| NM_005060.3(RORC):c.846G>A (p.Arg282=) |
single nucleotide variant |
Malignant melanoma [RCV000064141] |
Chr1:151814661 [GRCh38]
Chr1:151787137 [GRCh37]
Chr1:150053761 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_005060.3(RORC):c.845G>A (p.Arg282Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064142] |
Chr1:151814662 [GRCh38]
Chr1:151787138 [GRCh37]
Chr1:150053762 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_005060.3(RORC):c.409C>T (p.Pro137Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064143] |
Chr1:151815315 [GRCh38]
Chr1:151787791 [GRCh37]
Chr1:150054415 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_005060.3(RORC):c.309C>T (p.Phe103=) |
single nucleotide variant |
Malignant melanoma [RCV000064144] |
Chr1:151815415 [GRCh38]
Chr1:151787891 [GRCh37]
Chr1:150054515 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_005060.4(RORC):c.422C>T (p.Ala141Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001065352]|not provided [RCV000122518] |
Chr1:151815302 [GRCh38]
Chr1:151787778 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_005060.4(RORC):c.985C>T (p.Gln329Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201359] |
Chr1:151813569 [GRCh38]
Chr1:151786045 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_005060.4(RORC):c.1321C>T (p.Gln441Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201397] |
Chr1:151811399 [GRCh38]
Chr1:151783875 [GRCh37]
Chr1:1q21.3 |
pathogenic|uncertain significance |
| NM_005060.4(RORC):c.113C>T (p.Ser38Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201419] |
Chr1:151817238 [GRCh38]
Chr1:151789714 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000223957] |
Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| NM_005060.4(RORC):c.1477G>A (p.Val493Met) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001324956]|not specified [RCV000238770] |
Chr1:151807552 [GRCh38]
Chr1:151780028 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.749G>A (p.Ser250Asn) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000529290]|not provided [RCV003409825] |
Chr1:151814975 [GRCh38]
Chr1:151787451 [GRCh37]
Chr1:1q21.3 |
likely benign |
| 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_005060.4(RORC):c.186C>T (p.Asn62=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000540237]|not provided [RCV004714075] |
Chr1:151816776 [GRCh38]
Chr1:151789252 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.28C>T (p.Arg10Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000555512]|RORC-related disorder [RCV003925719] |
Chr1:151831737 [GRCh38]
Chr1:151831737..151831738 [GRCh38]
Chr1:151804213 [GRCh37]
Chr1:151804213..151804214 [GRCh37]
Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005060.4(RORC):c.1125G>A (p.Thr375=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652791] |
Chr1:151813288 [GRCh38]
Chr1:151785764 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.990C>T (p.Tyr330=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652792]|not provided [RCV001703228] |
Chr1:151813564 [GRCh38]
Chr1:151786040 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_005060.4(RORC):c.33C>T (p.Ala11=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652793] |
Chr1:151831732 [GRCh38]
Chr1:151804208 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1070C>T (p.Ala357Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652787] |
Chr1:151813343 [GRCh38]
Chr1:151785819 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_005060.4(RORC):c.595T>C (p.Ser199Pro) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652788] |
Chr1:151815129 [GRCh38]
Chr1:151787605 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1247A>G (p.Glu416Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652789] |
Chr1:151812985 [GRCh38]
Chr1:151785461 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.489G>A (p.Ser163=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652790] |
Chr1:151815235 [GRCh38]
Chr1:151787711 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 |
copy number gain |
not provided [RCV000684655] |
Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_005060.4(RORC):c.253C>T (p.His85Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000707497]|RORC-related disorder [RCV004751673]|not provided [RCV004691289] |
Chr1:151816709 [GRCh38]
Chr1:151789185 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| 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 |
| NM_005060.4(RORC):c.1067-4C>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000918166]|not provided [RCV004715356] |
Chr1:151813350 [GRCh38]
Chr1:151785826 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1286-10C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001429250] |
Chr1:151811444 [GRCh38]
Chr1:151783920 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1334A>G (p.Asn445Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000915579] |
Chr1:151811386 [GRCh38]
Chr1:151783862 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1086G>C (p.Leu362=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001398427] |
Chr1:151813327 [GRCh38]
Chr1:151785803 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1406A>G (p.Lys469Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000884930] |
Chr1:151807623 [GRCh38]
Chr1:151780099 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.622C>A (p.Arg208=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000881854]|RORC-related disorder [RCV003920555] |
Chr1:151815102 [GRCh38]
Chr1:151787578 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.198C>G (p.Ser66=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001471943] |
Chr1:151816764 [GRCh38]
Chr1:151789240 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.987G>A (p.Gln329=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001416697] |
Chr1:151813567 [GRCh38]
Chr1:151786043 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1118A>G (p.Asn373Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001071141]|RORC-related disorder [RCV003413895] |
Chr1:151813295 [GRCh38]
Chr1:151785771 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.686G>A (p.Cys229Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001058561] |
Chr1:151815038 [GRCh38]
Chr1:151787514 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1356T>A (p.His452Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001060896] |
Chr1:151811364 [GRCh38]
Chr1:151783840 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1456T>A (p.Phe486Ile) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000793258] |
Chr1:151807573 [GRCh38]
Chr1:151780049 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.612C>T (p.Tyr204=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000907051] |
Chr1:151815112 [GRCh38]
Chr1:151787588 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.312C>T (p.Gly104=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001480137] |
Chr1:151815412 [GRCh38]
Chr1:151787888 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1488C>T (p.Ala496=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002065958] |
Chr1:151807541 [GRCh38]
Chr1:151780017 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.157-10C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001480132] |
Chr1:151816815 [GRCh38]
Chr1:151789291 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000958487]|RORC-related disorder [RCV004751834]|not provided [RCV001702864]|not specified [RCV001726389] |
Chr1:151811329 [GRCh38]
Chr1:151783805 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_005060.4(RORC):c.1545G>T (p.Gly515=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000800954] |
Chr1:151807484 [GRCh38]
Chr1:151779960 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.560C>G (p.Ser187Cys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000797903]|Inborn genetic diseases [RCV003243305] |
Chr1:151815164 [GRCh38]
Chr1:151787640 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.754G>A (p.Gly252Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000819503] |
Chr1:151814970 [GRCh38]
Chr1:151787446 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1328A>C (p.Gln443Pro) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000821977] |
Chr1:151811392 [GRCh38]
Chr1:151783868 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1099C>G (p.Arg367Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000803819] |
Chr1:151813314 [GRCh38]
Chr1:151785790 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1284C>A (p.Ala428=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000808617] |
Chr1:151812948 [GRCh38]
Chr1:151785424 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1285C>T (p.His429Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000812904]|not provided [RCV004691308] |
Chr1:151812947 [GRCh38]
Chr1:151785423 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1239C>T (p.Ser413=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000914763] |
Chr1:151812993 [GRCh38]
Chr1:151785469 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.245G>A (p.Arg82Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000792128]|Inborn genetic diseases [RCV003166089] |
Chr1:151816717 [GRCh38]
Chr1:151789193 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.694C>T (p.Arg232Cys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000795736] |
Chr1:151815030 [GRCh38]
Chr1:151787506 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.888C>T (p.Arg296=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000939034] |
Chr1:151814619 [GRCh38]
Chr1:151787095 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.598T>C (p.Cys200Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000794337]|Inborn genetic diseases [RCV004027483] |
Chr1:151815126 [GRCh38]
Chr1:151787602 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.177G>C (p.Gln59His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000819406] |
Chr1:151816785 [GRCh38]
Chr1:151789261 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.20G>A (p.Arg7Lys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000803780] |
Chr1:151831745 [GRCh38]
Chr1:151804221 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3 |
copy number gain |
not provided [RCV001005138] |
Chr1:151798754..152306536 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.279G>A (p.Ala93=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000936250] |
Chr1:151816683 [GRCh38]
Chr1:151789159 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.35C>T (p.Ser12Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001226853]|RORC-related disorder [RCV003414024] |
Chr1:151831730 [GRCh38]
Chr1:151804206 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1142A>T (p.Lys381Ile) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001239159] |
Chr1:151813271 [GRCh38]
Chr1:151785747 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.14C>G (p.Pro5Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001242920] |
Chr1:151831751 [GRCh38]
Chr1:151804227 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.697T>C (p.Phe233Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001203894] |
Chr1:151815027 [GRCh38]
Chr1:151787503 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.187G>A (p.Ala63Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001204415] |
Chr1:151816775 [GRCh38]
Chr1:151789251 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.466G>A (p.Gly156Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001211656]|Inborn genetic diseases [RCV004033823] |
Chr1:151815258 [GRCh38]
Chr1:151787734 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.931A>C (p.Lys311Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001197549] |
Chr1:151814576 [GRCh38]
Chr1:151787052 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1329G>A (p.Gln443=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001412184]|RORC-related disorder [RCV003920845] |
Chr1:151811391 [GRCh38]
Chr1:151783867 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.828C>T (p.Ser276=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001405990] |
Chr1:151814679 [GRCh38]
Chr1:151787155 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.465C>T (p.Asp155=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000916735] |
Chr1:151815259 [GRCh38]
Chr1:151787735 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1358A>T (p.His453Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001035431] |
Chr1:151811362 [GRCh38]
Chr1:151783838 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.334G>A (p.Asp112Asn) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001219781] |
Chr1:151815390 [GRCh38]
Chr1:151787866 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001219986]|Inborn genetic diseases [RCV004659405] |
Chr1:151815350 [GRCh38]
Chr1:151787826 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_005060.4(RORC):c.1391C>T (p.Ala464Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001051336] |
Chr1:151811329 [GRCh38]
Chr1:151783805 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.407C>A (p.Thr136Asn) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001224003]|Inborn genetic diseases [RCV004032494] |
Chr1:151815317 [GRCh38]
Chr1:151787793 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.38G>A (p.Arg13Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001241332]|Inborn genetic diseases [RCV004034677] |
Chr1:151831727 [GRCh38]
Chr1:151804203 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_005060.4(RORC):c.708C>T (p.His236=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000935620] |
Chr1:151815016 [GRCh38]
Chr1:151787492 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.675C>G (p.Thr225=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001461713] |
Chr1:151815049 [GRCh38]
Chr1:151787525 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.8G>A (p.Arg3Lys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001047927] |
Chr1:151831757 [GRCh38]
Chr1:151804233 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.226G>A (p.Asp76Asn) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001034822] |
Chr1:151816736 [GRCh38]
Chr1:151789212 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.737A>C (p.Gln246Pro) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001056447] |
Chr1:151814987 [GRCh38]
Chr1:151787463 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.580G>A (p.Gly194Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001201430] |
Chr1:151815144 [GRCh38]
Chr1:151787620 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1003G>T (p.Ala335Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001036223] |
Chr1:151813551 [GRCh38]
Chr1:151786027 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1304A>G (p.Glu435Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001205492] |
Chr1:151811416 [GRCh38]
Chr1:151783892 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.394C>T (p.Pro132Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001058345] |
Chr1:151815330 [GRCh38]
Chr1:151787806 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.37C>T (p.Arg13Trp) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001217232]|Inborn genetic diseases [RCV004034024] |
Chr1:151831728 [GRCh38]
Chr1:151804204 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.40+1G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001069749] |
Chr1:151831724 [GRCh38]
Chr1:151804200 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.711G>T (p.Arg237Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001041366] |
Chr1:151815013 [GRCh38]
Chr1:151787489 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1490C>T (p.Ala497Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001037724] |
Chr1:151807539 [GRCh38]
Chr1:151780015 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1468C>T (p.His490Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001320181] |
Chr1:151807561 [GRCh38]
Chr1:151780037 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1488C>A (p.Ala496=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001342714] |
Chr1:151807541 [GRCh38]
Chr1:151780017 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001312664] |
Chr1:151816774 [GRCh38]
Chr1:151789250 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.201C>T (p.Cys67=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001415171] |
Chr1:151816761 [GRCh38]
Chr1:151789237 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1288C>T (p.Arg430Trp) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001370015] |
Chr1:151811432 [GRCh38]
Chr1:151783908 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.382C>G (p.Gln128Glu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001338871] |
Chr1:151815342 [GRCh38]
Chr1:151787818 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1401A>C (p.Pro467=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001414151] |
Chr1:151807628 [GRCh38]
Chr1:151780104 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.623G>A (p.Arg208Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001343877]|Inborn genetic diseases [RCV003169657] |
Chr1:151815101 [GRCh38]
Chr1:151787577 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| 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_005060.4(RORC):c.1535C>G (p.Ser512Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001329360] |
Chr1:151807494 [GRCh38]
Chr1:151779970 [GRCh37]
Chr1:1q21.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005060.4(RORC):c.880C>T (p.Arg294Trp) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001298892] |
Chr1:151814627 [GRCh38]
Chr1:151787103 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.852A>T (p.Thr284=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001394609] |
Chr1:151814655 [GRCh38]
Chr1:151787131 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.770G>A (p.Arg257His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001367080] |
Chr1:151814954 [GRCh38]
Chr1:151787430 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.905G>A (p.Arg302Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001307723] |
Chr1:151814602 [GRCh38]
Chr1:151787078 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1427G>C (p.Cys476Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001307197] |
Chr1:151807602 [GRCh38]
Chr1:151780078 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.64C>T (p.His22Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001371995]|Inborn genetic diseases [RCV004037519]|not provided [RCV004691433] |
Chr1:151829435 [GRCh38]
Chr1:151801911 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.955C>A (p.Arg319=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001464761] |
Chr1:151813599 [GRCh38]
Chr1:151786075 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.864G>A (p.Arg288=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001465778] |
Chr1:151814643 [GRCh38]
Chr1:151787119 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.264G>A (p.Leu88=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001403536] |
Chr1:151816698 [GRCh38]
Chr1:151789174 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.378A>G (p.Gln126=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001472149] |
Chr1:151815346 [GRCh38]
Chr1:151787822 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.471G>A (p.Gln157=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001404416] |
Chr1:151815253 [GRCh38]
Chr1:151787729 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.114G>A (p.Ser38=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001430044] |
Chr1:151817237 [GRCh38]
Chr1:151789713 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.327G>A (p.Lys109=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001401552] |
Chr1:151815397 [GRCh38]
Chr1:151787873 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.934-1G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001379824] |
Chr1:151813621 [GRCh38]
Chr1:151786097 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_005060.4(RORC):c.420G>A (p.Gly140=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001429727] |
Chr1:151815304 [GRCh38]
Chr1:151787780 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1125G>T (p.Thr375=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001502032] |
Chr1:151813288 [GRCh38]
Chr1:151785764 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.41-17C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001511917]|not provided [RCV004715436]|not specified [RCV003399274] |
Chr1:151829475 [GRCh38]
Chr1:151801951 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.960T>C (p.Cys320=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001518527] |
Chr1:151813594 [GRCh38]
Chr1:151786070 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1530C>T (p.Thr510=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001522938] |
Chr1:151807499 [GRCh38]
Chr1:151779975 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1014C>T (p.Leu338=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001464709] |
Chr1:151813540 [GRCh38]
Chr1:151786016 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1512G>A (p.Glu504=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001495958]|RORC-related disorder [RCV003980433] |
Chr1:151807517 [GRCh38]
Chr1:151779993 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1089T>C (p.Val363=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001516586] |
Chr1:151813324 [GRCh38]
Chr1:151785800 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+9T>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001471186] |
Chr1:151817186 [GRCh38]
Chr1:151789662 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.812-9C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001513975]|RORC-related disorder [RCV003921103] |
Chr1:151814704 [GRCh38]
Chr1:151787180 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_005060.4(RORC):c.780G>A (p.Pro260=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001461842] |
Chr1:151814944 [GRCh38]
Chr1:151787420 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1101G>A (p.Arg367=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001418519] |
Chr1:151813312 [GRCh38]
Chr1:151785788 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.156+24A>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001794914]|not provided [RCV004714341]|not specified [RCV003401720] |
Chr1:151817171 [GRCh38]
Chr1:151789647 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.542G>C (p.Gly181Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001874079]|Inborn genetic diseases [RCV004038995] |
Chr1:151815182 [GRCh38]
Chr1:151787658 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.395C>G (p.Pro132Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001863743] |
Chr1:151815329 [GRCh38]
Chr1:151787805 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1121G>A (p.Arg374His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001929241] |
Chr1:151813292 [GRCh38]
Chr1:151785768 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.779C>T (p.Pro260Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001915232] |
Chr1:151814945 [GRCh38]
Chr1:151787421 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.992T>C (p.Val331Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001929134] |
Chr1:151813562 [GRCh38]
Chr1:151786038 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002042786]|Inborn genetic diseases [RCV002642133] |
Chr1:151814644 [GRCh38]
Chr1:151787120 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1395+17G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001968525] |
Chr1:151811308 [GRCh38]
Chr1:151783784 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.29G>A (p.Arg10Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001894684]|Inborn genetic diseases [RCV002551034] |
Chr1:151831736 [GRCh38]
Chr1:151804212 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1124C>T (p.Thr375Met) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001872701]|Inborn genetic diseases [RCV002551137] |
Chr1:151813289 [GRCh38]
Chr1:151785765 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1267C>G (p.Leu423Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001895420] |
Chr1:151812965 [GRCh38]
Chr1:151785441 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1062A>G (p.Lys354=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001908650] |
Chr1:151813492 [GRCh38]
Chr1:151785968 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.67A>G (p.Thr23Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002043292] |
Chr1:151829432 [GRCh38]
Chr1:151801908 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1485A>G (p.Gln495=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001910735] |
Chr1:151807544 [GRCh38]
Chr1:151780020 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_005060.4(RORC):c.811+9C>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001872614] |
Chr1:151814904 [GRCh38]
Chr1:151787380 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_005060.4(RORC):c.373C>T (p.Arg125Trp) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001964790] |
Chr1:151815351 [GRCh38]
Chr1:151787827 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.83T>G (p.Val28Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001942665] |
Chr1:151817268 [GRCh38]
Chr1:151789744 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.719G>A (p.Gly240Glu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001954309] |
Chr1:151815005 [GRCh38]
Chr1:151787481 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.586A>C (p.Asn196His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001962064] |
Chr1:151815138 [GRCh38]
Chr1:151787614 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1250T>C (p.Ile417Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001880379] |
Chr1:151812982 [GRCh38]
Chr1:151785458 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.239G>A (p.Arg80Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001936441] |
Chr1:151816723 [GRCh38]
Chr1:151789199 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.812-8G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001971945] |
Chr1:151814703 [GRCh38]
Chr1:151787179 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.634G>A (p.Glu212Lys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001865031] |
Chr1:151815090 [GRCh38]
Chr1:151787566 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1407G>C (p.Lys469Asn) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002048024] |
Chr1:151807622 [GRCh38]
Chr1:151780098 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NC_000001.10:g.(?_149895434)_(156851434_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] |
Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1 |
uncertain significance |
| NM_005060.4(RORC):c.1447C>G (p.Leu483Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001981405] |
Chr1:151807582 [GRCh38]
Chr1:151780058 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.683G>A (p.Arg228Gln) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001884123] |
Chr1:151815041 [GRCh38]
Chr1:151787517 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.455G>C (p.Gly152Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002018678] |
Chr1:151815269 [GRCh38]
Chr1:151787745 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.858G>T (p.Gln286His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001960185] |
Chr1:151814649 [GRCh38]
Chr1:151787125 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1198A>G (p.Ile400Val) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001906693] |
Chr1:151813034 [GRCh38]
Chr1:151785510 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.587A>G (p.Asn196Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002030659] |
Chr1:151815137 [GRCh38]
Chr1:151787613 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.829G>A (p.Val277Ile) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001952843] |
Chr1:151814678 [GRCh38]
Chr1:151787154 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.189G>A (p.Ala63=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002188878] |
Chr1:151816773 [GRCh38]
Chr1:151789249 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1286-11C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002104538] |
Chr1:151811445 [GRCh38]
Chr1:151783921 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.933+13G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002125240] |
Chr1:151814561 [GRCh38]
Chr1:151787037 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1227C>G (p.Ala409=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002086508] |
Chr1:151813005 [GRCh38]
Chr1:151785481 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1285+8T>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002190531] |
Chr1:151812939 [GRCh38]
Chr1:151785415 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.975C>T (p.Thr325=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002191223] |
Chr1:151813579 [GRCh38]
Chr1:151786055 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.231C>T (p.Arg77=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002168480] |
Chr1:151816731 [GRCh38]
Chr1:151789207 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.558T>C (p.Tyr186=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002129381] |
Chr1:151815166 [GRCh38]
Chr1:151787642 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1175-5A>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002169472] |
Chr1:151813062 [GRCh38]
Chr1:151785538 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1174+15G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002132599] |
Chr1:151813224 [GRCh38]
Chr1:151785700 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.240A>G (p.Arg80=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002116933] |
Chr1:151816722 [GRCh38]
Chr1:151789198 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.40+15G>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002134717] |
Chr1:151831710 [GRCh38]
Chr1:151804186 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.843C>T (p.Tyr281=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002076926] |
Chr1:151814664 [GRCh38]
Chr1:151787140 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.40+12A>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002116871] |
Chr1:151831713 [GRCh38]
Chr1:151804189 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1185G>A (p.Glu395=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002133660] |
Chr1:151813047 [GRCh38]
Chr1:151785523 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.156+15T>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002092752] |
Chr1:151817180 [GRCh38]
Chr1:151789656 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.70+12G>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002212185] |
Chr1:151829417 [GRCh38]
Chr1:151801893 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.70+19G>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002132084] |
Chr1:151829410 [GRCh38]
Chr1:151801886 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.282G>A (p.Leu94=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002148377] |
Chr1:151816680 [GRCh38]
Chr1:151789156 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.711G>A (p.Arg237=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002080311]|not provided [RCV002156716] |
Chr1:151815013 [GRCh38]
Chr1:151787489 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1396-4C>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002137521] |
Chr1:151807637 [GRCh38]
Chr1:151780113 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1002C>T (p.Phe334=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002100746] |
Chr1:151813552 [GRCh38]
Chr1:151786028 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.291C>T (p.Ser97=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002181885] |
Chr1:151816671 [GRCh38]
Chr1:151789147 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1396-8A>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002099240] |
Chr1:151807641 [GRCh38]
Chr1:151780117 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.858G>A (p.Gln286=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002162516] |
Chr1:151814649 [GRCh38]
Chr1:151787125 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1404C>G (p.Pro468=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002098181] |
Chr1:151807625 [GRCh38]
Chr1:151780101 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1286-10C>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002102189] |
Chr1:151811444 [GRCh38]
Chr1:151783920 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.438C>T (p.Thr146=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002104010] |
Chr1:151815286 [GRCh38]
Chr1:151787762 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.108C>T (p.Asp36=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002179742] |
Chr1:151817243 [GRCh38]
Chr1:151789719 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.298+16_298+17del |
deletion |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002181235] |
Chr1:151816647..151816648 [GRCh38]
Chr1:151789123..151789124 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.298+13C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002203798] |
Chr1:151816651 [GRCh38]
Chr1:151789127 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.40+18dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002157730] |
Chr1:151831706..151831707 [GRCh38]
Chr1:151804182..151804183 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.70+16G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002175534] |
Chr1:151829413 [GRCh38]
Chr1:151801889 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1067-13C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002102328] |
Chr1:151813359 [GRCh38]
Chr1:151785835 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.105G>A (p.Gly35=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002158654] |
Chr1:151817246 [GRCh38]
Chr1:151789722 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NC_000001.10:g.(?_151801885)_(152287932_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003116304] |
Chr1:151801885..152287932 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.517C>T (p.Pro173Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002991368] |
Chr1:151815207 [GRCh38]
Chr1:151787683 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.923A>T (p.Tyr308Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002839776] |
Chr1:151814584 [GRCh38]
Chr1:151787060 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.39G>T (p.Arg13=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002842334] |
Chr1:151831726 [GRCh38]
Chr1:151804202 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.916A>T (p.Thr306Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002618679] |
Chr1:151814591 [GRCh38]
Chr1:151787067 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1286-18T>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002881212] |
Chr1:151811452 [GRCh38]
Chr1:151783928 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.156+17dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003098906] |
Chr1:151817177..151817178 [GRCh38]
Chr1:151789653..151789654 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.405G>A (p.Lys135=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002730373] |
Chr1:151815319 [GRCh38]
Chr1:151787795 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1174+9del |
deletion |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002863459] |
Chr1:151813230 [GRCh38]
Chr1:151785706 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.881G>A (p.Arg294Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002753418] |
Chr1:151814626 [GRCh38]
Chr1:151787102 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.129C>T (p.Tyr43=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003076563] |
Chr1:151817222 [GRCh38]
Chr1:151789698 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.718G>C (p.Gly240Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002819204] |
Chr1:151815006 [GRCh38]
Chr1:151787482 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.661G>A (p.Gly221Ser) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002903394] |
Chr1:151815063 [GRCh38]
Chr1:151787539 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.203C>T (p.Thr68Ile) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002800192] |
Chr1:151816759 [GRCh38]
Chr1:151789235 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.485C>T (p.Ser162Phe) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003039623] |
Chr1:151815239 [GRCh38]
Chr1:151787715 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1193G>C (p.Ser398Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002952725] |
Chr1:151813039 [GRCh38]
Chr1:151785515 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.811+18T>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002640278] |
Chr1:151814895 [GRCh38]
Chr1:151787371 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1464C>T (p.His488=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002571758] |
Chr1:151807565 [GRCh38]
Chr1:151780041 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1066+18G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002800098] |
Chr1:151813470 [GRCh38]
Chr1:151785946 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1531G>A (p.Glu511Lys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003035310] |
Chr1:151807498 [GRCh38]
Chr1:151779974 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.73C>G (p.Gln25Glu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003019918] |
Chr1:151817278 [GRCh38]
Chr1:151789754 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1098C>T (p.Cys366=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002571142] |
Chr1:151813315 [GRCh38]
Chr1:151785791 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.429A>G (p.Gly143=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002871035] |
Chr1:151815295 [GRCh38]
Chr1:151787771 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.803C>G (p.Thr268Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002824301] |
Chr1:151814921 [GRCh38]
Chr1:151787397 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.498G>A (p.Leu166=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002690881] |
Chr1:151815226 [GRCh38]
Chr1:151787702 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.313C>T (p.Arg105Cys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002790415] |
Chr1:151815411 [GRCh38]
Chr1:151787887 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.354G>A (p.Val118=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002954304] |
Chr1:151815370 [GRCh38]
Chr1:151787846 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.965A>G (p.His322Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002919208] |
Chr1:151813589 [GRCh38]
Chr1:151786065 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.394C>A (p.Pro132Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003081812] |
Chr1:151815330 [GRCh38]
Chr1:151787806 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.299-14T>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003082885] |
Chr1:151815439 [GRCh38]
Chr1:151787915 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.934-6C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002710263] |
Chr1:151813626 [GRCh38]
Chr1:151786102 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1174+15G>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002701167] |
Chr1:151813224 [GRCh38]
Chr1:151785700 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.811+12G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002711625] |
Chr1:151814901 [GRCh38]
Chr1:151787377 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.675C>A (p.Thr225=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002575191] |
Chr1:151815049 [GRCh38]
Chr1:151787525 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.718G>A (p.Gly240Arg) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003084873] |
Chr1:151815006 [GRCh38]
Chr1:151787482 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1032C>T (p.Leu344=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003058605] |
Chr1:151813522 [GRCh38]
Chr1:151785998 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1045C>A (p.Gln349Lys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002649809] |
Chr1:151813509 [GRCh38]
Chr1:151785985 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1227C>T (p.Ala409=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002631868] |
Chr1:151813005 [GRCh38]
Chr1:151785481 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1120C>T (p.Arg374Cys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003092104] |
Chr1:151813293 [GRCh38]
Chr1:151785769 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.662G>A (p.Gly221Asp) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003065168] |
Chr1:151815062 [GRCh38]
Chr1:151787538 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.30A>T (p.Arg10=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002898638] |
Chr1:151831735 [GRCh38]
Chr1:151804211 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1396-20C>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002811438] |
Chr1:151807653 [GRCh38]
Chr1:151780129 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1225G>A (p.Ala409Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003027527] |
Chr1:151813007 [GRCh38]
Chr1:151785483 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.814C>T (p.His272Tyr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003048523] |
Chr1:151814693 [GRCh38]
Chr1:151787169 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.787C>A (p.Pro263Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002960202] |
Chr1:151814937 [GRCh38]
Chr1:151787413 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.299-16C>T |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002792134] |
Chr1:151815441 [GRCh38]
Chr1:151787917 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.494A>G (p.Asp165Gly) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002988801] |
Chr1:151815230 [GRCh38]
Chr1:151787706 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.40+7G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002720566] |
Chr1:151831718 [GRCh38]
Chr1:151804194 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.855C>T (p.Cys285=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003065656]|RORC-related disorder [RCV003926676] |
Chr1:151814652 [GRCh38]
Chr1:151787128 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.903C>G (p.Ser301=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002635385] |
Chr1:151814604 [GRCh38]
Chr1:151787080 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.596C>T (p.Ser199Leu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002943102] |
Chr1:151815128 [GRCh38]
Chr1:151787604 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.370C>G (p.Gln124Glu) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003072450] |
Chr1:151815354 [GRCh38]
Chr1:151787830 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.769C>T (p.Arg257Cys) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003093685] |
Chr1:151814955 [GRCh38]
Chr1:151787431 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.1489G>A (p.Ala497Thr) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002634720] |
Chr1:151807540 [GRCh38]
Chr1:151780016 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.887G>A (p.Arg296His) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002634792] |
Chr1:151814620 [GRCh38]
Chr1:151787096 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.156+20A>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003092468] |
Chr1:151817175 [GRCh38]
Chr1:151789651 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.653A>T (p.Tyr218Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003175775] |
Chr1:151815071 [GRCh38]
Chr1:151787547 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.776C>T (p.Thr259Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003211480] |
Chr1:151814948 [GRCh38]
Chr1:151787424 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.40+752C>A |
single nucleotide variant |
not specified [RCV003397054] |
Chr1:151830973 [GRCh38]
Chr1:151803449 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003329522] |
Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1 |
pathogenic |
| NM_005060.4(RORC):c.1165C>T (p.Arg389Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003337837] |
Chr1:151813248 [GRCh38]
Chr1:151785724 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_005060.4(RORC):c.156+73_156+74insCACACACT |
microsatellite |
not specified [RCV003489163] |
Chr1:151817121..151817122 [GRCh38]
Chr1:151789597..151789598 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1396-68G>A |
single nucleotide variant |
not specified [RCV003397031] |
Chr1:151807701 [GRCh38]
Chr1:151780177 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+62delinsACACACACA |
indel |
not specified [RCV003489117] |
Chr1:151817133 [GRCh38]
Chr1:151789609 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.40+437C>G |
single nucleotide variant |
not specified [RCV003391190] |
Chr1:151831288 [GRCh38]
Chr1:151803764 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1395+113T>G |
single nucleotide variant |
not specified [RCV003397069] |
Chr1:151811212 [GRCh38]
Chr1:151783688 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.40+537G>A |
single nucleotide variant |
not specified [RCV003397058] |
Chr1:151831188 [GRCh38]
Chr1:151803664 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.70+3610C>T |
single nucleotide variant |
not specified [RCV003391237] |
Chr1:151825819 [GRCh38]
Chr1:151798295 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.292C>T (p.Arg98Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592455] |
Chr1:151816670 [GRCh38]
Chr1:151789146 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_005060.4(RORC):c.165C>T (p.Phe55=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592477] |
Chr1:151816797 [GRCh38]
Chr1:151789273 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.606T>C (p.Leu202=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003591289] |
Chr1:151815118 [GRCh38]
Chr1:151787594 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.298+14G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592506] |
Chr1:151816650 [GRCh38]
Chr1:151789126 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.156+61_156+62insCACACACA |
microsatellite |
not specified [RCV003488833] |
Chr1:151817133..151817134 [GRCh38]
Chr1:151789609..151789610 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+62G>A |
single nucleotide variant |
not specified [RCV003488985] |
Chr1:151817133 [GRCh38]
Chr1:151789609 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+79_156+80insCACACACG |
microsatellite |
not specified [RCV003489194] |
Chr1:151817115..151817116 [GRCh38]
Chr1:151789591..151789592 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+63CA[14] |
microsatellite |
not specified [RCV003489193] |
Chr1:151817112..151817113 [GRCh38]
Chr1:151789588..151789589 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1209C>T (p.Phe403=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003591439] |
Chr1:151813023 [GRCh38]
Chr1:151785499 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.156+71_156+72insCACACACT |
microsatellite |
not specified [RCV003489244] |
Chr1:151817123..151817124 [GRCh38]
Chr1:151789599..151789600 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+81_156+82insCACACACT |
microsatellite |
not specified [RCV003489243] |
Chr1:151817113..151817114 [GRCh38]
Chr1:151789589..151789590 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.156+60G>A |
single nucleotide variant |
not specified [RCV003488991] |
Chr1:151817135 [GRCh38]
Chr1:151789611 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_005060.4(RORC):c.1151G>C (p.Gly384Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592950] |
Chr1:151813262 [GRCh38]
Chr1:151785738 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.132G>T (p.Gly44=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755142] |
Chr1:151817219 [GRCh38]
Chr1:151789695 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.157-20C>G |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756329] |
Chr1:151816825 [GRCh38]
Chr1:151789301 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.865C>T (p.Leu289=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755502] |
Chr1:151814642 [GRCh38]
Chr1:151787118 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.663C>T (p.Gly221=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755623] |
Chr1:151815061 [GRCh38]
Chr1:151787537 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.442A>G (p.Thr148Ala) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756142] |
Chr1:151815282 [GRCh38]
Chr1:151787758 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.921C>T (p.Gly307=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755325] |
Chr1:151814586 [GRCh38]
Chr1:151787062 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.918T>C (p.Thr306=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755262] |
Chr1:151814589 [GRCh38]
Chr1:151787065 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.657C>T (p.Ser219=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755562] |
Chr1:151815067 [GRCh38]
Chr1:151787543 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.504G>A (p.Glu168=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755354] |
Chr1:151815220 [GRCh38]
Chr1:151787696 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1479G>A (p.Val493=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755832] |
Chr1:151807550 [GRCh38]
Chr1:151780026 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.933+10G>A |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755882] |
Chr1:151814564 [GRCh38]
Chr1:151787040 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.682C>T (p.Arg228Ter) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755902] |
Chr1:151815042 [GRCh38]
Chr1:151787518 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_005060.4(RORC):c.1017A>G (p.Ser339=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756333] |
Chr1:151813537 [GRCh38]
Chr1:151786013 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.687T>C (p.Cys229=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756560] |
Chr1:151815037 [GRCh38]
Chr1:151787513 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.183T>C (p.Cys61=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756476] |
Chr1:151816779 [GRCh38]
Chr1:151789255 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1242G>A (p.Glu414=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003593128] |
Chr1:151812990 [GRCh38]
Chr1:151785466 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.489G>T (p.Ser163=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003854918] |
Chr1:151815235 [GRCh38]
Chr1:151787711 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.1323G>A (p.Gln441=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003844829] |
Chr1:151811397 [GRCh38]
Chr1:151783873 [GRCh37]
Chr1:1q21.3 |
likely benign |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_005060.4(RORC):c.180C>T (p.Arg60=) |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003871463] |
Chr1:151816782 [GRCh38]
Chr1:151789258 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_005060.4(RORC):c.70+11G>C |
single nucleotide variant |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003868355] |
Chr1:151829418 [GRCh38]
Chr1:151801894 [GRCh37]
Chr1:1q21.3 |
likely benign |
| GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 |
copy number gain |
not specified [RCV003987261] |
Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_005060.4(RORC):c.677C>A (p.Pro226His) |
single nucleotide variant |
Inborn genetic diseases [RCV004665625] |
Chr1:151815047 [GRCh38]
Chr1:151787523 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_005060.4(RORC):c.821_933+84del |
deletion |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003336044] |
Chr1:151814490..151814686 [GRCh38]
Chr1:151786966..151787162 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
