250753 single nucleotide variant NM_001114636.1(FANCL):c.-39A>G 41281511 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 2 58241352 58241352 T C 286872 deletion NM_001114636.1(FANCL):c.*447_*450delTGTT 748896681 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58386450 58386453 AACA - 286872 deletion NM_001114636.1(FANCL):c.*447_*450delTGTT 748896681 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58159315 58159318 AACA - 286877 single nucleotide variant NM_001114636.1(FANCL):c.*333A>G 147811379 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58386567 58386567 T C 286877 single nucleotide variant NM_001114636.1(FANCL):c.*333A>G 147811379 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58159432 58159432 T C 286883 single nucleotide variant NM_001114636.1(FANCL):c.-39A>C 41281511 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58468487 58468487 T G 286883 single nucleotide variant NM_001114636.1(FANCL):c.-39A>C 41281511 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58241352 58241352 T G 287620 single nucleotide variant NM_001114636.1(FANCL):c.*296C>T 201610023 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58386604 58386604 G A 287620 single nucleotide variant NM_001114636.1(FANCL):c.*296C>T 201610023 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58159469 58159469 G A 287621 single nucleotide variant NM_001114636.1(FANCL):c.984G>A (p.Val328=) 200819615 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58388708 58388708 C T 287621 single nucleotide variant NM_001114636.1(FANCL):c.984G>A (p.Val328=) 200819615 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58161573 58161573 C T 287622 duplication NM_001114636.1(FANCL):c.947dupA (p.Tyr316Terfs) 529201454 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58388745 58388745 T TT 287622 duplication NM_001114636.1(FANCL):c.947dupA (p.Tyr316Terfs) 529201454 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58161610 58161610 T TT 287624 single nucleotide variant NM_001114636.1(FANCL):c.-40C>A 199661008 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58468488 58468488 G T 287624 single nucleotide variant NM_001114636.1(FANCL):c.-40C>A 199661008 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58241353 58241353 G T 287626 single nucleotide variant NM_001114636.1(FANCL):c.-44C>T 780348127 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58468492 58468492 G A 287626 single nucleotide variant NM_001114636.1(FANCL):c.-44C>T 780348127 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58241357 58241357 G A 290403 single nucleotide variant NM_001114636.1(FANCL):c.*165A>G 866675905 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58386735 58386735 T C 290403 single nucleotide variant NM_001114636.1(FANCL):c.*165A>G 866675905 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58159600 58159600 T C 290414 duplication NM_001114636.1(FANCL):c.791-10dupT 770095807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58390219 58390219 A AA 290414 duplication NM_001114636.1(FANCL):c.791-10dupT 770095807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58163084 58163084 A AA 290416 single nucleotide variant NM_001114636.1(FANCL):c.-13C>T 757714548 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58468461 58468461 G A 290416 single nucleotide variant NM_001114636.1(FANCL):c.-13C>T 757714548 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 2 58241326 58241326 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 2 58388696 rs848291 A G rs848291 9.65E-06 Bipolar disorder HPOID:0007302 DOID:3312 C cds-synon GWASdb_trait 2 58388696 rs848291 A G rs848291 3.41E-05 Bipolar Disorder HPOID:0007302 DOID:3312 C cds-synon GWASdb_trait 2 58394543 rs848286 T C rs848286 2.79E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 58412472 rs848280 T C rs848280 9.23E-05 Bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 2 58429870 rs17049406 A T rs17049406 1.02E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 58462731 rs2110664 C A rs2110664 8.36E-04 Cervical cancer HPOID:0003319 DOID:4362 T intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs11903456 2 58393836 58393836 intronic 0.811017 0.09097004230078849 GWAS of prostate cancer rs848291 2 58388696 58388696 exonic 0.782833 0.10633087512463299

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000115392.11 FANCL 608111