Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39602 single nucleotide variant NM_024513.3(FYCO1):c.1045C>T (p.Gln349Ter) 387906963 MedGen:C1864908,OMIM:610019 3 46009781 46009781 G A 39602 single nucleotide variant NM_024513.3(FYCO1):c.1045C>T (p.Gln349Ter) 387906963 MedGen:C1864908,OMIM:610019 3 45968289 45968289 G A 39603 single nucleotide variant NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter) 387906964 MedGen:C1864908,OMIM:610019 3 46008620 46008620 G A 39603 single nucleotide variant NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter) 387906964 MedGen:C1864908,OMIM:610019 3 45967128 45967128 G A 39604 single nucleotide variant FYCO1, IVS9DS, G-T, +1 -1 MedGen:C1864908,OMIM:610019 na -1 -1 na na 39605 duplication FYCO1, 5-BP DUP, 3858GGAAT -1 MedGen:C1864908,OMIM:610019 na -1 -1 na na 39606 single nucleotide variant NM_024513.3(FYCO1):c.4127T>C (p.Leu1376Pro) 387906965 MedGen:C1864908,OMIM:610019 3 45972687 45972687 A G 39606 single nucleotide variant NM_024513.3(FYCO1):c.4127T>C (p.Leu1376Pro) 387906965 MedGen:C1864908,OMIM:610019 3 45931195 45931195 A G 39607 single nucleotide variant NM_024513.3(FYCO1):c.1546C>T (p.Gln516Ter) 387906966 MedGen:C1864908,OMIM:610019 3 46009280 46009280 G A 39607 single nucleotide variant NM_024513.3(FYCO1):c.1546C>T (p.Gln516Ter) 387906966 MedGen:C1864908,OMIM:610019 3 45967788 45967788 G A 251148 single nucleotide variant NM_024513.3(FYCO1):c.4086G>A (p.Glu1362=) 137986696 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45972728 45972728 C T 251148 single nucleotide variant NM_024513.3(FYCO1):c.4086G>A (p.Glu1362=) 137986696 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45931236 45931236 C T 251149 single nucleotide variant NM_024513.3(FYCO1):c.3924C>T (p.Leu1308=) 1463680 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45955269 45955269 G A 251149 single nucleotide variant NM_024513.3(FYCO1):c.3924C>T (p.Leu1308=) 1463680 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45996761 45996761 G A 251150 single nucleotide variant NM_024513.3(FYCO1):c.3705C>A (p.Gly1235=) 367690473 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45958502 45958502 G T 251150 single nucleotide variant NM_024513.3(FYCO1):c.3705C>A (p.Gly1235=) 367690473 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45999994 45999994 G T 251151 single nucleotide variant NM_024513.3(FYCO1):c.3587+15C>T 13069079 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45959378 45959378 G A 251151 single nucleotide variant NM_024513.3(FYCO1):c.3587+15C>T 13069079 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46000870 46000870 G A 251152 single nucleotide variant NM_024513.3(FYCO1):c.3419G>A (p.Arg1140Gln) 41289620 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46003735 46003735 C T 251152 single nucleotide variant NM_024513.3(FYCO1):c.3419G>A (p.Arg1140Gln) 41289620 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45962243 45962243 C T 251153 single nucleotide variant NM_024513.3(FYCO1):c.3330C>T (p.Cys1110=) 764164884 MedGen:CN169374 3 45962332 45962332 G A 251153 single nucleotide variant NM_024513.3(FYCO1):c.3330C>T (p.Cys1110=) 764164884 MedGen:CN169374 3 46003824 46003824 G A 251154 single nucleotide variant NM_024513.3(FYCO1):c.3003C>A (p.Asn1001Lys) 13079478 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45966331 45966331 G T 251154 single nucleotide variant NM_024513.3(FYCO1):c.3003C>A (p.Asn1001Lys) 13079478 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46007823 46007823 G T 251155 indel NM_024513.3(FYCO1):c.3001_3003delAACinsGAA (p.Asn1001Glu) 71622515 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46007823 46007825 GTT TTC 251155 indel NM_024513.3(FYCO1):c.3001_3003delAACinsGAA (p.Asn1001Glu) 71622515 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45966331 45966333 GTT TTC 251156 single nucleotide variant NM_024513.3(FYCO1):c.3001A>G (p.Asn1001Asp) 13059238 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46007825 46007825 T C 251156 single nucleotide variant NM_024513.3(FYCO1):c.3001A>G (p.Asn1001Asp) 13059238 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45966333 45966333 T C 251157 single nucleotide variant NM_024513.3(FYCO1):c.2980G>A (p.Glu994Lys) 34801630 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45966354 45966354 C T 251157 single nucleotide variant NM_024513.3(FYCO1):c.2980G>A (p.Glu994Lys) 34801630 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46007846 46007846 C T 251158 single nucleotide variant NM_024513.3(FYCO1):c.2739C>T (p.Cys913=) 13079869 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45966595 45966595 G A 251158 single nucleotide variant NM_024513.3(FYCO1):c.2739C>T (p.Cys913=) 13079869 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46008087 46008087 G A 251159 single nucleotide variant NM_024513.3(FYCO1):c.2036C>T (p.Ala679Val) 3796375 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46008790 46008790 G A 251159 single nucleotide variant NM_024513.3(FYCO1):c.2036C>T (p.Ala679Val) 3796375 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45967298 45967298 G A 251160 single nucleotide variant NM_024513.3(FYCO1):c.1843C>T (p.Arg615Trp) 149507450 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46008983 46008983 G A 251160 single nucleotide variant NM_024513.3(FYCO1):c.1843C>T (p.Arg615Trp) 149507450 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45967491 45967491 G A 251161 single nucleotide variant NM_024513.3(FYCO1):c.1339C>T (p.Arg447Cys) 33910087 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46009487 46009487 G A 251161 single nucleotide variant NM_024513.3(FYCO1):c.1339C>T (p.Arg447Cys) 33910087 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45967995 45967995 G A 251162 single nucleotide variant NM_024513.3(FYCO1):c.1335G>A (p.Leu445=) 3796376 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45967999 45967999 C T 251162 single nucleotide variant NM_024513.3(FYCO1):c.1335G>A (p.Leu445=) 3796376 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46009491 46009491 C T 251163 single nucleotide variant NM_024513.3(FYCO1):c.1206G>A (p.Glu402=) 34147726 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45968128 45968128 C T 251163 single nucleotide variant NM_024513.3(FYCO1):c.1206G>A (p.Glu402=) 34147726 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46009620 46009620 C T 251164 single nucleotide variant NM_024513.3(FYCO1):c.962G>C (p.Gly321Ala) 3733100 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46009864 46009864 C G 251164 single nucleotide variant NM_024513.3(FYCO1):c.962G>C (p.Gly321Ala) 3733100 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45968372 45968372 C G 251165 single nucleotide variant NM_024513.3(FYCO1):c.819A>G (p.Gln273=) 13071283 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46010007 46010007 T C 251165 single nucleotide variant NM_024513.3(FYCO1):c.819A>G (p.Gln273=) 13071283 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45968515 45968515 T C 251166 single nucleotide variant NM_024513.3(FYCO1):c.749G>A (p.Arg250Gln) 4683158 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46010077 46010077 C T 251166 single nucleotide variant NM_024513.3(FYCO1):c.749G>A (p.Arg250Gln) 4683158 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45968585 45968585 C T 251167 single nucleotide variant NM_024513.3(FYCO1):c.289-14T>A 751552 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46016851 46016851 A T 251167 single nucleotide variant NM_024513.3(FYCO1):c.289-14T>A 751552 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45975359 45975359 A T 251168 single nucleotide variant NM_024513.3(FYCO1):c.267C>A (p.Arg89=) 4682801 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 45979726 45979726 G T 251168 single nucleotide variant NM_024513.3(FYCO1):c.267C>A (p.Arg89=) 4682801 Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:CN169374 3 46021218 46021218 G T 290588 single nucleotide variant NM_024513.3(FYCO1):c.*3527G>A 756372595 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918238 45918238 C T 290588 single nucleotide variant NM_024513.3(FYCO1):c.*3527G>A 756372595 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959730 45959730 C T 290594 single nucleotide variant NM_024513.3(FYCO1):c.*3498A>G 7129 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918267 45918267 T C 290594 single nucleotide variant NM_024513.3(FYCO1):c.*3498A>G 7129 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959759 45959759 T C 290595 single nucleotide variant NM_024513.3(FYCO1):c.*3191G>A 886058552 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918574 45918574 C T 290595 single nucleotide variant NM_024513.3(FYCO1):c.*3191G>A 886058552 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960066 45960066 C T 290602 single nucleotide variant NM_024513.3(FYCO1):c.*2757C>A 186073318 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919008 45919008 G T 290602 single nucleotide variant NM_024513.3(FYCO1):c.*2757C>A 186073318 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960500 45960500 G T 290603 insertion NM_024513.3(FYCO1):c.*2695_*2696insT 145514188 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919069 45919070 - A 290603 insertion NM_024513.3(FYCO1):c.*2695_*2696insT 145514188 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960561 45960562 - A 290606 single nucleotide variant NM_024513.3(FYCO1):c.*2060C>A 75347427 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961197 45961197 G T 290606 single nucleotide variant NM_024513.3(FYCO1):c.*2060C>A 75347427 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919705 45919705 G T 290607 deletion NM_024513.3(FYCO1):c.*1809_*1811delATC 756133866 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961446 45961448 GAT - 290607 deletion NM_024513.3(FYCO1):c.*1809_*1811delATC 756133866 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919954 45919956 GAT - 290608 single nucleotide variant NM_024513.3(FYCO1):c.*1748C>T 149016664 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920017 45920017 G A 290608 single nucleotide variant NM_024513.3(FYCO1):c.*1748C>T 149016664 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961509 45961509 G A 290612 single nucleotide variant NM_024513.3(FYCO1):c.*1445C>T 143753654 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920320 45920320 G A 290612 single nucleotide variant NM_024513.3(FYCO1):c.*1445C>T 143753654 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961812 45961812 G A 290615 single nucleotide variant NM_024513.3(FYCO1):c.*1285G>C 780841652 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920480 45920480 C G 290615 single nucleotide variant NM_024513.3(FYCO1):c.*1285G>C 780841652 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961972 45961972 C G 290616 single nucleotide variant NM_024513.3(FYCO1):c.*1056C>T 114644287 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920709 45920709 G A 290616 single nucleotide variant NM_024513.3(FYCO1):c.*1056C>T 114644287 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962201 45962201 G A 290625 single nucleotide variant NM_024513.3(FYCO1):c.*709C>T 559852330 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921056 45921056 G A 290625 single nucleotide variant NM_024513.3(FYCO1):c.*709C>T 559852330 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962548 45962548 G A 290627 single nucleotide variant NM_024513.3(FYCO1):c.*191G>A 111480321 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921574 45921574 C T 290627 single nucleotide variant NM_024513.3(FYCO1):c.*191G>A 111480321 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45963066 45963066 C T 290628 single nucleotide variant NM_024513.3(FYCO1):c.*176C>T 544729621 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921589 45921589 G A 290628 single nucleotide variant NM_024513.3(FYCO1):c.*176C>T 544729621 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45963081 45963081 G A 290632 single nucleotide variant NM_024513.3(FYCO1):c.*21C>T 145828463 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921744 45921744 G A 290632 single nucleotide variant NM_024513.3(FYCO1):c.*21C>T 145828463 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45963236 45963236 G A 290635 single nucleotide variant NM_024513.3(FYCO1):c.4319C>T (p.Thr1440Ile) 41289612 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45923698 45923698 G A 290635 single nucleotide variant NM_024513.3(FYCO1):c.4319C>T (p.Thr1440Ile) 41289612 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45965190 45965190 G A 290636 single nucleotide variant NM_024513.3(FYCO1):c.4078T>C (p.Phe1360Leu) 886058564 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45931244 45931244 A G 290636 single nucleotide variant NM_024513.3(FYCO1):c.4078T>C (p.Phe1360Leu) 886058564 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45972736 45972736 A G 290638 single nucleotide variant NM_024513.3(FYCO1):c.3413A>G (p.Glu1138Gly) 886058566 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962249 45962249 T C 290638 single nucleotide variant NM_024513.3(FYCO1):c.3413A>G (p.Glu1138Gly) 886058566 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46003741 46003741 T C 290640 single nucleotide variant NM_024513.3(FYCO1):c.3234C>A (p.Asp1078Glu) 6795530 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46005863 46005863 G T 290640 single nucleotide variant NM_024513.3(FYCO1):c.3234C>A (p.Asp1078Glu) 6795530 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45964371 45964371 G T 290641 single nucleotide variant NM_024513.3(FYCO1):c.2399G>A (p.Arg800Gln) 773582689 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966935 45966935 C T 290641 single nucleotide variant NM_024513.3(FYCO1):c.2399G>A (p.Arg800Gln) 773582689 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008427 46008427 C T 290644 single nucleotide variant NM_024513.3(FYCO1):c.2179C>A (p.His727Asn) 36014492 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967155 45967155 G T 290644 single nucleotide variant NM_024513.3(FYCO1):c.2179C>A (p.His727Asn) 36014492 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008647 46008647 G T 290645 single nucleotide variant NM_024513.3(FYCO1):c.1765G>A (p.Glu589Lys) 886058568 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967569 45967569 C T 290645 single nucleotide variant NM_024513.3(FYCO1):c.1765G>A (p.Glu589Lys) 886058568 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009061 46009061 C T 290652 deletion NM_024513.3(FYCO1):c.1628_1629delAA (p.Lys543Argfs) 766571780 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967705 45967706 TT - 290652 deletion NM_024513.3(FYCO1):c.1628_1629delAA (p.Lys543Argfs) 766571780 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009197 46009198 TT - 290653 single nucleotide variant NM_024513.3(FYCO1):c.1464A>T (p.Ala488=) 886058569 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967870 45967870 T A 290653 single nucleotide variant NM_024513.3(FYCO1):c.1464A>T (p.Ala488=) 886058569 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009362 46009362 T A 290663 single nucleotide variant NM_024513.3(FYCO1):c.1325G>A (p.Arg442Gln) 116404907 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968009 45968009 C T 290663 single nucleotide variant NM_024513.3(FYCO1):c.1325G>A (p.Arg442Gln) 116404907 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009501 46009501 C T 290666 single nucleotide variant NM_024513.3(FYCO1):c.1142C>T (p.Thr381Met) 3733101 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968192 45968192 G A 290666 single nucleotide variant NM_024513.3(FYCO1):c.1142C>T (p.Thr381Met) 3733101 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009684 46009684 G A 290670 single nucleotide variant NM_024513.3(FYCO1):c.1121T>C (p.Met374Thr) 139604029 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968213 45968213 A G 290670 single nucleotide variant NM_024513.3(FYCO1):c.1121T>C (p.Met374Thr) 139604029 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009705 46009705 A G 290675 single nucleotide variant NM_024513.3(FYCO1):c.325C>T (p.Arg109Cys) 886058571 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45975309 45975309 G A 290675 single nucleotide variant NM_024513.3(FYCO1):c.325C>T (p.Arg109Cys) 886058571 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46016801 46016801 G A 291470 single nucleotide variant NM_024513.3(FYCO1):c.*3725A>G 547425913 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918040 45918040 T C 291470 single nucleotide variant NM_024513.3(FYCO1):c.*3725A>G 547425913 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959532 45959532 T C 291471 single nucleotide variant NM_024513.3(FYCO1):c.*3439A>T 113723273 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918326 45918326 T A 291471 single nucleotide variant NM_024513.3(FYCO1):c.*3439A>T 113723273 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959818 45959818 T A 291472 single nucleotide variant NM_024513.3(FYCO1):c.*3366T>G 886058550 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918399 45918399 A C 291472 single nucleotide variant NM_024513.3(FYCO1):c.*3366T>G 886058550 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959891 45959891 A C 291474 single nucleotide variant NM_024513.3(FYCO1):c.*3178G>T 1047444 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918587 45918587 C A 291474 single nucleotide variant NM_024513.3(FYCO1):c.*3178G>T 1047444 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960079 45960079 C A 291476 single nucleotide variant NM_024513.3(FYCO1):c.*3057G>A 537667165 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918708 45918708 C T 291476 single nucleotide variant NM_024513.3(FYCO1):c.*3057G>A 537667165 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960200 45960200 C T 291482 single nucleotide variant NM_024513.3(FYCO1):c.*2889C>A 886058553 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918876 45918876 G T 291482 single nucleotide variant NM_024513.3(FYCO1):c.*2889C>A 886058553 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960368 45960368 G T 291488 single nucleotide variant NM_024513.3(FYCO1):c.*2851C>T 182350140 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918914 45918914 G A 291488 single nucleotide variant NM_024513.3(FYCO1):c.*2851C>T 182350140 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960406 45960406 G A 291501 single nucleotide variant NM_024513.3(FYCO1):c.*2741G>A 886058554 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919024 45919024 C T 291501 single nucleotide variant NM_024513.3(FYCO1):c.*2741G>A 886058554 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960516 45960516 C T 291502 insertion NM_024513.3(FYCO1):c.*2695_*2696insTT 145514188 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919069 45919070 - AA 291502 insertion NM_024513.3(FYCO1):c.*2695_*2696insTT 145514188 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960561 45960562 - AA 291503 deletion NM_024513.3(FYCO1):c.*2694delT 879133948 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919071 45919071 A - 291503 deletion NM_024513.3(FYCO1):c.*2694delT 879133948 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960563 45960563 A - 291505 single nucleotide variant NM_024513.3(FYCO1):c.*2406G>A 3796373 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960851 45960851 C T 291505 single nucleotide variant NM_024513.3(FYCO1):c.*2406G>A 3796373 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919359 45919359 C T 291508 single nucleotide variant NM_024513.3(FYCO1):c.*2286T>C 886058557 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960971 45960971 A G 291508 single nucleotide variant NM_024513.3(FYCO1):c.*2286T>C 886058557 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919479 45919479 A G 291509 single nucleotide variant NM_024513.3(FYCO1):c.*1655A>G 886058558 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920110 45920110 T C 291509 single nucleotide variant NM_024513.3(FYCO1):c.*1655A>G 886058558 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961602 45961602 T C 291510 single nucleotide variant NM_024513.3(FYCO1):c.*1303C>G 60431156 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920462 45920462 G C 291510 single nucleotide variant NM_024513.3(FYCO1):c.*1303C>G 60431156 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961954 45961954 G C 291516 single nucleotide variant NM_024513.3(FYCO1):c.*1235C>A 886058560 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920530 45920530 G T 291516 single nucleotide variant NM_024513.3(FYCO1):c.*1235C>A 886058560 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962022 45962022 G T 291517 single nucleotide variant NM_024513.3(FYCO1):c.*724C>A 148133261 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921041 45921041 G T 291517 single nucleotide variant NM_024513.3(FYCO1):c.*724C>A 148133261 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962533 45962533 G T 291519 single nucleotide variant NM_024513.3(FYCO1):c.*505A>G 7652331 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921260 45921260 T C 291519 single nucleotide variant NM_024513.3(FYCO1):c.*505A>G 7652331 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962752 45962752 T C 291521 single nucleotide variant NM_024513.3(FYCO1):c.*466C>T 73830632 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921299 45921299 G A 291521 single nucleotide variant NM_024513.3(FYCO1):c.*466C>T 73830632 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962791 45962791 G A 291527 single nucleotide variant NM_024513.3(FYCO1):c.*132C>T 886058563 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921633 45921633 G A 291527 single nucleotide variant NM_024513.3(FYCO1):c.*132C>T 886058563 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45963125 45963125 G A 291543 single nucleotide variant NM_024513.3(FYCO1):c.4394C>T (p.Thr1465Met) 201764993 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921808 45921808 G A 291543 single nucleotide variant NM_024513.3(FYCO1):c.4394C>T (p.Thr1465Met) 201764993 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45963300 45963300 G A 291545 single nucleotide variant NM_024513.3(FYCO1):c.4042A>G (p.Ile1348Val) 886058565 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45931280 45931280 T C 291545 single nucleotide variant NM_024513.3(FYCO1):c.4042A>G (p.Ile1348Val) 886058565 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45972772 45972772 T C 291548 single nucleotide variant NM_024513.3(FYCO1):c.3789A>G (p.Thr1263=) 41289618 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45958418 45958418 T C 291548 single nucleotide variant NM_024513.3(FYCO1):c.3789A>G (p.Thr1263=) 41289618 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45999910 45999910 T C 291554 single nucleotide variant NM_024513.3(FYCO1):c.2932C>G (p.Leu978Val) 886058567 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46007894 46007894 G C 291554 single nucleotide variant NM_024513.3(FYCO1):c.2932C>G (p.Leu978Val) 886058567 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966402 45966402 G C 291555 single nucleotide variant NM_024513.3(FYCO1):c.2552G>A (p.Arg851His) 145893350 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008274 46008274 C T 291555 single nucleotide variant NM_024513.3(FYCO1):c.2552G>A (p.Arg851His) 145893350 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966782 45966782 C T 291564 single nucleotide variant NM_024513.3(FYCO1):c.1985C>T (p.Ser662Phe) 150785981 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967349 45967349 G A 291564 single nucleotide variant NM_024513.3(FYCO1):c.1985C>T (p.Ser662Phe) 150785981 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008841 46008841 G A 291565 single nucleotide variant NM_024513.3(FYCO1):c.1887C>T (p.Val629=) 140372149 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967447 45967447 G A 291565 single nucleotide variant NM_024513.3(FYCO1):c.1887C>T (p.Val629=) 140372149 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008939 46008939 G A 291572 single nucleotide variant NM_024513.3(FYCO1):c.1549T>A (p.Phe517Ile) 148594622 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009277 46009277 A T 291572 single nucleotide variant NM_024513.3(FYCO1):c.1549T>A (p.Phe517Ile) 148594622 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967785 45967785 A T 291589 single nucleotide variant NM_024513.3(FYCO1):c.1474C>T (p.Arg492Trp) 143704916 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967860 45967860 G A 291589 single nucleotide variant NM_024513.3(FYCO1):c.1474C>T (p.Arg492Trp) 143704916 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009352 46009352 G A 291592 single nucleotide variant NM_024513.3(FYCO1):c.1098C>T (p.Ala366=) 201904937 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968236 45968236 G A 291592 single nucleotide variant NM_024513.3(FYCO1):c.1098C>T (p.Ala366=) 201904937 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009728 46009728 G A 291603 single nucleotide variant NM_024513.3(FYCO1):c.1015C>G (p.Arg339Gly) 376685114 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968319 45968319 G C 291603 single nucleotide variant NM_024513.3(FYCO1):c.1015C>G (p.Arg339Gly) 376685114 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009811 46009811 G C 291606 single nucleotide variant NM_024513.3(FYCO1):c.868C>T (p.Arg290Cys) 760164181 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968466 45968466 G A 291606 single nucleotide variant NM_024513.3(FYCO1):c.868C>T (p.Arg290Cys) 760164181 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009958 46009958 G A 291607 single nucleotide variant NM_024513.3(FYCO1):c.753G>T (p.Glu251Asp) 3821885 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968581 45968581 C A 291607 single nucleotide variant NM_024513.3(FYCO1):c.753G>T (p.Glu251Asp) 3821885 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46010073 46010073 C A 291608 single nucleotide variant NM_024513.3(FYCO1):c.647C>T (p.Ser216Phe) 140002692 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968687 45968687 G A 291608 single nucleotide variant NM_024513.3(FYCO1):c.647C>T (p.Ser216Phe) 140002692 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46010179 46010179 G A 294729 single nucleotide variant NM_024513.3(FYCO1):c.*2307C>G 886058555 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960950 45960950 G C 294729 single nucleotide variant NM_024513.3(FYCO1):c.*2307C>G 886058555 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919458 45919458 G C 294724 duplication NM_024513.3(FYCO1):c.*2693_*2694dupTT 58827981 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919071 45919072 AA AAAA 294724 duplication NM_024513.3(FYCO1):c.*2693_*2694dupTT 58827981 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960563 45960564 AA AAAA 294727 single nucleotide variant NM_024513.3(FYCO1):c.*2611A>G 1994492 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919154 45919154 T C 294727 single nucleotide variant NM_024513.3(FYCO1):c.*2611A>G 1994492 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960646 45960646 T C 294728 single nucleotide variant NM_024513.3(FYCO1):c.*2557G>A 1994493 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919208 45919208 C T 294728 single nucleotide variant NM_024513.3(FYCO1):c.*2557G>A 1994493 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960700 45960700 C T 294731 single nucleotide variant NM_024513.3(FYCO1):c.*1185A>T 538032998 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920580 45920580 T A 294731 single nucleotide variant NM_024513.3(FYCO1):c.*1185A>T 538032998 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962072 45962072 T A 294746 single nucleotide variant NM_024513.3(FYCO1):c.*810G>A 778420399 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920955 45920955 C T 294746 single nucleotide variant NM_024513.3(FYCO1):c.*810G>A 778420399 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962447 45962447 C T 294747 single nucleotide variant NM_024513.3(FYCO1):c.*678A>G 141954427 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921087 45921087 T C 294747 single nucleotide variant NM_024513.3(FYCO1):c.*678A>G 141954427 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962579 45962579 T C 294751 single nucleotide variant NM_024513.3(FYCO1):c.*654T>C 75928798 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921111 45921111 A G 294751 single nucleotide variant NM_024513.3(FYCO1):c.*654T>C 75928798 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962603 45962603 A G 294752 single nucleotide variant NM_024513.3(FYCO1):c.*455A>G 6441934 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921310 45921310 T C 294752 single nucleotide variant NM_024513.3(FYCO1):c.*455A>G 6441934 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962802 45962802 T C 294753 single nucleotide variant NM_024513.3(FYCO1):c.*308A>G 2291471 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921457 45921457 T C 294753 single nucleotide variant NM_024513.3(FYCO1):c.*308A>G 2291471 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962949 45962949 T C 294763 single nucleotide variant NM_024513.3(FYCO1):c.3993C>T (p.Pro1331=) 752606656 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45936495 45936495 G A 294763 single nucleotide variant NM_024513.3(FYCO1):c.3993C>T (p.Pro1331=) 752606656 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45977987 45977987 G A 294766 single nucleotide variant NM_024513.3(FYCO1):c.2815G>C (p.Ala939Pro) 531750827 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008011 46008011 C G 294766 single nucleotide variant NM_024513.3(FYCO1):c.2815G>C (p.Ala939Pro) 531750827 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966519 45966519 C G 294767 single nucleotide variant NM_024513.3(FYCO1):c.2718T>C (p.Ala906=) 114548859 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008108 46008108 A G 294767 single nucleotide variant NM_024513.3(FYCO1):c.2718T>C (p.Ala906=) 114548859 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966616 45966616 A G 294770 single nucleotide variant NM_024513.3(FYCO1):c.2200G>C (p.Glu734Gln) 750356269 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967134 45967134 C G 294770 single nucleotide variant NM_024513.3(FYCO1):c.2200G>C (p.Glu734Gln) 750356269 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008626 46008626 C G 294772 single nucleotide variant NM_024513.3(FYCO1):c.2006G>A (p.Ser669Asn) 141155944 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967328 45967328 C T 294772 single nucleotide variant NM_024513.3(FYCO1):c.2006G>A (p.Ser669Asn) 141155944 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008820 46008820 C T 294775 single nucleotide variant NM_024513.3(FYCO1):c.1933G>A (p.Asp645Asn) 145238648 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967401 45967401 C T 294775 single nucleotide variant NM_024513.3(FYCO1):c.1933G>A (p.Asp645Asn) 145238648 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008893 46008893 C T 294776 single nucleotide variant NM_024513.3(FYCO1):c.1676C>T (p.Pro559Leu) 759805930 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967658 45967658 G A 294776 single nucleotide variant NM_024513.3(FYCO1):c.1676C>T (p.Pro559Leu) 759805930 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009150 46009150 G A 294777 single nucleotide variant NM_024513.3(FYCO1):c.1248G>A (p.Lys416=) 149643762 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968086 45968086 C T 294777 single nucleotide variant NM_024513.3(FYCO1):c.1248G>A (p.Lys416=) 149643762 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009578 46009578 C T 294780 single nucleotide variant NM_024513.3(FYCO1):c.1144G>A (p.Ala382Thr) 886058570 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968190 45968190 C T 294780 single nucleotide variant NM_024513.3(FYCO1):c.1144G>A (p.Ala382Thr) 886058570 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009682 46009682 C T 294781 single nucleotide variant NM_024513.3(FYCO1):c.844C>T (p.Arg282Cys) 201358723 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968490 45968490 G A 294781 single nucleotide variant NM_024513.3(FYCO1):c.844C>T (p.Arg282Cys) 201358723 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009982 46009982 G A 294782 single nucleotide variant NM_024513.3(FYCO1):c.713A>C (p.Glu238Ala) 117543659 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968621 45968621 T G 294782 single nucleotide variant NM_024513.3(FYCO1):c.713A>C (p.Glu238Ala) 117543659 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46010113 46010113 T G 294785 single nucleotide variant NM_024513.3(FYCO1):c.150G>A (p.Glu50=) 886058572 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45981582 45981582 C T 294785 single nucleotide variant NM_024513.3(FYCO1):c.150G>A (p.Glu50=) 886058572 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46023074 46023074 C T 294787 single nucleotide variant NM_024513.3(FYCO1):c.-214C>T 576623682 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45995823 45995823 G A 294787 single nucleotide variant NM_024513.3(FYCO1):c.-214C>T 576623682 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46037315 46037315 G A 295094 single nucleotide variant NM_024513.3(FYCO1):c.*3742T>A 7130 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918023 45918023 A T 295094 single nucleotide variant NM_024513.3(FYCO1):c.*3742T>A 7130 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959515 45959515 A T 295095 single nucleotide variant NM_024513.3(FYCO1):c.*3502A>T 753979161 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918263 45918263 T A 295095 single nucleotide variant NM_024513.3(FYCO1):c.*3502A>T 753979161 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959755 45959755 T A 295099 single nucleotide variant NM_024513.3(FYCO1):c.*3283G>A 886058551 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918482 45918482 C T 295099 single nucleotide variant NM_024513.3(FYCO1):c.*3283G>A 886058551 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45959974 45959974 C T 295105 deletion NM_024513.3(FYCO1):c.*3257delT 11349487 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918508 45918508 A - 295105 deletion NM_024513.3(FYCO1):c.*3257delT 11349487 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960000 45960000 A - 295106 single nucleotide variant NM_024513.3(FYCO1):c.*2837C>G 1994491 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45918928 45918928 G C 295106 single nucleotide variant NM_024513.3(FYCO1):c.*2837C>G 1994491 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960420 45960420 G C 295113 single nucleotide variant NM_024513.3(FYCO1):c.*2695A>T 61519998 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919070 45919070 T A 295113 single nucleotide variant NM_024513.3(FYCO1):c.*2695A>T 61519998 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960562 45960562 T A 295114 single nucleotide variant NM_024513.3(FYCO1):c.*2301A>G 886058556 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45960956 45960956 T C 295114 single nucleotide variant NM_024513.3(FYCO1):c.*2301A>G 886058556 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45919464 45919464 T C 295123 deletion NM_024513.3(FYCO1):c.*1499delT 886058559 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920266 45920266 A - 295123 deletion NM_024513.3(FYCO1):c.*1499delT 886058559 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961758 45961758 A - 295130 single nucleotide variant NM_024513.3(FYCO1):c.*1415G>A 1488374 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920350 45920350 C T 295130 single nucleotide variant NM_024513.3(FYCO1):c.*1415G>A 1488374 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45961842 45961842 C T 295131 single nucleotide variant NM_024513.3(FYCO1):c.*1173C>T 187327525 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920592 45920592 G A 295131 single nucleotide variant NM_024513.3(FYCO1):c.*1173C>T 187327525 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962084 45962084 G A 295137 single nucleotide variant NM_024513.3(FYCO1):c.*1149C>G 886058561 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45920616 45920616 G C 295137 single nucleotide variant NM_024513.3(FYCO1):c.*1149C>G 886058561 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962108 45962108 G C 295144 single nucleotide variant NM_024513.3(FYCO1):c.*662G>C 3733103 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921103 45921103 C G 295144 single nucleotide variant NM_024513.3(FYCO1):c.*662G>C 3733103 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962595 45962595 C G 295147 single nucleotide variant NM_024513.3(FYCO1):c.*620G>A 886058562 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921145 45921145 C T 295147 single nucleotide variant NM_024513.3(FYCO1):c.*620G>A 886058562 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962637 45962637 C T 295148 single nucleotide variant NM_024513.3(FYCO1):c.*315G>A 2291470 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45921450 45921450 C T 295148 single nucleotide variant NM_024513.3(FYCO1):c.*315G>A 2291470 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962942 45962942 C T 295160 single nucleotide variant NM_024513.3(FYCO1):c.4321C>A (p.Pro1441Thr) 185127002 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45923696 45923696 G T 295160 single nucleotide variant NM_024513.3(FYCO1):c.4321C>A (p.Pro1441Thr) 185127002 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45965188 45965188 G T 295162 single nucleotide variant NM_024513.3(FYCO1):c.3935C>T (p.Ala1312Val) 140583635 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45955258 45955258 G A 295162 single nucleotide variant NM_024513.3(FYCO1):c.3935C>T (p.Ala1312Val) 140583635 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45996750 45996750 G A 295166 single nucleotide variant NM_024513.3(FYCO1):c.3825G>A (p.Pro1275=) 748985200 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45955368 45955368 C T 295166 single nucleotide variant NM_024513.3(FYCO1):c.3825G>A (p.Pro1275=) 748985200 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45996860 45996860 C T 295167 single nucleotide variant NM_024513.3(FYCO1):c.3322A>G (p.Lys1108Glu) 73830668 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45962340 45962340 T C 295167 single nucleotide variant NM_024513.3(FYCO1):c.3322A>G (p.Lys1108Glu) 73830668 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46003832 46003832 T C 295168 single nucleotide variant NM_024513.3(FYCO1):c.2806G>A (p.Ala936Thr) 149818737 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008020 46008020 C T 295168 single nucleotide variant NM_024513.3(FYCO1):c.2806G>A (p.Ala936Thr) 149818737 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45966528 45966528 C T 295170 single nucleotide variant NM_024513.3(FYCO1):c.2109G>A (p.Gln703=) 766375149 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967225 45967225 C T 295170 single nucleotide variant NM_024513.3(FYCO1):c.2109G>A (p.Gln703=) 766375149 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008717 46008717 C T 295177 single nucleotide variant NM_024513.3(FYCO1):c.2037G>A (p.Ala679=) 373400491 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45967297 45967297 C T 295177 single nucleotide variant NM_024513.3(FYCO1):c.2037G>A (p.Ala679=) 373400491 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46008789 46008789 C T 295181 single nucleotide variant NM_024513.3(FYCO1):c.869G>A (p.Arg290His) 146311777 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968465 45968465 C T 295181 single nucleotide variant NM_024513.3(FYCO1):c.869G>A (p.Arg290His) 146311777 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009957 46009957 C T 295183 single nucleotide variant NM_024513.3(FYCO1):c.845G>A (p.Arg282His) 9875356 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968489 45968489 C T 295183 single nucleotide variant NM_024513.3(FYCO1):c.845G>A (p.Arg282His) 9875356 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009981 46009981 C T 295189 single nucleotide variant NM_024513.3(FYCO1):c.833G>A (p.Arg278Lys) 753095430 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968501 45968501 C T 295189 single nucleotide variant NM_024513.3(FYCO1):c.833G>A (p.Arg278Lys) 753095430 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46009993 46009993 C T 295190 single nucleotide variant NM_024513.3(FYCO1):c.748C>T (p.Arg250Trp) 142017802 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 46010078 46010078 G A 295190 single nucleotide variant NM_024513.3(FYCO1):c.748C>T (p.Arg250Trp) 142017802 Human Phenotype Ontology:HP:0000519,MedGen:C1842324 3 45968586 45968586 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 3 45962752 rs7652331 T C rs7652331 4.47E-05 Prostate cancer HPOID:0012125 DOID:10283 T UTR-3 GWASdb_trait 3 45962752 rs7652331 T C rs7652331 4.97E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T UTR-3 GWASdb_trait 3 45978473 rs11130079 A G rs11130079 1.05E-04 HIV-1 viral setpoint HPOID:0002721 DOID:526 G intron GWASdb_trait 3 45996501 rs4388012 A G rs4388012 3.56E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 3 46005478 rs1545985 G A rs1545985 6.61E-06 Prostate cancer HPOID:0012125 DOID:10283 G intron GWASdb_trait 3 46005478 rs1545985 G A rs1545985 5.83E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 3 46007488 rs13078739 G A rs13078739 2.87E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 3 46025013 rs4683159 A G rs4683159 9.39E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 3 46025048 rs13075758 G A rs13075758 0.0000168 Primary sclerosing cholangitis HPOID:0001080 DOID:14268 G intron GWASdb_trait 3 46025518 rs11130082 T C rs11130082 9.44E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 3 46026699 rs13086858 C A rs13086858 9.51E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 3 46026699 rs13086858 C A rs13086858 5.57E-04 Smoking cessation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 3 46029271 rs7653682 A G rs7653682 6.96E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 3 46029458 rs1873000 G C rs1873000 9.57E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 3 46030003 rs7628447 C T rs7628447 9.58E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 T intron GWASdb_trait 3 46031957 rs2133660 C T rs2133660 8.02E-05 Behcet's disease HPOID:0011955 DOID:13241 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000163820.14 FYCO1 607182