| NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000526618]|not provided [RCV001532089]|not specified [RCV002282216] |
Chr1:183563531 [GRCh38]
Chr1:183532666 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.399_400dup (p.Lys134fs) |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002327] |
Chr1:183574587..183574588 [GRCh38]
Chr1:183543722..183543723 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.304C>T (p.Arg102Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002329] |
Chr1:183577661 [GRCh38]
Chr1:183546796 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002330]|not provided [RCV001582461] |
Chr1:183563437..183563441 [GRCh38]
Chr1:183532572..183532576 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.366+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002331]|not provided [RCV000522170] |
Chr1:183577598 [GRCh38]
Chr1:183546733 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002333]|not provided [RCV000494542] |
Chr1:183590267..183590275 [GRCh38]
Chr1:183559402..183559410 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic |
| NM_000433.4(NCF2):c.1069C>T (p.His357Tyr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001857969]|not provided [RCV000521067] |
Chr1:183563543 [GRCh38]
Chr1:183532678 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002332] |
Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.383C>T (p.Ala128Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002334] |
Chr1:183574605 [GRCh38]
Chr1:183543740 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002335] |
Chr1:183586922 [GRCh38]
Chr1:183556057 [GRCh37]
Chr1:1q25.3 |
pathogenic|uncertain significance |
| NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002336]|not provided [RCV001650826]|not specified [RCV000597800] |
Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 |
copy number loss |
See cases [RCV000051221] |
Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1 |
pathogenic |
| GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 |
copy number loss |
See cases [RCV000053949] |
Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1 |
pathogenic |
| GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 |
copy number loss |
See cases [RCV000053948] |
Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001854241]|not provided [RCV000059356] |
Chr1:183563507 [GRCh38]
Chr1:183532642 [GRCh37]
Chr1:1q25.3 |
uncertain significance|not provided |
| NM_000433.4(NCF2):c.125A>G (p.Asn42Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059357] |
Chr1:183590205 [GRCh38]
Chr1:183559340 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.130G>C (p.Gly44Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059358] |
Chr1:183590200 [GRCh38]
Chr1:183559335 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.130G>T (p.Gly44Cys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059359]|not provided [RCV000430894] |
Chr1:183590200 [GRCh38]
Chr1:183559335 [GRCh37]
Chr1:1q25.3 |
uncertain significance|not provided |
| NM_000433.4(NCF2):c.233G>A (p.Gly78Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059360] |
Chr1:183586919 [GRCh38]
Chr1:183556054 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.235A>G (p.Met79Val) |
single nucleotide variant |
not provided [RCV000059361] |
Chr1:183586917 [GRCh38]
Chr1:183556052 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.279C>G (p.Asp93Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059362] |
Chr1:183577686 [GRCh38]
Chr1:183546821 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.305G>C (p.Arg102Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059363] |
Chr1:183577660 [GRCh38]
Chr1:183546795 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.323A>T (p.Asp108Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059364]|not provided [RCV001559780] |
Chr1:183577642 [GRCh38]
Chr1:183546777 [GRCh37]
Chr1:1q25.3 |
uncertain significance|not provided |
| NM_000433.4(NCF2):c.409T>A (p.Trp137Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059365] |
Chr1:183574579 [GRCh38]
Chr1:183543714 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.419C>A (p.Ala140Asp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059366] |
Chr1:183574569 [GRCh38]
Chr1:183543704 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.505C>G (p.Gln169Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059367] |
Chr1:183573289 [GRCh38]
Chr1:183542424 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.551G>C (p.Arg184Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059368] |
Chr1:183573243 [GRCh38]
Chr1:183542378 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.605C>T (p.Ala202Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059369] |
Chr1:183573189 [GRCh38]
Chr1:183542324 [GRCh37]
Chr1:1q25.3 |
likely pathogenic|not provided |
| NM_000433.4(NCF2):c.983G>A (p.Arg328Lys) |
single nucleotide variant |
not provided [RCV000059370] |
Chr1:183565721 [GRCh38]
Chr1:183534856 [GRCh37]
Chr1:1q25.3 |
not provided |
| NM_001174061.1(SMG7):c.3342C>T (p.Ser1114=) |
single nucleotide variant |
Malignant melanoma [RCV000060014] |
Chr1:183551835 [GRCh38]
Chr1:183520970 [GRCh37]
Chr1:181787593 [NCBI36]
Chr1:1q25.3 |
not provided |
| NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000973778]|not provided [RCV001709577] |
Chr1:183563455 [GRCh38]
Chr1:183532590 [GRCh37]
Chr1:1q25.3 |
benign|uncertain significance |
| NM_000433.4(NCF2):c.1524A>C (p.Lys508Asn) |
single nucleotide variant |
not provided [RCV000255379] |
Chr1:183556175 [GRCh38]
Chr1:183525310 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.606G>A (p.Ala202=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000529432]|not provided [RCV001540488]|not specified [RCV000178768] |
Chr1:183573188 [GRCh38]
Chr1:183542323 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NM_000433.4(NCF2):c.565C>T (p.Gln189Ter) |
single nucleotide variant |
not provided [RCV000178769] |
Chr1:183573229 [GRCh38]
Chr1:183542364 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 |
copy number loss |
See cases [RCV000134144] |
Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3 |
pathogenic |
| GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 |
copy number gain |
See cases [RCV000134876] |
Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1 |
pathogenic |
| GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 |
copy number loss |
See cases [RCV000142369] |
Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2 |
pathogenic |
| GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 |
copy number loss |
See cases [RCV000143688] |
Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1 |
pathogenic |
| GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 |
copy number loss |
See cases [RCV000240242] |
Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2 |
pathogenic |
| NM_000433.4(NCF2):c.175-149G>A |
single nucleotide variant |
not provided [RCV001549516] |
Chr1:183587126 [GRCh38]
Chr1:183556261 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1552G>C (p.Asp518His) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642283] |
Chr1:183556147 [GRCh38]
Chr1:183525282 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.443C>T (p.Thr148Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000277633] |
Chr1:183574545 [GRCh38]
Chr1:183543680 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000551931]|NCF2-related condition [RCV003910066]|not provided [RCV001668644]|not specified [RCV000598123] |
Chr1:183560204 [GRCh38]
Chr1:183529339 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|uncertain significance |
| NM_000433.4(NCF2):c.707T>C (p.Ile236Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000366527] |
Chr1:183569148 [GRCh38]
Chr1:183538283 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000526980]|NCF2-related condition [RCV003417936]|not provided [RCV001701989] |
Chr1:183563301 [GRCh38]
Chr1:183532436 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001088101]|NCF2-related condition [RCV003930214]|not provided [RCV000766500]|not specified [RCV000437670] |
Chr1:183573231 [GRCh38]
Chr1:183542366 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.174+8G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000545518]|not provided [RCV001568279] |
Chr1:183590148 [GRCh38]
Chr1:183559283 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|uncertain significance |
| NM_000433.3(NCF2):c.-249_-248insA |
insertion |
Chronic granulomatous disease [RCV000281005]|not provided [RCV001618505] |
Chr1:183590577..183590578 [GRCh38]
Chr1:183559712..183559713 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NM_000433.4(NCF2):c.1001-10T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000550625]|not provided [RCV001705335]|not specified [RCV000249327] |
Chr1:183564040 [GRCh38]
Chr1:183533175 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.1291-6T>C |
single nucleotide variant |
not provided [RCV001507506] |
Chr1:183560279 [GRCh38]
Chr1:183529414 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000388595]|not provided [RCV001651127]|not specified [RCV000243467] |
Chr1:183573252 [GRCh38]
Chr1:183542387 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1167C>A (p.His389Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000539056]|not provided [RCV001668429]|not specified [RCV000253292] |
Chr1:183563445 [GRCh38]
Chr1:183532580 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NM_000433.3(NCF2):c.-240T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000373385]|not provided [RCV001642903] |
Chr1:183590569 [GRCh38]
Chr1:183559704 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.*398G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000361687] |
Chr1:183555720 [GRCh38]
Chr1:183524855 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.*97A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000387216] |
Chr1:183556021 [GRCh38]
Chr1:183525156 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*262C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000328081] |
Chr1:183555856 [GRCh38]
Chr1:183524991 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*539GTTT[1] |
microsatellite |
Chronic granulomatous disease [RCV000393796] |
Chr1:183555572..183555575 [GRCh38]
Chr1:183524707..183524710 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1084G>A (p.Val362Ile) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000270890] |
Chr1:183563528 [GRCh38]
Chr1:183532663 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 28 [RCV001258235]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000539456]|not provided [RCV001705405]|not specified [RCV000309636] |
Chr1:183563229 [GRCh38]
Chr1:183532364 [GRCh37]
Chr1:1q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000433.4(NCF2):c.*517dup |
duplication |
Chronic granulomatous disease [RCV000300747] |
Chr1:183555600..183555601 [GRCh38]
Chr1:183524735..183524736 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001085219]|NCF2-related condition [RCV003949889]|not provided [RCV000313929]|not specified [RCV002222475] |
Chr1:183590217 [GRCh38]
Chr1:183559352 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.*393dup |
duplication |
Chronic granulomatous disease [RCV000326871] |
Chr1:183555724..183555725 [GRCh38]
Chr1:183524859..183524860 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.890T>C (p.Val297Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000545841]|not specified [RCV000317093] |
Chr1:183566954 [GRCh38]
Chr1:183536089 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NM_000433.4(NCF2):c.*508_*512dup |
duplication |
Chronic granulomatous disease [RCV000355607] |
Chr1:183555605..183555606 [GRCh38]
Chr1:183524740..183524741 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*510T>A |
single nucleotide variant |
Chronic granulomatous disease [RCV000265569] |
Chr1:183555608 [GRCh38]
Chr1:183524743 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*397_*398insTCA |
insertion |
Chronic granulomatous disease [RCV000267086] |
Chr1:183555720..183555721 [GRCh38]
Chr1:183524855..183524856 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*264AG[2] |
microsatellite |
Chronic granulomatous disease [RCV000291820] |
Chr1:183555849..183555850 [GRCh38]
Chr1:183524984..183524985 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*393del |
deletion |
Chronic granulomatous disease [RCV000381536] |
Chr1:183555725 [GRCh38]
Chr1:183524860 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1385T>G (p.Val462Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000401057] |
Chr1:183560179 [GRCh38]
Chr1:183529314 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.*445A>C |
single nucleotide variant |
Chronic granulomatous disease [RCV000320618] |
Chr1:183555673 [GRCh38]
Chr1:183524808 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000335234] |
Chr1:183560228 [GRCh38]
Chr1:183529363 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1291-15C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000407036] |
Chr1:183560288 [GRCh38]
Chr1:183529423 [GRCh37]
Chr1:1q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000352650] |
Chr1:183556201 [GRCh38]
Chr1:183525336 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000300260] |
Chr1:183563238 [GRCh38]
Chr1:183532373 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1523A>G (p.Lys508Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000533046] |
Chr1:183556176 [GRCh38]
Chr1:183525311 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1178+9C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002065177]|not provided [RCV000591574] |
Chr1:183563425 [GRCh38]
Chr1:183532560 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.-98T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099192] |
Chr1:183590427 [GRCh38]
Chr1:183559562 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.257+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001861411]|not provided [RCV000412920] |
Chr1:183586894 [GRCh38]
Chr1:183556029 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic |
| NM_000433.4(NCF2):c.366+1G>C |
single nucleotide variant |
not provided [RCV000412968] |
Chr1:183577598 [GRCh38]
Chr1:183546733 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.359C>T (p.Ala120Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000553435] |
Chr1:183577606 [GRCh38]
Chr1:183546741 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 |
copy number loss |
See cases [RCV000447098] |
Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3 |
pathogenic |
| NM_000433.4(NCF2):c.836C>T (p.Thr279Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000964238]|NCF2-related condition [RCV003972584]|not provided [RCV001720014]|not specified [RCV001844158] |
Chr1:183567223 [GRCh38]
Chr1:183536358 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 |
copy number loss |
See cases [RCV000445748] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 |
copy number loss |
See cases [RCV000448646] |
Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 |
copy number loss |
See cases [RCV000448809] |
Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 |
copy number gain |
See cases [RCV000448160] |
Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 |
copy number loss |
See cases [RCV000448686] |
Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3 |
pathogenic |
| NM_000433.4(NCF2):c.835_836del (p.Thr279fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001865445]|not provided [RCV000482820] |
Chr1:183567223..183567224 [GRCh38]
Chr1:183536358..183536359 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 |
copy number loss |
See cases [RCV000512128] |
Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000433.4(NCF2):c.1179-4C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642281]|not provided [RCV001675949] |
Chr1:183563310 [GRCh38]
Chr1:183532445 [GRCh37]
Chr1:1q25.3 |
benign|conflicting interpretations of pathogenicity |
| NM_000433.4(NCF2):c.693G>T (p.Pro231=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001486681] |
Chr1:183569162 [GRCh38]
Chr1:183538297 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NC_000001.10:g.(?_183536035)_(183536500_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642284] |
Chr1:183566900..183567365 [GRCh38]
Chr1:183536035..183536500 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.93C>T (p.Ala31=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001083839]|not provided [RCV000728029] |
Chr1:183590237 [GRCh38]
Chr1:183559372 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642278] |
Chr1:183590281 [GRCh38]
Chr1:183559416 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.636C>T (p.Asp212=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097343]|not provided [RCV000597510] |
Chr1:183570813 [GRCh38]
Chr1:183539948 [GRCh37]
Chr1:1q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.1581G>C (p.Ter527Tyr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642279] |
Chr1:183556118 [GRCh38]
Chr1:183525253 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 |
copy number gain |
See cases [RCV000512520] |
Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1321G>A (p.Glu441Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000688043] |
Chr1:183560243 [GRCh38]
Chr1:183529378 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1514T>C (p.Ile505Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000700972] |
Chr1:183556185 [GRCh38]
Chr1:183525320 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.482del (p.Lys161fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000690026] |
Chr1:183574506 [GRCh38]
Chr1:183543641 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.40del (p.Val14fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000695278] |
Chr1:183590290 [GRCh38]
Chr1:183559425 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.904del (p.His302fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000702612] |
Chr1:183566940 [GRCh38]
Chr1:183536075 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.812A>G (p.Lys271Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000697840] |
Chr1:183567247 [GRCh38]
Chr1:183536382 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1026+1G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000694265] |
Chr1:183564004 [GRCh38]
Chr1:183533139 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 |
copy number loss |
not provided [RCV000736735] |
Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1 |
pathogenic |
| NM_000433.4(NCF2):c.1401T>C (p.Ser467=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001450319] |
Chr1:183560163 [GRCh38]
Chr1:183529298 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1291-246C>T |
single nucleotide variant |
not provided [RCV001724549] |
Chr1:183560519 [GRCh38]
Chr1:183529654 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.713+252T>C |
single nucleotide variant |
not provided [RCV001709085] |
Chr1:183568890 [GRCh38]
Chr1:183538025 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_001127651.3(NCF2):c.-31+134C>T |
single nucleotide variant |
not provided [RCV001609500] |
Chr1:183590706 [GRCh38]
Chr1:183559841 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.201C>T (p.Asp67=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002066043] |
Chr1:183586951 [GRCh38]
Chr1:183556086 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.444G>A (p.Thr148=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000882350] |
Chr1:183574544 [GRCh38]
Chr1:183543679 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.324C>T (p.Asp108=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001421181] |
Chr1:183577641 [GRCh38]
Chr1:183546776 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1083G>A (p.Thr361=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001506242] |
Chr1:183563529 [GRCh38]
Chr1:183532664 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1446T>C (p.Asp482=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000924982] |
Chr1:183560118 [GRCh38]
Chr1:183529253 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1469-5_1469-2dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001504536] |
Chr1:183556231..183556232 [GRCh38]
Chr1:183525366..183525367 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.229C>A (p.Arg77=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001061601] |
Chr1:183586923 [GRCh38]
Chr1:183556058 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.484G>A (p.Ala162Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001061781] |
Chr1:183574504 [GRCh38]
Chr1:183543639 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1268C>G (p.Thr423Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001069925] |
Chr1:183563217 [GRCh38]
Chr1:183532352 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.94G>A (p.Val32Ile) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001038440]|Inborn genetic diseases [RCV002551421] |
Chr1:183590236 [GRCh38]
Chr1:183559371 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.609G>A (p.Thr203=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001047178] |
Chr1:183573185 [GRCh38]
Chr1:183542320 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001050845] |
Chr1:183590266 [GRCh38]
Chr1:183559401 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.10:g.172652343_183538289del10885947 |
deletion |
1q24q25 microdeletion syndrome [RCV000785662] |
Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3 |
pathogenic |
| NM_000433.4(NCF2):c.855+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000778203] |
Chr1:183567203 [GRCh38]
Chr1:183536338 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1546A>G (p.Thr516Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000806699]|not provided [RCV001507505] |
Chr1:183556153 [GRCh38]
Chr1:183525288 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.927G>A (p.Glu309=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000944776] |
Chr1:183565777 [GRCh38]
Chr1:183534912 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.918G>A (p.Gln306=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000937609] |
Chr1:183566926 [GRCh38]
Chr1:183536061 [GRCh37]
Chr1:1q25.3 |
benign|conflicting interpretations of pathogenicity |
| NM_000433.4(NCF2):c.939G>A (p.Pro313=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000944481] |
Chr1:183565765 [GRCh38]
Chr1:183534900 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.156C>T (p.Asn52=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000918399] |
Chr1:183590174 [GRCh38]
Chr1:183559309 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1183C>A (p.Arg395=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000803420] |
Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.663A>G (p.Gln221=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000800029] |
Chr1:183570786 [GRCh38]
Chr1:183539921 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.934T>C (p.Ser312Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000811696] |
Chr1:183565770 [GRCh38]
Chr1:183534905 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1441G>A (p.Gly481Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000804222] |
Chr1:183560123 [GRCh38]
Chr1:183529258 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.244T>A (p.Tyr82Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000809135]|Inborn genetic diseases [RCV002538047] |
Chr1:183586908 [GRCh38]
Chr1:183556043 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.550C>T (p.Arg184Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002535792]|not provided [RCV000788837] |
Chr1:183573244 [GRCh38]
Chr1:183542379 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic |
| NM_000433.4(NCF2):c.692C>T (p.Pro231Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000818292] |
Chr1:183569163 [GRCh38]
Chr1:183538298 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.112C>T (p.Arg38Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000794385] |
Chr1:183590218 [GRCh38]
Chr1:183559353 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.319A>G (p.Ile107Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001046167] |
Chr1:183577646 [GRCh38]
Chr1:183546781 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.366+3A>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000806889] |
Chr1:183577596 [GRCh38]
Chr1:183546731 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.21C>G (p.Ile7Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000791651] |
Chr1:183590309 [GRCh38]
Chr1:183559444 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.837G>A (p.Thr279=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097342] |
Chr1:183567222 [GRCh38]
Chr1:183536357 [GRCh37]
Chr1:1q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.269C>T (p.Ala90Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000812884] |
Chr1:183577696 [GRCh38]
Chr1:183546831 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1543G>A (p.Ala515Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000794910] |
Chr1:183556156 [GRCh38]
Chr1:183525291 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000816923]|not provided [RCV001561611] |
Chr1:183563492 [GRCh38]
Chr1:183532627 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000814529] |
Chr1:183560239..183560243 [GRCh38]
Chr1:183529374..183529378 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1441G>C (p.Gly481Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000798179] |
Chr1:183560123 [GRCh38]
Chr1:183529258 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.194A>G (p.Asn65Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000801293] |
Chr1:183586958 [GRCh38]
Chr1:183556093 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.670-4A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001068238] |
Chr1:183569189 [GRCh38]
Chr1:183538324 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1178+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001065930] |
Chr1:183563433 [GRCh38]
Chr1:183532568 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.669+6G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001234112] |
Chr1:183570774 [GRCh38]
Chr1:183539909 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.979G>A (p.Gly327Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001222631] |
Chr1:183565725 [GRCh38]
Chr1:183534860 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.818_832del (p.Gly273_Trp277del) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001209157] |
Chr1:183567227..183567241 [GRCh38]
Chr1:183536362..183536376 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.373T>C (p.Tyr125His) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001229779] |
Chr1:183574615 [GRCh38]
Chr1:183543750 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1291-3C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001219245] |
Chr1:183560276 [GRCh38]
Chr1:183529411 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44 |
pathogenic |
| NM_000433.4(NCF2):c.1183C>G (p.Arg395Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001212887] |
Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.925-31G>A |
single nucleotide variant |
not provided [RCV001577409] |
Chr1:183565810 [GRCh38]
Chr1:183534945 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-320C>A |
single nucleotide variant |
not provided [RCV001608396] |
Chr1:183573612 [GRCh38]
Chr1:183542747 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1469-87A>C |
single nucleotide variant |
not provided [RCV001615789]|not specified [RCV003487515] |
Chr1:183556317 [GRCh38]
Chr1:183525452 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.175-283A>G |
single nucleotide variant |
not provided [RCV001671647] |
Chr1:183587260 [GRCh38]
Chr1:183556395 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.501+187G>T |
single nucleotide variant |
not provided [RCV001589326] |
Chr1:183574300 [GRCh38]
Chr1:183543435 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1469-255T>A |
single nucleotide variant |
not provided [RCV001694047] |
Chr1:183556485 [GRCh38]
Chr1:183525620 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.257+273A>G |
single nucleotide variant |
not provided [RCV001639846] |
Chr1:183586622 [GRCh38]
Chr1:183555757 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.257+274C>T |
single nucleotide variant |
not provided [RCV001581516] |
Chr1:183586621 [GRCh38]
Chr1:183555756 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+130C>T |
single nucleotide variant |
not provided [RCV001708045] |
Chr1:183563065 [GRCh38]
Chr1:183532200 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.258-190A>G |
single nucleotide variant |
not provided [RCV001710796] |
Chr1:183577897 [GRCh38]
Chr1:183547032 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.366+214C>A |
single nucleotide variant |
not provided [RCV001589814] |
Chr1:183577385 [GRCh38]
Chr1:183546520 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+78C>T |
single nucleotide variant |
not provided [RCV001687813] |
Chr1:183567126 [GRCh38]
Chr1:183536261 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.925-21G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001779269]|not provided [RCV001621845]|not specified [RCV003487548] |
Chr1:183565800 [GRCh38]
Chr1:183534935 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1179-5C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001466782] |
Chr1:183563311 [GRCh38]
Chr1:183532446 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000974550] |
Chr1:183565766 [GRCh38]
Chr1:183534901 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000433.4(NCF2):c.795C>T (p.Asn265=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000916582] |
Chr1:183567264 [GRCh38]
Chr1:183536399 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.645T>C (p.Ser215=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000925934] |
Chr1:183570804 [GRCh38]
Chr1:183539939 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.51G>A (p.Ala17=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000898041] |
Chr1:183590279 [GRCh38]
Chr1:183559414 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000933372]|Inborn genetic diseases [RCV003169367] |
Chr1:183586955 [GRCh38]
Chr1:183556090 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.1410T>C (p.Ala470=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001449266] |
Chr1:183560154 [GRCh38]
Chr1:183529289 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1542C>T (p.Cys514=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000933482] |
Chr1:183556157 [GRCh38]
Chr1:183525292 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.196C>T (p.Arg66Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002558732]|not provided [RCV001172222] |
Chr1:183586956 [GRCh38]
Chr1:183556091 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.3(NCF2):c.-264C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099194] |
Chr1:183590593 [GRCh38]
Chr1:183559728 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001238045] |
Chr1:183564013 [GRCh38]
Chr1:183533148 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000913787] |
Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3 |
benign|conflicting interpretations of pathogenicity |
| NM_000433.4(NCF2):c.610-276del |
deletion |
not provided [RCV001562193] |
Chr1:183571115 [GRCh38]
Chr1:183540250 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.*272_*274dup |
duplication |
not provided [RCV001545282] |
Chr1:183555843..183555844 [GRCh38]
Chr1:183524978..183524979 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.670-114T>G |
single nucleotide variant |
not provided [RCV001562313] |
Chr1:183569299 [GRCh38]
Chr1:183538434 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.610-242del |
deletion |
not provided [RCV001688684] |
Chr1:183571081 [GRCh38]
Chr1:183540216 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1000+295G>C |
single nucleotide variant |
not provided [RCV001689127] |
Chr1:183565409 [GRCh38]
Chr1:183534544 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.610-296_610-295dup |
duplication |
not provided [RCV001550196] |
Chr1:183571114..183571115 [GRCh38]
Chr1:183540249..183540250 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_001127651.3(NCF2):c.-31+114A>G |
single nucleotide variant |
not provided [RCV001688096] |
Chr1:183590726 [GRCh38]
Chr1:183559861 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1001-21C>T |
single nucleotide variant |
not provided [RCV001655547] |
Chr1:183564051 [GRCh38]
Chr1:183533186 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.366+261C>T |
single nucleotide variant |
not provided [RCV001619101] |
Chr1:183577338 [GRCh38]
Chr1:183546473 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.924+250dup |
duplication |
not provided [RCV001614324] |
Chr1:183566668..183566669 [GRCh38]
Chr1:183535803..183535804 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.610-296dup |
duplication |
not provided [RCV001617861] |
Chr1:183571114..183571115 [GRCh38]
Chr1:183540249..183540250 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.174+295C>T |
single nucleotide variant |
not provided [RCV001635851] |
Chr1:183589861 [GRCh38]
Chr1:183558996 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001100830] |
Chr1:183560189 [GRCh38]
Chr1:183529324 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001101084] |
Chr1:183563557 [GRCh38]
Chr1:183532692 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1216dup (p.Ser406fs) |
duplication |
not provided [RCV001172221] |
Chr1:183563268..183563269 [GRCh38]
Chr1:183532403..183532404 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1071C>T (p.His357=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001101083] |
Chr1:183563541 [GRCh38]
Chr1:183532676 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.-129T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099193]|not provided [RCV001551428] |
Chr1:183590458 [GRCh38]
Chr1:183559593 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NM_000433.4(NCF2):c.175-179T>C |
single nucleotide variant |
not provided [RCV001710667] |
Chr1:183587156 [GRCh38]
Chr1:183556291 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.714-114A>C |
single nucleotide variant |
not provided [RCV001684665] |
Chr1:183567459 [GRCh38]
Chr1:183536594 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1000+158C>A |
single nucleotide variant |
not provided [RCV001691501] |
Chr1:183565546 [GRCh38]
Chr1:183534681 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.257+151C>T |
single nucleotide variant |
not provided [RCV001652291] |
Chr1:183586744 [GRCh38]
Chr1:183555879 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.714-116T>C |
single nucleotide variant |
not provided [RCV001679558] |
Chr1:183567461 [GRCh38]
Chr1:183536596 [GRCh37]
Chr1:1q25.3 |
benign |
| NC_000001.11:g.(?_183577579)_(183577727_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001032584] |
Chr1:183546714..183546862 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.196C>A (p.Arg66=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099098]|NCF2-related condition [RCV003898088] |
Chr1:183586956 [GRCh38]
Chr1:183556091 [GRCh37]
Chr1:1q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001202132] |
Chr1:183556202..183556203 [GRCh38]
Chr1:183525337..183525338 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1189C>T (p.Arg397Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001206552]|not provided [RCV003222255] |
Chr1:183563296 [GRCh38]
Chr1:183532431 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.157A>G (p.Met53Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001219158] |
Chr1:183590173 [GRCh38]
Chr1:183559308 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1165C>A (p.His389Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001217928] |
Chr1:183563447 [GRCh38]
Chr1:183532582 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001052405] |
Chr1:183574575 [GRCh38]
Chr1:183543710 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 |
copy number loss |
not provided [RCV001005157] |
Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000433.4(NCF2):c.610-3T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001064696] |
Chr1:183570842 [GRCh38]
Chr1:183539977 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.996A>G (p.Ser332=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097341] |
Chr1:183565708 [GRCh38]
Chr1:183534843 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1469-5_1469-4dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001063894] |
Chr1:183556233..183556234 [GRCh38]
Chr1:183525368..183525369 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.174+1G>A |
single nucleotide variant |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 [RCV001334444] |
Chr1:183590155 [GRCh38]
Chr1:183559290 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001267776] |
Chr1:183556131 [GRCh38]
Chr1:183525266 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001308611] |
Chr1:183567238 [GRCh38]
Chr1:183536373 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001320606] |
Chr1:183577660 [GRCh38]
Chr1:183546795 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.670-9G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001302165] |
Chr1:183569194 [GRCh38]
Chr1:183538329 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.739G>T (p.Val247Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001305941]|Inborn genetic diseases [RCV002543145] |
Chr1:183567320 [GRCh38]
Chr1:183536455 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1540T>C (p.Cys514Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001313089] |
Chr1:183556159 [GRCh38]
Chr1:183525294 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1126C>T (p.Arg376Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001306789] |
Chr1:183563486 [GRCh38]
Chr1:183532621 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.501+6C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001363475] |
Chr1:183574481 [GRCh38]
Chr1:183543616 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1077G>A (p.Lys359=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001422614] |
Chr1:183563535 [GRCh38]
Chr1:183532670 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.612C>T (p.Val204=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001433891] |
Chr1:183570837 [GRCh38]
Chr1:183539972 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001298404] |
Chr1:183560200 [GRCh38]
Chr1:183529335 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.426A>G (p.Glu142=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001392651] |
Chr1:183574562 [GRCh38]
Chr1:183543697 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_000433.4(NCF2):c.713+4A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001362198] |
Chr1:183569138 [GRCh38]
Chr1:183538273 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1273T>C (p.Trp425Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001373907] |
Chr1:183563212 [GRCh38]
Chr1:183532347 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.395C>T (p.Ala132Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001343568] |
Chr1:183574593 [GRCh38]
Chr1:183543728 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1567C>T (p.Arg523Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001365035]|Inborn genetic diseases [RCV002547831] |
Chr1:183556132 [GRCh38]
Chr1:183525267 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001324158]|Inborn genetic diseases [RCV002545145] |
Chr1:183563560 [GRCh38]
Chr1:183532695 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001297327] |
Chr1:183560104 [GRCh38]
Chr1:183529239 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.869C>T (p.Pro290Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001338930] |
Chr1:183566975 [GRCh38]
Chr1:183536110 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1194C>A (p.Asp398Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001363330] |
Chr1:183563291 [GRCh38]
Chr1:183532426 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.138G>A (p.Met46Ile) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001307894] |
Chr1:183590192 [GRCh38]
Chr1:183559327 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1508T>C (p.Val503Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001323454] |
Chr1:183556191 [GRCh38]
Chr1:183525326 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.551G>A (p.Arg184Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001359963] |
Chr1:183573243 [GRCh38]
Chr1:183542378 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.898C>T (p.Arg300Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001339633] |
Chr1:183566946 [GRCh38]
Chr1:183536081 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.200A>G (p.Asp67Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001299845] |
Chr1:183586952 [GRCh38]
Chr1:183556087 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.290C>G (p.Ala97Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001326426] |
Chr1:183577675 [GRCh38]
Chr1:183546810 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.199G>T (p.Asp67Tyr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001367005] |
Chr1:183586953 [GRCh38]
Chr1:183556088 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1001-17C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001486962] |
Chr1:183564047 [GRCh38]
Chr1:183533182 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.924+8G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001473051] |
Chr1:183566912 [GRCh38]
Chr1:183536047 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-13C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001484670] |
Chr1:183567358 [GRCh38]
Chr1:183536493 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.511C>T (p.Leu171=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001482846]|NCF2-related condition [RCV003956068] |
Chr1:183573283 [GRCh38]
Chr1:183542418 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.258-8T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001506845] |
Chr1:183577715 [GRCh38]
Chr1:183546850 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.195C>T (p.Asn65=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001476941] |
Chr1:183586957 [GRCh38]
Chr1:183556092 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-8G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001493280] |
Chr1:183565787 [GRCh38]
Chr1:183534922 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.486G>A (p.Ala162=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001469053] |
Chr1:183574502 [GRCh38]
Chr1:183543637 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1001-6A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001400630] |
Chr1:183564036 [GRCh38]
Chr1:183533171 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.257+251G>A |
single nucleotide variant |
not provided [RCV001665030] |
Chr1:183586644 [GRCh38]
Chr1:183555779 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.528G>A (p.Val176=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001401110] |
Chr1:183573266 [GRCh38]
Chr1:183542401 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.910C>T (p.Gln304Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001390471] |
Chr1:183566934 [GRCh38]
Chr1:183536069 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.891T>G (p.Val297=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001417622] |
Chr1:183566953 [GRCh38]
Chr1:183536088 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.60G>A (p.Lys20=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001400026] |
Chr1:183590270 [GRCh38]
Chr1:183559405 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+7G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001406179] |
Chr1:183574480 [GRCh38]
Chr1:183543615 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001378719] |
Chr1:183574622 [GRCh38]
Chr1:183543757 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.258-2150T>C |
single nucleotide variant |
not provided [RCV001675359] |
Chr1:183579857 [GRCh38]
Chr1:183548992 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.174+186C>T |
single nucleotide variant |
not provided [RCV001614926] |
Chr1:183589970 [GRCh38]
Chr1:183559105 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_001127651.3(NCF2):c.-91C>T |
single nucleotide variant |
not provided [RCV001619400] |
Chr1:183590900 [GRCh38]
Chr1:183560035 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.366+232C>T |
single nucleotide variant |
not provided [RCV001687469] |
Chr1:183577367 [GRCh38]
Chr1:183546502 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1578C>T (p.Val526=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001495935] |
Chr1:183556121 [GRCh38]
Chr1:183525256 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-16G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001512003] |
Chr1:183574637 [GRCh38]
Chr1:183543772 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1287A>G (p.Thr429=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001478468] |
Chr1:183563198 [GRCh38]
Chr1:183532333 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.436T>C (p.Leu146=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001454214] |
Chr1:183574552 [GRCh38]
Chr1:183543687 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001514536]|not specified [RCV002222714] |
Chr1:183560222 [GRCh38]
Chr1:183529357 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1128G>C (p.Arg376=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001434793] |
Chr1:183563484 [GRCh38]
Chr1:183532619 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.273C>T (p.Ile91=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001441248] |
Chr1:183577692 [GRCh38]
Chr1:183546827 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-209G>A |
single nucleotide variant |
not provided [RCV001732688] |
Chr1:183587186 [GRCh38]
Chr1:183556321 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.713+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001784717] |
Chr1:183569141 [GRCh38]
Chr1:183538276 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.819C>T (p.Gly273=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001868604]|not provided [RCV001764034] |
Chr1:183567240 [GRCh38]
Chr1:183536375 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.805G>A (p.Val269Ile) |
single nucleotide variant |
not provided [RCV001768524] |
Chr1:183567254 [GRCh38]
Chr1:183536389 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.830G>A (p.Trp277Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001914597] |
Chr1:183567229 [GRCh38]
Chr1:183536364 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.855+16G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002043951] |
Chr1:183567188 [GRCh38]
Chr1:183536323 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987715] |
Chr1:183560147 [GRCh38]
Chr1:183529282 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.251_254del (p.Thr84fs) |
microsatellite |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987692] |
Chr1:183586898..183586901 [GRCh38]
Chr1:183556033..183556036 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.30G>A (p.Trp10Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001909878] |
Chr1:183590300 [GRCh38]
Chr1:183559435 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:180830413-183981164) |
copy number gain |
not specified [RCV002053802] |
Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 |
copy number loss |
not provided [RCV001836604] |
Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1 |
pathogenic |
| NM_000433.4(NCF2):c.1554T>G (p.Asp518Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001889882] |
Chr1:183556145 [GRCh38]
Chr1:183525280 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002002386] |
Chr1:183590329 [GRCh38]
Chr1:183559464 [GRCh37]
Chr1:1q25.3 |
pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) |
copy number loss |
not specified [RCV002053769] |
Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000433.4(NCF2):c.23G>T (p.Ser8Ile) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001911460]|Inborn genetic diseases [RCV002554354] |
Chr1:183590307 [GRCh38]
Chr1:183559442 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) |
copy number loss |
not specified [RCV002053780] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_000433.4(NCF2):c.1340C>T (p.Ala447Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001968790] |
Chr1:183560224 [GRCh38]
Chr1:183529359 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.637A>G (p.Ser213Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002020504] |
Chr1:183570812 [GRCh38]
Chr1:183539947 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1486G>C (p.Glu496Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001892866] |
Chr1:183556213 [GRCh38]
Chr1:183525348 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.932G>A (p.Ser311Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002004342] |
Chr1:183565772 [GRCh38]
Chr1:183534907 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1026G>A (p.Lys342=) |
single nucleotide variant |
Chronic granulomatous disease [RCV003226513]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001985518] |
Chr1:183564005 [GRCh38]
Chr1:183533140 [GRCh37]
Chr1:1q25.3 |
likely pathogenic|uncertain significance |
| NM_000433.4(NCF2):c.1490_1491insT (p.Glu498fs) |
insertion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001947414] |
Chr1:183556208..183556209 [GRCh38]
Chr1:183525343..183525344 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.536T>C (p.Val179Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987133] |
Chr1:183573258 [GRCh38]
Chr1:183542393 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1242G>T (p.Trp414Cys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001986886] |
Chr1:183563243 [GRCh38]
Chr1:183532378 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.406G>A (p.Glu136Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002023073] |
Chr1:183574582 [GRCh38]
Chr1:183543717 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.609+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002043024] |
Chr1:183573184 [GRCh38]
Chr1:183542319 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1000+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001966085] |
Chr1:183565703 [GRCh38]
Chr1:183534838 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.977C>T (p.Pro326Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001912406] |
Chr1:183565727 [GRCh38]
Chr1:183534862 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.856-6C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002023803] |
Chr1:183566994 [GRCh38]
Chr1:183536129 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.311A>G (p.Asn104Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002041372] |
Chr1:183577654 [GRCh38]
Chr1:183546789 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) |
copy number loss |
not specified [RCV002053736] |
Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3 |
pathogenic |
| NM_000433.4(NCF2):c.298C>A (p.Gln100Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001886123] |
Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001888511] |
Chr1:183563450 [GRCh38]
Chr1:183532585 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1555T>G (p.Leu519Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002020036] |
Chr1:183556144 [GRCh38]
Chr1:183525279 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.289G>C (p.Ala97Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002030953] |
Chr1:183577676 [GRCh38]
Chr1:183546811 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1569_1573del (p.Arg524fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001974317] |
Chr1:183556126..183556130 [GRCh38]
Chr1:183525261..183525265 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1291-16C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001944299] |
Chr1:183560289 [GRCh38]
Chr1:183529424 [GRCh37]
Chr1:1q25.3 |
likely benign|uncertain significance |
| NM_000433.4(NCF2):c.737G>A (p.Arg246His) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001896955] |
Chr1:183567322 [GRCh38]
Chr1:183536457 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.714-5T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002038644] |
Chr1:183567350 [GRCh38]
Chr1:183536485 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.613G>A (p.Val205Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002033578]|not provided [RCV002086727] |
Chr1:183570836 [GRCh38]
Chr1:183539971 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.859G>C (p.Gly287Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001887008] |
Chr1:183566985 [GRCh38]
Chr1:183536120 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.811AAG[1] (p.Lys272del) |
microsatellite |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001923923]|NCF2-related condition [RCV003948820] |
Chr1:183567243..183567245 [GRCh38]
Chr1:183536378..183536380 [GRCh37]
Chr1:1q25.3 |
benign|uncertain significance |
| NM_000433.4(NCF2):c.1544C>T (p.Ala515Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001875630] |
Chr1:183556155 [GRCh38]
Chr1:183525290 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001907238] |
Chr1:183586977 [GRCh38]
Chr1:183556112 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.669+1G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001978022] |
Chr1:183570779 [GRCh38]
Chr1:183539914 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.175-5C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001954461] |
Chr1:183586982 [GRCh38]
Chr1:183556117 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1427T>C (p.Leu476Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001881117] |
Chr1:183560137 [GRCh38]
Chr1:183529272 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.443C>A (p.Thr148Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002048797] |
Chr1:183574545 [GRCh38]
Chr1:183543680 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.10:g.(?_179520308)_(183559464_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] |
Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1156C>T (p.Arg386Trp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002013180] |
Chr1:183563456 [GRCh38]
Chr1:183532591 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.280C>T (p.Leu94Phe) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002027444] |
Chr1:183577685 [GRCh38]
Chr1:183546820 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001980239]|Inborn genetic diseases [RCV002592582] |
Chr1:183560102 [GRCh38]
Chr1:183529237 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1082C>T (p.Thr361Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002032315] |
Chr1:183563530 [GRCh38]
Chr1:183532665 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1486G>A (p.Glu496Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001999197] |
Chr1:183556213 [GRCh38]
Chr1:183525348 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.11:g.183586978del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001972801] |
Chr1:183586977 [GRCh38]
Chr1:183556112 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.312C>A (p.Asn104Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001996352] |
Chr1:183577653 [GRCh38]
Chr1:183546788 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.872G>C (p.Cys291Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001995469] |
Chr1:183566972 [GRCh38]
Chr1:183536107 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.743T>G (p.Leu248Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002036543] |
Chr1:183567316 [GRCh38]
Chr1:183536451 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.211G>T (p.Ala71Ser) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001997319] |
Chr1:183586941 [GRCh38]
Chr1:183556076 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1284C>G (p.Asn428Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001952038] |
Chr1:183563201 [GRCh38]
Chr1:183532336 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.10:g.(?_183543602)_(183543776_?)del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001956547] |
Chr1:183543602..183543776 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.856-16T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002169852] |
Chr1:183567004 [GRCh38]
Chr1:183536139 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-17_367-16delinsAA |
indel |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002109060] |
Chr1:183574637..183574638 [GRCh38]
Chr1:183543772..183543773 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-19C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128686] |
Chr1:183565798 [GRCh38]
Chr1:183534933 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.595C>T (p.Leu199=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128980] |
Chr1:183573199 [GRCh38]
Chr1:183542334 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-18C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002129599] |
Chr1:183574639 [GRCh38]
Chr1:183543774 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.175-13C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128302] |
Chr1:183586990 [GRCh38]
Chr1:183556125 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.1026+12C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002188606] |
Chr1:183563993 [GRCh38]
Chr1:183533128 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.924+20T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002112190] |
Chr1:183566900 [GRCh38]
Chr1:183536035 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-6C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002147851] |
Chr1:183565785 [GRCh38]
Chr1:183534920 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-17G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002071341] |
Chr1:183574638 [GRCh38]
Chr1:183543773 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.687C>T (p.Pro229=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002086926] |
Chr1:183569168 [GRCh38]
Chr1:183538303 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1291-13T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002092172] |
Chr1:183560286 [GRCh38]
Chr1:183529421 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1254A>G (p.Lys418=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002214684] |
Chr1:183563231 [GRCh38]
Chr1:183532366 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1206G>A (p.Leu402=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002150488] |
Chr1:183563279 [GRCh38]
Chr1:183532414 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.945C>T (p.Ser315=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002212388] |
Chr1:183565759 [GRCh38]
Chr1:183534894 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+20A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002114162] |
Chr1:183574467 [GRCh38]
Chr1:183543602 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-17C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002209055] |
Chr1:183573309 [GRCh38]
Chr1:183542444 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1178+20C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002116241] |
Chr1:183563414 [GRCh38]
Chr1:183532549 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+20T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002207956] |
Chr1:183590136 [GRCh38]
Chr1:183559271 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1224C>T (p.Asp408=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003089114]|not provided [RCV002211127] |
Chr1:183563261 [GRCh38]
Chr1:183532396 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-16G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002112559] |
Chr1:183573308 [GRCh38]
Chr1:183542443 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.834C>A (p.Ala278=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002168988] |
Chr1:183567225 [GRCh38]
Chr1:183536360 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1257C>T (p.Asn419=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002193439] |
Chr1:183563228 [GRCh38]
Chr1:183532363 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+15G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002174532] |
Chr1:183563180 [GRCh38]
Chr1:183532315 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+16G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002176951] |
Chr1:183563179 [GRCh38]
Chr1:183532314 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+16T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002177112] |
Chr1:183590140 [GRCh38]
Chr1:183559275 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+20del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002197709] |
Chr1:183567184 [GRCh38]
Chr1:183536319 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.258-9G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002176291] |
Chr1:183577716 [GRCh38]
Chr1:183546851 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.849C>T (p.Asn283=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002200777] |
Chr1:183567210 [GRCh38]
Chr1:183536345 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+8G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002201284] |
Chr1:183567196 [GRCh38]
Chr1:183536331 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.330G>A (p.Lys110=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002200428] |
Chr1:183577635 [GRCh38]
Chr1:183546770 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-9T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002142290] |
Chr1:183586986 [GRCh38]
Chr1:183556121 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-17C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002218013] |
Chr1:183573309 [GRCh38]
Chr1:183542444 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1438del (p.Glu480fs) |
deletion |
Chronic granulomatous disease [RCV002223034] |
Chr1:183560126 [GRCh38]
Chr1:183529261 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.714-6C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002099637] |
Chr1:183567351 [GRCh38]
Chr1:183536486 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1515T>C (p.Ile505=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002144390] |
Chr1:183556184 [GRCh38]
Chr1:183525319 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1074C>T (p.Tyr358=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002219009] |
Chr1:183563538 [GRCh38]
Chr1:183532673 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1053C>T (p.Pro351=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002102251] |
Chr1:183563559 [GRCh38]
Chr1:183532694 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.348C>T (p.Phe116=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002140871] |
Chr1:183577617 [GRCh38]
Chr1:183546752 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1000+13G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002154559] |
Chr1:183565691 [GRCh38]
Chr1:183534826 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1062C>T (p.Leu354=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002135873] |
Chr1:183563550 [GRCh38]
Chr1:183532685 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+19C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002181823] |
Chr1:183574468 [GRCh38]
Chr1:183543603 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.856-18T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002142746] |
Chr1:183567006 [GRCh38]
Chr1:183536141 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NC_000001.10:g.(?_183542300)_(183542447_?)del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003111226] |
Chr1:183542300..183542447 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NC_000001.10:g.(?_183546714)_(183559464_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003111227] |
Chr1:183546714..183559464 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.10:g.(183529409_183532329)_(183559740_?)dup |
duplication |
not specified [RCV002282825] |
Chr1:183532329..183559740 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.175-1G>A |
single nucleotide variant |
not provided [RCV002283201] |
Chr1:183586978 [GRCh38]
Chr1:183556113 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 |
copy number loss |
not provided [RCV002473949] |
Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2 |
pathogenic |
| NM_000433.4(NCF2):c.394G>C (p.Ala132Pro) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002841959] |
Chr1:183574594 [GRCh38]
Chr1:183543729 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.608C>T (p.Thr203Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003097609] |
Chr1:183573186 [GRCh38]
Chr1:183542321 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.757C>T (p.Pro253Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002734524] |
Chr1:183567302 [GRCh38]
Chr1:183536437 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.964A>G (p.Ser322Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002776611] |
Chr1:183565740 [GRCh38]
Chr1:183534875 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.921C>T (p.Pro307=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002947810] |
Chr1:183566923 [GRCh38]
Chr1:183536058 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-12T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002690370] |
Chr1:183573304 [GRCh38]
Chr1:183542439 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.715G>A (p.Ala239Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002617976] |
Chr1:183567344 [GRCh38]
Chr1:183536479 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 |
copy number gain |
not provided [RCV002475637] |
Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3 |
pathogenic |
| NM_000433.4(NCF2):c.714-11A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002730251] |
Chr1:183567356 [GRCh38]
Chr1:183536491 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.759T>C (p.Pro253=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002751555]|NCF2-related condition [RCV003936312] |
Chr1:183567300 [GRCh38]
Chr1:183536435 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.566A>G (p.Gln189Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002971142] |
Chr1:183573228 [GRCh38]
Chr1:183542363 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.756G>C (p.Val252=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002991782] |
Chr1:183567303 [GRCh38]
Chr1:183536438 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1212C>T (p.Pro404=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002686275] |
Chr1:183563273 [GRCh38]
Chr1:183532408 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1234G>A (p.Asp412Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002947584] |
Chr1:183563251 [GRCh38]
Chr1:183532386 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.101A>G (p.Asp34Gly) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002995921] |
Chr1:183590229 [GRCh38]
Chr1:183559364 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1104C>T (p.Pro368=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003076210] |
Chr1:183563508 [GRCh38]
Chr1:183532643 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-16_925-14del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003016240] |
Chr1:183565793..183565795 [GRCh38]
Chr1:183534928..183534930 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002825438] |
Chr1:183556149 [GRCh38]
Chr1:183525284 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.495T>C (p.Cys165=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002889451] |
Chr1:183574493 [GRCh38]
Chr1:183543628 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1065G>C (p.Lys355Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003021717] |
Chr1:183563547 [GRCh38]
Chr1:183532682 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1319A>C (p.Lys440Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844751] |
Chr1:183560245 [GRCh38]
Chr1:183529380 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.999A>G (p.Pro333=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002846997] |
Chr1:183565705 [GRCh38]
Chr1:183534840 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.259T>C (p.Tyr87His) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002824716] |
Chr1:183577706 [GRCh38]
Chr1:183546841 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.485C>T (p.Ala162Val) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003079013] |
Chr1:183574503 [GRCh38]
Chr1:183543638 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.360C>A (p.Ala120=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002760960] |
Chr1:183577605 [GRCh38]
Chr1:183546740 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-17G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002622651] |
Chr1:183567362 [GRCh38]
Chr1:183536497 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.780G>A (p.Gln260=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002846841] |
Chr1:183567279 [GRCh38]
Chr1:183536414 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1029A>G (p.Glu343=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002667392] |
Chr1:183563583 [GRCh38]
Chr1:183532718 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002697478] |
Chr1:183577676 [GRCh38]
Chr1:183546811 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1468+12T>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002740683] |
Chr1:183560084 [GRCh38]
Chr1:183529219 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002624494] |
Chr1:183556198 [GRCh38]
Chr1:183525333 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.728del (p.Glu243fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002664194] |
Chr1:183567331 [GRCh38]
Chr1:183536466 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.544C>T (p.Leu182=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002889994] |
Chr1:183573250 [GRCh38]
Chr1:183542385 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1236T>G (p.Asp412Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002919291] |
Chr1:183563249 [GRCh38]
Chr1:183532384 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.609+13G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003006321] |
Chr1:183573172 [GRCh38]
Chr1:183542307 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1168A>G (p.Thr390Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003082261] |
Chr1:183563444 [GRCh38]
Chr1:183532579 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1468+19C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002871823] |
Chr1:183560077 [GRCh38]
Chr1:183529212 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.68A>T (p.Lys23Met) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002766342] |
Chr1:183590262 [GRCh38]
Chr1:183559397 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1284C>T (p.Asn428=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002805607] |
Chr1:183563201 [GRCh38]
Chr1:183532336 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+4A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002741561] |
Chr1:183574483 [GRCh38]
Chr1:183543618 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.222C>T (p.Tyr74=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002875596] |
Chr1:183586930 [GRCh38]
Chr1:183556065 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.930A>T (p.Glu310Asp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003081999] |
Chr1:183565774 [GRCh38]
Chr1:183534909 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.129_130delinsCT (p.Gly44Cys) |
indel |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002643164] |
Chr1:183590200..183590201 [GRCh38]
Chr1:183559335..183559336 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.502-18A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003048293] |
Chr1:183573310 [GRCh38]
Chr1:183542445 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.4T>G (p.Ser2Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003091115] |
Chr1:183590326 [GRCh38]
Chr1:183559461 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.855+10G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003031921] |
Chr1:183567194 [GRCh38]
Chr1:183536329 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1437G>T (p.Gln479His) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003047153] |
Chr1:183560127 [GRCh38]
Chr1:183529262 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.345G>C (p.Gln115His) |
single nucleotide variant |
Inborn genetic diseases [RCV002792607] |
Chr1:183577620 [GRCh38]
Chr1:183546755 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1027-6A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003061429] |
Chr1:183563591 [GRCh38]
Chr1:183532726 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.574C>T (p.Gln192Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002648228] |
Chr1:183573220 [GRCh38]
Chr1:183542355 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.488T>C (p.Met163Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002833919] |
Chr1:183574500 [GRCh38]
Chr1:183543635 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.958C>G (p.Pro320Ala) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002629578] |
Chr1:183565746 [GRCh38]
Chr1:183534881 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.65G>A (p.Trp22Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002671990] |
Chr1:183590265 [GRCh38]
Chr1:183559400 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.855+15A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002899677] |
Chr1:183567189 [GRCh38]
Chr1:183536324 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1491G>A (p.Gly497=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002898858] |
Chr1:183556208 [GRCh38]
Chr1:183525343 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1000+8G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003090814] |
Chr1:183565696 [GRCh38]
Chr1:183534831 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003011569] |
Chr1:183556179 [GRCh38]
Chr1:183525314 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.172_174del (p.Lys58del) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002648229] |
Chr1:183590156..183590158 [GRCh38]
Chr1:183559291..183559293 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.259T>A (p.Tyr87Asn) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003065698] |
Chr1:183577706 [GRCh38]
Chr1:183546841 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1190G>A (p.Arg397Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002604952] |
Chr1:183563295 [GRCh38]
Chr1:183532430 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002583865] |
Chr1:183556175..183556176 [GRCh38]
Chr1:183525310..183525311 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.855+20_855+23del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002655035] |
Chr1:183567181..183567184 [GRCh38]
Chr1:183536316..183536319 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.338G>A (p.Gly113Glu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003051723] |
Chr1:183577627 [GRCh38]
Chr1:183546762 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.596T>A (p.Leu199Gln) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002814461] |
Chr1:183573198 [GRCh38]
Chr1:183542333 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.173A>G (p.Lys58Arg) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002586633] |
Chr1:183590157 [GRCh38]
Chr1:183559292 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.417del (p.Ala140fs) |
deletion |
Chronic granulomatous disease [RCV003155833]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497976] |
Chr1:183574571 [GRCh38]
Chr1:183543706 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic |
| NM_000433.4(NCF2):c.944C>A (p.Ser315Tyr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003132857] |
Chr1:183565760 [GRCh38]
Chr1:183534895 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.500G>A (p.Trp167Ter) |
single nucleotide variant |
Chronic granulomatous disease [RCV003226674]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603153] |
Chr1:183574488 [GRCh38]
Chr1:183543623 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic |
| NM_000433.4(NCF2):c.887C>A (p.Pro296Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003287234] |
Chr1:183566957 [GRCh38]
Chr1:183536092 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter) |
single nucleotide variant |
Chronic granulomatous disease [RCV003331828]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497992] |
Chr1:183563513 [GRCh38]
Chr1:183532648 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.174+14C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604172] |
Chr1:183590142 [GRCh38]
Chr1:183559277 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.366+17C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003874125] |
Chr1:183577582 [GRCh38]
Chr1:183546717 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+11G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003874887] |
Chr1:183590145 [GRCh38]
Chr1:183559280 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+14C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003874686] |
Chr1:183590142 [GRCh38]
Chr1:183559277 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603767] |
Chr1:183563305 [GRCh38]
Chr1:183532440 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1179-20T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603810] |
Chr1:183563326 [GRCh38]
Chr1:183532461 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.939G>C (p.Pro313=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603885] |
Chr1:183565765 [GRCh38]
Chr1:183534900 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.922C>T (p.Gln308Ter) |
single nucleotide variant |
NCF2-related condition [RCV003403065] |
Chr1:183566922 [GRCh38]
Chr1:183536057 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1290+17G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602702] |
Chr1:183563178 [GRCh38]
Chr1:183532313 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.366+12A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602722] |
Chr1:183577587 [GRCh38]
Chr1:183546722 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1178+16G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602990] |
Chr1:183563418 [GRCh38]
Chr1:183532553 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1026+11T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603264] |
Chr1:183563994 [GRCh38]
Chr1:183533129 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-8C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603265] |
Chr1:183586985 [GRCh38]
Chr1:183556120 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+20A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604109] |
Chr1:183574467 [GRCh38]
Chr1:183543602 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-13C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604180] |
Chr1:183563598 [GRCh38]
Chr1:183532733 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.948C>T (p.Asp316=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604354] |
Chr1:183565756 [GRCh38]
Chr1:183534891 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1469-1G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602671] |
Chr1:183556231 [GRCh38]
Chr1:183525366 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.378C>T (p.Asn126=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602857] |
Chr1:183574610 [GRCh38]
Chr1:183543745 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.670-12A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603192] |
Chr1:183569197 [GRCh38]
Chr1:183538332 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1035G>A (p.Lys345=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604615] |
Chr1:183563577 [GRCh38]
Chr1:183532712 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.465A>G (p.Arg155=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604660] |
Chr1:183574523 [GRCh38]
Chr1:183543658 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.75C>T (p.Ala25=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604719] |
Chr1:183590255 [GRCh38]
Chr1:183559390 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-15C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603023] |
Chr1:183565794 [GRCh38]
Chr1:183534929 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.105C>T (p.Pro35=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604747] |
Chr1:183590225 [GRCh38]
Chr1:183559360 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.546G>A (p.Leu182=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603218] |
Chr1:183573248 [GRCh38]
Chr1:183542383 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1026+16C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604826] |
Chr1:183563989 [GRCh38]
Chr1:183533124 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-12T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604851] |
Chr1:183586989 [GRCh38]
Chr1:183556124 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.936T>C (p.Ser312=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604898] |
Chr1:183565768 [GRCh38]
Chr1:183534903 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.669+20C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602750] |
Chr1:183570760 [GRCh38]
Chr1:183539895 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-6A>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003605072] |
Chr1:183563591 [GRCh38]
Chr1:183532726 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.669+17C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602705] |
Chr1:183570763 [GRCh38]
Chr1:183539898 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-15T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602764] |
Chr1:183563600 [GRCh38]
Chr1:183532735 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-12del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602920] |
Chr1:183563597 [GRCh38]
Chr1:183532732 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.453G>A (p.Lys151=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603238] |
Chr1:183574535 [GRCh38]
Chr1:183543670 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1576G>C (p.Val526Leu) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603737] |
Chr1:183556123 [GRCh38]
Chr1:183525258 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.670-7T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603747] |
Chr1:183569192 [GRCh38]
Chr1:183538327 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1291-9T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602933] |
Chr1:183560282 [GRCh38]
Chr1:183529417 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1001-14dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603245] |
Chr1:183564043..183564044 [GRCh38]
Chr1:183533178..183533179 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1209G>A (p.Val403=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602637] |
Chr1:183563276 [GRCh38]
Chr1:183532411 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.615G>A (p.Val205=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003602955] |
Chr1:183570834 [GRCh38]
Chr1:183539969 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.366+15dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604698] |
Chr1:183577583..183577584 [GRCh38]
Chr1:183546718..183546719 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.477C>T (p.Ile159=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603977]|NCF2-related condition [RCV003893360] |
Chr1:183574511 [GRCh38]
Chr1:183543646 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1137G>A (p.Val379=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604764] |
Chr1:183563475 [GRCh38]
Chr1:183532610 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1179-10C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003878312] |
Chr1:183563316 [GRCh38]
Chr1:183532451 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.897G>A (p.Leu299=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604151] |
Chr1:183566947 [GRCh38]
Chr1:183536082 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.168A>G (p.Ala56=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604960] |
Chr1:183590162 [GRCh38]
Chr1:183559297 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1179-20T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604295] |
Chr1:183563326 [GRCh38]
Chr1:183532461 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.258-4G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604305] |
Chr1:183577711 [GRCh38]
Chr1:183546846 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.618A>G (p.Ala206=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604306] |
Chr1:183570831 [GRCh38]
Chr1:183539966 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+11G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604418] |
Chr1:183590145 [GRCh38]
Chr1:183559280 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.777C>T (p.Leu259=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604467] |
Chr1:183567282 [GRCh38]
Chr1:183536417 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.9G>A (p.Leu3=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003827798] |
Chr1:183590321 [GRCh38]
Chr1:183559456 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.741G>C (p.Val247=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603598] |
Chr1:183567318 [GRCh38]
Chr1:183536453 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.703G>A (p.Glu235Lys) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603676] |
Chr1:183569152 [GRCh38]
Chr1:183538287 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_000433.4(NCF2):c.246C>A (p.Tyr82Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003605052] |
Chr1:183586906 [GRCh38]
Chr1:183556041 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.367-4C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604293] |
Chr1:183574625 [GRCh38]
Chr1:183543760 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.789A>G (p.Pro263=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604797] |
Chr1:183567270 [GRCh38]
Chr1:183536405 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.144T>C (p.Thr48=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003605075] |
Chr1:183590186 [GRCh38]
Chr1:183559321 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.243C>T (p.Tyr81=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603612] |
Chr1:183586909 [GRCh38]
Chr1:183556044 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1182_1183delinsCT (p.Arg395Trp) |
indel |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603847] |
Chr1:183563302..183563303 [GRCh38]
Chr1:183532437..183532438 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1245C>A (p.Gly415=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604054] |
Chr1:183563240 [GRCh38]
Chr1:183532375 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1116C>T (p.Tyr372=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604070] |
Chr1:183563496 [GRCh38]
Chr1:183532631 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.537G>A (p.Val179=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604420] |
Chr1:183573257 [GRCh38]
Chr1:183542392 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1383A>G (p.Gln461=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604475] |
Chr1:183560181 [GRCh38]
Chr1:183529316 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.924+18C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003882039] |
Chr1:183566902 [GRCh38]
Chr1:183536037 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-2A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604981] |
Chr1:183567347 [GRCh38]
Chr1:183536482 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.1413C>A (p.Thr471=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604985] |
Chr1:183560151 [GRCh38]
Chr1:183529286 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-18T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003605024] |
Chr1:183567363 [GRCh38]
Chr1:183536498 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-2A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003881640] |
Chr1:183565781 [GRCh38]
Chr1:183534916 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.174+10G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604483] |
Chr1:183590146 [GRCh38]
Chr1:183559281 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.924+7T>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604133] |
Chr1:183566913 [GRCh38]
Chr1:183536048 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+14C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003881750] |
Chr1:183567190 [GRCh38]
Chr1:183536325 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.670-20T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604641] |
Chr1:183569205 [GRCh38]
Chr1:183538340 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.513A>C (p.Leu171=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604668] |
Chr1:183573281 [GRCh38]
Chr1:183542416 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.501+18G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604685] |
Chr1:183574469 [GRCh38]
Chr1:183543604 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.610-7A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604702] |
Chr1:183570846 [GRCh38]
Chr1:183539981 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-9C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003879422] |
Chr1:183567354 [GRCh38]
Chr1:183536489 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.873C>A (p.Cys291Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604740] |
Chr1:183566971 [GRCh38]
Chr1:183536106 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.807C>T (p.Val269=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003827690] |
Chr1:183567252 [GRCh38]
Chr1:183536387 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-11T>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003880701] |
Chr1:183574632 [GRCh38]
Chr1:183543767 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.174+14C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604350] |
Chr1:183590142 [GRCh38]
Chr1:183559277 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1026+19A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604876] |
Chr1:183563986 [GRCh38]
Chr1:183533121 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-5C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003604396] |
Chr1:183586982 [GRCh38]
Chr1:183556117 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.669+18T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497520] |
Chr1:183570762 [GRCh38]
Chr1:183539897 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.441C>A (p.Ala147=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497764] |
Chr1:183574547 [GRCh38]
Chr1:183543682 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1419A>G (p.Pro473=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497820] |
Chr1:183560145 [GRCh38]
Chr1:183529280 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1001-4T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603401] |
Chr1:183564034 [GRCh38]
Chr1:183533169 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.258-16T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498349] |
Chr1:183577723 [GRCh38]
Chr1:183546858 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.502-17C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499318] |
Chr1:183573309 [GRCh38]
Chr1:183542444 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.669+16C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498377] |
Chr1:183570764 [GRCh38]
Chr1:183539899 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.258-18T>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498532] |
Chr1:183577725 [GRCh38]
Chr1:183546860 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.339G>C (p.Gly113=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498646] |
Chr1:183577626 [GRCh38]
Chr1:183546761 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.670-17T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498670] |
Chr1:183569202 [GRCh38]
Chr1:183538337 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-7C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499442] |
Chr1:183565786 [GRCh38]
Chr1:183534921 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.126C>T (p.Asn42=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499453] |
Chr1:183590204 [GRCh38]
Chr1:183559339 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.669+5_669+15del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499345] |
Chr1:183570765..183570775 [GRCh38]
Chr1:183539900..183539910 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1000+15A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498117] |
Chr1:183565689 [GRCh38]
Chr1:183534824 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.312C>T (p.Asn104=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498686] |
Chr1:183577653 [GRCh38]
Chr1:183546788 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-8G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499679] |
Chr1:183565787 [GRCh38]
Chr1:183534922 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1347C>T (p.Asn449=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499836] |
Chr1:183560217 [GRCh38]
Chr1:183529352 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.343C>T (p.Gln115Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603385] |
Chr1:183577622 [GRCh38]
Chr1:183546757 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.669+10T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497639] |
Chr1:183570770 [GRCh38]
Chr1:183539905 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1107G>A (p.Gly369=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003833528] |
Chr1:183563505 [GRCh38]
Chr1:183532640 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-4T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498226] |
Chr1:183563589 [GRCh38]
Chr1:183532724 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.135C>T (p.Cys45=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498853] |
Chr1:183590195 [GRCh38]
Chr1:183559330 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.430T>C (p.Leu144=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003851764] |
Chr1:183574558 [GRCh38]
Chr1:183543693 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.993G>A (p.Leu331=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003816643] |
Chr1:183565711 [GRCh38]
Chr1:183534846 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1000+8G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498643] |
Chr1:183565696 [GRCh38]
Chr1:183534831 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.856-7A>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603440] |
Chr1:183566995 [GRCh38]
Chr1:183536130 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-8C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498944] |
Chr1:183586985 [GRCh38]
Chr1:183556120 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.577C>T (p.Leu193=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603529] |
Chr1:183573217 [GRCh38]
Chr1:183542352 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.255G>A (p.Glu85=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499897] |
Chr1:183586897 [GRCh38]
Chr1:183556032 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1291-6T>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499013] |
Chr1:183560279 [GRCh38]
Chr1:183529414 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.236del (p.Met79fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499427] |
Chr1:183586916 [GRCh38]
Chr1:183556051 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.714-17G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499602] |
Chr1:183567362 [GRCh38]
Chr1:183536497 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1038_1039del (p.Ser347fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499910] |
Chr1:183563573..183563574 [GRCh38]
Chr1:183532708..183532709 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.475del (p.Ile159fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499911] |
Chr1:183574513 [GRCh38]
Chr1:183543648 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.670-13G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499761] |
Chr1:183569198 [GRCh38]
Chr1:183538333 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+11G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003855712] |
Chr1:183567193 [GRCh38]
Chr1:183536328 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.609+13G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498027] |
Chr1:183573172 [GRCh38]
Chr1:183542307 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1095G>A (p.Lys365=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497825] |
Chr1:183563517 [GRCh38]
Chr1:183532652 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1000+14G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498296] |
Chr1:183565690 [GRCh38]
Chr1:183534825 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1179-12A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498324] |
Chr1:183563318 [GRCh38]
Chr1:183532453 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.57G>A (p.Lys19=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003855794] |
Chr1:183590273 [GRCh38]
Chr1:183559408 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+10A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498397] |
Chr1:183563185 [GRCh38]
Chr1:183532320 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.924+17G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497494] |
Chr1:183566903 [GRCh38]
Chr1:183536038 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.687C>G (p.Pro229=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499212] |
Chr1:183569168 [GRCh38]
Chr1:183538303 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+15G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498062] |
Chr1:183563180 [GRCh38]
Chr1:183532315 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.714-8C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499206] |
Chr1:183567353 [GRCh38]
Chr1:183536488 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.366+12dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499428] |
Chr1:183577586..183577587 [GRCh38]
Chr1:183546721..183546722 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.609+2T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498252] |
Chr1:183573183 [GRCh38]
Chr1:183542318 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_000433.4(NCF2):c.78G>A (p.Leu26=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498341] |
Chr1:183590252 [GRCh38]
Chr1:183559387 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1468+11C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498450] |
Chr1:183560085 [GRCh38]
Chr1:183529220 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1377C>T (p.Gly459=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498382] |
Chr1:183560187 [GRCh38]
Chr1:183529322 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1038C>T (p.Leu346=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498395] |
Chr1:183563574 [GRCh38]
Chr1:183532709 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.300G>A (p.Gln100=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499885] |
Chr1:183577665 [GRCh38]
Chr1:183546800 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1026+18T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003816284] |
Chr1:183563987 [GRCh38]
Chr1:183533122 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.172A>T (p.Lys58Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603318] |
Chr1:183590158 [GRCh38]
Chr1:183559293 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.502-7G>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003497637] |
Chr1:183573299 [GRCh38]
Chr1:183542434 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.713+10A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603486] |
Chr1:183569132 [GRCh38]
Chr1:183538267 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1165_1171del (p.His389fs) |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498140] |
Chr1:183563441..183563447 [GRCh38]
Chr1:183532576..183532582 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1173G>A (p.Lys391=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003851610] |
Chr1:183563439 [GRCh38]
Chr1:183532574 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1469-5A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498314] |
Chr1:183556235 [GRCh38]
Chr1:183525370 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.925-19C>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498466] |
Chr1:183565798 [GRCh38]
Chr1:183534933 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.840C>G (p.Val280=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498541] |
Chr1:183567219 [GRCh38]
Chr1:183536354 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1027-19T>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498415] |
Chr1:183563604 [GRCh38]
Chr1:183532739 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1191G>A (p.Arg397=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498547] |
Chr1:183563294 [GRCh38]
Chr1:183532429 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.229C>T (p.Arg77Ter) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499912] |
Chr1:183586923 [GRCh38]
Chr1:183556058 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.1581G>A (p.Ter527=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499883] |
Chr1:183556118 [GRCh38]
Chr1:183525253 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003498798] |
Chr1:183590328 [GRCh38]
Chr1:183559463 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.987C>G (p.Pro329=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499017] |
Chr1:183565717 [GRCh38]
Chr1:183534852 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.900G>A (p.Arg300=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499224] |
Chr1:183566944 [GRCh38]
Chr1:183536079 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.175-15C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499356] |
Chr1:183586992 [GRCh38]
Chr1:183556127 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1178+17C>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603462] |
Chr1:183563417 [GRCh38]
Chr1:183532552 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.610-8G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003603469] |
Chr1:183570847 [GRCh38]
Chr1:183539982 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NC_000001.11:g.183563586del |
deletion |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499379] |
Chr1:183563585 [GRCh38]
Chr1:183532720 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.855+7A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499470] |
Chr1:183567197 [GRCh38]
Chr1:183536332 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.742C>T (p.Leu248=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003499638] |
Chr1:183567317 [GRCh38]
Chr1:183536452 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1468+18A>G |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003861739] |
Chr1:183560078 [GRCh38]
Chr1:183529213 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.612C>A (p.Val204=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003862781] |
Chr1:183570837 [GRCh38]
Chr1:183539972 [GRCh37]
Chr1:1q25.3 |
likely benign |
| GRCh37/hg19 1q25.3(chr1:183494419-183633454)x1 |
copy number loss |
not specified [RCV003986395] |
Chr1:183494419..183633454 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_000433.4(NCF2):c.550C>A (p.Arg184=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003868098] |
Chr1:183573244 [GRCh38]
Chr1:183542379 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1290+12G>A |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003872180] |
Chr1:183563183 [GRCh38]
Chr1:183532318 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.367-11T>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003870428] |
Chr1:183574632 [GRCh38]
Chr1:183543767 [GRCh37]
Chr1:1q25.3 |
likely benign |
| GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 |
copy number loss |
not specified [RCV003987250] |
Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1 |
pathogenic |
| NM_000433.4(NCF2):c.1179-7C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003847041] |
Chr1:183563313 [GRCh38]
Chr1:183532448 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1404T>C (p.Tyr468=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003863515] |
Chr1:183560160 [GRCh38]
Chr1:183529295 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+17G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003870802] |
Chr1:183567187 [GRCh38]
Chr1:183536322 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.855+8G>C |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003819154] |
Chr1:183567196 [GRCh38]
Chr1:183536331 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1503G>T (p.Gly501=) |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003840750] |
Chr1:183556196 [GRCh38]
Chr1:183525331 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.1178+13C>T |
single nucleotide variant |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003824253] |
Chr1:183563421 [GRCh38]
Chr1:183532556 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_000433.4(NCF2):c.623_624del (p.Val208fs) |
microsatellite |
Chronic granulomatous disease [RCV003988500] |
Chr1:183570825..183570826 [GRCh38]
Chr1:183539960..183539961 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_000433.4(NCF2):c.-4A>T |
single nucleotide variant |
NCF2-related condition [RCV003942244] |
Chr1:183590333 [GRCh38]
Chr1:183559468 [GRCh37]
Chr1:1q25.3 |
likely benign |
