| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 17278 | duplication | NM_000433.3(NCF2):c.399_400dupGA (p.Lys134Argfs) | 796065030 | MedGen:C1856245,OMIM:233710 | 1 | 183543723 | 183543724 | TC | TCTC |
| 17278 | duplication | NM_000433.3(NCF2):c.399_400dupGA (p.Lys134Argfs) | 796065030 | MedGen:C1856245,OMIM:233710 | 1 | 183574588 | 183574589 | TC | TCTC |
| 17279 | single nucleotide variant | NM_000433.3(NCF2):c.479A>T (p.Asp160Val) | 267606912 | MedGen:C1856245,OMIM:233710 | 1 | 183543644 | 183543644 | T | A |
| 17279 | single nucleotide variant | NM_000433.3(NCF2):c.479A>T (p.Asp160Val) | 267606912 | MedGen:C1856245,OMIM:233710 | 1 | 183574509 | 183574509 | T | A |
| 17280 | single nucleotide variant | NM_000433.3(NCF2):c.304C>T (p.Arg102Ter) | 374402066 | MedGen:C1856245,OMIM:233710 | 1 | 183546796 | 183546796 | G | A |
| 17280 | single nucleotide variant | NM_000433.3(NCF2):c.304C>T (p.Arg102Ter) | 374402066 | MedGen:C1856245,OMIM:233710 | 1 | 183577661 | 183577661 | G | A |
| 17281 | deletion | NM_000433.3(NCF2):c.1171_1175delAAGCT (p.Lys391Glufs) | 796065031 | MedGen:C1856245,OMIM:233710 | 1 | 183532572 | 183532576 | AGCTT | - |
| 17281 | deletion | NM_000433.3(NCF2):c.1171_1175delAAGCT (p.Lys391Glufs) | 796065031 | MedGen:C1856245,OMIM:233710 | 1 | 183563437 | 183563441 | AGCTT | - |
| 17282 | single nucleotide variant | NM_000433.3(NCF2):c.366+1G>A | 796065032 | MedGen:C1856245,OMIM:233710 | 1 | 183546733 | 183546733 | C | T |
| 17282 | single nucleotide variant | NM_000433.3(NCF2):c.366+1G>A | 796065032 | MedGen:C1856245,OMIM:233710 | 1 | 183577598 | 183577598 | C | T |
| 17283 | single nucleotide variant | NM_000433.3(NCF2):c.298C>T (p.Gln100Ter) | 119103276 | MedGen:C1856245,OMIM:233710 | 1 | 183546802 | 183546802 | G | A |
| 17283 | single nucleotide variant | NM_000433.3(NCF2):c.298C>T (p.Gln100Ter) | 119103276 | MedGen:C1856245,OMIM:233710 | 1 | 183577667 | 183577667 | G | A |
| 17284 | deletion | NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) | 796065033 | MedGen:C1856245,OMIM:233710 | 1 | 183559402 | 183559410 | GTCCTTCTT | - |
| 17284 | deletion | NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) | 796065033 | MedGen:C1856245,OMIM:233710 | 1 | 183590267 | 183590275 | GTCCTTCTT | - |
| 17285 | single nucleotide variant | NM_000433.3(NCF2):c.383C>T (p.Ala128Val) | 119103274 | MedGen:C1856245,OMIM:233710 | 1 | 183543740 | 183543740 | G | A |
| 17285 | single nucleotide variant | NM_000433.3(NCF2):c.383C>T (p.Ala128Val) | 119103274 | MedGen:C1856245,OMIM:233710 | 1 | 183574605 | 183574605 | G | A |
| 17286 | single nucleotide variant | NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) | 119103275 | MedGen:C1856245,OMIM:233710 | 1 | 183556057 | 183556057 | C | T |
| 17286 | single nucleotide variant | NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) | 119103275 | MedGen:C1856245,OMIM:233710 | 1 | 183586922 | 183586922 | C | T |
| 17287 | single nucleotide variant | NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) | 13306575 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:C1856245,OMIM:233710 | 1 | 183532437 | 183532437 | G | A |
| 17287 | single nucleotide variant | NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) | 13306575 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:C1856245,OMIM:233710 | 1 | 183563302 | 183563302 | G | A |
| 38423 | single nucleotide variant | NM_000433.3(NCF2):c.481A>G (p.Lys161Glu) | 137878529 | MedGen:C1856245,OMIM:233710 | 1 | 183543642 | 183543642 | T | C |
| 38423 | single nucleotide variant | NM_000433.3(NCF2):c.481A>G (p.Lys161Glu) | 137878529 | MedGen:C1856245,OMIM:233710 | 1 | 183574507 | 183574507 | T | C |
| 79376 | single nucleotide variant | NM_000433.3(NCF2):c.1105G>A (p.Gly369Arg) | 137854513 | MedGen:CN221809 | 1 | 183532642 | 183532642 | C | T |
| 79376 | single nucleotide variant | NM_000433.3(NCF2):c.1105G>A (p.Gly369Arg) | 137854513 | MedGen:CN221809 | 1 | 183563507 | 183563507 | C | T |
| 79377 | single nucleotide variant | NM_000433.3(NCF2):c.125A>G (p.Asn42Ser) | 137854514 | MedGen:C1856245,OMIM:233710 | 1 | 183559340 | 183559340 | T | C |
| 79377 | single nucleotide variant | NM_000433.3(NCF2):c.125A>G (p.Asn42Ser) | 137854514 | MedGen:C1856245,OMIM:233710 | 1 | 183590205 | 183590205 | T | C |
| 79378 | single nucleotide variant | NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) | 137854510 | MedGen:C1856245,OMIM:233710 | 1 | 183559335 | 183559335 | C | G |
| 79378 | single nucleotide variant | NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) | 137854510 | MedGen:C1856245,OMIM:233710 | 1 | 183590200 | 183590200 | C | G |
| 79379 | single nucleotide variant | NM_000433.3(NCF2):c.130G>T (p.Gly44Cys) | 137854510 | MedGen:C1856245,OMIM:233710 | 1 | 183559335 | 183559335 | C | A |
| 79379 | single nucleotide variant | NM_000433.3(NCF2):c.130G>T (p.Gly44Cys) | 137854510 | MedGen:C1856245,OMIM:233710 | 1 | 183590200 | 183590200 | C | A |
| 79380 | single nucleotide variant | NM_000433.3(NCF2):c.233G>A (p.Gly78Glu) | 137854519 | MedGen:C1856245,OMIM:233710 | 1 | 183556054 | 183556054 | C | T |
| 79380 | single nucleotide variant | NM_000433.3(NCF2):c.233G>A (p.Gly78Glu) | 137854519 | MedGen:C1856245,OMIM:233710 | 1 | 183586919 | 183586919 | C | T |
| 79381 | single nucleotide variant | NM_000433.3(NCF2):c.235A>G (p.Met79Val) | 137854512 | MedGen:CN221809 | 1 | 183556052 | 183556052 | T | C |
| 79381 | single nucleotide variant | NM_000433.3(NCF2):c.235A>G (p.Met79Val) | 137854512 | MedGen:CN221809 | 1 | 183586917 | 183586917 | T | C |
| 79382 | single nucleotide variant | NM_000433.3(NCF2):c.279C>G (p.Asp93Glu) | 137854507 | MedGen:C1856245,OMIM:233710 | 1 | 183546821 | 183546821 | G | C |
| 79382 | single nucleotide variant | NM_000433.3(NCF2):c.279C>G (p.Asp93Glu) | 137854507 | MedGen:C1856245,OMIM:233710 | 1 | 183577686 | 183577686 | G | C |
| 79383 | single nucleotide variant | NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) | 137854515 | MedGen:C1856245,OMIM:233710 | 1 | 183546795 | 183546795 | C | G |
| 79383 | single nucleotide variant | NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) | 137854515 | MedGen:C1856245,OMIM:233710 | 1 | 183577660 | 183577660 | C | G |
| 79384 | single nucleotide variant | NM_000433.3(NCF2):c.323A>T (p.Asp108Val) | 137854509 | MedGen:C1856245,OMIM:233710 | 1 | 183546777 | 183546777 | T | A |
| 79384 | single nucleotide variant | NM_000433.3(NCF2):c.323A>T (p.Asp108Val) | 137854509 | MedGen:C1856245,OMIM:233710 | 1 | 183577642 | 183577642 | T | A |
| 79385 | single nucleotide variant | NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) | 137854516 | MedGen:C1856245,OMIM:233710 | 1 | 183543714 | 183543714 | A | T |
| 79385 | single nucleotide variant | NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) | 137854516 | MedGen:C1856245,OMIM:233710 | 1 | 183574579 | 183574579 | A | T |
| 79386 | single nucleotide variant | NM_000433.3(NCF2):c.419C>A (p.Ala140Asp) | 137854520 | MedGen:C1856245,OMIM:233710 | 1 | 183543704 | 183543704 | G | T |
| 79386 | single nucleotide variant | NM_000433.3(NCF2):c.419C>A (p.Ala140Asp) | 137854520 | MedGen:C1856245,OMIM:233710 | 1 | 183574569 | 183574569 | G | T |
| 79387 | single nucleotide variant | NM_000433.3(NCF2):c.505C>G (p.Gln169Glu) | 137854517 | MedGen:C1856245,OMIM:233710 | 1 | 183542424 | 183542424 | G | C |
| 79387 | single nucleotide variant | NM_000433.3(NCF2):c.505C>G (p.Gln169Glu) | 137854517 | MedGen:C1856245,OMIM:233710 | 1 | 183573289 | 183573289 | G | C |
| 79388 | single nucleotide variant | NM_000433.3(NCF2):c.551G>C (p.Arg184Pro) | 137854518 | MedGen:C1856245,OMIM:233710 | 1 | 183542378 | 183542378 | C | G |
| 79388 | single nucleotide variant | NM_000433.3(NCF2):c.551G>C (p.Arg184Pro) | 137854518 | MedGen:C1856245,OMIM:233710 | 1 | 183573243 | 183573243 | C | G |
| 79389 | single nucleotide variant | NM_000433.3(NCF2):c.605C>T (p.Ala202Val) | 137854508 | MedGen:C1856245,OMIM:233710 | 1 | 183542324 | 183542324 | G | A |
| 79389 | single nucleotide variant | NM_000433.3(NCF2):c.605C>T (p.Ala202Val) | 137854508 | MedGen:C1856245,OMIM:233710 | 1 | 183573189 | 183573189 | G | A |
| 79390 | single nucleotide variant | NM_000433.3(NCF2):c.983G>A (p.Arg328Lys) | 137854511 | MedGen:CN221809 | 1 | 183534856 | 183534856 | C | T |
| 79390 | single nucleotide variant | NM_000433.3(NCF2):c.983G>A (p.Arg328Lys) | 137854511 | MedGen:CN221809 | 1 | 183565721 | 183565721 | C | T |
| 194829 | single nucleotide variant | NM_000433.3(NCF2):c.606G>A (p.Ala202=) | 17849501 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183542323 | 183542323 | C | T |
| 194829 | single nucleotide variant | NM_000433.3(NCF2):c.606G>A (p.Ala202=) | 17849501 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183573188 | 183573188 | C | T |
| 194830 | single nucleotide variant | NM_000433.3(NCF2):c.565C>T (p.Gln189Ter) | 755796920 | MedGen:C1856245,OMIM:233710 | 1 | 183542364 | 183542364 | G | A |
| 194830 | single nucleotide variant | NM_000433.3(NCF2):c.565C>T (p.Gln189Ter) | 755796920 | MedGen:C1856245,OMIM:233710 | 1 | 183573229 | 183573229 | G | A |
| 249581 | single nucleotide variant | NM_000433.3(NCF2):c.1167C>A (p.His389Gln) | 17849502 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183563445 | 183563445 | G | T |
| 249581 | single nucleotide variant | NM_000433.3(NCF2):c.1167C>A (p.His389Gln) | 17849502 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183532580 | 183532580 | G | T |
| 249582 | single nucleotide variant | NM_000433.3(NCF2):c.1001-10T>G | 36113295 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183564040 | 183564040 | A | C |
| 249582 | single nucleotide variant | NM_000433.3(NCF2):c.1001-10T>G | 36113295 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183533175 | 183533175 | A | C |
| 249583 | single nucleotide variant | NM_000433.3(NCF2):c.542A>G (p.Lys181Arg) | 2274064 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183573252 | 183573252 | T | C |
| 249583 | single nucleotide variant | NM_000433.3(NCF2):c.542A>G (p.Lys181Arg) | 2274064 | MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 | 1 | 183542387 | 183542387 | T | C |
| 259637 | single nucleotide variant | NM_000433.3(NCF2):c.1524A>C (p.Lys508Asn) | 886039749 | MedGen:CN169374 | 1 | 183525310 | 183525310 | T | G |
| 259637 | single nucleotide variant | NM_000433.3(NCF2):c.1524A>C (p.Lys508Asn) | 886039749 | MedGen:CN169374 | 1 | 183556175 | 183556175 | T | G |
| 265448 | single nucleotide variant | NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) | 35012521 | MedGen:CN169374 | 1 | 183532364 | 183532364 | T | A |
| 265448 | single nucleotide variant | NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) | 35012521 | MedGen:CN169374 | 1 | 183563229 | 183563229 | T | A |
| 265556 | single nucleotide variant | NM_000433.3(NCF2):c.890T>C (p.Val297Ala) | 35937854 | MedGen:CN169374 | 1 | 183536089 | 183536089 | A | G |
| 265556 | single nucleotide variant | NM_000433.3(NCF2):c.890T>C (p.Val297Ala) | 35937854 | MedGen:CN169374 | 1 | 183566954 | 183566954 | A | G |
| 271388 | single nucleotide variant | NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) | 147415774 | MedGen:CN169374 | 1 | 183559352 | 183559352 | C | T |
| 271388 | single nucleotide variant | NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) | 147415774 | MedGen:CN169374 | 1 | 183590217 | 183590217 | C | T |
| 277749 | duplication | NM_000433.3(NCF2):c.*517dupT | 573207861 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524736 | 183524736 | A | AA |
| 277749 | duplication | NM_000433.3(NCF2):c.*517dupT | 573207861 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555601 | 183555601 | A | AA |
| 277751 | duplication | NM_000433.3(NCF2):c.*508_*512dupGGTTA | 555649211 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555606 | 183555610 | TAACC | TAACCTAACC |
| 277751 | duplication | NM_000433.3(NCF2):c.*508_*512dupGGTTA | 555649211 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524741 | 183524745 | TAACC | TAACCTAACC |
| 277752 | single nucleotide variant | NM_000433.3(NCF2):c.*510T>A | 886045646 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524743 | 183524743 | A | T |
| 277752 | single nucleotide variant | NM_000433.3(NCF2):c.*510T>A | 886045646 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555608 | 183555608 | A | T |
| 277753 | single nucleotide variant | NM_000433.3(NCF2):c.*398G>T | 796860 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524855 | 183524855 | C | A |
| 277753 | single nucleotide variant | NM_000433.3(NCF2):c.*398G>T | 796860 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555720 | 183555720 | C | A |
| 277754 | single nucleotide variant | NM_000433.3(NCF2):c.1498A>G (p.Lys500Glu) | 886045651 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183556201 | 183556201 | T | C |
| 277754 | single nucleotide variant | NM_000433.3(NCF2):c.1498A>G (p.Lys500Glu) | 886045651 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183525336 | 183525336 | T | C |
| 277757 | single nucleotide variant | NM_000433.3(NCF2):c.1084G>A (p.Val362Ile) | 886045656 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183563528 | 183563528 | C | T |
| 277757 | single nucleotide variant | NM_000433.3(NCF2):c.1084G>A (p.Val362Ile) | 886045656 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183532663 | 183532663 | C | T |
| 277758 | single nucleotide variant | NM_000433.3(NCF2):c.443C>T (p.Thr148Met) | 764142541 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183574545 | 183574545 | G | A |
| 277758 | single nucleotide variant | NM_000433.3(NCF2):c.443C>T (p.Thr148Met) | 764142541 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183543680 | 183543680 | G | A |
| 277850 | deletion | NM_000433.3(NCF2):c.*543_*546delGTTT | 376681445 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524707 | 183524710 | AAAC | - |
| 277850 | deletion | NM_000433.3(NCF2):c.*543_*546delGTTT | 376681445 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555572 | 183555575 | AAAC | - |
| 277853 | insertion | NM_000433.3(NCF2):c.*397_*398insTCA | 886045648 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524855 | 183524856 | - | TGA |
| 277853 | insertion | NM_000433.3(NCF2):c.*397_*398insTCA | 886045648 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555720 | 183555721 | - | TGA |
| 277857 | duplication | NM_000433.3(NCF2):c.*393dupA | 771465757 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555725 | 183555725 | T | TT |
| 277857 | duplication | NM_000433.3(NCF2):c.*393dupA | 771465757 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524860 | 183524860 | T | TT |
| 277859 | single nucleotide variant | NM_000433.3(NCF2):c.*262C>T | 201050705 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555856 | 183555856 | G | A |
| 277859 | single nucleotide variant | NM_000433.3(NCF2):c.*262C>T | 201050705 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524991 | 183524991 | G | A |
| 277860 | single nucleotide variant | NM_000433.3(NCF2):c.*97A>C | 367946786 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183556021 | 183556021 | T | G |
| 277860 | single nucleotide variant | NM_000433.3(NCF2):c.*97A>C | 367946786 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183525156 | 183525156 | T | G |
| 277861 | single nucleotide variant | NM_000433.3(NCF2):c.1552G>C (p.Asp518His) | 143901397 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183556147 | 183556147 | C | G |
| 277861 | single nucleotide variant | NM_000433.3(NCF2):c.1552G>C (p.Asp518His) | 143901397 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183525282 | 183525282 | C | G |
| 277863 | single nucleotide variant | NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser) | 55761650 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183560204 | 183560204 | G | A |
| 277863 | single nucleotide variant | NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser) | 55761650 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183529339 | 183529339 | G | A |
| 277869 | single nucleotide variant | NM_000433.3(NCF2):c.1247A>G (p.Gln416Arg) | 886045655 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183563238 | 183563238 | T | C |
| 277869 | single nucleotide variant | NM_000433.3(NCF2):c.1247A>G (p.Gln416Arg) | 886045655 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183532373 | 183532373 | T | C |
| 277870 | single nucleotide variant | NM_000433.3(NCF2):c.1157G>A (p.Arg386Gln) | 147908264 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183563455 | 183563455 | C | T |
| 277870 | single nucleotide variant | NM_000433.3(NCF2):c.1157G>A (p.Arg386Gln) | 147908264 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183532590 | 183532590 | C | T |
| 277875 | insertion | NM_000433.3(NCF2):c.-249_-248insA | 35066000 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183590577 | 183590578 | - | T |
| 277875 | insertion | NM_000433.3(NCF2):c.-249_-248insA | 35066000 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183559712 | 183559713 | - | T |
| 278804 | single nucleotide variant | NM_000433.3(NCF2):c.1291-15C>G | 886045654 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183560288 | 183560288 | G | C |
| 278804 | single nucleotide variant | NM_000433.3(NCF2):c.1291-15C>G | 886045654 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183529423 | 183529423 | G | C |
| 278806 | single nucleotide variant | NM_000433.3(NCF2):c.707T>C (p.Ile236Thr) | 764405660 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183569148 | 183569148 | A | G |
| 278806 | single nucleotide variant | NM_000433.3(NCF2):c.707T>C (p.Ile236Thr) | 764405660 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183538283 | 183538283 | A | G |
| 278807 | single nucleotide variant | NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) | 115365142 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183573231 | 183573231 | C | T |
| 278807 | single nucleotide variant | NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) | 115365142 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183542366 | 183542366 | C | T |
| 278813 | single nucleotide variant | NM_000433.3(NCF2):c.174+8G>C | 34009795 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183590148 | 183590148 | C | G |
| 278813 | single nucleotide variant | NM_000433.3(NCF2):c.174+8G>C | 34009795 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183559283 | 183559283 | C | G |
| 278814 | single nucleotide variant | NM_000433.3(NCF2):c.-240T>G | 2274065 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183590569 | 183590569 | A | C |
| 278814 | single nucleotide variant | NM_000433.3(NCF2):c.-240T>G | 2274065 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183559704 | 183559704 | A | C |
| 278841 | single nucleotide variant | NM_000433.3(NCF2):c.*445A>C | 886045647 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524808 | 183524808 | T | G |
| 278841 | single nucleotide variant | NM_000433.3(NCF2):c.*445A>C | 886045647 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555673 | 183555673 | T | G |
| 278843 | deletion | NM_000433.3(NCF2):c.*393delA | 886045649 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555725 | 183555725 | T | - |
| 278843 | deletion | NM_000433.3(NCF2):c.*393delA | 886045649 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524860 | 183524860 | T | - |
| 278845 | deletion | NM_000433.3(NCF2):c.*268_*269delAG | 886045650 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183555849 | 183555850 | CT | - |
| 278845 | deletion | NM_000433.3(NCF2):c.*268_*269delAG | 886045650 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183524984 | 183524985 | CT | - |
| 278865 | single nucleotide variant | NM_000433.3(NCF2):c.1385T>G (p.Val462Gly) | 886045652 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183560179 | 183560179 | A | C |
| 278865 | single nucleotide variant | NM_000433.3(NCF2):c.1385T>G (p.Val462Gly) | 886045652 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183529314 | 183529314 | A | C |
| 278882 | single nucleotide variant | NM_000433.3(NCF2):c.1336G>T (p.Asp446Tyr) | 886045653 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183560228 | 183560228 | C | A |
| 278882 | single nucleotide variant | NM_000433.3(NCF2):c.1336G>T (p.Asp446Tyr) | 886045653 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183529363 | 183529363 | C | A |
| 278897 | single nucleotide variant | NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln) | 145229115 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183563301 | 183563301 | C | T |
| 278897 | single nucleotide variant | NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln) | 145229115 | MedGen:C0018203,Orphanet:ORPHA379 | 1 | 183532436 | 183532436 | C | T |
| 359221 | single nucleotide variant | NM_000433.3(NCF2):c.257+1G>A | 1057517775 | MedGen:CN221809 | 1 | 183556029 | 183556029 | C | T |
| 359221 | single nucleotide variant | NM_000433.3(NCF2):c.257+1G>A | 1057517775 | MedGen:CN221809 | 1 | 183586894 | 183586894 | C | T |
| 359241 | single nucleotide variant | NM_000433.3(NCF2):c.366+1G>C | 796065032 | MedGen:CN221809 | 1 | 183546733 | 183546733 | C | G |
| 359241 | single nucleotide variant | NM_000433.3(NCF2):c.366+1G>C | 796065032 | MedGen:CN221809 | 1 | 183577598 | 183577598 | C | G |