Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000874.5(IFNAR2):c.236del (p.Asp78_Leu79insTer) | 3455 | IFNAR2 | Pathogenic | 1310889473 | RCV001283731|RCV001780205|RCV001879919; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669|MedGen:CN517202 | 21 | 34619035 | 34619035 | | | 34619034 | OMIM:602376.0003 | | |
NM_000874.5(IFNAR2):c.555_559del (p.Ile185fs) | 3455 | IFNAR2 | Pathogenic | 1312285586 | RCV001283730|RCV001780204|RCV001879882; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669|MedGen:CN517202 | 21 | 34624981 | 34624985 | | | 34624980 | OMIM:602376.0004 | | |
NC_000012.11:g.(?_56737153)_(56750375_?)dup | 6773 | STAT2 | Uncertain significance | -1 | RCV000652760; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737153 | 56750375 | | | | - | C4225260 616636 Immunodeficiency 44; | |
NC_000012.11:g.(?_56737153)_(56737939_?)dup | 6773 | STAT2 | Uncertain significance | -1 | RCV000815900; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737153 | 56737939 | | | | - | | |
NM_005419.4(STAT2):c.2543C>T (p.Pro848Leu) | 6773 | STAT2 | Uncertain significance | 2136031620 | RCV002024665; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737186 | 56737186 | | | 56737186 | - | | |
NM_005419.4(STAT2):c.2539A>G (p.Met847Val) | 6773 | STAT2 | Uncertain significance | 772907846 | RCV001918583; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737190 | 56737190 | | | 56737190 | - | | |
NM_005419.4(STAT2):c.2537T>G (p.Leu846Trp) | 6773 | STAT2 | Uncertain significance | -1 | RCV003030902; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737192 | 56737192 | | | NC_000012.11:g.56737192A>C | - | | |
NM_005419.4(STAT2):c.2536T>C (p.Leu846=) | 6773 | STAT2 | Likely benign | 760480590 | RCV002135225; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737193 | 56737193 | | | 56737193 | - | | |
NM_005419.4(STAT2):c.2533C>A (p.Pro845Thr) | 6773 | STAT2 | Uncertain significance | 1876858706 | RCV001980191; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737196 | 56737196 | | | 56737196 | - | | |
NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn) | 6773 | STAT2 | Uncertain significance | 1356843849 | RCV000793646; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737204 | 56737204 | | | 12:g.56737204G>T | - | | |
NM_005419.4(STAT2):c.2525C>G (p.Thr842Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002780207; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737204 | 56737204 | | | NC_000012.11:g.56737204G>C | - | | |
NM_005419.4(STAT2):c.2507G>A (p.Arg836His) | 6773 | STAT2 | Uncertain significance | 759254318 | RCV000810155; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737222 | 56737222 | | | 12:g.56737222C>T | - | | |
NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys) | 6773 | STAT2 | Uncertain significance | 752192658 | RCV000798430; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737223 | 56737223 | | | 12:g.56737223G>A | - | | |
NM_005419.4(STAT2):c.2500G>A (p.Val834Ile) | 6773 | STAT2 | Uncertain significance | -1 | RCV002637719; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737229 | 56737229 | | | NC_000012.11:g.56737229C>T | - | | |
NM_005419.4(STAT2):c.2493G>A (p.Glu831=) | 6773 | STAT2 | Likely benign | 376716964 | RCV001459843; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737236 | 56737236 | | | 56737236 | - | | |
NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys) | 6773 | STAT2 | Uncertain significance | 755127513 | RCV000810908; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737238 | 56737238 | | | 12:g.56737238C>T | - | | |
NM_005419.4(STAT2):c.2485G>A (p.Val829Met) | 6773 | STAT2 | Uncertain significance | 144221064 | RCV001343134; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737244 | 56737244 | | | 56737244 | - | | |
NM_005419.4(STAT2):c.2478G>T (p.Gln826His) | 6773 | STAT2 | Benign | 2229363 | RCV000548114|RCV002263813; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900 | 12 | 56737251 | 56737251 | | | 12:g.56737251C>A | ClinGen:CA6630241 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp) | 6773 | STAT2 | Uncertain significance | 113083644 | RCV001204786; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737255 | 56737255 | | | 12:g.56737255C>T | - | | |
NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys) | 6773 | STAT2 | Benign | 1555169006 | RCV000537740; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737256 | 56737257 | | | NC_000012.11:g.56737256_56737257delinsAG | ClinGen:CA658658160 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.2472T>C (p.Ala824=) | 6773 | STAT2 | Benign | 61754171 | RCV000455107|RCV002056705; | N | MedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737257 | 56737257 | | | 12:g.56737257A>G | ClinGen:CA6630244 | CN169374 not specified; | |
NM_005419.4(STAT2):c.2451G>A (p.Pro817=) | 6773 | STAT2 | Likely benign | 372474228 | RCV002540985; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737278 | 56737278 | | | 12:g.56737278C>T | - | | |
NM_005419.4(STAT2):c.2450C>T (p.Pro817Leu) | 6773 | STAT2 | Uncertain significance | 768593805 | RCV001048561; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737279 | 56737279 | | | 12:g.56737279G>A | - | | |
NM_005419.4(STAT2):c.2446A>C (p.Met816Leu) | 6773 | STAT2 | Uncertain significance | -1 | RCV003118609; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737283 | 56737283 | | | NC_000012.11:g.56737283T>G | - | | |
NM_005419.4(STAT2):c.2414-4C>T | 6773 | STAT2 | Likely benign | 536003567 | RCV001438203; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737319 | 56737319 | | | 56737319 | - | | |
NM_005419.4(STAT2):c.2413+14T>C | 6773 | STAT2 | Likely benign | -1 | RCV002623259; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737595 | 56737595 | | | NC_000012.11:g.56737595A>G | - | | |
NM_005419.4(STAT2):c.2403G>A (p.Glu801=) | 6773 | STAT2 | Likely benign | 376647660 | RCV002075529; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737619 | 56737619 | | | 56737619 | - | | |
NM_005419.4(STAT2):c.2377T>G (p.Cys793Gly) | 6773 | STAT2 | Uncertain significance | 2136033300 | RCV001902042; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737645 | 56737645 | | | 56737645 | - | | |
NM_005419.4(STAT2):c.2373G>A (p.Leu791=) | 6773 | STAT2 | Likely benign | 200954848 | RCV002151947; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737649 | 56737649 | | | 56737649 | - | | |
NM_005419.4(STAT2):c.2352G>C (p.Gln784His) | 6773 | STAT2 | Uncertain significance | 371190101 | RCV001915005|RCV002555264; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56737670 | 56737670 | | | 56737670 | - | | |
NM_005419.4(STAT2):c.2344G>A (p.Val782Ile) | 6773 | STAT2 | Uncertain significance | -1 | RCV002720919; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737678 | 56737678 | | | NC_000012.11:g.56737678C>T | - | | |
NM_005419.4(STAT2):c.2336A>G (p.Gln779Arg) | 6773 | STAT2 | Conflicting interpretations of pathogenicity | 540878199 | RCV001967623|RCV003289255; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56737686 | 56737686 | | | 56737686 | - | | |
NM_005419.4(STAT2):c.2323C>T (p.Pro775Ser) | 6773 | STAT2 | Uncertain significance | 1311671194 | RCV002024137; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737699 | 56737699 | | | 56737699 | - | | |
NM_005419.4(STAT2):c.2299C>G (p.Leu767Val) | 6773 | STAT2 | Uncertain significance | 2136033628 | RCV001965547; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737723 | 56737723 | | | 56737723 | - | | |
NM_005419.4(STAT2):c.2286G>A (p.Val762=) | 6773 | STAT2 | Likely benign | -1 | RCV002876864; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737736 | 56737736 | | | | - | | |
NM_005419.4(STAT2):c.2284G>A (p.Val762Met) | 6773 | STAT2 | Uncertain significance | 764242664 | RCV001296182|RCV003355359; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56737738 | 56737738 | | | 56737738 | - | | |
NM_005419.4(STAT2):c.2271C>T (p.Ser757=) | 6773 | STAT2 | Likely benign | 2136033711 | RCV001441092; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737751 | 56737751 | | | 56737751 | - | | |
NM_005419.4(STAT2):c.2269T>C (p.Ser757Pro) | 6773 | STAT2 | Uncertain significance | 757246041 | RCV001212070; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737753 | 56737753 | | | 12:g.56737753A>G | - | | |
NM_005419.4(STAT2):c.2250G>A (p.Glu750=) | 6773 | STAT2 | Likely benign | -1 | RCV002695899; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737772 | 56737772 | | | | - | | |
NM_005419.4(STAT2):c.2244G>T (p.Gly748=) | 6773 | STAT2 | Likely benign | 1876969620 | RCV002078210; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737778 | 56737778 | | | 56737778 | - | | |
NM_005419.4(STAT2):c.2239C>A (p.Leu747Met) | 6773 | STAT2 | Uncertain significance | 779990362 | RCV001295286; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737783 | 56737783 | | | 56737783 | - | | |
NM_005419.4(STAT2):c.2236G>C (p.Asp746His) | 6773 | STAT2 | Uncertain significance | 760470820 | RCV001316756; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737786 | 56737786 | | | 56737786 | - | | |
NM_005419.4(STAT2):c.2226G>A (p.Lys742=) | 6773 | STAT2 | Likely benign | 773936572 | RCV001500282; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737796 | 56737796 | | | 56737796 | - | | |
NM_005419.4(STAT2):c.2212G>C (p.Glu738Gln) | 6773 | STAT2 | Uncertain significance | -1 | RCV002741739; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737810 | 56737810 | | | NC_000012.11:g.56737810C>G | - | | |
NM_005419.4(STAT2):c.2207A>C (p.Asp736Ala) | 6773 | STAT2 | Uncertain significance | -1 | RCV002711968; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737815 | 56737815 | | | NC_000012.11:g.56737815T>G | - | | |
NM_005419.4(STAT2):c.2196G>C (p.Glu732Asp) | 6773 | STAT2 | Uncertain significance | -1 | RCV002616455|RCV002628128; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56737826 | 56737826 | | | NC_000012.11:g.56737826C>G | - | | |
NM_005419.4(STAT2):c.2192C>A (p.Pro731Gln) | 6773 | STAT2 | Uncertain significance | -1 | RCV002741740; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737830 | 56737830 | | | NC_000012.11:g.56737830G>T | - | | |
NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser) | 6773 | STAT2 | Uncertain significance | 955030312 | RCV000805508; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737831 | 56737831 | | | 12:g.56737831G>A | - | | |
NM_005419.4(STAT2):c.2169G>A (p.Leu723=) | 6773 | STAT2 | Likely benign | -1 | RCV002909112; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737853 | 56737853 | | | | - | | |
NM_005419.4(STAT2):c.2163A>G (p.Leu721=) | 6773 | STAT2 | Likely benign | 1475571946 | RCV001501262; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737859 | 56737859 | | | 56737859 | - | | |
NM_005419.4(STAT2):c.2152C>T (p.Leu718=) | 6773 | STAT2 | Likely benign | 750452354 | RCV002115343; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737870 | 56737870 | | | 56737870 | - | | |
NM_005419.4(STAT2):c.2130_2135del (p.Glu711_Leu712del) | 6773 | STAT2 | Uncertain significance | 1876989869 | RCV001345666; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737887 | 56737892 | | | 56737886 | - | | |
NM_005419.4(STAT2):c.2127G>A (p.Pro709=) | 6773 | STAT2 | Likely benign | 140174092 | RCV000948398; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737895 | 56737895 | | | 12:g.56737895C>T | - | | |
NM_005419.4(STAT2):c.2116C>T (p.Leu706=) | 6773 | STAT2 | Likely benign | 144878478 | RCV001415294; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737906 | 56737906 | | | 56737906 | - | | |
NM_005419.4(STAT2):c.2109G>A (p.Val703=) | 6773 | STAT2 | Likely benign | 189063117 | RCV001440601; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737913 | 56737913 | | | 56737913 | - | | |
NM_005419.4(STAT2):c.2103-17T>C | 6773 | STAT2 | Likely benign | 772709033 | RCV001412067; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737936 | 56737936 | | | 56737936 | - | | |
NM_005419.4(STAT2):c.2103-19T>C | 6773 | STAT2 | Likely benign | 746384106 | RCV001951579; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56737938 | 56737938 | | | 56737938 | - | | |
NC_000012.11:g.(?_56739910)_(56750375_?)dup | 6773 | STAT2 | Uncertain significance | -1 | RCV000708000; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739910 | 56750375 | | | | - | C4225260 616636 Immunodeficiency 44; | |
NC_000012.11:g.(?_56739910)_(56750355_?)dup | 6773 | STAT2 | Uncertain significance | -1 | RCV001955802; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739910 | 56750355 | | | -1 | - | | |
NC_000012.11:g.(?_56739910)_(56740759_?)del | 6773 | STAT2 | Uncertain significance | -1 | RCV003116364; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739910 | 56740759 | | | | - | | |
NM_005419.4(STAT2):c.2102+9_2102+12dup | 6773 | STAT2 | Likely benign | 2136041821 | RCV002092005; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739917 | 56739918 | | | 56739917 | - | | |
NM_005419.4(STAT2):c.2099A>G (p.Asn700Ser) | 6773 | STAT2 | Uncertain significance | 368002633 | RCV001532697|RCV001882591|RCV002568213; | N | MedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56739933 | 56739933 | | | 56739933 | - | | |
NM_005419.4(STAT2):c.2079C>G (p.His693Gln) | 6773 | STAT2 | Uncertain significance | 200918874 | RCV001887361; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739953 | 56739953 | | | 56739953 | - | | |
NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln) | 6773 | STAT2 | Uncertain significance | 1196807040 | RCV001043810; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739972 | 56739972 | | | 12:g.56739972C>T | - | | |
NM_005419.4(STAT2):c.2059C>T (p.Arg687Trp) | 6773 | STAT2 | Uncertain significance | 746480042 | RCV001321281; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739973 | 56739973 | | | 56739973 | - | | |
NM_005419.4(STAT2):c.2053C>A (p.Gln685Lys) | 6773 | STAT2 | Uncertain significance | -1 | RCV002580413; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739979 | 56739979 | | | NC_000012.11:g.56739979G>T | - | | |
NM_005419.4(STAT2):c.2050C>G (p.Leu684Val) | 6773 | STAT2 | Uncertain significance | 1877427436 | RCV001902162; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739982 | 56739982 | | | 56739982 | - | | |
NM_005419.4(STAT2):c.2045-9T>G | 6773 | STAT2 | Uncertain significance | 1291159527 | RCV001335269; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56739996 | 56739996 | | | 56739996 | - | | |
NM_005419.4(STAT2):c.2045-13A>G | 6773 | STAT2 | Likely benign | 1877431475 | RCV002101502; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740000 | 56740000 | | | 56740000 | - | | |
NM_005419.4(STAT2):c.2045-14T>C | 6773 | STAT2 | Likely benign | -1 | RCV002881017; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740001 | 56740001 | | | NC_000012.11:g.56740001A>G | - | | |
NM_005419.4(STAT2):c.2044+15C>T | 6773 | STAT2 | Likely benign | 1432576150 | RCV002158725; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740211 | 56740211 | | | 56740211 | - | | |
NM_005419.4(STAT2):c.2044+10G>A | 6773 | STAT2 | Likely benign | 752483816 | RCV000652756; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740216 | 56740216 | | | NC_000012.11:g.56740216C>T | ClinGen:CA6630340 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.2044+9C>T | 6773 | STAT2 | Likely benign | 200444661 | RCV000652755; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740217 | 56740217 | | | 12:g.56740217G>A | ClinGen:CA6630341 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.2036A>G (p.Gln679Arg) | 6773 | STAT2 | Uncertain significance | -1 | RCV003058983; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740234 | 56740234 | | | NC_000012.11:g.56740234T>C | - | | |
NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys) | 6773 | STAT2 | Uncertain significance | 1592467176 | RCV000813545; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740240 | 56740240 | | | 12:g.56740240T>C | - | | |
NM_005419.4(STAT2):c.2008C>T (p.Arg670Trp) | 6773 | STAT2 | Uncertain significance | 1330342244 | RCV001319190; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740262 | 56740262 | | | 56740262 | - | | |
NM_005419.4(STAT2):c.2004C>G (p.Ile668Met) | 6773 | STAT2 | Uncertain significance | 199528062 | RCV000652750|RCV000788168; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:CN517202 | 12 | 56740266 | 56740266 | | | NC_000012.11:g.56740266G>C | ClinGen:CA6630346 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln) | 6773 | STAT2 | Uncertain significance | 200606416 | RCV001066299|RCV002480423; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166; MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886 | 12 | 56740270 | 56740270 | | | 12:g.56740270C>T | - | | |
NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter) | 6773 | STAT2 | Pathogenic | 1565648608 | RCV000701416; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740271 | 56740271 | | | 12:g.56740271G>A | OMIM:600556.0005 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1985G>A (p.Arg662His) | 6773 | STAT2 | Uncertain significance | 773618917 | RCV001297508; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740285 | 56740285 | | | 56740285 | - | | |
NM_005419.4(STAT2):c.1984C>T (p.Arg662Cys) | 6773 | STAT2 | Uncertain significance | -1 | RCV002770123|RCV003443079; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900 | 12 | 56740286 | 56740286 | | | NC_000012.11:g.56740286G>A | - | | |
NM_005419.4(STAT2):c.1970C>G (p.Pro657Arg) | 6773 | STAT2 | Uncertain significance | -1 | RCV002294809; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740300 | 56740300 | | | 56740300 | - | | |
NM_005419.4(STAT2):c.1969C>T (p.Pro657Ser) | 6773 | STAT2 | Uncertain significance | 369986109 | RCV001886348|RCV003164271; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56740301 | 56740301 | | | 56740301 | - | | |
NM_005419.4(STAT2):c.1965T>C (p.Asn655=) | 6773 | STAT2 | Likely benign | -1 | RCV002893847; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740305 | 56740305 | | | | - | | |
NM_005419.4(STAT2):c.1964A>C (p.Asn655Thr) | 6773 | STAT2 | Uncertain significance | -1 | RCV003008171; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740306 | 56740306 | | | NC_000012.11:g.56740306T>G | - | | |
NM_005419.4(STAT2):c.1963A>C (p.Asn655His) | 6773 | STAT2 | Uncertain significance | 2136043124 | RCV001937576; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740307 | 56740307 | | | 56740307 | - | | |
NM_005419.4(STAT2):c.1957GAG[1] (p.Glu654del) | 6773 | STAT2 | Uncertain significance | 775996290 | RCV000700216; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740308 | 56740310 | | | NC_000012.11:g.56740308CTC[1] | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1936C>T (p.Arg646Cys) | 6773 | STAT2 | Uncertain significance | 763862558 | RCV001916176; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740334 | 56740334 | | | 56740334 | - | | |
NM_005419.4(STAT2):c.1922T>C (p.Leu641Pro) | 6773 | STAT2 | Uncertain significance | 751279183 | RCV001209794; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740348 | 56740348 | | | 12:g.56740348A>G | - | | |
NM_005419.4(STAT2):c.1920G>A (p.Pro640=) | 6773 | STAT2 | Likely benign | 764359554 | RCV002105357; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740350 | 56740350 | | | 56740350 | - | | |
NM_005419.4(STAT2):c.1908G>A (p.Leu636=) | 6773 | STAT2 | Likely benign | 752167819 | RCV001477022; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740362 | 56740362 | | | 56740362 | - | | |
NM_005419.4(STAT2):c.1903G>A (p.Val635Met) | 6773 | STAT2 | Uncertain significance | 1278719364 | RCV001040166; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740367 | 56740367 | | | 12:g.56740367C>T | - | | |
NM_005419.4(STAT2):c.1896G>A (p.Thr632=) | 6773 | STAT2 | Likely benign | -1 | RCV003070423; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740374 | 56740374 | | | | - | | |
NM_005419.4(STAT2):c.1890G>A (p.Pro630=) | 6773 | STAT2 | Likely benign | 111274768 | RCV001435394; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740380 | 56740380 | | | 56740380 | - | | |
NM_005419.4(STAT2):c.1873A>T (p.Ile625Phe) | 6773 | STAT2 | Uncertain significance | 747243330 | RCV000788167|RCV002535768; | N | MedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740397 | 56740397 | | | 12:g.56740397T>A | - | | |
NM_005419.4(STAT2):c.1864A>C (p.Lys622Gln) | 6773 | STAT2 | Uncertain significance | 151170889 | RCV000691263; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740406 | 56740406 | | | NC_000012.11:g.56740406T>G | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1862-4C>T | 6773 | STAT2 | Likely benign | -1 | RCV002675803; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740412 | 56740412 | | | NC_000012.11:g.56740412G>A | - | | |
NM_005419.4(STAT2):c.1862-8C>T | 6773 | STAT2 | Likely benign | -1 | RCV002868010; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740416 | 56740416 | | | NC_000012.11:g.56740416G>A | - | | |
NM_005419.4(STAT2):c.1862-10C>T | 6773 | STAT2 | Likely benign | -1 | RCV002814802; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740418 | 56740418 | | | NC_000012.11:g.56740418G>A | - | | |
NM_005419.4(STAT2):c.1862-15G>T | 6773 | STAT2 | Likely benign | -1 | RCV002755711; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740423 | 56740423 | | | NC_000012.11:g.56740423C>A | - | | |
NM_005419.4(STAT2):c.1857T>G (p.Asp619Glu) | 6773 | STAT2 | Uncertain significance | 2136044076 | RCV002031770; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740607 | 56740607 | | | 56740607 | - | | |
NM_005419.4(STAT2):c.1852C>T (p.Gln618Ter) | 6773 | STAT2 | Pathogenic | 1391401672 | RCV001962971; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740612 | 56740612 | | | 56740612 | - | | |
NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter) | 6773 | STAT2 | Pathogenic | 781522558 | RCV000202385; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740628 | 56740628 | | | 12:g.56740628G>T | ClinGen:CA214659,OMIM:600556.0002 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1827_1829del (p.Ile610del) | 6773 | STAT2 | Uncertain significance | 1592468046 | RCV000816111; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740635 | 56740637 | | | 12:g.56740635_56740637del | - | | |
NM_005419.4(STAT2):c.1826del (p.Gly609fs) | 6773 | STAT2 | Pathogenic | 2136044173 | RCV002002410; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740638 | 56740638 | | | 56740637 | - | | |
NM_005419.4(STAT2):c.1823G>C (p.Gly608Ala) | 6773 | STAT2 | Uncertain significance | 746061720 | RCV001061575; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740641 | 56740641 | | | 12:g.56740641C>G | - | | |
NM_005419.4(STAT2):c.1815G>A (p.Ser605=) | 6773 | STAT2 | Likely benign | 369254719 | RCV001491586; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740649 | 56740649 | | | 56740649 | - | | |
NM_005419.4(STAT2):c.1812A>G (p.Glu604=) | 6773 | STAT2 | Likely benign | 1415888789 | RCV001484049; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740652 | 56740652 | | | 56740652 | - | | |
NM_005419.4(STAT2):c.1798C>T (p.Leu600=) | 6773 | STAT2 | Likely benign | -1 | RCV003010170; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740666 | 56740666 | | | | - | | |
NM_005419.4(STAT2):c.1797A>G (p.Leu599=) | 6773 | STAT2 | Likely benign | 774163415 | RCV002101432; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740667 | 56740667 | | | 56740667 | - | | |
NM_005419.4(STAT2):c.1791del (p.Leu599fs) | 6773 | STAT2 | Pathogenic | 1877554115 | RCV001241439; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740673 | 56740673 | | | 12:g.56740673_56740673del | - | | |
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) | 6773 | STAT2 | Benign | 2066807 | RCV000455792|RCV000559305; | N | MedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740682 | 56740682 | | | 12:g.56740682C>G | ClinGen:CA6630398 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1766T>C (p.Leu589Pro) | 6773 | STAT2 | Uncertain significance | 753344785 | RCV001342111; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740698 | 56740698 | | | 56740698 | - | | |
NM_005419.4(STAT2):c.1762C>T (p.Arg588Trp) | 6773 | STAT2 | Uncertain significance | 201461349 | RCV001203392; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740702 | 56740702 | | | 12:g.56740702G>A | - | | |
NM_005419.4(STAT2):c.1760G>A (p.Arg587His) | 6773 | STAT2 | Uncertain significance | -1 | RCV003090707; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740704 | 56740704 | | | NC_000012.11:g.56740704C>T | - | | |
NM_005419.4(STAT2):c.1749G>C (p.Arg583=) | 6773 | STAT2 | Likely benign | 1565649322 | RCV001423666; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740715 | 56740715 | | | 56740715 | - | | |
NM_005419.4(STAT2):c.1748G>A (p.Arg583Gln) | 6773 | STAT2 | Uncertain significance | 1018464203 | RCV001959387; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740716 | 56740716 | | | 56740716 | - | | |
NM_005419.4(STAT2):c.1745G>A (p.Ser582Asn) | 6773 | STAT2 | Uncertain significance | 1490818178 | RCV001344062; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740719 | 56740719 | | | 56740719 | - | | |
NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu) | 6773 | STAT2 | Uncertain significance | 200944055 | RCV000652752; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740737 | 56740737 | | | NC_000012.11:g.56740737C>A | ClinGen:CA385260186 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1726C>T (p.Arg576Cys) | 6773 | STAT2 | Uncertain significance | 780130229 | RCV001889697; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740738 | 56740738 | | | 56740738 | - | | |
NM_005419.4(STAT2):c.1725-9G>C | 6773 | STAT2 | Likely benign | -1 | RCV002685697; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740748 | 56740748 | | | NC_000012.11:g.56740748C>G | - | | |
NM_005419.4(STAT2):c.1725-13C>G | 6773 | STAT2 | Likely benign | -1 | RCV003046523; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56740752 | 56740752 | | | NC_000012.11:g.56740752G>C | - | | |
NM_005419.4(STAT2):c.1704G>A (p.Leu568=) | 6773 | STAT2 | Likely benign | -1 | RCV002976025; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742333 | 56742333 | | | | - | | |
NM_005419.4(STAT2):c.1694A>G (p.His565Arg) | 6773 | STAT2 | Uncertain significance | -1 | RCV002982963; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742343 | 56742343 | | | NC_000012.11:g.56742343T>C | - | | |
NM_005419.4(STAT2):c.1693C>T (p.His565Tyr) | 6773 | STAT2 | Uncertain significance | 143700674 | RCV000806496; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742344 | 56742344 | | | 12:g.56742344G>A | - | | |
NM_005419.4(STAT2):c.1680T>A (p.Ile560=) | 6773 | STAT2 | Likely benign | 777649174 | RCV001473939; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742357 | 56742357 | | | 56742357 | - | | |
NM_005419.4(STAT2):c.1674C>A (p.Asp558Glu) | 6773 | STAT2 | Uncertain significance | -1 | RCV002597088; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742363 | 56742363 | | | NC_000012.11:g.56742363G>T | - | | |
NM_005419.4(STAT2):c.1665A>G (p.Thr555=) | 6773 | STAT2 | Likely benign | 150170283 | RCV001465792; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742372 | 56742372 | | | 56742372 | - | | |
NM_005419.4(STAT2):c.1642C>T (p.Pro548Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV003121138; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742395 | 56742395 | | | NC_000012.11:g.56742395G>A | - | | |
NM_005419.4(STAT2):c.1632A>G (p.Arg544=) | 6773 | STAT2 | Likely benign | 1173440726 | RCV001470349; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742405 | 56742405 | | | 56742405 | - | | |
NM_005419.4(STAT2):c.1631G>A (p.Arg544Gln) | 6773 | STAT2 | Uncertain significance | 774850939 | RCV002043931; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742406 | 56742406 | | | 56742406 | - | | |
NM_005419.4(STAT2):c.1630-2A>G | 6773 | STAT2 | Likely pathogenic | -1 | RCV002837544; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742409 | 56742409 | | | NC_000012.11:g.56742409T>C | - | | |
NM_005419.4(STAT2):c.1630-9C>T | 6773 | STAT2 | Likely benign | -1 | RCV003014252; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742416 | 56742416 | | | NC_000012.11:g.56742416G>A | - | | |
NM_005419.4(STAT2):c.1630-13A>G | 6773 | STAT2 | Likely benign | -1 | RCV003077223; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742420 | 56742420 | | | NC_000012.11:g.56742420T>C | - | | |
NM_005419.4(STAT2):c.1629+18G>C | 6773 | STAT2 | Likely benign | -1 | RCV002870677; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742518 | 56742518 | | | NC_000012.11:g.56742518C>G | - | | |
NM_005419.4(STAT2):c.1629+17T>C | 6773 | STAT2 | Likely benign | -1 | RCV002741238; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742519 | 56742519 | | | NC_000012.11:g.56742519A>G | - | | |
NM_005419.4(STAT2):c.1629+12A>G | 6773 | STAT2 | Likely benign | 2136051941 | RCV002169095; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742524 | 56742524 | | | 56742524 | - | | |
NM_005419.4(STAT2):c.1629+7C>T | 6773 | STAT2 | Likely benign | 1555170176 | RCV000652759; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742529 | 56742529 | | | NC_000012.11:g.56742529G>A | ClinGen:CA658797923 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1618G>A (p.Asp540Asn) | 6773 | STAT2 | Uncertain significance | 1877949552 | RCV001349708; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742547 | 56742547 | | | 56742547 | - | | |
NM_005419.4(STAT2):c.1612T>C (p.Trp538Arg) | 6773 | STAT2 | Uncertain significance | 1877950590 | RCV001059438; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742553 | 56742553 | | | 12:g.56742553A>G | - | | |
NM_005419.4(STAT2):c.1611C>G (p.Ser537=) | 6773 | STAT2 | Likely benign | 1229846918 | RCV001460050; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742554 | 56742554 | | | 12:g.56742554G>C | - | | |
NM_005419.4(STAT2):c.1611C>T (p.Ser537=) | 6773 | STAT2 | Likely benign | 1229846918 | RCV002200718; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742554 | 56742554 | | | 56742554 | - | | |
NM_005419.4(STAT2):c.1602ATT[1] (p.Leu536del) | 6773 | STAT2 | Uncertain significance | 1877953548 | RCV001070574; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742558 | 56742560 | | | 12:g.56742558_56742560del | - | | |
NM_005419.4(STAT2):c.1606T>C (p.Leu536=) | 6773 | STAT2 | Likely benign | 2136052162 | RCV001485471; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742559 | 56742559 | | | 56742559 | - | | |
NM_005419.4(STAT2):c.1580del (p.Gln527fs) | 6773 | STAT2 | Pathogenic | 2136052256 | RCV002037674; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742585 | 56742585 | | | 56742584 | - | | |
NM_005419.4(STAT2):c.1577-1G>A | 6773 | STAT2 | Likely pathogenic | 2136052278 | RCV002014075; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742589 | 56742589 | | | 56742589 | - | | |
NM_005419.4(STAT2):c.1577-15C>T | 6773 | STAT2 | Likely benign | -1 | RCV003100258; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742603 | 56742603 | | | NC_000012.11:g.56742603G>A | - | | |
NM_005419.4(STAT2):c.1576+18T>A | 6773 | STAT2 | Likely benign | 200578923 | RCV001480531; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742690 | 56742690 | | | 56742690 | - | | |
NM_005419.4(STAT2):c.1576G>A (p.Gly526Arg) | 6773 | STAT2 | Pathogenic | -1 | RCV003062522; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742708 | 56742708 | | | NC_000012.11:g.56742708C>T | - | | |
NM_005419.4(STAT2):c.1558C>G (p.Leu520Val) | 6773 | STAT2 | Uncertain significance | 2136052949 | RCV001361967; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742726 | 56742726 | | | 56742726 | - | | |
NM_005419.4(STAT2):c.1555A>G (p.Met519Val) | 6773 | STAT2 | Uncertain significance | 190412290 | RCV001935409; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742729 | 56742729 | | | 56742729 | - | | |
NM_005419.4(STAT2):c.1528C>T (p.Arg510Ter) | 6773 | STAT2 | Pathogenic | 2136053029 | RCV001994758; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742756 | 56742756 | | | 56742756 | - | | |
NM_005419.4(STAT2):c.1514CCT[1] (p.Ser506del) | 6773 | STAT2 | Uncertain significance | -1 | RCV003071169; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742765 | 56742767 | | | NC_000012.11:g.56742767GAG[1] | - | | |
NM_005419.4(STAT2):c.1509G>T (p.Gln503His) | 6773 | STAT2 | Uncertain significance | -1 | RCV002297733; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742775 | 56742775 | | | 56742775 | - | | |
NM_005419.4(STAT2):c.1482C>T (p.Ser494=) | 6773 | STAT2 | Likely benign | -1 | RCV002595520; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742802 | 56742802 | | | | - | | |
NM_005419.4(STAT2):c.1467dup (p.Lys490fs) | 6773 | STAT2 | Pathogenic | 763294380 | RCV001949245; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742816 | 56742817 | | | 56742816 | - | | |
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu) | 6773 | STAT2 | Uncertain significance | 138681270 | RCV000788162|RCV000802302|RCV003117576; | N | MedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166| | 12 | 56742818 | 56742818 | | | 12:g.56742818G>A | - | | |
NM_005419.4(STAT2):c.1466C>A (p.Pro489His) | 6773 | STAT2 | Uncertain significance | 138681270 | RCV001048902; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742818 | 56742818 | | | 12:g.56742818G>T | - | | |
NM_005419.4(STAT2):c.1466C>G (p.Pro489Arg) | 6773 | STAT2 | Uncertain significance | 138681270 | RCV001365482; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742818 | 56742818 | | | 56742818 | - | | |
NM_005419.4(STAT2):c.1465C>A (p.Pro489Thr) | 6773 | STAT2 | Uncertain significance | -1 | RCV002617508; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742819 | 56742819 | | | NC_000012.11:g.56742819G>T | - | | |
NM_005419.4(STAT2):c.1465C>G (p.Pro489Ala) | 6773 | STAT2 | Uncertain significance | -1 | RCV002701438; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742819 | 56742819 | | | NC_000012.11:g.56742819G>C | - | | |
NM_005419.4(STAT2):c.1464C>T (p.Pro488=) | 6773 | STAT2 | Likely benign | -1 | RCV002680829; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742820 | 56742820 | | | | - | | |
NM_005419.4(STAT2):c.1463C>T (p.Pro488Leu) | 6773 | STAT2 | Uncertain significance | -1 | RCV002609761; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742821 | 56742821 | | | NC_000012.11:g.56742821G>A | - | | |
NM_005419.4(STAT2):c.1462C>G (p.Pro488Ala) | 6773 | STAT2 | Conflicting interpretations of pathogenicity | 750338004 | RCV000948896|RCV002546016; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56742822 | 56742822 | | | 12:g.56742822G>C | - | | |
NM_005419.4(STAT2):c.1462C>T (p.Pro488Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002806127; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742822 | 56742822 | | | NC_000012.11:g.56742822G>A | - | | |
NM_005419.4(STAT2):c.1445A>T (p.Gln482Leu) | 6773 | STAT2 | Uncertain significance | -1 | RCV002302896; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742839 | 56742839 | | | 56742839 | - | | |
NM_005419.4(STAT2):c.1441-14T>C | 6773 | STAT2 | Likely benign | -1 | RCV002918607; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742857 | 56742857 | | | NC_000012.11:g.56742857A>G | - | | |
NM_005419.4(STAT2):c.1440+16C>T | 6773 | STAT2 | Likely benign | -1 | RCV002594632; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742931 | 56742931 | | | NC_000012.11:g.56742931G>A | - | | |
NM_005419.4(STAT2):c.1440+9G>A | 6773 | STAT2 | Likely benign | 373151952 | RCV001441744; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742938 | 56742938 | | | 56742938 | - | | |
NM_005419.4(STAT2):c.1418A>C (p.Asn473Thr) | 6773 | STAT2 | Uncertain significance | 746423465 | RCV001992235; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742969 | 56742969 | | | 56742969 | - | | |
NM_005419.4(STAT2):c.1404A>G (p.Ser468=) | 6773 | STAT2 | Likely benign | -1 | RCV003091487; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742983 | 56742983 | | | | - | | |
NM_005419.4(STAT2):c.1393G>T (p.Ala465Ser) | 6773 | STAT2 | Uncertain significance | 80325067 | RCV002031331; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742994 | 56742994 | | | 56742994 | - | | |
NM_005419.4(STAT2):c.1390A>G (p.Ile464Val) | 6773 | STAT2 | Benign | 2066811 | RCV000534703; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56742997 | 56742997 | | | 12:g.56742997T>C | ClinGen:CA6630526 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1374C>T (p.Asn458=) | 6773 | STAT2 | Likely benign | -1 | RCV003062778; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743013 | 56743013 | | | | - | | |
NM_005419.4(STAT2):c.1368T>C (p.Ile456=) | 6773 | STAT2 | Likely benign | 901627272 | RCV002136012; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743019 | 56743019 | | | 56743019 | - | | |
NM_005419.4(STAT2):c.1360G>A (p.Val454Met) | 6773 | STAT2 | Uncertain significance | -1 | RCV002585641; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743027 | 56743027 | | | NC_000012.11:g.56743027C>T | - | | |
NM_005419.4(STAT2):c.1350C>T (p.Thr450=) | 6773 | STAT2 | Likely benign | 769526830 | RCV001427620; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743037 | 56743037 | | | 56743037 | - | | |
NM_005419.4(STAT2):c.1345G>A (p.Asp449Asn) | 6773 | STAT2 | Uncertain significance | 766306027 | RCV000703937; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743042 | 56743042 | | | NC_000012.11:g.56743042C>T | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1344G>A (p.Thr448=) | 6773 | STAT2 | Uncertain significance | 776389808 | RCV000807883; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743043 | 56743043 | | | 12:g.56743043C>T | - | | |
NM_005419.4(STAT2):c.1343C>T (p.Thr448Met) | 6773 | STAT2 | Benign | 2066815 | RCV000560792; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743044 | 56743044 | | | NC_000012.11:g.56743044G>A | ClinGen:CA6630534 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1342-16C>T | 6773 | STAT2 | Likely benign | 1479761346 | RCV002140199; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743061 | 56743061 | | | 56743061 | - | | |
NM_005419.4(STAT2):c.1341+17G>A | 6773 | STAT2 | Likely benign | -1 | RCV003064885; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743193 | 56743193 | | | NC_000012.11:g.56743193C>T | - | | |
NM_005419.4(STAT2):c.1331A>C (p.Gln444Pro) | 6773 | STAT2 | Uncertain significance | 763840968 | RCV002028369; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743220 | 56743220 | | | 56743220 | - | | |
NM_005419.4(STAT2):c.1326G>A (p.Leu442=) | 6773 | STAT2 | Benign | 529406351 | RCV000652757; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743225 | 56743225 | | | NC_000012.11:g.56743225C>T | ClinGen:CA6630557 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1320G>A (p.Gln440=) | 6773 | STAT2 | Uncertain significance | 1292108569 | RCV000809332; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743231 | 56743231 | | | 12:g.56743231C>T | - | | |
NM_005419.4(STAT2):c.1308A>G (p.Lys436=) | 6773 | STAT2 | Likely benign | -1 | RCV002881150; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743243 | 56743243 | | | | - | | |
NM_005419.4(STAT2):c.1302G>A (p.Thr434=) | 6773 | STAT2 | Likely benign | 766872480 | RCV002101329; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743249 | 56743249 | | | 56743249 | - | | |
NM_005419.4(STAT2):c.1301C>T (p.Thr434Met) | 6773 | STAT2 | Uncertain significance | 146115536 | RCV000652751; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743250 | 56743250 | | | NC_000012.11:g.56743250G>A | ClinGen:CA6630560 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1294A>G (p.Ser432Gly) | 6773 | STAT2 | Uncertain significance | 779466832 | RCV000695815; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743257 | 56743257 | | | 12:g.56743257T>C | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.1291A>C (p.Ile431Leu) | 6773 | STAT2 | Uncertain significance | 1210130386 | RCV001974174; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743260 | 56743260 | | | 56743260 | - | | |
NM_005419.4(STAT2):c.1263A>C (p.Pro421=) | 6773 | STAT2 | Likely benign | 140141365 | RCV000974767; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743288 | 56743288 | | | 12:g.56743288T>G | - | | |
NM_005419.4(STAT2):c.1261C>T (p.Pro421Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002974972; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743290 | 56743290 | | | NC_000012.11:g.56743290G>A | - | | |
NM_005419.4(STAT2):c.1258-3C>T | 6773 | STAT2 | Uncertain significance | 2136055847 | RCV001879684; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743296 | 56743296 | | | 56743296 | - | | |
NM_005419.4(STAT2):c.1258-4C>T | 6773 | STAT2 | Likely benign | 1360587836 | RCV001471169; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743297 | 56743297 | | | 12:g.56743297G>A | - | | |
NM_005419.4(STAT2):c.1258-12T>C | 6773 | STAT2 | Likely benign | 2136055926 | RCV002111484; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743305 | 56743305 | | | 56743305 | - | | |
NM_005419.4(STAT2):c.1258-19_1258-18del | 6773 | STAT2 | Likely benign | 1878106269 | RCV002152354; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743311 | 56743312 | | | 56743310 | - | | |
NM_005419.4(STAT2):c.1258-19A>G | 6773 | STAT2 | Likely benign | 372974784 | RCV002126293; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743312 | 56743312 | | | 56743312 | - | | |
NM_005419.4(STAT2):c.1257+16_1257+17del | 6773 | STAT2 | Likely benign | -1 | RCV003030518; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743356 | 56743357 | | | NC_000012.11:g.56743356CT[1] | - | | |
NM_005419.4(STAT2):c.1257+14del | 6773 | STAT2 | Likely benign | -1 | RCV002876559; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743359 | 56743359 | | | NC_000012.11:g.56743359del | - | | |
NM_005419.4(STAT2):c.1257+6A>G | 6773 | STAT2 | Benign | 2020854 | RCV001516223; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743367 | 56743367 | | | 56743367 | - | | |
NM_005419.4(STAT2):c.1257G>C (p.Lys419Asn) | 6773 | STAT2 | Uncertain significance | -1 | RCV002833849; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743373 | 56743373 | | | NC_000012.11:g.56743373C>G | - | | |
NM_005419.4(STAT2):c.1253A>G (p.Asn418Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV003073603; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743377 | 56743377 | | | NC_000012.11:g.56743377T>C | - | | |
NM_005419.4(STAT2):c.1249A>G (p.Ser417Gly) | 6773 | STAT2 | Uncertain significance | -1 | RCV002588178; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743381 | 56743381 | | | NC_000012.11:g.56743381T>C | - | | |
NM_005419.4(STAT2):c.1239A>G (p.Ser413=) | 6773 | STAT2 | Likely benign | 1592474545 | RCV001418458; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743391 | 56743391 | | | 12:g.56743391T>C | - | | |
NM_005419.4(STAT2):c.1226G>A (p.Arg409His) | 6773 | STAT2 | Uncertain significance | -1 | RCV002810160|RCV002810161; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56743404 | 56743404 | | | NC_000012.11:g.56743404C>T | - | | |
NM_005419.4(STAT2):c.1224A>G (p.Gln408=) | 6773 | STAT2 | Likely benign | 374293376 | RCV001471543; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743406 | 56743406 | | | 56743406 | - | | |
NM_005419.4(STAT2):c.1210-3C>T | 6773 | STAT2 | Uncertain significance | 111996676 | RCV001864995; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743423 | 56743423 | | | 56743423 | - | | |
NM_005419.4(STAT2):c.1209+1del | 6773 | STAT2 | Pathogenic | 1592475699 | RCV000821148; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743880 | 56743880 | | | 12:g.56743880_56743880del | - | | |
NM_005419.4(STAT2):c.1200T>C (p.Phe400=) | 6773 | STAT2 | Likely benign | 747925054 | RCV002158904; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743890 | 56743890 | | | 56743890 | - | | |
NM_005419.4(STAT2):c.1155T>G (p.Thr385=) | 6773 | STAT2 | Likely benign | 2136059059 | RCV002148765; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743935 | 56743935 | | | 56743935 | - | | |
NM_005419.4(STAT2):c.1116-10_1116-8del | 6773 | STAT2 | Likely benign | 1727191043 | RCV002175954; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743982 | 56743984 | | | 56743981 | - | | |
NM_005419.4(STAT2):c.1116-18A>C | 6773 | STAT2 | Likely benign | -1 | RCV002585366; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56743992 | 56743992 | | | NC_000012.11:g.56743992T>G | - | | |
NM_005419.4(STAT2):c.1115+13C>T | 6773 | STAT2 | Likely benign | 2136060343 | RCV001495181; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744183 | 56744183 | | | 56744183 | - | | |
NM_005419.4(STAT2):c.1115+8C>T | 6773 | STAT2 | Likely benign | -1 | RCV003000117; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744188 | 56744188 | | | NC_000012.11:g.56744188G>A | - | | |
NM_005419.4(STAT2):c.1111C>G (p.Gln371Glu) | 6773 | STAT2 | Likely benign | 142439434 | RCV000907041; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744200 | 56744200 | | | 12:g.56744200G>C | - | | |
NM_005419.4(STAT2):c.1110A>G (p.Leu370=) | 6773 | STAT2 | Likely benign | 138053074 | RCV002205002; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744201 | 56744201 | | | 56744201 | - | | |
NM_005419.4(STAT2):c.1107A>G (p.Gln369=) | 6773 | STAT2 | Likely benign | 766617497 | RCV001931316; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744204 | 56744204 | | | 56744204 | - | | |
NM_005419.4(STAT2):c.1102C>G (p.Pro368Ala) | 6773 | STAT2 | Uncertain significance | 757072598 | RCV001368326; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744209 | 56744209 | | | 56744209 | - | | |
NM_005419.4(STAT2):c.1095-8C>G | 6773 | STAT2 | Likely benign | 1394437712 | RCV001440453; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744224 | 56744224 | | | 12:g.56744224G>C | - | | |
NM_005419.4(STAT2):c.1095-13T>A | 6773 | STAT2 | Likely benign | 1306451333 | RCV002099743; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744229 | 56744229 | | | 56744229 | - | | |
NM_005419.4(STAT2):c.1095-19T>A | 6773 | STAT2 | Likely benign | 11575235 | RCV002196290; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744235 | 56744235 | | | 56744235 | - | | |
NM_005419.4(STAT2):c.1094+16T>G | 6773 | STAT2 | Likely benign | 2136062390 | RCV002104658; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744597 | 56744597 | | | 56744597 | - | | |
NM_005419.4(STAT2):c.1094+13A>C | 6773 | STAT2 | Likely benign | 2136062424 | RCV002149916; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744600 | 56744600 | | | 56744600 | - | | |
NM_005419.4(STAT2):c.1094+4A>C | 6773 | STAT2 | Uncertain significance | 1399043025 | RCV001934863; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744609 | 56744609 | | | 56744609 | - | | |
NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr) | 6773 | STAT2 | Uncertain significance | 771226498 | RCV000808355|RCV003166272; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123 | 12 | 56744619 | 56744619 | | | 12:g.56744619A>G | - | | |
NM_005419.4(STAT2):c.1081G>A (p.Val361Ile) | 6773 | STAT2 | Uncertain significance | 2136062522 | RCV001979978; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744626 | 56744626 | | | 56744626 | - | | |
NM_005419.4(STAT2):c.1077G>A (p.Val359=) | 6773 | STAT2 | Likely benign | 571320781 | RCV002149527; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744630 | 56744630 | | | 56744630 | - | | |
NM_005419.4(STAT2):c.1074T>A (p.Thr358=) | 6773 | STAT2 | Likely benign | -1 | RCV003024833; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744633 | 56744633 | | | | - | | |
NM_005419.4(STAT2):c.1062T>C (p.Asn354=) | 6773 | STAT2 | Likely benign | 375249113 | RCV000936326; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744645 | 56744645 | | | 12:g.56744645A>G | - | | |
NM_005419.4(STAT2):c.1061A>G (p.Asn354Ser) | 6773 | STAT2 | Uncertain significance | 1432107994 | RCV001059694; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744646 | 56744646 | | | 12:g.56744646T>C | - | | |
NM_005419.4(STAT2):c.1050C>T (p.Leu350=) | 6773 | STAT2 | Likely benign | -1 | RCV003040485; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744657 | 56744657 | | | | - | | |
NM_005419.4(STAT2):c.1042G>A (p.Val348Met) | 6773 | STAT2 | Uncertain significance | 763090413 | RCV001920620; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744665 | 56744665 | | | 56744665 | - | | |
NM_005419.4(STAT2):c.1038G>A (p.Leu346=) | 6773 | STAT2 | Likely benign | -1 | RCV003076202; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744669 | 56744669 | | | | - | | |
NM_005419.4(STAT2):c.1035-4C>T | 6773 | STAT2 | Likely benign | 751489313 | RCV001418418; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744676 | 56744676 | | | 12:g.56744676G>A | - | | |
NM_005419.4(STAT2):c.1035-5C>T | 6773 | STAT2 | Likely benign | -1 | RCV003034296; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744677 | 56744677 | | | NC_000012.11:g.56744677G>A | - | | |
NM_005419.4(STAT2):c.1035-6C>T | 6773 | STAT2 | Uncertain significance | -1 | RCV002847729; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744678 | 56744678 | | | NC_000012.11:g.56744678G>A | - | | |
NM_005419.4(STAT2):c.1035-16C>T | 6773 | STAT2 | Likely benign | -1 | RCV002741839; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744688 | 56744688 | | | NC_000012.11:g.56744688G>A | - | | |
NM_005419.4(STAT2):c.1034+10C>T | 6773 | STAT2 | Likely benign | 1475919038 | RCV002157541; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744872 | 56744872 | | | 56744872 | - | | |
NM_005419.4(STAT2):c.1032A>G (p.Thr344=) | 6773 | STAT2 | Likely benign | -1 | RCV003117040; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744884 | 56744884 | | | | - | | |
NM_005419.4(STAT2):c.1032A>C (p.Thr344=) | 6773 | STAT2 | Likely benign | -1 | RCV002922251; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744884 | 56744884 | | | | - | | |
NM_005419.4(STAT2):c.1028G>A (p.Arg343Gln) | 6773 | STAT2 | Uncertain significance | -1 | RCV003080989; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744888 | 56744888 | | | NC_000012.11:g.56744888C>T | - | | |
NM_005419.4(STAT2):c.1024G>A (p.Val342Ile) | 6773 | STAT2 | Uncertain significance | 139440046 | RCV001913309; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744892 | 56744892 | | | 56744892 | - | | |
NM_005419.4(STAT2):c.1023C>T (p.Thr341=) | 6773 | STAT2 | Likely benign | -1 | RCV003051100; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744893 | 56744893 | | | | - | | |
NM_005419.4(STAT2):c.989G>A (p.Arg330Gln) | 6773 | STAT2 | Uncertain significance | 149666262 | RCV000190677|RCV000791837; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744927 | 56744927 | | | NC_000012.11:g.56744927C>T | ClinGen:CA214609 | C0950123 Inborn genetic diseases; | |
NM_005419.4(STAT2):c.986A>T (p.His329Leu) | 6773 | STAT2 | Uncertain significance | -1 | RCV003032243; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744930 | 56744930 | | | NC_000012.11:g.56744930T>A | - | | |
NM_005419.4(STAT2):c.975C>T (p.Pro325=) | 6773 | STAT2 | Likely benign | 562801991 | RCV002155464; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744941 | 56744941 | | | 56744941 | - | | |
NM_005419.4(STAT2):c.970A>C (p.Met324Leu) | 6773 | STAT2 | Uncertain significance | 1259353788 | RCV001337235; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744946 | 56744946 | | | 56744946 | - | | |
NM_005419.4(STAT2):c.944C>G (p.Ala315Gly) | 6773 | STAT2 | Uncertain significance | 774550841 | RCV002015702; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744972 | 56744972 | | | 56744972 | - | | |
NM_005419.4(STAT2):c.942-8C>A | 6773 | STAT2 | Likely benign | -1 | RCV002572143; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744982 | 56744982 | | | NC_000012.11:g.56744982G>T | - | | |
NM_005419.4(STAT2):c.942-14C>G | 6773 | STAT2 | Likely benign | 111278603 | RCV002206555; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56744988 | 56744988 | | | 56744988 | - | | |
NM_005419.4(STAT2):c.929G>A (p.Arg310His) | 6773 | STAT2 | Uncertain significance | 374561860 | RCV001989408; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745088 | 56745088 | | | 56745088 | - | | |
NM_005419.4(STAT2):c.904G>A (p.Ala302Thr) | 6773 | STAT2 | Uncertain significance | 141205552 | RCV001066159; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745113 | 56745113 | | | 12:g.56745113C>T | - | | |
NM_005419.4(STAT2):c.903C>T (p.Asn301=) | 6773 | STAT2 | Conflicting interpretations of pathogenicity | 145152331 | RCV000652753; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745114 | 56745114 | | | NC_000012.11:g.56745114G>A | ClinGen:CA6630734 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.899G>A (p.Arg300His) | 6773 | STAT2 | Uncertain significance | -1 | RCV003033686; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745118 | 56745118 | | | NC_000012.11:g.56745118C>T | - | | |
NM_005419.4(STAT2):c.898C>T (p.Arg300Cys) | 6773 | STAT2 | Uncertain significance | -1 | RCV002638169; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745119 | 56745119 | | | NC_000012.11:g.56745119G>A | - | | |
NM_005419.4(STAT2):c.897A>T (p.Leu299=) | 6773 | STAT2 | Likely benign | 367900179 | RCV001439890; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745120 | 56745120 | | | 12:g.56745120T>A | - | | |
NM_005419.4(STAT2):c.883A>G (p.Lys295Glu) | 6773 | STAT2 | Uncertain significance | -1 | RCV002810603; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745134 | 56745134 | | | NC_000012.11:g.56745134T>C | - | | |
NM_005419.4(STAT2):c.874C>G (p.Pro292Ala) | 6773 | STAT2 | Uncertain significance | 754287605 | RCV001342850; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745143 | 56745143 | | | 56745143 | - | | |
NM_005419.4(STAT2):c.830A>G (p.Lys277Arg) | 6773 | STAT2 | Uncertain significance | 910154908 | RCV002003661; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745187 | 56745187 | | | 56745187 | - | | |
NM_005419.4(STAT2):c.820C>T (p.Gln274Ter) | 6773 | STAT2 | Pathogenic | 1878457865 | RCV001330058; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745197 | 56745197 | | | 56745197 | - | | |
NM_005419.4(STAT2):c.816G>C (p.Leu272=) | 6773 | STAT2 | Likely benign | 1040911171 | RCV001480699; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745201 | 56745201 | | | 56745201 | - | | |
NM_005419.4(STAT2):c.800A>G (p.Lys267Arg) | 6773 | STAT2 | Uncertain significance | -1 | RCV003095719; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745217 | 56745217 | | | NC_000012.11:g.56745217T>C | - | | |
NM_005419.4(STAT2):c.788C>T (p.Thr263Ile) | 6773 | STAT2 | Uncertain significance | 1878461729 | RCV001304261; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745229 | 56745229 | | | 56745229 | - | | |
NM_005419.4(STAT2):c.783-17T>C | 6773 | STAT2 | Likely benign | 897923302 | RCV002101147; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56745251 | 56745251 | | | 56745251 | - | | |
NM_005419.4(STAT2):c.782+9T>C | 6773 | STAT2 | Likely benign | 1366805794 | RCV001483352; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748241 | 56748241 | | | 56748241 | - | | |
NM_005419.4(STAT2):c.782+7G>C | 6773 | STAT2 | Likely benign | 200837081 | RCV002102581; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748243 | 56748243 | | | 56748243 | - | | |
NM_005419.4(STAT2):c.782+3G>A | 6773 | STAT2 | Uncertain significance | -1 | RCV003084267; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748247 | 56748247 | | | NC_000012.11:g.56748247C>T | - | | |
NM_005419.4(STAT2):c.780A>G (p.Thr260=) | 6773 | STAT2 | Likely benign | 2136082939 | RCV002149878; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748252 | 56748252 | | | 56748252 | - | | |
NM_005419.4(STAT2):c.772C>T (p.Leu258=) | 6773 | STAT2 | Likely benign | 749010133 | RCV000938496; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748260 | 56748260 | | | 12:g.56748260G>A | - | | |
NM_005419.4(STAT2):c.763T>C (p.Leu255=) | 6773 | STAT2 | Likely benign | -1 | RCV002696024; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748269 | 56748269 | | | | - | | |
NM_005419.4(STAT2):c.761G>A (p.Gly254Glu) | 6773 | STAT2 | Uncertain significance | 1482708314 | RCV001863907; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748271 | 56748271 | | | 56748271 | - | | |
NM_005419.4(STAT2):c.760G>A (p.Gly254Arg) | 6773 | STAT2 | Uncertain significance | 774007338 | RCV002043911; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748272 | 56748272 | | | 56748272 | - | | |
NM_005419.4(STAT2):c.759C>T (p.His253=) | 6773 | STAT2 | Benign/Likely benign | 147605088 | RCV000454686|RCV000652754|RCV001702660; | N | MedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900 | 12 | 56748273 | 56748273 | | | 12:g.56748273G>A | ClinGen:CA6630771 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.757C>G (p.His253Asp) | 6773 | STAT2 | Uncertain significance | 767067626 | RCV001999377; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748275 | 56748275 | | | 56748275 | - | | |
NM_005419.4(STAT2):c.737G>C (p.Cys246Ser) | 6773 | STAT2 | Uncertain significance | 2228259 | RCV001059695; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748295 | 56748295 | | | 12:g.56748295C>G | - | | |
NM_005419.4(STAT2):c.728A>T (p.Gln243Leu) | 6773 | STAT2 | Uncertain significance | -1 | RCV002843034; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748304 | 56748304 | | | NC_000012.11:g.56748304T>A | - | | |
NM_005419.4(STAT2):c.724C>G (p.Gln242Glu) | 6773 | STAT2 | Uncertain significance | 758745819 | RCV001214005; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748308 | 56748308 | | | 12:g.56748308G>C | - | | |
NM_005419.4(STAT2):c.723G>A (p.Gln241=) | 6773 | STAT2 | Likely benign | -1 | RCV003043635; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748309 | 56748309 | | | | - | | |
NM_005419.4(STAT2):c.711G>C (p.Glu237Asp) | 6773 | STAT2 | Uncertain significance | -1 | RCV002829498; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748321 | 56748321 | | | NC_000012.11:g.56748321C>G | - | | |
NM_005419.4(STAT2):c.704T>C (p.Leu235Ser) | 6773 | STAT2 | Uncertain significance | 1324949275 | RCV001890206; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748328 | 56748328 | | | 56748328 | - | | |
NM_005419.4(STAT2):c.694C>A (p.Leu232Met) | 6773 | STAT2 | Uncertain significance | 143159503 | RCV000818829; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748338 | 56748338 | | | 12:g.56748338G>T | - | | |
NM_005419.4(STAT2):c.685G>A (p.Glu229Lys) | 6773 | STAT2 | Uncertain significance | 200581403 | RCV001943161; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748347 | 56748347 | | | 56748347 | - | | |
NM_005419.4(STAT2):c.679C>G (p.Leu227Val) | 6773 | STAT2 | Uncertain significance | -1 | RCV003049030; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748353 | 56748353 | | | NC_000012.11:g.56748353G>C | - | | |
NM_005419.4(STAT2):c.676dup (p.Thr226fs) | 6773 | STAT2 | Pathogenic | 2136083409 | RCV001864935; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748355 | 56748356 | | | 56748355 | - | | |
NM_005419.4(STAT2):c.668G>A (p.Arg223Gln) | 6773 | STAT2 | Uncertain significance | -1 | RCV002646841; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748364 | 56748364 | | | NC_000012.11:g.56748364C>T | - | | |
NM_005419.4(STAT2):c.667C>T (p.Arg223Ter) | 6773 | STAT2 | Pathogenic | 1216776022 | RCV002035244; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748365 | 56748365 | | | 56748365 | - | | |
NM_005419.4(STAT2):c.656C>T (p.Ala219Val) | 6773 | STAT2 | Uncertain significance | 1193099859 | RCV001932857; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748376 | 56748376 | | | 56748376 | - | | |
NM_005419.4(STAT2):c.655G>A (p.Ala219Thr) | 6773 | STAT2 | Uncertain significance | 2136083569 | RCV001894576; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748377 | 56748377 | | | 56748377 | - | | |
NM_005419.4(STAT2):c.651C>T (p.Ser217=) | 6773 | STAT2 | Likely benign | 143531890 | RCV002107473; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748381 | 56748381 | | | 56748381 | - | | |
NM_005419.4(STAT2):c.642G>A (p.Leu214=) | 6773 | STAT2 | Likely benign | 373162091 | RCV002140428; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748390 | 56748390 | | | 56748390 | - | | |
NM_005419.4(STAT2):c.634-3dup | 6773 | STAT2 | Uncertain significance | 781118479 | RCV001947865; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748400 | 56748401 | | | 56748400 | - | | |
NM_005419.4(STAT2):c.634-16A>G | 6773 | STAT2 | Likely benign | -1 | RCV002847421; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748414 | 56748414 | | | NC_000012.11:g.56748414T>C | - | | |
NM_005419.4(STAT2):c.633+11G>A | 6773 | STAT2 | Likely benign | 777522947 | RCV002100960; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748551 | 56748551 | | | 56748551 | - | | |
NM_005419.4(STAT2):c.633+8A>C | 6773 | STAT2 | Likely benign | 2136084384 | RCV002207621; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748554 | 56748554 | | | 56748554 | - | | |
NM_005419.4(STAT2):c.633+7G>A | 6773 | STAT2 | Likely benign | -1 | RCV002932459; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748555 | 56748555 | | | NC_000012.11:g.56748555C>T | - | | |
NM_005419.4(STAT2):c.633+6A>C | 6773 | STAT2 | Uncertain significance | 1397725346 | RCV001294273; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748556 | 56748556 | | | 56748556 | - | | |
NM_005419.4(STAT2):c.633G>A (p.Lys211=) | 6773 | STAT2 | Uncertain significance | 2136084436 | RCV001911093; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748562 | 56748562 | | | 56748562 | - | | |
NM_005419.4(STAT2):c.597G>T (p.Leu199=) | 6773 | STAT2 | Likely benign | -1 | RCV002862923; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748598 | 56748598 | | | | - | | |
NM_005419.4(STAT2):c.591G>A (p.Lys197=) | 6773 | STAT2 | Likely benign | -1 | RCV002572287; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748604 | 56748604 | | | | - | | |
NM_005419.4(STAT2):c.574C>G (p.Gln192Glu) | 6773 | STAT2 | Uncertain significance | 1254058764 | RCV001910954; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748621 | 56748621 | | | 56748621 | - | | |
NM_005419.4(STAT2):c.567C>A (p.Asp189Glu) | 6773 | STAT2 | Uncertain significance | 1879265080 | RCV001352223; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748628 | 56748628 | | | 56748628 | - | | |
NM_005419.4(STAT2):c.556C>T (p.Pro186Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002571759; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748639 | 56748639 | | | NC_000012.11:g.56748639G>A | - | | |
NM_005419.4(STAT2):c.548-10C>T | 6773 | STAT2 | Likely benign | 199708754 | RCV002066160; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748657 | 56748657 | | | 12:g.56748657G>A | - | | |
NM_005419.4(STAT2):c.548-15G>A | 6773 | STAT2 | Likely benign | 201328797 | RCV002184572; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748662 | 56748662 | | | 56748662 | - | | |
NM_005419.4(STAT2):c.548-26GACT[3] | 6773 | STAT2 | Likely benign | -1 | RCV002839226; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748665 | 56748666 | | | NC_000012.11:g.56748666AGTC[3] | - | | |
NM_005419.4(STAT2):c.548-19T>C | 6773 | STAT2 | Likely benign | 2136084854 | RCV002076339; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56748666 | 56748666 | | | 56748666 | - | | |
NM_005419.4(STAT2):c.547+20G>A | 6773 | STAT2 | Likely benign | -1 | RCV003013362; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749040 | 56749040 | | | NC_000012.11:g.56749040C>T | - | | |
NM_005419.4(STAT2):c.547+14dup | 6773 | STAT2 | Likely benign | 2136086379 | RCV002169068; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749045 | 56749046 | | | 56749045 | - | | |
NM_005419.4(STAT2):c.547+13T>C | 6773 | STAT2 | Likely benign | -1 | RCV003083778; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749047 | 56749047 | | | NC_000012.11:g.56749047A>G | - | | |
NM_005419.4(STAT2):c.542C>T (p.Ala181Val) | 6773 | STAT2 | Uncertain significance | -1 | RCV003079358; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749065 | 56749065 | | | NC_000012.11:g.56749065G>A | - | | |
NM_005419.4(STAT2):c.538C>G (p.Gln180Glu) | 6773 | STAT2 | Uncertain significance | 1592489044 | RCV000807124; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749069 | 56749069 | | | 12:g.56749069G>C | - | | |
NM_005419.4(STAT2):c.514G>A (p.Val172Ile) | 6773 | STAT2 | Uncertain significance | -1 | RCV002640721; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749093 | 56749093 | | | NC_000012.11:g.56749093C>T | - | | |
NM_005419.4(STAT2):c.510G>A (p.Gln170=) | 6773 | STAT2 | Likely benign | 1879335566 | RCV001444539; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749097 | 56749097 | | | 56749097 | - | | |
NM_005419.4(STAT2):c.487A>G (p.Ile163Val) | 6773 | STAT2 | Uncertain significance | -1 | RCV002889470; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749120 | 56749120 | | | NC_000012.11:g.56749120T>C | - | | |
NM_005419.4(STAT2):c.472-8C>A | 6773 | STAT2 | Likely benign | 760728164 | RCV002220667; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749143 | 56749143 | | | 56749143 | - | | |
NM_005419.4(STAT2):c.472-18G>T | 6773 | STAT2 | Likely benign | 55744449 | RCV002128388; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749153 | 56749153 | | | 56749153 | - | | |
NM_005419.4(STAT2):c.472-18G>A | 6773 | STAT2 | Benign | -1 | RCV002994094; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749153 | 56749153 | | | NC_000012.11:g.56749153C>T | - | | |
NM_005419.4(STAT2):c.463A>G (p.Met155Val) | 6773 | STAT2 | Uncertain significance | -1 | RCV002571638; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749235 | 56749235 | | | NC_000012.11:g.56749235T>C | - | | |
NM_005419.4(STAT2):c.443G>A (p.Arg148Gln) | 6773 | STAT2 | Uncertain significance | 1879360038 | RCV001156646|RCV002032445; | N | MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749255 | 56749255 | | | 12:g.56749255C>T | OMIM:600556.0004 | | |
NM_005419.4(STAT2):c.434T>C (p.Ile145Thr) | 6773 | STAT2 | Uncertain significance | -1 | RCV003068549; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749264 | 56749264 | | | NC_000012.11:g.56749264A>G | - | | |
NM_005419.4(STAT2):c.429T>A (p.His143Gln) | 6773 | STAT2 | Uncertain significance | 372975661 | RCV001223533; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749269 | 56749269 | | | 12:g.56749269A>T | - | | |
NM_005419.4(STAT2):c.427C>A (p.His143Asn) | 6773 | STAT2 | Uncertain significance | 2136087270 | RCV002046686; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749271 | 56749271 | | | 56749271 | - | | |
NM_005419.4(STAT2):c.418A>G (p.Ser140Gly) | 6773 | STAT2 | Uncertain significance | 758869093 | RCV001210593; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749280 | 56749280 | | | 12:g.56749280T>C | - | | |
NM_005419.4(STAT2):c.409C>G (p.Pro137Ala) | 6773 | STAT2 | Uncertain significance | 2136087361 | RCV001924295; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749289 | 56749289 | | | 56749289 | - | | |
NM_005419.4(STAT2):c.403G>A (p.Glu135Lys) | 6773 | STAT2 | Uncertain significance | 753806117 | RCV001230385; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749295 | 56749295 | | | 12:g.56749295C>T | - | | |
NM_005419.4(STAT2):c.403G>T (p.Glu135Ter) | 6773 | STAT2 | Pathogenic | -1 | RCV002616437; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749295 | 56749295 | | | NC_000012.11:g.56749295C>A | - | | |
NM_005419.4(STAT2):c.402C>T (p.Leu134=) | 6773 | STAT2 | Likely benign | 148272090 | RCV001421136; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749296 | 56749296 | | | 56749296 | - | | |
NM_005419.4(STAT2):c.400C>T (p.Leu134Phe) | 6773 | STAT2 | Uncertain significance | 1264238680 | RCV000537418; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749298 | 56749298 | | | 12:g.56749298G>A | ClinGen:CA385263403 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.382-9dup | 6773 | STAT2 | Conflicting interpretations of pathogenicity | 774277532 | RCV000514180|RCV002528234; | N | MedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749319 | 56749320 | | | 12:g.56749319_56749320insA | ClinGen:CA6630879 | CN517202 not provided; | |
NM_005419.4(STAT2):c.382-8T>G | 6773 | STAT2 | Uncertain significance | -1 | RCV003029219; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749324 | 56749324 | | | NC_000012.11:g.56749324A>C | - | | |
NM_005419.4(STAT2):c.382-10C>T | 6773 | STAT2 | Likely benign | -1 | RCV003051101; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749326 | 56749326 | | | NC_000012.11:g.56749326G>A | - | | |
NM_005419.4(STAT2):c.382-14G>A | 6773 | STAT2 | Likely benign | 775683524 | RCV001489122; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749330 | 56749330 | | | 56749330 | - | | |
NM_005419.4(STAT2):c.381+5G>C | 6773 | STAT2 | Pathogenic | 281874770 | RCV000202375; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749487 | 56749487 | | | NC_000012.11:g.56749487C>G | ClinGen:CA214658,OMIM:600556.0001 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.381+3G>A | 6773 | STAT2 | Uncertain significance | 1879403720 | RCV001318374; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749489 | 56749489 | | | 56749489 | - | | |
NM_005419.4(STAT2):c.379T>C (p.Leu127=) | 6773 | STAT2 | Benign | 2066812 | RCV000527071; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749494 | 56749494 | | | 12:g.56749494A>G | ClinGen:CA6630893 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.378A>G (p.Gln126=) | 6773 | STAT2 | Likely benign | 112826194 | RCV000944146; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749495 | 56749495 | | | 12:g.56749495T>C | - | | |
NM_005419.4(STAT2):c.340G>A (p.Glu114Lys) | 6773 | STAT2 | Uncertain significance | 1592490011 | RCV001049114; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749533 | 56749533 | | | 12:g.56749533C>T | - | | |
NM_005419.4(STAT2):c.331C>T (p.Leu111Phe) | 6773 | STAT2 | Uncertain significance | 199890161 | RCV000698784; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749542 | 56749542 | | | 12:g.56749542G>A | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.301C>T (p.Pro101Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002899611; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749572 | 56749572 | | | NC_000012.11:g.56749572G>A | - | | |
NM_005419.4(STAT2):c.297G>C (p.Gln99His) | 6773 | STAT2 | Uncertain significance | 367793690 | RCV001233807; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749576 | 56749576 | | | 12:g.56749576C>G | - | | |
NM_005419.4(STAT2):c.293C>T (p.Ser98Phe) | 6773 | STAT2 | Uncertain significance | 1294214696 | RCV002006939; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749580 | 56749580 | | | 56749580 | - | | |
NM_005419.4(STAT2):c.291T>C (p.Phe97=) | 6773 | STAT2 | Likely benign | 771953116 | RCV001438275; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749582 | 56749582 | | | 56749582 | - | | |
NM_005419.4(STAT2):c.286-5T>C | 6773 | STAT2 | Likely benign | 111889584 | RCV000975308; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749592 | 56749592 | | | 12:g.56749592A>G | - | | |
NM_005419.4(STAT2):c.285+13G>A | 6773 | STAT2 | Likely benign | 376180998 | RCV002188029; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749903 | 56749903 | | | 56749903 | - | | |
NM_005419.4(STAT2):c.285+11C>A | 6773 | STAT2 | Benign | 138679917 | RCV002119075; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749905 | 56749905 | | | 56749905 | - | | |
NM_005419.4(STAT2):c.285+11C>T | 6773 | STAT2 | Likely benign | -1 | RCV003081349; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749905 | 56749905 | | | NC_000012.11:g.56749905G>A | - | | |
NM_005419.4(STAT2):c.285+5T>C | 6773 | STAT2 | Likely benign | 79264292 | RCV000652758|RCV001703227; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900 | 12 | 56749911 | 56749911 | | | NC_000012.11:g.56749911A>G | ClinGen:CA6630920 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.281T>C (p.Ile94Thr) | 6773 | STAT2 | Uncertain significance | -1 | RCV003049157; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749920 | 56749920 | | | NC_000012.11:g.56749920A>G | - | | |
NM_005419.4(STAT2):c.275G>A (p.Arg92Gln) | 6773 | STAT2 | Likely benign | 146096134 | RCV001366926; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749926 | 56749926 | | | 56749926 | - | | |
NM_005419.4(STAT2):c.274C>T (p.Arg92Trp) | 6773 | STAT2 | Uncertain significance | 746815427 | RCV001257209; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749927 | 56749927 | | | 12:g.56749927G>A | - | | |
NM_005419.4(STAT2):c.270C>T (p.Phe90=) | 6773 | STAT2 | Likely benign | 1879479943 | RCV002195229; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749931 | 56749931 | | | 56749931 | - | | |
NM_005419.4(STAT2):c.269T>C (p.Phe90Ser) | 6773 | STAT2 | Uncertain significance | 189335310 | RCV002009414; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749932 | 56749932 | | | 56749932 | - | | |
NM_005419.4(STAT2):c.261G>C (p.Leu87Phe) | 6773 | STAT2 | Uncertain significance | -1 | RCV002297535; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749940 | 56749940 | | | 56749940 | - | | |
NM_005419.4(STAT2):c.256A>T (p.Asn86Tyr) | 6773 | STAT2 | Uncertain significance | -1 | RCV002927561; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749945 | 56749945 | | | NC_000012.11:g.56749945T>A | - | | |
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys) | 6773 | STAT2 | Uncertain significance | 150901100 | RCV000788163|RCV000802910|RCV003117577; | N | MedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166| | 12 | 56749951 | 56749951 | | | 12:g.56749951G>T | - | | |
NM_005419.4(STAT2):c.235G>C (p.Glu79Gln) | 6773 | STAT2 | Uncertain significance | -1 | RCV003104208; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749966 | 56749966 | | | NC_000012.11:g.56749966C>G | - | | |
NM_005419.4(STAT2):c.218G>A (p.Arg73His) | 6773 | STAT2 | Uncertain significance | -1 | RCV003084572; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749983 | 56749983 | | | NC_000012.11:g.56749983C>T | - | | |
NM_005419.4(STAT2):c.217C>T (p.Arg73Cys) | 6773 | STAT2 | Uncertain significance | -1 | RCV002582051; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56749984 | 56749984 | | | NC_000012.11:g.56749984G>A | - | | |
NM_005419.4(STAT2):c.165G>A (p.Lys55=) | 6773 | STAT2 | Benign | 199622368 | RCV000544491; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750036 | 56750036 | | | 12:g.56750036C>T | ClinGen:CA6630935 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.144A>T (p.Ala48=) | 6773 | STAT2 | Likely benign | 748197364 | RCV002207033; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750057 | 56750057 | | | 56750057 | - | | |
NM_005419.4(STAT2):c.135G>T (p.Gln45His) | 6773 | STAT2 | Uncertain significance | 1879498369 | RCV001247040; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750066 | 56750066 | | | 12:g.56750066C>A | - | | |
NM_005419.4(STAT2):c.132-7T>C | 6773 | STAT2 | Likely benign | 200338496 | RCV002192255; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750076 | 56750076 | | | 56750076 | - | | |
NM_005419.4(STAT2):c.132-14T>C | 6773 | STAT2 | Likely benign | -1 | RCV002761661; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750083 | 56750083 | | | NC_000012.11:g.56750083A>G | - | | |
NM_005419.4(STAT2):c.131+18T>C | 6773 | STAT2 | Likely benign | -1 | RCV002970837; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750207 | 56750207 | | | NC_000012.11:g.56750207A>G | - | | |
NM_005419.4(STAT2):c.131+12A>G | 6773 | STAT2 | Likely benign | 377183152 | RCV002146992; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750213 | 56750213 | | | 56750213 | - | | |
NM_005419.4(STAT2):c.131+1G>A | 6773 | STAT2 | Likely pathogenic | -1 | RCV003033880; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750224 | 56750224 | | | NC_000012.11:g.56750224C>T | - | | |
NM_005419.4(STAT2):c.124C>A (p.Gln42Lys) | 6773 | STAT2 | Uncertain significance | 1258502384 | RCV001220034; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750232 | 56750232 | | | 12:g.56750232G>T | - | | |
NM_005419.4(STAT2):c.124C>T (p.Gln42Ter) | 6773 | STAT2 | Pathogenic | 1258502384 | RCV001993355; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750232 | 56750232 | | | 56750232 | - | | |
NM_005419.4(STAT2):c.116T>C (p.Ile39Thr) | 6773 | STAT2 | Uncertain significance | 757152982 | RCV000545981; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750240 | 56750240 | | | NC_000012.11:g.56750240A>G | ClinGen:CA6630958 | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.116T>G (p.Ile39Ser) | 6773 | STAT2 | Uncertain significance | -1 | RCV002927633; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750240 | 56750240 | | | NC_000012.11:g.56750240A>C | - | | |
NM_005419.4(STAT2):c.109G>T (p.Val37Phe) | 6773 | STAT2 | Uncertain significance | 144812882 | RCV000690233; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750247 | 56750247 | | | NC_000012.11:g.56750247C>A | - | C4225260 616636 Immunodeficiency 44; | |
NM_005419.4(STAT2):c.109G>C (p.Val37Leu) | 6773 | STAT2 | Uncertain significance | 144812882 | RCV001986113; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750247 | 56750247 | | | 56750247 | - | | |
NM_005419.4(STAT2):c.106G>A (p.Ala36Thr) | 6773 | STAT2 | Uncertain significance | 1879530120 | RCV001208734; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750250 | 56750250 | | | 12:g.56750250C>T | - | | |
NM_005419.4(STAT2):c.72C>T (p.His24=) | 6773 | STAT2 | Likely benign | 201190254 | RCV001405590; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750284 | 56750284 | | | 56750284 | - | | |
NM_005419.4(STAT2):c.69G>A (p.Ser23=) | 6773 | STAT2 | Likely benign | 768335426 | RCV002086589; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750287 | 56750287 | | | 56750287 | - | | |
NM_005419.4(STAT2):c.47A>G (p.Asp16Gly) | 6773 | STAT2 | Uncertain significance | 761370532 | RCV001070160; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750309 | 56750309 | | | 12:g.56750309T>C | - | | |
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly) | 6773 | STAT2 | Uncertain significance | 1565660719 | RCV000768098|RCV002533935|RCV003224426; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886; MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750322 | 56750322 | | | NC_000012.11:g.56750322T>C | - | | |
NM_005419.4(STAT2):c.6G>A (p.Ala2=) | 6773 | STAT2 | Likely benign | 540438595 | RCV001459992; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750350 | 56750350 | | | 56750350 | - | | |
NM_005419.4(STAT2):c.5C>T (p.Ala2Val) | 6773 | STAT2 | Uncertain significance | -1 | RCV003005800; | N | MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166 | 12 | 56750351 | 56750351 | | | NC_000012.11:g.56750351G>A | - | | |