Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000001.10:g.(?_1146915)_(1168668_?)dup | -1 | B3GALT6;SDF4;TNFRSF4 | Uncertain significance | -1 | RCV000813334|RCV001319585; | N | MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640, Orphanet:93359; MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349, Orphanet:536467, Orphanet:75496|MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146915 | 1168668 | | | | - | | |
NC_000001.10:g.(?_861322)_(3768971_?)del | -1 | subset of 76 genes: GNB1 | Pathogenic | -1 | RCV001919158|RCV001919159|RCV001919157|RCV001923368|RCV001923367|RCV001943250; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126, Orphanet:319563|MedGen:C1864399|MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781, Orphanet:475|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS27164 | 1 | 861322 | 3768971 | | | -1 | - | | |
NC_000001.10:g.(?_1146935)_(1168648_?)dup | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003113254; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146935 | 1168648 | | | | - | | |
NM_003327.4(TNFRSF4):c.822G>A (p.Leu274=) | 7293 | TNFRSF4 | Uncertain significance | 1403848680 | RCV000794483; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146947 | 1146947 | | | 1:g.1146947C>T | - | | |
NM_003327.4(TNFRSF4):c.816C>T (p.Ser272=) | 7293 | TNFRSF4 | Likely benign | 775834591 | RCV002157965; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146953 | 1146953 | | | 1146953 | - | | |
NM_003327.4(TNFRSF4):c.812A>G (p.His271Arg) | 7293 | TNFRSF4 | Uncertain significance | 1336408361 | RCV001947240; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146957 | 1146957 | | | 1146957 | - | | |
NM_003327.4(TNFRSF4):c.808G>A (p.Ala270Thr) | 7293 | TNFRSF4 | Uncertain significance | 375419469 | RCV001987664; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146961 | 1146961 | | | 1146961 | - | | |
NM_003327.4(TNFRSF4):c.805G>A (p.Asp269Asn) | 7293 | TNFRSF4 | Uncertain significance | 769107435 | RCV001232398; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146964 | 1146964 | | | 1:g.1146964C>T | - | | |
NM_003327.4(TNFRSF4):c.804C>T (p.Ala268=) | 7293 | TNFRSF4 | Benign | 35160621 | RCV000537491; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146965 | 1146965 | | | 1:g.1146965G>A | ClinGen:CA512324 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.801G>C (p.Gln267His) | 7293 | TNFRSF4 | Uncertain significance | 762071902 | RCV001241805; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146968 | 1146968 | | | 1:g.1146968C>G | - | | |
NM_003327.4(TNFRSF4):c.798G>A (p.Glu266=) | 7293 | TNFRSF4 | Likely benign | 1557505168 | RCV001498298; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146971 | 1146971 | | | 1146971 | - | | |
NM_003327.4(TNFRSF4):c.796G>A (p.Glu266Lys) | 7293 | TNFRSF4 | Uncertain significance | 2100948983 | RCV001974381; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146973 | 1146973 | | | 1146973 | - | | |
NM_003327.4(TNFRSF4):c.779G>C (p.Arg260Pro) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003033380; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1146990 | 1146990 | | | NC_000001.10:g.1146990C>G | - | | |
NM_003327.4(TNFRSF4):c.767G>C (p.Gly256Ala) | 7293 | TNFRSF4 | Uncertain significance | 1649106016 | RCV001342158; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147002 | 1147002 | | | 1147002 | - | | |
NM_003327.4(TNFRSF4):c.764-1G>A | 7293 | TNFRSF4 | Uncertain significance | 773552376 | RCV001913149; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147006 | 1147006 | | | 1147006 | - | | |
NM_003327.4(TNFRSF4):c.764-2del | 7293 | TNFRSF4 | Uncertain significance | 1253678132 | RCV000793166; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147007 | 1147007 | | | 1:g.1147007_1147007del | - | | |
NM_003327.4(TNFRSF4):c.764-8C>T | 7293 | TNFRSF4 | Likely benign | 758336413 | RCV002172637; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147013 | 1147013 | | | 1147013 | - | | |
NM_003327.4(TNFRSF4):c.764-16C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002740358; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147021 | 1147021 | | | NC_000001.10:g.1147021G>A | - | | |
NM_003327.4(TNFRSF4):c.764-19C>T | 7293 | TNFRSF4 | Benign/Likely benign | 34945898 | RCV001519359|RCV003405698; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147024 | 1147024 | | | 1147024 | - | | |
NM_003327.4(TNFRSF4):c.763+6T>A | 7293 | TNFRSF4 | Uncertain significance | 375875899 | RCV001246071; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147078 | 1147078 | | | 1:g.1147078A>T | - | | |
NM_003327.4(TNFRSF4):c.756G>A (p.Lys252=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002948224; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147091 | 1147091 | | | | - | | |
NM_003327.4(TNFRSF4):c.751C>T (p.His251Tyr) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002727228; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147096 | 1147096 | | | NC_000001.10:g.1147096G>A | - | | |
NM_003327.4(TNFRSF4):c.745G>A (p.Asp249Asn) | 7293 | TNFRSF4 | Uncertain significance | 754604681 | RCV001058976; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147102 | 1147102 | | | 1:g.1147102C>T | - | | |
NM_003327.4(TNFRSF4):c.738G>T (p.Leu246=) | 7293 | TNFRSF4 | Likely benign | 2100949567 | RCV001490215; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147109 | 1147109 | | | 1147109 | - | | |
NM_003327.4(TNFRSF4):c.722G>A (p.Arg241Gln) | 7293 | TNFRSF4 | Uncertain significance | 776902723 | RCV001374090; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147125 | 1147125 | | | 1147125 | - | | |
NM_003327.4(TNFRSF4):c.721C>T (p.Arg241Trp) | 7293 | TNFRSF4 | Uncertain significance | 1006323015 | RCV000701380; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147126 | 1147126 | | | NC_000001.10:g.1147126G>A | - | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.702G>A (p.Leu234=) | 7293 | TNFRSF4 | Likely benign | 2100949704 | RCV001440153; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147145 | 1147145 | | | 1147145 | - | | |
NM_003327.4(TNFRSF4):c.698T>C (p.Ile233Thr) | 7293 | TNFRSF4 | Uncertain significance | 1649125548 | RCV001235752; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147149 | 1147149 | | | 1:g.1147149A>G | - | | |
NM_003327.4(TNFRSF4):c.692del (p.Leu231fs) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002761654; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147155 | 1147155 | | | NC_000001.10:g.1147155del | - | | |
NM_003327.4(TNFRSF4):c.687C>A (p.Gly229=) | 7293 | TNFRSF4 | Likely benign | 879206506 | RCV002095370; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147160 | 1147160 | | | 1147160 | - | | |
NM_003327.4(TNFRSF4):c.682C>T (p.Leu228=) | 7293 | TNFRSF4 | Likely benign | 372578101 | RCV002195194; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147165 | 1147165 | | | 1147165 | - | | |
NM_003327.4(TNFRSF4):c.679C>T (p.Leu227=) | 7293 | TNFRSF4 | Likely benign | 1234350697 | RCV001451150; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147168 | 1147168 | | | 1:g.1147168G>A | - | | |
NM_003327.4(TNFRSF4):c.678del (p.Leu227fs) | 7293 | TNFRSF4 | Uncertain significance | 2100949816 | RCV001978674; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147169 | 1147169 | | | 1147168 | - | | |
NM_003327.4(TNFRSF4):c.659GCCTGG[3] (p.Leu223_Val224insGlyLeu) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002974852; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147176 | 1147177 | | | NC_000001.10:g.1147182CCCAGG[3] | - | | |
NM_003327.4(TNFRSF4):c.669G>A (p.Leu223=) | 7293 | TNFRSF4 | Likely benign | 1649129048 | RCV001909049; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147178 | 1147178 | | | 1147178 | - | | |
NM_003327.4(TNFRSF4):c.668T>C (p.Leu223Pro) | 7293 | TNFRSF4 | Uncertain significance | 761837798 | RCV001986556; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147179 | 1147179 | | | 1147179 | - | | |
NM_003327.4(TNFRSF4):c.667C>G (p.Leu223Val) | 7293 | TNFRSF4 | Uncertain significance | 767154582 | RCV001997399; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147180 | 1147180 | | | 1147180 | - | | |
NM_003327.4(TNFRSF4):c.646GCC[1] (p.Ala217del) | 7293 | TNFRSF4 | Uncertain significance | 780877916 | RCV001915144; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147196 | 1147198 | | | 1147195 | - | | |
NM_003327.4(TNFRSF4):c.649G>A (p.Ala217Thr) | 7293 | TNFRSF4 | Likely benign | 375611972 | RCV000899635; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147198 | 1147198 | | | 1:g.1147198C>T | - | | |
NM_003327.4(TNFRSF4):c.641_642del (p.Ala214fs) | 7293 | TNFRSF4 | Uncertain significance | 2100949964 | RCV001901215; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147205 | 1147206 | | | 1147204 | - | | |
NM_003327.4(TNFRSF4):c.641C>T (p.Ala214Val) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003092039; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147206 | 1147206 | | | NC_000001.10:g.1147206G>A | - | | |
NM_003327.4(TNFRSF4):c.638G>C (p.Arg213Pro) | 7293 | TNFRSF4 | Uncertain significance | 1402575779 | RCV001370802; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147209 | 1147209 | | | 1147209 | - | | |
NM_003327.4(TNFRSF4):c.635-3C>T | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002700719; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147215 | 1147215 | | | NC_000001.10:g.1147215G>A | - | | |
NM_003327.4(TNFRSF4):c.635-13C>A | 7293 | TNFRSF4 | Likely benign | 892501040 | RCV002192697; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147225 | 1147225 | | | 1147225 | - | | |
NM_003327.4(TNFRSF4):c.635-44_635-15del | 7293 | TNFRSF4 | Likely benign | 2100950028 | RCV002208636; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147227 | 1147256 | | | 1147226 | - | | |
NM_003327.4(TNFRSF4):c.634+25C>T | 7293 | TNFRSF4 | Benign | 2298212 | RCV001518517|RCV001724331; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147297 | 1147297 | | | 1147297 | - | | |
NM_003327.4(TNFRSF4):c.634+18_634+19delinsCC | 7293 | TNFRSF4 | Likely benign | 2100950235 | RCV002190576; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147303 | 1147304 | | | 1147303 | - | | |
NM_003327.4(TNFRSF4):c.634+16C>T | 7293 | TNFRSF4 | Likely benign | 764775188 | RCV002114618; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147306 | 1147306 | | | 1147306 | - | | |
NM_003327.4(TNFRSF4):c.634+12T>A | 7293 | TNFRSF4 | Likely benign | -1 | RCV003051641; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147310 | 1147310 | | | NC_000001.10:g.1147310A>T | - | | |
NM_003327.4(TNFRSF4):c.634+11C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002615827; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147311 | 1147311 | | | NC_000001.10:g.1147311G>A | - | | |
NM_003327.4(TNFRSF4):c.634+9G>A | 7293 | TNFRSF4 | Likely benign | 1164078859 | RCV001397983; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147313 | 1147313 | | | 1147313 | - | | |
NM_003327.4(TNFRSF4):c.634+8C>T | 7293 | TNFRSF4 | Uncertain significance | 199647845 | RCV001211423; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147314 | 1147314 | | | 1:g.1147314G>A | - | | |
NM_003327.4(TNFRSF4):c.631G>A (p.Gly211Arg) | 7293 | TNFRSF4 | Uncertain significance | 757565777 | RCV001222055|RCV003405408; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147325 | 1147325 | | | 1:g.1147325C>T | - | | |
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met) | 7293 | TNFRSF4 | Likely benign | 201461846 | RCV000556703|RCV001702679; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147337 | 1147337 | | | 1:g.1147337C>T | ClinGen:CA512405 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.618C>T (p.Pro206=) | 7293 | TNFRSF4 | Benign | 569162785 | RCV000905382; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147338 | 1147338 | | | 1:g.1147338G>A | - | | |
NM_003327.4(TNFRSF4):c.614G>A (p.Arg205Gln) | 7293 | TNFRSF4 | Uncertain significance | 749385408 | RCV000819790; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147342 | 1147342 | | | 1:g.1147342C>T | - | | |
NM_003327.4(TNFRSF4):c.614G>C (p.Arg205Pro) | 7293 | TNFRSF4 | Uncertain significance | 749385408 | RCV001059919; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147342 | 1147342 | | | 1:g.1147342C>G | - | | |
NM_003327.4(TNFRSF4):c.613C>T (p.Arg205Trp) | 7293 | TNFRSF4 | Uncertain significance | 773180013 | RCV001222743; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147343 | 1147343 | | | 1:g.1147343G>A | - | | |
NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser) | 7293 | TNFRSF4 | Uncertain significance | 776572462 | RCV000813719; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147352 | 1147352 | | | 1:g.1147352G>A | - | | |
NM_003327.4(TNFRSF4):c.580G>T (p.Ala194Ser) | 7293 | TNFRSF4 | Uncertain significance | 374382066 | RCV001887289|RCV002555237; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1147376 | 1147376 | | | 1147376 | - | | |
NM_003327.4(TNFRSF4):c.553A>G (p.Arg185Gly) | 7293 | TNFRSF4 | Uncertain significance | 148695736 | RCV001906510; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147403 | 1147403 | | | 1147403 | - | | |
NM_003327.4(TNFRSF4):c.549G>A (p.Pro183=) | 7293 | TNFRSF4 | Likely benign | 757761946 | RCV001394161; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147407 | 1147407 | | | 1147407 | - | | |
NM_003327.4(TNFRSF4):c.548C>G (p.Pro183Arg) | 7293 | TNFRSF4 | Uncertain significance | 191704944 | RCV000809370; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147408 | 1147408 | | | 1:g.1147408G>C | - | | |
NM_003327.4(TNFRSF4):c.548del (p.Pro183fs) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003042436; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147408 | 1147408 | | | NC_000001.10:g.1147413del | - | | |
NM_003327.4(TNFRSF4):c.546C>T (p.Pro182=) | 7293 | TNFRSF4 | Likely benign | 2100950598 | RCV002099725; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147410 | 1147410 | | | 1147410 | - | | |
NM_003327.4(TNFRSF4):c.543C>T (p.Gly181=) | 7293 | TNFRSF4 | Likely benign | 756542209 | RCV000651958; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147413 | 1147413 | | | 1:g.1147413G>A | ClinGen:CA512424 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.543C>A (p.Gly181=) | 7293 | TNFRSF4 | Likely benign | 756542209 | RCV000940151; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147413 | 1147413 | | | 1:g.1147413G>T | - | | |
NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=) | 7293 | TNFRSF4 | Benign | 17568 | RCV000455786|RCV001516769|RCV001613291; | N | MedGen:CN169374|MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147422 | 1147422 | | | 1:g.1147422C>T | ClinGen:CA512425 | CN169374 not specified; | |
NM_003327.4(TNFRSF4):c.515dup (p.Ala173fs) | 7293 | TNFRSF4 | Uncertain significance | 769217131 | RCV001984629; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147440 | 1147441 | | | 1147440 | - | | |
NM_003327.4(TNFRSF4):c.510C>T (p.Asp170=) | 7293 | TNFRSF4 | Likely benign | 368736683 | RCV001400619; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147446 | 1147446 | | | 1147446 | - | | |
NM_003327.4(TNFRSF4):c.509del (p.Asp170fs) | 7293 | TNFRSF4 | Uncertain significance | 774777119 | RCV001314038; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147447 | 1147447 | | | 1147446 | - | | |
NM_003327.4(TNFRSF4):c.504C>G (p.Asp168Glu) | 7293 | TNFRSF4 | Uncertain significance | 201228114 | RCV001890731; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147452 | 1147452 | | | 1147452 | - | | |
NM_003327.4(TNFRSF4):c.495C>A (p.Ile165=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV003038193; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147461 | 1147461 | | | | - | | |
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) | 7293 | TNFRSF4 | Conflicting interpretations of pathogenicity | 150407012 | RCV000694602|RCV003411616; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:C3661900 | 1 | 1147462 | 1147462 | | | 1:g.1147462A>G | - | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.493A>T (p.Ile165Phe) | 7293 | TNFRSF4 | Uncertain significance | 773861319 | RCV001972262; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147463 | 1147463 | | | 1147463 | - | | |
NM_003327.4(TNFRSF4):c.491C>A (p.Ala164Glu) | 7293 | TNFRSF4 | Uncertain significance | 2100950839 | RCV002022406; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147465 | 1147465 | | | 1147465 | - | | |
NM_003327.4(TNFRSF4):c.490G>A (p.Ala164Thr) | 7293 | TNFRSF4 | Uncertain significance | 377530517 | RCV001369578; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147466 | 1147466 | | | 1147466 | - | | |
NM_003327.4(TNFRSF4):c.489C>T (p.Asp163=) | 7293 | TNFRSF4 | Likely benign | 768010168 | RCV001494340; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147467 | 1147467 | | | 1:g.1147467G>A | - | | |
NM_003327.4(TNFRSF4):c.486G>A (p.Ser162=) | 7293 | TNFRSF4 | Likely benign | 199860102 | RCV001431943; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147470 | 1147470 | | | 1:g.1147470C>T | - | | |
NM_003327.4(TNFRSF4):c.485C>T (p.Ser162Leu) | 7293 | TNFRSF4 | Uncertain significance | 372412045 | RCV001338788; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147471 | 1147471 | | | 1147471 | - | | |
NM_003327.4(TNFRSF4):c.485C>G (p.Ser162Trp) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002572139; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147471 | 1147471 | | | NC_000001.10:g.1147471G>C | - | | |
NM_003327.4(TNFRSF4):c.476G>A (p.Ser159Asn) | 7293 | TNFRSF4 | Uncertain significance | 2100950885 | RCV001908406; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147480 | 1147480 | | | 1147480 | - | | |
NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) | 7293 | TNFRSF4 | Uncertain significance | 755162827 | RCV000811263|RCV001535448; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MedGen:CN517202 | 1 | 1147484 | 1147484 | | | 1:g.1147484C>A | - | | |
NM_003327.4(TNFRSF4):c.471G>A (p.Pro157=) | 7293 | TNFRSF4 | Benign | 61761334 | RCV000913536; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147485 | 1147485 | | | 1:g.1147485C>T | - | | |
NM_003327.4(TNFRSF4):c.470C>T (p.Pro157Leu) | 7293 | TNFRSF4 | Likely benign | 150220682 | RCV000967639; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147486 | 1147486 | | | 1:g.1147486G>A | - | | |
NM_003327.4(TNFRSF4):c.461C>A (p.Thr154Asn) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002611028; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147495 | 1147495 | | | NC_000001.10:g.1147495G>T | - | | |
NM_003327.4(TNFRSF4):c.448G>T (p.Ala150Ser) | 7293 | TNFRSF4 | Uncertain significance | 1285284406 | RCV000705942; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147508 | 1147508 | | | NC_000001.10:g.1147508C>A | - | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.447G>A (p.Leu149=) | 7293 | TNFRSF4 | Benign | 572939257 | RCV000902911; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147509 | 1147509 | | | 1:g.1147509C>T | - | | |
NM_003327.4(TNFRSF4):c.438-17C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002801139; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147535 | 1147535 | | | NC_000001.10:g.1147535G>A | - | | |
NM_003327.4(TNFRSF4):c.438-20C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV003076706; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147538 | 1147538 | | | NC_000001.10:g.1147538G>A | - | | |
NM_003327.4(TNFRSF4):c.438-44C>T | 7293 | TNFRSF4 | Benign | 376947618 | RCV001838901; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1147562 | 1147562 | | | 1147562 | - | | |
NM_003327.4(TNFRSF4):c.437+14C>A | 7293 | TNFRSF4 | Likely benign | 778519697 | RCV002218633; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148004 | 1148004 | | | 1148004 | - | | |
NM_003327.4(TNFRSF4):c.437+8G>A | 7293 | TNFRSF4 | Likely benign | 566351921 | RCV001459072; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148010 | 1148010 | | | 1:g.1148010C>T | - | | |
NM_003327.4(TNFRSF4):c.437+5G>A | 7293 | TNFRSF4 | Uncertain significance | 1557506739 | RCV001295684; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148013 | 1148013 | | | 1148013 | - | | |
NM_003327.4(TNFRSF4):c.426G>A (p.Lys142=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV003040316; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148029 | 1148029 | | | | - | | |
NM_003327.4(TNFRSF4):c.423C>T (p.Cys141=) | 7293 | TNFRSF4 | Likely benign | 771531096 | RCV001035985; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148032 | 1148032 | | | 1:g.1148032G>A | - | | |
NM_003327.4(TNFRSF4):c.419C>T (p.Ala140Val) | 7293 | TNFRSF4 | Uncertain significance | 2100952849 | RCV001999286; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148036 | 1148036 | | | 1148036 | - | | |
NM_003327.4(TNFRSF4):c.413A>G (p.Asn138Ser) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002851703; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148042 | 1148042 | | | NC_000001.10:g.1148042T>C | - | | |
NM_003327.4(TNFRSF4):c.408C>T (p.Gly136=) | 7293 | TNFRSF4 | Uncertain significance | 367869917 | RCV000815467; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148047 | 1148047 | | | 1:g.1148047G>A | - | | |
NM_003327.4(TNFRSF4):c.402C>T (p.Ser134=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002853483; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148053 | 1148053 | | | | - | | |
NM_003327.4(TNFRSF4):c.391G>C (p.Gly131Arg) | 7293 | TNFRSF4 | Uncertain significance | 771330950 | RCV001956612; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148064 | 1148064 | | | 1148064 | - | | |
NM_003327.4(TNFRSF4):c.387T>C (p.Pro129=) | 7293 | TNFRSF4 | Likely benign | 2100952972 | RCV001500330; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148068 | 1148068 | | | 1148068 | - | | |
NM_003327.4(TNFRSF4):c.385C>T (p.Pro129Ser) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003060604; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148070 | 1148070 | | | NC_000001.10:g.1148070G>A | - | | |
NM_003327.4(TNFRSF4):c.378C>A (p.Ala126=) | 7293 | TNFRSF4 | Likely benign | 538592266 | RCV002201521; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148077 | 1148077 | | | 1148077 | - | | |
NM_003327.4(TNFRSF4):c.371A>G (p.Asp124Gly) | 7293 | TNFRSF4 | Uncertain significance | 1448767765 | RCV001300620; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148084 | 1148084 | | | 1148084 | - | | |
NM_003327.4(TNFRSF4):c.371-3C>T | 7293 | TNFRSF4 | Uncertain significance | 2100953066 | RCV002040395; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148087 | 1148087 | | | 1148087 | - | | |
NM_003327.4(TNFRSF4):c.371-5T>G | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002801004; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148089 | 1148089 | | | NC_000001.10:g.1148089A>C | - | | |
NM_003327.4(TNFRSF4):c.371-13_371-10del | 7293 | TNFRSF4 | Uncertain significance | 2100953077 | RCV001910457; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148094 | 1148097 | | | 1148093 | - | | |
NM_003327.4(TNFRSF4):c.371-16C>T | 7293 | TNFRSF4 | Benign/Likely benign | 34108055 | RCV001512290; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148100 | 1148100 | | | 1148100 | - | | |
NM_003327.4(TNFRSF4):c.371-16C>G | 7293 | TNFRSF4 | Benign | 34108055 | RCV001512227; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148100 | 1148100 | | | 1148100 | - | | |
NM_003327.4(TNFRSF4):c.370+18G>A | 7293 | TNFRSF4 | Likely benign | 531691331 | RCV002126690; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148354 | 1148354 | | | 1148354 | - | | |
NM_003327.4(TNFRSF4):c.370+18G>C | 7293 | TNFRSF4 | Benign | 531691331 | RCV002189399; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148354 | 1148354 | | | 1148354 | - | | |
NM_003327.4(TNFRSF4):c.370+17C>T | 7293 | TNFRSF4 | Benign | 369074008 | RCV002181575; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148355 | 1148355 | | | 1148355 | - | | |
NM_003327.4(TNFRSF4):c.370+14C>T | 7293 | TNFRSF4 | Benign | 35033502 | RCV001523364; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148358 | 1148358 | | | 1148358 | - | | |
NM_003327.4(TNFRSF4):c.370+11T>C | 7293 | TNFRSF4 | Likely benign | 1649243786 | RCV001411924; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148361 | 1148361 | | | 1148361 | - | | |
NM_003327.4(TNFRSF4):c.370+8C>A | 7293 | TNFRSF4 | Likely benign | 376518717 | RCV001456911; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148364 | 1148364 | | | 1:g.1148364G>T | - | | |
NM_003327.4(TNFRSF4):c.370+8C>T | 7293 | TNFRSF4 | Likely benign | 376518717 | RCV002089613; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148364 | 1148364 | | | 1148364 | - | | |
NM_003327.4(TNFRSF4):c.370+3G>A | 7293 | TNFRSF4 | Uncertain significance | 774670634 | RCV001915768; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148369 | 1148369 | | | 1148369 | - | | |
NM_003327.4(TNFRSF4):c.370+2T>C | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003026839; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148370 | 1148370 | | | NC_000001.10:g.1148370A>G | - | | |
NM_003327.4(TNFRSF4):c.370G>C (p.Asp124His) | 7293 | TNFRSF4 | Uncertain significance | 761778989 | RCV001903039; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148372 | 1148372 | | | 1148372 | - | | |
NM_003327.4(TNFRSF4):c.370G>T (p.Asp124Tyr) | 7293 | TNFRSF4 | Uncertain significance | 761778989 | RCV001977698; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148372 | 1148372 | | | 1148372 | - | | |
NM_003327.4(TNFRSF4):c.360G>A (p.Lys120=) | 7293 | TNFRSF4 | Likely benign | 1260329169 | RCV001444461; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148382 | 1148382 | | | 1:g.1148382C>T | - | | |
NM_003327.4(TNFRSF4):c.351C>T (p.Asp117=) | 7293 | TNFRSF4 | Likely benign | 146733335 | RCV002112010; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148391 | 1148391 | | | 1148391 | - | | |
NM_003327.4(TNFRSF4):c.333G>A (p.Ala111=) | 7293 | TNFRSF4 | Likely benign | 142751158 | RCV001207773; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148409 | 1148409 | | | 1:g.1148409C>T | - | | |
NM_003327.4(TNFRSF4):c.332C>T (p.Ala111Val) | 7293 | TNFRSF4 | Uncertain significance | 777266991 | RCV001316210; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148410 | 1148410 | | | 1148410 | - | | |
NM_003327.4(TNFRSF4):c.332C>A (p.Ala111Glu) | 7293 | TNFRSF4 | Uncertain significance | 777266991 | RCV001359682; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148410 | 1148410 | | | 1148410 | - | | |
NM_003327.4(TNFRSF4):c.329G>A (p.Arg110Gln) | 7293 | TNFRSF4 | Uncertain significance | 371978650 | RCV002004886; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148413 | 1148413 | | | 1148413 | - | | |
NM_003327.4(TNFRSF4):c.328C>T (p.Arg110Trp) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003084428|RCV003090039; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1148414 | 1148414 | | | NC_000001.10:g.1148414G>A | - | | |
NM_003327.4(TNFRSF4):c.325T>G (p.Cys109Gly) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002968084; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148417 | 1148417 | | | NC_000001.10:g.1148417A>C | - | | |
NM_003327.4(TNFRSF4):c.323G>A (p.Arg108His) | 7293 | TNFRSF4 | Uncertain significance | 1402392323 | RCV001246435; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148419 | 1148419 | | | 1:g.1148419C>T | - | | |
NM_003327.4(TNFRSF4):c.322C>T (p.Arg108Cys) | 7293 | TNFRSF4 | Uncertain significance | 527845865 | RCV001873887|RCV002545765; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1148420 | 1148420 | | | 1148420 | - | | |
NM_003327.4(TNFRSF4):c.314_315del (p.Thr105fs) | 7293 | TNFRSF4 | Uncertain significance | 1388272030 | RCV002020446; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148427 | 1148428 | | | 1148426 | - | | |
NM_003327.4(TNFRSF4):c.308A>G (p.Gln103Arg) | 7293 | TNFRSF4 | Uncertain significance | 769195529 | RCV001893505; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148434 | 1148434 | | | 1148434 | - | | |
NM_003327.4(TNFRSF4):c.300G>C (p.Thr100=) | 7293 | TNFRSF4 | Likely benign | 184488968 | RCV001464091; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148442 | 1148442 | | | 1148442 | - | | |
NM_003327.4(TNFRSF4):c.299C>T (p.Thr100Met) | 7293 | TNFRSF4 | Uncertain significance | 762131334 | RCV001902243; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148443 | 1148443 | | | 1148443 | - | | |
NM_003327.4(TNFRSF4):c.297C>T (p.Cys99=) | 7293 | TNFRSF4 | Benign | 34160451 | RCV000544166; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148445 | 1148445 | | | NC_000001.10:g.1148445G>A | ClinGen:CA512537 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.293T>C (p.Leu98Pro) | 7293 | TNFRSF4 | Likely benign | 150516264 | RCV000531541; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148449 | 1148449 | | | NC_000001.10:g.1148449A>G | ClinGen:CA512539 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.275G>C (p.Gly92Ala) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002802122; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148467 | 1148467 | | | NC_000001.10:g.1148467C>G | - | | |
NM_003327.4(TNFRSF4):c.273T>A (p.Ser91Arg) | 7293 | TNFRSF4 | Uncertain significance | 762686787 | RCV001993494|RCV002571218; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1148469 | 1148469 | | | 1148469 | - | | |
NM_003327.4(TNFRSF4):c.269-3C>T | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002912865; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148476 | 1148476 | | | NC_000001.10:g.1148476G>A | - | | |
NM_003327.4(TNFRSF4):c.269-8C>T | 7293 | TNFRSF4 | Likely benign | 2100954128 | RCV002139669; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148481 | 1148481 | | | 1148481 | - | | |
NM_003327.4(TNFRSF4):c.269-9C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002943407; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148482 | 1148482 | | | NC_000001.10:g.1148482G>A | - | | |
NM_003327.4(TNFRSF4):c.269-10C>T | 7293 | TNFRSF4 | Likely benign | 1370393670 | RCV002215191; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148483 | 1148483 | | | 1148483 | - | | |
NM_003327.4(TNFRSF4):c.269-18dup | 7293 | TNFRSF4 | Benign | 750655851 | RCV002124709; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148490 | 1148491 | | | 1148490 | - | | |
NM_003327.4(TNFRSF4):c.269-18C>T | 7293 | TNFRSF4 | Likely benign | 749945507 | RCV002083814; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148491 | 1148491 | | | 1148491 | - | | |
NM_003327.4(TNFRSF4):c.269-18C>G | 7293 | TNFRSF4 | Likely benign | 749945507 | RCV002097943; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148491 | 1148491 | | | 1148491 | - | | |
NM_003327.4(TNFRSF4):c.269-19C>G | 7293 | TNFRSF4 | Likely benign | 193151776 | RCV002090794; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1148492 | 1148492 | | | 1148492 | - | | |
NM_003327.4(TNFRSF4):c.268+17C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002594674; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149026 | 1149026 | | | NC_000001.10:g.1149026G>A | - | | |
NM_003327.4(TNFRSF4):c.268+6C>T | 7293 | TNFRSF4 | Uncertain significance | 1323320126 | RCV002003313; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149037 | 1149037 | | | 1149037 | - | | |
NM_003327.4(TNFRSF4):c.264C>A (p.Asn88Lys) | 7293 | TNFRSF4 | Uncertain significance | 975694220 | RCV001052159; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149047 | 1149047 | | | 1:g.1149047G>T | - | | |
NM_003327.4(TNFRSF4):c.255G>A (p.Thr85=) | 7293 | TNFRSF4 | Likely benign | 201768518 | RCV000651959; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149056 | 1149056 | | | 1:g.1149056C>T | ClinGen:CA512606 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.253A>G (p.Thr85Ala) | 7293 | TNFRSF4 | Uncertain significance | 367654407 | RCV001881418|RCV003375405; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1149058 | 1149058 | | | 1149058 | - | | |
NM_003327.4(TNFRSF4):c.240G>A (p.Pro80=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002651166; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149071 | 1149071 | | | | - | | |
NM_003327.4(TNFRSF4):c.239C>T (p.Pro80Leu) | 7293 | TNFRSF4 | Uncertain significance | 757655414 | RCV001299889; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149072 | 1149072 | | | 1149072 | - | | |
NM_003327.4(TNFRSF4):c.234C>T (p.Ser78=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002715887; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149077 | 1149077 | | | | - | | |
NM_003327.4(TNFRSF4):c.230G>A (p.Ser77Asn) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002617444; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149081 | 1149081 | | | NC_000001.10:g.1149081C>T | - | | |
NM_003327.4(TNFRSF4):c.223G>A (p.Val75Met) | 7293 | TNFRSF4 | Uncertain significance | 201012235 | RCV001212990; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149088 | 1149088 | | | 1:g.1149088C>T | - | | |
NM_003327.4(TNFRSF4):c.222C>T (p.Asp74=) | 7293 | TNFRSF4 | Benign | 541791598 | RCV002124639; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149089 | 1149089 | | | 1149089 | - | | |
NM_003327.4(TNFRSF4):c.220G>A (p.Asp74Asn) | 7293 | TNFRSF4 | Uncertain significance | 1557508466 | RCV002016618; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149091 | 1149091 | | | 1149091 | - | | |
NM_003327.4(TNFRSF4):c.219C>T (p.Asn73=) | 7293 | TNFRSF4 | Likely benign | 746769533 | RCV001486303; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149092 | 1149092 | | | 1149092 | - | | |
NM_003327.4(TNFRSF4):c.217A>G (p.Asn73Asp) | 7293 | TNFRSF4 | Uncertain significance | 776299984 | RCV001913397; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149094 | 1149094 | | | 1149094 | - | | |
NM_003327.4(TNFRSF4):c.207G>A (p.Pro69=) | 7293 | TNFRSF4 | Likely benign | 555467061 | RCV000651957; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149104 | 1149104 | | | 1:g.1149104C>T | ClinGen:CA512623 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.206C>T (p.Pro69Leu) | 7293 | TNFRSF4 | Uncertain significance | 199733493 | RCV001207182; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149105 | 1149105 | | | 1:g.1149105G>A | - | | |
NM_003327.4(TNFRSF4):c.202G>A (p.Gly68Arg) | 7293 | TNFRSF4 | Uncertain significance | 139254733 | RCV001038436; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149109 | 1149109 | | | 1:g.1149109C>T | - | | |
NM_003327.4(TNFRSF4):c.198G>T (p.Pro66=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002611138; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149113 | 1149113 | | | | - | | |
NM_003327.4(TNFRSF4):c.197C>T (p.Pro66Leu) | 7293 | TNFRSF4 | Uncertain significance | 370919067 | RCV000807184; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149114 | 1149114 | | | 1:g.1149114G>A | - | | |
NM_003327.4(TNFRSF4):c.194G>A (p.Arg65His) | 7293 | TNFRSF4 | Uncertain significance | 767897638 | RCV001060936; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149117 | 1149117 | | | 1:g.1149117C>T | - | | |
NM_003327.4(TNFRSF4):c.194G>T (p.Arg65Leu) | 7293 | TNFRSF4 | Uncertain significance | 767897638 | RCV001975539; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149117 | 1149117 | | | 1149117 | - | | |
NM_003327.4(TNFRSF4):c.193C>T (p.Arg65Cys) | 7293 | TNFRSF4 | Pathogenic | 587777075 | RCV000082860; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149118 | 1149118 | | | 1:g.1149118G>A | ClinGen:CA149686,UniProtKB:P43489#VAR_070942,OMIM:600315.0001 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.186G>C (p.Thr62=) | 7293 | TNFRSF4 | Likely benign | 376354151 | RCV001464879; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149125 | 1149125 | | | 1149125 | - | | |
NM_003327.4(TNFRSF4):c.186G>A (p.Thr62=) | 7293 | TNFRSF4 | Likely benign | 376354151 | RCV002119416; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149125 | 1149125 | | | 1149125 | - | | |
NM_003327.4(TNFRSF4):c.185C>T (p.Thr62Met) | 7293 | TNFRSF4 | Uncertain significance | 368516876 | RCV001945004; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149126 | 1149126 | | | 1149126 | - | | |
NM_003327.4(TNFRSF4):c.177C>T (p.Ser59=) | 7293 | TNFRSF4 | Likely benign | 144102157 | RCV000913794; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149134 | 1149134 | | | 1:g.1149134G>A | - | | |
NM_003327.4(TNFRSF4):c.173G>T (p.Arg58Leu) | 7293 | TNFRSF4 | Uncertain significance | 370340188 | RCV001239027; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149138 | 1149138 | | | 1:g.1149138C>A | - | | |
NM_003327.4(TNFRSF4):c.163C>T (p.Arg55Cys) | 7293 | TNFRSF4 | Uncertain significance | 769325973 | RCV001982154; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149148 | 1149148 | | | 1149148 | - | | |
NM_003327.4(TNFRSF4):c.152G>C (p.Gly51Ala) | 7293 | TNFRSF4 | Uncertain significance | 926489272 | RCV000821371; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149159 | 1149159 | | | 1:g.1149159C>G | - | | |
NM_003327.4(TNFRSF4):c.150C>T (p.Asn50=) | 7293 | TNFRSF4 | Likely benign | 374671814 | RCV002106101; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149161 | 1149161 | | | 1149161 | - | | |
NM_003327.4(TNFRSF4):c.146-2A>G | 7293 | TNFRSF4 | Uncertain significance | 983879173 | RCV000703839; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149167 | 1149167 | | | NC_000001.10:g.1149167T>C | - | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.146-4G>A | 7293 | TNFRSF4 | Likely benign | 1017055990 | RCV002109979; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149169 | 1149169 | | | 1149169 | - | | |
NM_003327.4(TNFRSF4):c.146-4G>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV002933213; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149169 | 1149169 | | | NC_000001.10:g.1149169C>A | - | | |
NM_003327.4(TNFRSF4):c.146-32_146-15dup | 7293 | TNFRSF4 | Likely benign | -1 | RCV002811522; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149179 | 1149180 | | | NC_000001.10:g.1149183_1149200dup | - | | |
NM_003327.4(TNFRSF4):c.146-15C>T | 7293 | TNFRSF4 | Benign | 202012354 | RCV001520583; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149180 | 1149180 | | | 1149180 | - | | |
NM_003327.4(TNFRSF4):c.146-18C>T | 7293 | TNFRSF4 | Likely benign | 767867744 | RCV002143059; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149183 | 1149183 | | | 1149183 | - | | |
NM_003327.4(TNFRSF4):c.145+20C>T | 7293 | TNFRSF4 | Likely benign | -1 | RCV003084453; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149343 | 1149343 | | | NC_000001.10:g.1149343G>A | - | | |
NM_003327.4(TNFRSF4):c.145+20C>G | 7293 | TNFRSF4 | Likely benign | -1 | RCV002852879; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149343 | 1149343 | | | NC_000001.10:g.1149343G>C | - | | |
NM_003327.4(TNFRSF4):c.145+17G>A | 7293 | TNFRSF4 | Likely benign | 750396022 | RCV002119838; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149346 | 1149346 | | | 1149346 | - | | |
NM_003327.4(TNFRSF4):c.145+6G>A | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002586847; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149357 | 1149357 | | | NC_000001.10:g.1149357C>T | - | | |
NM_003327.4(TNFRSF4):c.145+5G>A | 7293 | TNFRSF4 | Uncertain significance | 1290256405 | RCV001963558; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149358 | 1149358 | | | 1149358 | - | | |
NM_003327.4(TNFRSF4):c.132C>T (p.His44=) | 7293 | TNFRSF4 | Likely benign | 375760850 | RCV000886977; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149376 | 1149376 | | | 1:g.1149376G>A | - | | |
NM_003327.4(TNFRSF4):c.125G>A (p.Cys42Tyr) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003068633; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149383 | 1149383 | | | NC_000001.10:g.1149383C>T | - | | |
NM_003327.4(TNFRSF4):c.121C>T (p.Arg41Trp) | 7293 | TNFRSF4 | Uncertain significance | 748879803 | RCV001364527; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149387 | 1149387 | | | 1149387 | - | | |
NM_003327.4(TNFRSF4):c.117C>T (p.Asn39=) | 7293 | TNFRSF4 | Likely benign | 771662473 | RCV002133690; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149391 | 1149391 | | | 1149391 | - | | |
NM_003327.4(TNFRSF4):c.111C>T (p.Pro37=) | 7293 | TNFRSF4 | Likely benign | 200983968 | RCV000879033; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149397 | 1149397 | | | 1:g.1149397G>A | - | | |
NM_003327.4(TNFRSF4):c.111del (p.Ser38fs) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV002819513; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149397 | 1149397 | | | NC_000001.10:g.1149400del | - | | |
NM_003327.4(TNFRSF4):c.104C>T (p.Thr35Ile) | 7293 | TNFRSF4 | Uncertain significance | 915896849 | RCV001996477; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149404 | 1149404 | | | 1149404 | - | | |
NM_003327.4(TNFRSF4):c.96C>T (p.Val32=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV003091326; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149412 | 1149412 | | | | - | | |
NM_003327.4(TNFRSF4):c.88C>T (p.His30Tyr) | 7293 | TNFRSF4 | Uncertain significance | 1649348844 | RCV001940351; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149420 | 1149420 | | | 1149420 | - | | |
NM_003327.4(TNFRSF4):c.81G>A (p.Thr27=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV003058705; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149427 | 1149427 | | | | - | | |
NM_003327.4(TNFRSF4):c.80C>T (p.Thr27Met) | 7293 | TNFRSF4 | Uncertain significance | 775900244 | RCV000689630; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149428 | 1149428 | | | 1:g.1149428G>A | - | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.76G>A (p.Val26Met) | 7293 | TNFRSF4 | Uncertain significance | 1273445446 | RCV001065548; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149432 | 1149432 | | | 1:g.1149432C>T | - | | |
NM_003327.4(TNFRSF4):c.75C>T (p.Thr25=) | 7293 | TNFRSF4 | Likely benign | 142774962 | RCV000891796; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149433 | 1149433 | | | 1:g.1149433G>A | - | | |
NM_003327.4(TNFRSF4):c.55C>G (p.Leu19Val) | 7293 | TNFRSF4 | Uncertain significance | 931411183 | RCV001968642; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149453 | 1149453 | | | 1149453 | - | | |
NM_003327.4(TNFRSF4):c.42G>A (p.Ala14=) | 7293 | TNFRSF4 | Benign | 556058356 | RCV002066408; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149466 | 1149466 | | | 1:g.1149466C>T | - | | |
NM_003327.4(TNFRSF4):c.40G>A (p.Ala14Thr) | 7293 | TNFRSF4 | Uncertain significance | 2100956904 | RCV001902760; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149468 | 1149468 | | | 1149468 | - | | |
NM_003327.4(TNFRSF4):c.37T>C (p.Cys13Arg) | 7293 | TNFRSF4 | Uncertain significance | 757810037 | RCV001223899; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149471 | 1149471 | | | 1:g.1149471A>G | - | | |
NM_003327.4(TNFRSF4):c.36G>A (p.Pro12=) | 7293 | TNFRSF4 | Likely benign | 777345366 | RCV001418454; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149472 | 1149472 | | | 1149472 | - | | |
NM_003327.4(TNFRSF4):c.35C>T (p.Pro12Leu) | 7293 | TNFRSF4 | Uncertain significance | 771462465 | RCV001054037; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149473 | 1149473 | | | 1:g.1149473G>A | - | | |
NM_003327.4(TNFRSF4):c.35C>G (p.Pro12Arg) | 7293 | TNFRSF4 | Uncertain significance | 771462465 | RCV001048845|RCV002553190; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1149473 | 1149473 | | | 1:g.1149473G>C | - | | |
NM_003327.4(TNFRSF4):c.34C>T (p.Pro12Ser) | 7293 | TNFRSF4 | Uncertain significance | 746209318 | RCV000810307; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149474 | 1149474 | | | 1:g.1149474G>A | - | | |
NM_003327.4(TNFRSF4):c.31G>A (p.Gly11Arg) | 7293 | TNFRSF4 | Uncertain significance | 376504072 | RCV000816564; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149477 | 1149477 | | | 1:g.1149477C>T | - | | |
NM_003327.4(TNFRSF4):c.30C>G (p.Arg10=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002715816; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149478 | 1149478 | | | | - | | |
NM_003327.4(TNFRSF4):c.30C>T (p.Arg10=) | 7293 | TNFRSF4 | Likely benign | -1 | RCV002761335; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149478 | 1149478 | | | | - | | |
NM_003327.4(TNFRSF4):c.29G>T (p.Arg10Leu) | 7293 | TNFRSF4 | Uncertain significance | 774474644 | RCV001989804; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149479 | 1149479 | | | 1149479 | - | | |
NM_003327.4(TNFRSF4):c.28C>T (p.Arg10Cys) | 7293 | TNFRSF4 | Benign | 35304565 | RCV000559880; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149480 | 1149480 | | | NC_000001.10:g.1149480G>A | ClinGen:CA512709 | C3810053 615593 Immunodeficiency 16; | |
NM_003327.4(TNFRSF4):c.22C>T (p.Leu8=) | 7293 | TNFRSF4 | Likely benign | 2100956977 | RCV002142052; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149486 | 1149486 | | | 1149486 | - | | |
NM_003327.4(TNFRSF4):c.20G>A (p.Arg7Gln) | 7293 | TNFRSF4 | Uncertain significance | 555329852 | RCV001065495; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149488 | 1149488 | | | 1:g.1149488C>T | - | | |
NM_003327.4(TNFRSF4):c.19C>T (p.Arg7Trp) | 7293 | TNFRSF4 | Uncertain significance | 572497059 | RCV001992648|RCV002562924; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149|MeSH:D030342,MedGen:C0950123 | 1 | 1149489 | 1149489 | | | 1149489 | - | | |
NM_003327.4(TNFRSF4):c.16C>T (p.Arg6Trp) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003052880|RCV003052881; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149492 | 1149492 | | | NC_000001.10:g.1149492G>A | - | | |
NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp) | 7293 | TNFRSF4 | Uncertain significance | 979161075 | RCV001212948; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149494 | 1149494 | | | 1:g.1149494G>T | - | | |
NM_003327.4(TNFRSF4):c.11G>A (p.Gly4Glu) | 7293 | TNFRSF4 | Uncertain significance | 1295347453 | RCV002046192; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149497 | 1149497 | | | 1149497 | - | | |
NM_003327.4(TNFRSF4):c.7G>C (p.Val3Leu) | 7293 | TNFRSF4 | Likely benign | 751046781 | RCV000907088; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149501 | 1149501 | | | 1:g.1149501C>G | - | | |
NM_003327.4(TNFRSF4):c.7G>A (p.Val3Met) | 7293 | TNFRSF4 | Uncertain significance | 751046781 | RCV001308874; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149501 | 1149501 | | | 1149501 | - | | |
NM_003327.4(TNFRSF4):c.6C>T (p.Cys2=) | 7293 | TNFRSF4 | Likely benign | 202161001 | RCV001476851; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149502 | 1149502 | | | 1149502 | - | | |
NM_003327.4(TNFRSF4):c.6C>G (p.Cys2Trp) | 7293 | TNFRSF4 | Uncertain significance | 202161001 | RCV001962229; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149502 | 1149502 | | | 1149502 | - | | |
NM_003327.4(TNFRSF4):c.4T>C (p.Cys2Arg) | 7293 | TNFRSF4 | Uncertain significance | -1 | RCV003009291; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149504 | 1149504 | | | NC_000001.10:g.1149504A>G | - | | |
NM_003327.4(TNFRSF4):c.1A>T (p.Met1Leu) | 7293 | TNFRSF4 | Uncertain significance | 2100957059 | RCV001970684; | N | MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593, Orphanet:431149 | 1 | 1149507 | 1149507 | | | 1149507 | - | | |