MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Severe Combined Immunodeficiency (D016511)
..Starting node ..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative (C563440)
Child Nodes:
Sister Nodes:
..Athabaskan severe combined immunodeficiency (C536786)
..Bare lymphocyte syndrome 2 (C537079)
..Bare Lymphocyte Syndrome, Type I (C565759)
..Bare Lymphocyte Syndrome, Type II, Complementation Group A (C565910)
..Combined Cellular And Humoral Immune Defects With Granulomas (C567115)
..HLA class 1 deficiency (C538465)
..Immune dysfunction with T-cell inactivation due to calcium entry defect 1 (C557826)
..Immune dysfunction with T-cell inactivation due to calcium entry defect 2 (C557827)
..IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..Reticular dysgenesis (C538361) L: 00119;
..Reticuloendotheliosis, familial, with eosinophilia (C538564)
..Reticuloendotheliosis, X-linked (C538362)
..Severe combined immunodeficiency due to adenosine deaminase deficiency (C531816)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Severe combined immunodeficiency with sensitivity to ionizing radiation (C537589)
..Severe combined immunodeficiency, atypical (C537590)
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (C563822)
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative (C563440)
..Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984)
..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..ZAP70 deficiency (C536722)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11154

Name:

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative

Definition:

Alternative IDs:

OMIM:600802

ParentIDs:

MESH:D016511

TreeNumbers:

C16.614.815/C563440 |C18.452.284.800/C563440 |C20.673.815/C563440

Synonyms:

SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative

Slim Mappings:

Immune system disease|Infant-newborn disease|Metabolic disease

Reference:

MedGen: C563440
MeSH: C563440
OMIM: 600802;
MSeqDR :
Genes: JAK3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002733	Abnormality of the lymph nodes
3	HP:0002965	Cutaneous anergy
4	HP:0002014	Diarrhea
5	HP:0001508	Failure to thrive
6	HP:0005214	Intestinal obstruction
7	HP:0001287	Meningitis
8	HP:0003139	Panhypogammaglobulinemia
9	HP:0002090	Pneumonia
10	HP:0002788	Recurrent upper respiratory tract infections
11	HP:0004430	Severe combined immunodeficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000019.9:g.(?_17927663)_(17983505_?)dup	3718	JAK3	Uncertain significance	-1	RCV001913524;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17927663	17983505	-1	-
NM_000215.4(JAK3):c.*1926A>G	3718	JAK3	Benign	11888	RCV000278899;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935626	17935626	NC_000019.9:g.17935626T>C	ClinGen:CA10642413	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1835G>A	3718	JAK3	Uncertain significance	990232897	RCV001122463;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935717	17935717	19:g.17935717C>T	-
NM_000215.4(JAK3):c.*1833G>A	3718	JAK3	Uncertain significance	546293977	RCV001122464;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935719	17935719	19:g.17935719C>T	-
NM_000215.4(JAK3):c.*1787C>A	3718	JAK3	Uncertain significance	569854764	RCV000338519;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935765	17935765	NC_000019.9:g.17935765G>T	ClinGen:CA10648378	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1778A>G	3718	JAK3	Uncertain significance	886054266	RCV000396141;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935774	17935774	NC_000019.9:g.17935774T>C	ClinGen:CA10652310	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1761T>A	3718	JAK3	Likely benign	188773566	RCV001125245;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935791	17935791	19:g.17935791A>T	-
NM_000215.4(JAK3):c.*1752A>G	3718	JAK3	Uncertain significance	886054267	RCV000284847;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935800	17935800	NC_000019.9:g.17935800T>C	ClinGen:CA10651602	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1661T>G	3718	JAK3	Uncertain significance	1406329008	RCV001125246;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17935891	17935891	19:g.17935891A>C	-
NM_000215.4(JAK3):c.*1548C>T	3718	JAK3	Likely benign	191522931	RCV000339808;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936004	17936004	NC_000019.9:g.17936004G>A	ClinGen:CA10651605	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1531T>C	3718	JAK3	Uncertain significance	886054268	RCV000401421;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936021	17936021	NC_000019.9:g.17936021A>G	ClinGen:CA10651606	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1523C>T	3718	JAK3	Uncertain significance	145985086	RCV000304919;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936029	17936029	NC_000019.9:g.17936029G>A	ClinGen:CA10652311	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1522C>T	3718	JAK3	Uncertain significance	1449106505	RCV001125247;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936030	17936030	19:g.17936030G>A	-
NM_000215.4(JAK3):c.*1509G>T	3718	JAK3	Uncertain significance	750558618	RCV001125248;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936043	17936043	19:g.17936043C>A	-
NM_000215.4(JAK3):c.*1422G>A	3718	JAK3	Benign	79972191	RCV000345773;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936130	17936130	NC_000019.9:g.17936130C>T	ClinGen:CA10648379	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1398G>C	3718	JAK3	Uncertain significance	2094202113	RCV001126216;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936154	17936154	19:g.17936154C>G	-
NM_000215.4(JAK3):c.*1319G>A	3718	JAK3	Benign	118101939	RCV001126217;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936233	17936233	19:g.17936233C>T	-
NM_000215.4(JAK3):c.*1293C>T	3718	JAK3	Benign	73014967	RCV000309786;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936259	17936259	NC_000019.9:g.17936259G>A	ClinGen:CA10652312	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1287A>T	3718	JAK3	Uncertain significance	771793558	RCV000364440;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936265	17936265	NC_000019.9:g.17936265T>A	ClinGen:CA10648380	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1264G>C	3718	JAK3	Uncertain significance	552602675	RCV001126218;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936288	17936288	19:g.17936288C>G	-
NM_000215.4(JAK3):c.*1218C>A	3718	JAK3	Uncertain significance	886054270	RCV000275613;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936334	17936334	NC_000019.9:g.17936334G>T	ClinGen:CA10648381	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1197G>A	3718	JAK3	Likely benign	3213415	RCV000312042;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936355	17936355	NC_000019.9:g.17936355C>T	ClinGen:CA10652313	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1094G>C	3718	JAK3	Uncertain significance	886054271	RCV000371243;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936458	17936458	19:g.17936458C>G	ClinGen:CA10652314	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1038A>G	3718	JAK3	Benign	373917722	RCV000276796;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936514	17936514	19:g.17936514T>C	ClinGen:CA10642418	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*1014C>T	3718	JAK3	Uncertain significance	560529368	RCV000317689;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936538	17936538	19:g.17936538G>A	ClinGen:CA10652315	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*985C>T	3718	JAK3	Uncertain significance	886054272	RCV000372290;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936567	17936567	19:g.17936567G>A	ClinGen:CA10648385	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*974G>A	3718	JAK3	Uncertain significance	543679158	RCV000263714;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936578	17936578	19:g.17936578C>T	ClinGen:CA10648386	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*943G>C	3718	JAK3	Uncertain significance	370189146	RCV001128273;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936609	17936609	19:g.17936609C>G	-
NM_000215.4(JAK3):c.*937G>A	3718	JAK3	Likely benign	3212803	RCV000318925;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936615	17936615	19:g.17936615C>T	ClinGen:CA10642419	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*899A>G	3718	JAK3	Uncertain significance	2094202959	RCV001128274;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936653	17936653	19:g.17936653T>C	-
NM_000215.4(JAK3):c.*847C>T	3718	JAK3	Uncertain significance	886054273	RCV000377969;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936705	17936705	19:g.17936705G>A	ClinGen:CA10642420	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*771C>T	3718	JAK3	Uncertain significance	923086181	RCV001122560;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936781	17936781	19:g.17936781G>A	-
NM_000215.4(JAK3):c.*654A>T	3718	JAK3	Benign	71332114	RCV000343033;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936898	17936898	19:g.17936898T>A	ClinGen:CA10651607	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*653T>A	3718	JAK3	Uncertain significance	886054274	RCV000378961;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936899	17936899	19:g.17936899A>T	ClinGen:CA10648388	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*607G>A	3718	JAK3	Uncertain significance	1364267735	RCV001122561;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936945	17936945	19:g.17936945C>T	-
NM_000215.4(JAK3):c.*593C>T	3718	JAK3	Uncertain significance	886054275	RCV000289414;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17936959	17936959	19:g.17936959G>A	ClinGen:CA10648393	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*507A>T	3718	JAK3	Uncertain significance	572139474	RCV001122562;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937045	17937045	19:g.17937045T>A	-
NM_000215.4(JAK3):c.*503G>A	3718	JAK3	Uncertain significance	201036874	RCV000344427;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937049	17937049	19:g.17937049C>T	ClinGen:CA10648396	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*501C>T	3718	JAK3	Uncertain significance	192417008	RCV000399686;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937051	17937051	19:g.17937051G>A	ClinGen:CA10652317	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*448C>A	3718	JAK3	Benign	3212802	RCV000309394;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937104	17937104	19:g.17937104G>T	ClinGen:CA10651611	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*422C>T	3718	JAK3	Uncertain significance	902489404	RCV001125347;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937130	17937130	19:g.17937130G>A	-
NM_000215.4(JAK3):c.*404G>A	3718	JAK3	Uncertain significance	200207634	RCV001125348;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937148	17937148	19:g.17937148C>T	-
NM_000215.4(JAK3):c.*403C>T	3718	JAK3	Uncertain significance	1011458072	RCV001125349;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937149	17937149	19:g.17937149G>A	-
NM_000215.4(JAK3):c.*371C>T	3718	JAK3	Uncertain significance	185462850	RCV001125350;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937181	17937181	19:g.17937181G>A	-
NM_000215.4(JAK3):c.*306G>A	3718	JAK3	Uncertain significance	200658727	RCV001125351;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937246	17937246	19:g.17937246C>T	-
NM_000215.4(JAK3):c.*299C>T	3718	JAK3	Likely benign	201718854	RCV000390166;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937253	17937253	19:g.17937253G>A	ClinGen:CA10652318	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*298C>A	3718	JAK3	Likely benign	190366074	RCV001126317;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937254	17937254	19:g.17937254G>T	-
NM_000215.4(JAK3):c.*271G>T	3718	JAK3	Uncertain significance	886054277	RCV000313586;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937281	17937281	19:g.17937281C>A	ClinGen:CA10642423	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*252A>T	3718	JAK3	Benign	79044512	RCV000354472;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937300	17937300	19:g.17937300T>A	ClinGen:CA10651613	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*204G>A	3718	JAK3	Uncertain significance	2094204211	RCV001126318;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937348	17937348	19:g.17937348C>T	-
NM_000215.4(JAK3):c.*138G>C	3718	JAK3	Benign	3212800	RCV000300447;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937414	17937414	19:g.17937414C>G	ClinGen:CA10652319	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*137G>T	3718	JAK3	Uncertain significance	199679264	RCV001126319;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937415	17937415	19:g.17937415C>A	-
NM_000215.4(JAK3):c.*123T>C	3718	JAK3	Benign	3008	RCV000355256\|RCV001683319;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17937429	17937429	NC_000019.9:g.17937429A>G	ClinGen:CA10651615	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.*73T>C	3718	JAK3	Conflicting interpretations of pathogenicity	149873298	RCV001128367\|RCV002292610;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17937479	17937479	19:g.17937479A>G	-
NM_000215.4(JAK3):c.*36G>A	3718	JAK3	Benign	3212799	RCV000265160\|RCV001643022;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17937516	17937516	NC_000019.9:g.17937516C>T	ClinGen:CA9301331	CN239264 Severe Combined Immune Deficiency;
NC_000019.9:g.(?_17937552)_(17937739_?)dup	3718	JAK3	Uncertain significance	-1	RCV001967747;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937552	17937739	-1	-
NM_000215.4(JAK3):c.3371C>T (p.Ser1124Leu)	3718	JAK3	Uncertain significance	1599862815	RCV000800600;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937556	17937556	19:g.17937556G>A	-
NM_000215.4(JAK3):c.3366C>T (p.Ser1122=)	3718	JAK3	Likely benign	141069196	RCV000907623;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937561	17937561	19:g.17937561G>A	-
NM_000215.4(JAK3):c.3360C>G (p.Ser1120=)	3718	JAK3	Likely benign	1217168188	RCV001395144;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937567	17937567	17937567	-
NM_000215.4(JAK3):c.3356A>G (p.His1119Arg)	3718	JAK3	Uncertain significance	1275983760	RCV000793692;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937571	17937571	19:g.17937571T>C	-
NM_000215.4(JAK3):c.3345G>A (p.Glu1115=)	3718	JAK3	Likely benign	536693961	RCV002093351;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937582	17937582	17937582	-
NM_000215.4(JAK3):c.3340C>T (p.Pro1114Ser)	3718	JAK3	Uncertain significance	-1	RCV003013956;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937587	17937587	NC_000019.9:g.17937587G>A	-
NM_000215.4(JAK3):c.3337C>T (p.His1113Tyr)	3718	JAK3	Uncertain significance	1269489339	RCV002049536;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937590	17937590	17937590	-
NM_000215.4(JAK3):c.3317A>G (p.Glu1106Gly)	3718	JAK3	Uncertain significance	-1	RCV002819348;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937610	17937610	NC_000019.9:g.17937610T>C	-
NM_000215.4(JAK3):c.3308G>A (p.Arg1103Gln)	3718	JAK3	Uncertain significance	757920411	RCV001864713;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937619	17937619	17937619	-
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=)	3718	JAK3	Benign/Likely benign	201073968	RCV000639646;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937627	17937627	19:g.17937627G>A	ClinGen:CA9301353	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu)	3718	JAK3	Uncertain significance	201301192	RCV001128368;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937638	17937638	19:g.17937638T>A	-
NM_000215.4(JAK3):c.3282G>A (p.Gln1094=)	3718	JAK3	Likely benign	577496865	RCV002187147;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937645	17937645	17937645	-
NM_000215.4(JAK3):c.3276C>A (p.Gly1092=)	3718	JAK3	Likely benign	199611932	RCV001471640;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937651	17937651	17937651	-
NM_000215.4(JAK3):c.3276C>T (p.Gly1092=)	3718	JAK3	Likely benign	199611932	RCV002198936;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937651	17937651	17937651	-
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)	3718	JAK3	Likely benign	144968714	RCV000121268\|RCV000891632\|RCV001355102;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17937659	17937659	19:g.17937659C>T	ClinGen:CA160243	CN169374 not specified;
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)	3718	JAK3	Conflicting interpretations of pathogenicity	138593705	RCV000876754;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937660	17937660	19:g.17937660G>A	-
NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)	3718	JAK3	Uncertain significance	2094204878	RCV002019759;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937673	17937673	17937673	-
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)	3718	JAK3	Uncertain significance	1265005806	RCV000587775\|RCV001860123;	N	MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937674	17937674	19:g.17937674G>A	ClinGen:CA404763148	CN517202 not provided;
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe)	3718	JAK3	Uncertain significance	200580168	RCV001068240;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937710	17937710	19:g.17937710G>A	-
NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys)	3718	JAK3	Likely benign	752088869	RCV001067558;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937713	17937713	19:g.17937713C>T	-
NM_000215.4(JAK3):c.3214G>C (p.Glu1072Gln)	3718	JAK3	Uncertain significance	752088869	RCV001977659;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937713	17937713	17937713	-
NM_000215.4(JAK3):c.3213C>T (p.His1071=)	3718	JAK3	Conflicting interpretations of pathogenicity	757910571	RCV000639642;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937714	17937714	19:g.17937714G>A	ClinGen:CA9301366	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.3208-9G>A	3718	JAK3	Likely benign	201379612	RCV001440429;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937728	17937728	17937728	-
NM_000215.4(JAK3):c.3208-10C>T	3718	JAK3	Likely benign	200159093	RCV002218035;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937729	17937729	17937729	-
NM_000215.4(JAK3):c.3208-12C>T	3718	JAK3	Likely benign	-1	RCV002582024;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937731	17937731	NC_000019.9:g.17937731G>A	-
NM_000215.4(JAK3):c.3208-16G>T	3718	JAK3	Likely benign	200008494	RCV002186620;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17937735	17937735	17937735	-
NC_000019.9:g.(?_17940897)_(17943758_?)del	3718	JAK3	Pathogenic	-1	RCV001890806;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940897	17943758	-1	-
NM_000215.4(JAK3):c.3207+10G>A	3718	JAK3	Likely benign	866815271	RCV002200143;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940907	17940907	17940907	-
NM_000215.4(JAK3):c.3207+9C>A	3718	JAK3	Likely benign	-1	RCV003085784;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940908	17940908	NC_000019.9:g.17940908G>T	-
NM_000215.4(JAK3):c.3207G>A (p.Glu1069=)	3718	JAK3	Uncertain significance	-1	RCV002590107;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940917	17940917		-
NM_000215.4(JAK3):c.3204T>A (p.Ala1068=)	3718	JAK3	Uncertain significance	778126810	RCV001990960;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940920	17940920	17940920	-
NM_000215.4(JAK3):c.3200C>T (p.Pro1067Leu)	3718	JAK3	Uncertain significance	1223885282	RCV001043017;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940924	17940924	19:g.17940924G>A	-
NM_000215.4(JAK3):c.3189T>A (p.Pro1063=)	3718	JAK3	Likely benign	1007591322	RCV002076325;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940935	17940935	17940935	-
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)	3718	JAK3	Conflicting interpretations of pathogenicity	369402343	RCV000320775;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940941	17940941	NC_000019.9:g.17940941C>A	ClinGen:CA9301401	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.3174G>A (p.Gln1058=)	3718	JAK3	Likely benign	773788067	RCV002213560;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940950	17940950	17940950	-
NM_000215.4(JAK3):c.3165G>A (p.Glu1055=)	3718	JAK3	Likely benign	1599865897	RCV001432841;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940959	17940959	19:g.17940959C>T	-
NM_000215.4(JAK3):c.3164A>G (p.Glu1055Gly)	3718	JAK3	Uncertain significance	-1	RCV002584944;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940960	17940960	NC_000019.9:g.17940960T>C	-
NM_000215.4(JAK3):c.3161T>C (p.Leu1054Pro)	3718	JAK3	Uncertain significance	-1	RCV002299782;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940963	17940963	17940963	-
NM_000215.4(JAK3):c.3160C>A (p.Leu1054Met)	3718	JAK3	Uncertain significance	-1	RCV002842490;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940964	17940964	NC_000019.9:g.17940964G>T	-
NM_000215.4(JAK3):c.3146G>T (p.Arg1049Leu)	3718	JAK3	Uncertain significance	750073941	RCV001911284;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940978	17940978	17940978	-
NM_000215.4(JAK3):c.3144C>T (p.Cys1048=)	3718	JAK3	Likely benign	201735857	RCV002186000;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17940980	17940980	17940980	-
NM_000215.4(JAK3):c.3104T>A (p.Leu1035Gln)	3718	JAK3	Uncertain significance	2094211254	RCV001887420;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941020	17941020	17941020	-
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)	3718	JAK3	Conflicting interpretations of pathogenicity	1424732031	RCV000626253\|RCV001824145;	N	MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941021	17941021	NC_000019.9:g.17941021delG	ClinGen:CA404764280	C1832322 601457 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;
NM_000215.4(JAK3):c.3096+20C>A	3718	JAK3	Likely benign	765910786	RCV002122015;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941292	17941292	17941292	-
NM_000215.4(JAK3):c.3096+18A>G	3718	JAK3	Benign	2302603	RCV000030093\|RCV001514213\|RCV001668138;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17941294	17941294	19:g.17941294T>C	ClinGen:CA214095	C0085110 Severe combined immunodeficiency disease;
NM_000215.4(JAK3):c.3096+8G>C	3718	JAK3	Likely benign	374300158	RCV001488943;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941304	17941304	19:g.17941304C>G	-
NM_000215.4(JAK3):c.3096+1G>T	3718	JAK3	Likely pathogenic	-1	RCV003230789;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941311	17941311		-
NM_000215.4(JAK3):c.3094G>A (p.Ala1032Thr)	3718	JAK3	Uncertain significance	2094211935	RCV001210418;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941314	17941314	19:g.17941314C>T	-
NM_000215.4(JAK3):c.3087C>G (p.Ser1029Arg)	3718	JAK3	Uncertain significance	202044618	RCV001936765;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941321	17941321	17941321	-
NM_000215.4(JAK3):c.3084C>T (p.Cys1028=)	3718	JAK3	Likely benign	200096249	RCV001483887;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941324	17941324	19:g.17941324G>A	-
NM_000215.4(JAK3):c.3067T>C (p.Tyr1023His)	3718	JAK3	Uncertain significance	145260622	RCV001060363;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941341	17941341	19:g.17941341A>G	-
NM_000215.4(JAK3):c.3066C>T (p.Thr1022=)	3718	JAK3	Likely benign	200112920	RCV002084299;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941342	17941342	17941342	-
NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter)	3718	JAK3	Pathogenic	2147674587	RCV001941562;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941376	17941376	17941376	-
NM_000215.4(JAK3):c.3021G>A (p.Gln1007=)	3718	JAK3	Likely benign	553571090	RCV001449411;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941387	17941387	17941387	-
NM_000215.4(JAK3):c.3007A>G (p.Ile1003Val)	3718	JAK3	Benign	137901277	RCV001511584;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941401	17941401	17941401	-
NM_000215.4(JAK3):c.3002ACA[1] (p.Asn1002del)	3718	JAK3	Uncertain significance	-1	RCV002918566;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941401	17941403	NC_000019.9:g.17941401TGT[1]	-
NM_000215.4(JAK3):c.2996T>C (p.Leu999Pro)	3718	JAK3	Uncertain significance	-1	RCV002296167;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941412	17941412	17941412	-
NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter)	3718	JAK3	Pathogenic	1568400897	RCV000693903;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941419	17941419	19:g.17941419C>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2985C>G (p.Ala995=)	3718	JAK3	Likely benign	1382312413	RCV002208705;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17941423	17941423	17941423	-
NM_000215.4(JAK3):c.2978+15C>T	3718	JAK3	Benign/Likely benign	587780955	RCV000125436\|RCV002055573;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942022	17942022	NC_000019.9:g.17942022G>A	ClinGen:CA291257	CN169374 not specified;
NM_000215.4(JAK3):c.2978+12G>A	3718	JAK3	Likely benign	1164733759	RCV002098309;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942025	17942025	17942025	-
NM_000215.4(JAK3):c.2978+9C>A	3718	JAK3	Likely benign	750682558	RCV002130696;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942028	17942028	17942028	-
NM_000215.4(JAK3):c.2973T>C (p.Ile991=)	3718	JAK3	Likely benign	-1	RCV003112026;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942042	17942042		-
NM_000215.4(JAK3):c.2970C>T (p.Pro990=)	3718	JAK3	Likely benign	-1	RCV002775314;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942045	17942045		-
NM_000215.4(JAK3):c.2964G>A (p.Gln988=)	3718	JAK3	Uncertain significance	-1	RCV002722073;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942051	17942051		-
NM_000215.4(JAK3):c.2937C>G (p.Asp979Glu)	3718	JAK3	Uncertain significance	2147675743	RCV001912387;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942078	17942078	17942078	-
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs)	3718	JAK3	Pathogenic	1380154594	RCV000990181;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942081	17942082	19:g.17942081_17942082del	-
NM_000215.4(JAK3):c.2919G>A (p.Leu973=)	3718	JAK3	Likely benign	769510241	RCV002091021;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942096	17942096	17942096	-
NM_000215.4(JAK3):c.2867T>C (p.Leu956Pro)	3718	JAK3	Uncertain significance	-1	RCV002962636;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942148	17942148	NC_000019.9:g.17942148A>G	-
NM_000215.4(JAK3):c.2862C>T (p.Asn954=)	3718	JAK3	Benign	199553891	RCV001516587;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942153	17942153	17942153	-
NM_000215.4(JAK3):c.2854G>T (p.Ala952Ser)	3718	JAK3	Uncertain significance	-1	RCV002596631;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942161	17942161	NC_000019.9:g.17942161C>A	-
NM_000215.4(JAK3):c.2850G>T (p.Leu950=)	3718	JAK3	Likely benign	2094214171	RCV001494962;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942165	17942165	17942165	-
NM_000215.4(JAK3):c.2825C>T (p.Ser942Phe)	3718	JAK3	Uncertain significance	372733285	RCV001924595;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942190	17942190	17942190	-
NM_000215.4(JAK3):c.2809A>G (p.Met937Val)	3718	JAK3	Uncertain significance	-1	RCV002589109;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942206	17942206	NC_000019.9:g.17942206T>C	-
NM_000215.4(JAK3):c.2806-14CCGC[4]	3718	JAK3	Likely benign	1599867265	RCV001401137;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942211	17942212	19:g.17942211_17942212insGCGG	-
NM_000215.4(JAK3):c.2806-4G>A	3718	JAK3	Likely benign	-1	RCV003006031;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942213	17942213	NC_000019.9:g.17942213C>T	-
NM_000215.4(JAK3):c.2806-13C>T	3718	JAK3	Benign	193156379	RCV001122646\|RCV001718834;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17942222	17942222	19:g.17942222G>A	ClinGen:CA9301492	CN169374 not specified;
NM_000215.4(JAK3):c.2806-14C>G	3718	JAK3	Uncertain significance	976222264	RCV001122647;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942223	17942223	19:g.17942223G>C	-
NM_000215.4(JAK3):c.2806-20C>G	3718	JAK3	Benign	199653549	RCV002122663;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942229	17942229	17942229	-
NM_000215.4(JAK3):c.2805+17dup	3718	JAK3	Benign	2147676559	RCV002126301;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942465	17942466	17942465	-
NM_000215.4(JAK3):c.2805+5G>A	3718	JAK3	Likely benign	200731018	RCV000926113;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942478	17942478	19:g.17942478C>T	-
NM_000215.4(JAK3):c.2805+4C>A	3718	JAK3	Uncertain significance	-1	RCV002583911;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942479	17942479	NC_000019.9:g.17942479G>T	-
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)	3718	JAK3	Likely benign	149452625	RCV000480888\|RCV000990182;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942515	17942515	19:g.17942515G>T	ClinGen:CA9301512	CN517202 not provided;
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys)	3718	JAK3	Uncertain significance	149452625	RCV001122648;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942515	17942515	19:g.17942515G>A	-
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)	3718	JAK3	Conflicting interpretations of pathogenicity	199939250	RCV000380096\|RCV001701852;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN517202	19	17942516	17942516	NC_000019.9:g.17942516G>A	ClinGen:CA9301514	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2769C>T (p.Ala923=)	3718	JAK3	Likely benign	-1	RCV002796028;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942519	17942519		-
NM_000215.4(JAK3):c.2764G>A (p.Asp922Asn)	3718	JAK3	Uncertain significance	763951351	RCV000822919;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942524	17942524	19:g.17942524C>T	-
NM_000215.4(JAK3):c.2764G>C (p.Asp922His)	3718	JAK3	Uncertain significance	763951351	RCV001999385;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942524	17942524	17942524	-
NM_000215.4(JAK3):c.2761C>T (p.Leu921Phe)	3718	JAK3	Uncertain significance	886054278	RCV000266853;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942527	17942527	NC_000019.9:g.17942527G>A	ClinGen:CA10648411	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2756C>T (p.Ala919Val)	3718	JAK3	Likely benign	767424476	RCV000685382;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942532	17942532	19:g.17942532G>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2754_2755delinsGC (p.Ala919Pro)	3718	JAK3	Uncertain significance	2147676832	RCV002012463;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942533	17942534	17942533	-
NM_000215.4(JAK3):c.2755G>C (p.Ala919Pro)	3718	JAK3	Likely benign	-1	RCV002846915;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942533	17942533	NC_000019.9:g.17942533C>G	-
NM_000215.4(JAK3):c.2753G>C (p.Arg918Pro)	3718	JAK3	Uncertain significance	753577833	RCV001938281\|RCV003355652;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MeSH:D030342,MedGen:C0950123	19	17942535	17942535	17942535	-
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)	3718	JAK3	Likely pathogenic	-1	RCV003146765;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942545	17942545	NC_000019.9:g.17942545G>A	-
NM_000215.4(JAK3):c.2740C>T (p.Leu914=)	3718	JAK3	Likely benign	747463452	RCV002097739;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942548	17942548	17942548	-
NM_000215.4(JAK3):c.2734G>T (p.Asp912Tyr)	3718	JAK3	Uncertain significance	2147676935	RCV001977389;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942554	17942554	17942554	-
NM_000215.4(JAK3):c.2719A>G (p.Ser907Gly)	3718	JAK3	Uncertain significance	1259843283	RCV001870263;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942569	17942569	17942569	-
NM_000215.4(JAK3):c.2718C>A (p.Pro906=)	3718	JAK3	Likely benign	370066330	RCV002148143;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942570	17942570	17942570	-
NM_000215.4(JAK3):c.2709G>A (p.Glu903=)	3718	JAK3	Likely benign	-1	RCV002775084;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942579	17942579		-
NM_000215.4(JAK3):c.2704A>G (p.Met902Val)	3718	JAK3	Uncertain significance	200855932	RCV001214894;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942584	17942584	19:g.17942584T>C	-
NM_000215.4(JAK3):c.2693T>G (p.Leu898Arg)	3718	JAK3	Uncertain significance	2094215030	RCV001049911;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942595	17942595	19:g.17942595A>C	-
NM_000215.4(JAK3):c.2692C>T (p.Leu898=)	3718	JAK3	Uncertain significance	202043320	RCV001122649;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942596	17942596	19:g.17942596G>A	-
NM_000215.4(JAK3):c.2681-9C>A	3718	JAK3	Likely benign	-1	RCV003104199;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942616	17942616	NC_000019.9:g.17942616G>T	-
NM_000215.4(JAK3):c.2681-11G>T	3718	JAK3	Conflicting interpretations of pathogenicity	201970522	RCV000326583;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17942618	17942618	NC_000019.9:g.17942618C>A	ClinGen:CA9301539	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2680+89G>A	3718	JAK3	Likely pathogenic	-1	RCV002919224;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943239	17943239	NC_000019.9:g.17943239C>T	-
NM_000215.4(JAK3):c.2680+19G>A	3718	JAK3	Likely benign	-1	RCV003042864;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943309	17943309	NC_000019.9:g.17943309C>T	-
NM_000215.4(JAK3):c.2680+15G>A	3718	JAK3	Conflicting interpretations of pathogenicity	201288968	RCV000381039;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943313	17943313	NC_000019.9:g.17943313C>T	ClinGen:CA9301553	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2680+3G>C	3718	JAK3	Conflicting interpretations of pathogenicity	749481781	RCV000346279;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943325	17943325	NC_000019.9:g.17943325C>G	ClinGen:CA9301555	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2679G>A (p.Pro893=)	3718	JAK3	Uncertain significance	200480252	RCV001052104;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943329	17943329	19:g.17943329C>T	-
NM_000215.4(JAK3):c.2678C>T (p.Pro893Leu)	3718	JAK3	Uncertain significance	772027199	RCV000291308;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943330	17943330	NC_000019.9:g.17943330G>A	ClinGen:CA9301556	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2673T>C (p.Tyr891=)	3718	JAK3	Likely benign	201537885	RCV001429597;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943335	17943335	17943335	-
NM_000215.4(JAK3):c.2664T>G (p.Gly888=)	3718	JAK3	Likely benign	2147678142	RCV001425961;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943344	17943344	17943344	-
NM_000215.4(JAK3):c.2660G>A (p.Arg887His)	3718	JAK3	Uncertain significance	148688786	RCV000791870;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943348	17943348	19:g.17943348C>T	-
NM_000215.4(JAK3):c.2659C>T (p.Arg887Cys)	3718	JAK3	Uncertain significance	759015510	RCV001043850;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943349	17943349	19:g.17943349G>A	-
NM_000215.4(JAK3):c.2655G>A (p.Lys885=)	3718	JAK3	Likely benign	1479562469	RCV002109466;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943353	17943353	17943353	-
NM_000215.4(JAK3):c.2652C>T (p.Val884=)	3718	JAK3	Likely pathogenic	2094216237	RCV001329705;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943356	17943356	17943356	-
NM_000215.4(JAK3):c.2636A>G (p.His879Arg)	3718	JAK3	Likely benign	3179893	RCV000414420\|RCV000639629;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943372	17943372	19:g.17943372T>C	ClinGen:CA9301563	CN169374 not specified;
NM_000215.4(JAK3):c.2630C>T (p.Ala877Val)	3718	JAK3	Uncertain significance	201869359	RCV001123740;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943378	17943378	19:g.17943378G>A	-
NM_000215.4(JAK3):c.2625C>T (p.Leu875=)	3718	JAK3	Benign	2230589	RCV000030091\|RCV000125435\|RCV000551469;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943383	17943383	19:g.17943383G>A	ClinGen:CA214091	CN169374 not specified;
NM_000215.4(JAK3):c.2619G>T (p.Gln873His)	3718	JAK3	Uncertain significance	200645418	RCV000818161;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943389	17943389	19:g.17943389C>A	-
NM_000215.4(JAK3):c.2615T>C (p.Ile872Thr)	3718	JAK3	Uncertain significance	2094216320	RCV001235891\|RCV001773533;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN517202	19	17943393	17943393	19:g.17943393A>G	-
NM_000215.4(JAK3):c.2609G>A (p.Arg870Gln)	3718	JAK3	Uncertain significance	376945173	RCV000810608;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943399	17943399	19:g.17943399C>T	-
NM_000215.4(JAK3):c.2609G>C (p.Arg870Pro)	3718	JAK3	Uncertain significance	-1	RCV002295716;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943399	17943399	17943399	-
NM_000215.4(JAK3):c.2593C>G (p.Gln865Glu)	3718	JAK3	Uncertain significance	749480147	RCV000639628;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943415	17943415	19:g.17943415G>C	ClinGen:CA9301571	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2581G>A (p.Gly861Arg)	3718	JAK3	Uncertain significance	200784656	RCV000808075;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943427	17943427	19:g.17943427C>T	-
NM_000215.4(JAK3):c.2571G>T (p.Leu857=)	3718	JAK3	Likely benign	2050410603	RCV002124041;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943437	17943437	17943437	-
NM_000215.4(JAK3):c.2565A>G (p.Lys855=)	3718	JAK3	Likely benign	-1	RCV003048432;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943443	17943443		-
NM_000215.4(JAK3):c.2562G>C (p.Val854=)	3718	JAK3	Likely benign	2147678363	RCV001496005;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943446	17943446	17943446	-
NM_000215.4(JAK3):c.2559C>T (p.Ala853=)	3718	JAK3	Likely benign	-1	RCV002628705;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943449	17943449		-
NM_000215.4(JAK3):c.2554G>C (p.Val852Leu)	3718	JAK3	Uncertain significance	-1	RCV002301154;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943454	17943454	17943454	-
NM_000215.4(JAK3):c.2536G>A (p.Asp846Asn)	3718	JAK3	Uncertain significance	-1	RCV002618498;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943472	17943472	NC_000019.9:g.17943472C>T	-
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)	3718	JAK3	Uncertain significance	200746503	RCV001123741;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943473	17943473	19:g.17943473G>A	-
NM_000215.4(JAK3):c.2530C>G (p.Leu844Val)	3718	JAK3	Uncertain significance	2147678424	RCV002012500;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943478	17943478	17943478	-
NM_000215.4(JAK3):c.2529G>A (p.Pro843=)	3718	JAK3	Likely benign	775003661	RCV001427815\|RCV003416335;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17943479	17943479	17943479	-
NM_000215.4(JAK3):c.2519G>A (p.Arg840His)	3718	JAK3	Uncertain significance	140837014	RCV001362976;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943489	17943489	17943489	-
NM_000215.4(JAK3):c.2519G>T (p.Arg840Leu)	3718	JAK3	Uncertain significance	140837014	RCV001906367;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943489	17943489	17943489	-
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys)	3718	JAK3	Uncertain significance	200077579	RCV000822695\|RCV003311900;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17943490	17943490	19:g.17943490G>A	-
NM_000215.4(JAK3):c.2505C>T (p.Ser835=)	3718	JAK3	Likely benign	201199096	RCV001474145;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943503	17943503	19:g.17943503G>A	-
NM_000215.4(JAK3):c.2503A>T (p.Ser835Cys)	3718	JAK3	Uncertain significance	201966394	RCV000788353\|RCV001231459;	N	MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943505	17943505	19:g.17943505T>A	-
NM_000215.4(JAK3):c.2495A>G (p.Asn832Ser)	3718	JAK3	Uncertain significance	2147678543	RCV001895860;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943513	17943513	17943513	-
NM_000215.4(JAK3):c.2491-3C>G	3718	JAK3	Uncertain significance	1568401934	RCV000687532;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943520	17943520	NC_000019.9:g.17943520G>C	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2491-12G>A	3718	JAK3	Likely benign	-1	RCV002640445;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943529	17943529	NC_000019.9:g.17943529C>T	-
NM_000215.4(JAK3):c.2491-14C>T	3718	JAK3	Likely benign	202094680	RCV002135923;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943531	17943531	17943531	-
NM_000215.4(JAK3):c.2491-16T>G	3718	JAK3	Likely benign	2147678611	RCV002164501;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943533	17943533	17943533	-
NM_000215.4(JAK3):c.2490+17C>A	3718	JAK3	Likely benign	1012424691	RCV002123238;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943582	17943582	17943582	-
NM_000215.4(JAK3):c.2490+14G>A	3718	JAK3	Likely benign	-1	RCV003035666;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943585	17943585	NC_000019.9:g.17943585C>T	-
NM_000215.4(JAK3):c.2490+4A>C	3718	JAK3	Uncertain significance	745806475	RCV001123742;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943595	17943595	19:g.17943595T>G	-
NM_000215.4(JAK3):c.2490+1G>T	3718	JAK3	Likely pathogenic	2147678827	RCV001377944;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943598	17943598	17943598	-
NM_000215.4(JAK3):c.2479C>G (p.Gln827Glu)	3718	JAK3	Uncertain significance	144683649	RCV001367373;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943610	17943610	17943610	-
NM_000215.4(JAK3):c.2475C>G (p.Ile825Met)	3718	JAK3	Uncertain significance	1459489474	RCV001989523;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943614	17943614	17943614	-
NM_000215.4(JAK3):c.2466C>G (p.Leu822=)	3718	JAK3	Likely benign	-1	RCV002923351;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943623	17943623		-
NM_000215.4(JAK3):c.2463C>T (p.His821=)	3718	JAK3	Likely benign	200691724	RCV001468876;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943626	17943626	17943626	-
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys)	3718	JAK3	Uncertain significance	374191135	RCV000536312\|RCV000735332;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|6 conditions	19	17943637	17943637	19:g.17943637C>T	ClinGen:CA9301599	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2451C>T (p.Phe817=)	3718	JAK3	Benign/Likely benign	201576913	RCV000526013;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943638	17943638	NC_000019.9:g.17943638G>A	ClinGen:CA9301600	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2442C>A (p.Pro814=)	3718	JAK3	Likely benign	201364561	RCV002085083;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943647	17943647	17943647	-
NM_000215.4(JAK3):c.2412T>C (p.Asn804=)	3718	JAK3	Likely benign	368403369	RCV001476863;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943677	17943677	17943677	-
NM_000215.4(JAK3):c.2397T>C (p.Arg799=)	3718	JAK3	Likely benign	-1	RCV003028672;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943692	17943692		-
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys)	3718	JAK3	Uncertain significance	201241352	RCV001126402;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943694	17943694	19:g.17943694G>A	-
NM_000215.4(JAK3):c.2391A>G (p.Ala797=)	3718	JAK3	Conflicting interpretations of pathogenicity	199910484	RCV000873059;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943698	17943698	NC_000019.9:g.17943698T>C	ClinGen:CA9301607	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2390C>T (p.Ala797Val)	3718	JAK3	Uncertain significance	765366102	RCV001948597;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943699	17943699	17943699	-
NM_000215.4(JAK3):c.2381G>A (p.Gly794Asp)	3718	JAK3	Uncertain significance	935305331	RCV001318438;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943708	17943708	17943708	-
NM_000215.4(JAK3):c.2372C>A (p.Pro791His)	3718	JAK3	Likely benign	1413703588	RCV002150011;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943717	17943717	17943717	-
NM_000215.4(JAK3):c.2364C>T (p.Leu788=)	3718	JAK3	Likely benign	-1	RCV003105226;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943725	17943725		-
NM_000215.4(JAK3):c.2358G>A (p.Glu786=)	3718	JAK3	Conflicting interpretations of pathogenicity	1057518544	RCV000412868\|RCV002058870;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943731	17943731	19:g.17943731C>T	ClinGen:CA16043078	CN169374 not specified;
NM_000215.4(JAK3):c.2351-5C>A	3718	JAK3	Uncertain significance	2094217117	RCV001304087;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943743	17943743	17943743	-
NM_000215.4(JAK3):c.2351-6C>T	3718	JAK3	Likely benign	-1	RCV002800965;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943744	17943744	NC_000019.9:g.17943744G>A	-
NM_000215.4(JAK3):c.2351-11C>T	3718	JAK3	Likely benign	200386518	RCV002071796;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943749	17943749	17943749	-
NM_000215.4(JAK3):c.2351-15A>G	3718	JAK3	Likely benign	-1	RCV003033660;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17943753	17943753	NC_000019.9:g.17943753T>C	-
NC_000019.9:g.(?_17944409)_(17945894_?)del	3718	JAK3	Likely pathogenic	-1	RCV002046698;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17944409	17945894	-1	-
NM_000215.4(JAK3):c.2350+14C>T	3718	JAK3	Likely benign	771815977	RCV002126977;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945366	17945366	17945366	-
NM_000215.4(JAK3):c.2350+12G>A	3718	JAK3	Likely benign	199675950	RCV002117730;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945368	17945368	17945368	-
NM_000215.4(JAK3):c.2350+7G>A	3718	JAK3	Conflicting interpretations of pathogenicity	200658439	RCV001126403;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945373	17945373	19:g.17945373C>T	-
NM_000215.4(JAK3):c.2350+6C>T	3718	JAK3	Uncertain significance	200193137	RCV001373228;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945374	17945374	17945374	-
NM_000215.4(JAK3):c.2350+5C>T	3718	JAK3	Uncertain significance	2147681249	RCV001883935;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945375	17945375	17945375	-
NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)	3718	JAK3	Pathogenic	-1	RCV003079231;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945380	17945380	NC_000019.9:g.17945380C>T	-
NM_000215.4(JAK3):c.2349A>T (p.Ser783=)	3718	JAK3	Uncertain significance	-1	RCV003052960;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945381	17945381		-
NM_000215.4(JAK3):c.2348C>T (p.Ser783Leu)	3718	JAK3	Uncertain significance	-1	RCV002705578;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945382	17945382	NC_000019.9:g.17945382G>A	-
NM_000215.4(JAK3):c.2345C>T (p.Ser782Phe)	3718	JAK3	Uncertain significance	-1	RCV003075323;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945385	17945385	NC_000019.9:g.17945385G>A	-
NM_000215.4(JAK3):c.2333A>G (p.Asn778Ser)	3718	JAK3	Uncertain significance	199861157	RCV001042875;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945397	17945397	19:g.17945397T>C	-
NM_000215.4(JAK3):c.2324G>A (p.Arg775His)	3718	JAK3	Pathogenic/Likely pathogenic	1251299279	RCV001824245;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945406	17945406	17945406	-
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys)	3718	JAK3	Uncertain significance	200624610	RCV000121263\|RCV001304755;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945407	17945407	19:g.17945407G>A	ClinGen:CA160228	CN169374 not specified;
NM_000215.4(JAK3):c.2317G>A (p.Val773Ile)	3718	JAK3	Uncertain significance	201531563	RCV001202151;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945413	17945413	19:g.17945413C>T	-
NM_000215.4(JAK3):c.2316C>A (p.Ala772=)	3718	JAK3	Likely benign	139268535	RCV000814182;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945414	17945414	19:g.17945414G>T	-
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)	3718	JAK3	Pathogenic	1198251679	RCV001963164;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945419	17945419	17945419	-
NM_000215.4(JAK3):c.2292G>A (p.Pro764=)	3718	JAK3	Likely benign	200685231	RCV001462167;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945438	17945438	19:g.17945438C>T	-
NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu)	3718	JAK3	Uncertain significance	149982493	RCV001070458;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945439	17945439	19:g.17945439G>A	-
NM_000215.4(JAK3):c.2280G>T (p.Met760Ile)	3718	JAK3	Uncertain significance	-1	RCV002810364;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945450	17945450	NC_000019.9:g.17945450C>A	-
NM_000215.4(JAK3):c.2262G>A (p.Leu754=)	3718	JAK3	Likely benign	375857709	RCV000547874;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945468	17945468	19:g.17945468C>T	ClinGen:CA306129518	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2259C>T (p.Ala753=)	3718	JAK3	Benign	35458530	RCV000030090\|RCV000125434\|RCV000537534;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945471	17945471	19:g.17945471G>A	ClinGen:CA214088	CN169374 not specified;
NM_000215.4(JAK3):c.2259C>G (p.Ala753=)	3718	JAK3	Likely benign	-1	RCV002611429;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945471	17945471		-
NM_000215.4(JAK3):c.2258C>A (p.Ala753Asp)	3718	JAK3	Uncertain significance	2094220604	RCV001126404;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945472	17945472	19:g.17945472G>T	-
NM_000215.4(JAK3):c.2254C>T (p.Leu752=)	3718	JAK3	Conflicting interpretations of pathogenicity	200123352	RCV001126405;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945476	17945476	19:g.17945476G>A	-
NM_000215.4(JAK3):c.2237C>T (p.Ala746Val)	3718	JAK3	Uncertain significance	2094220656	RCV001998706;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945493	17945493	17945493	-
NM_000215.4(JAK3):c.2235G>A (p.Pro745=)	3718	JAK3	Benign/Likely benign	149207170	RCV000872807\|RCV001702739;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17945495	17945495	19:g.17945495C>T	-
NM_000215.4(JAK3):c.2222G>A (p.Arg741Gln)	3718	JAK3	Uncertain significance	202027945	RCV001035849;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945508	17945508	19:g.17945508C>T	-
NM_000215.4(JAK3):c.2199+18G>A	3718	JAK3	Likely benign	-1	RCV002664023;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945643	17945643	NC_000019.9:g.17945643C>T	-
NM_000215.4(JAK3):c.2199+11C>T	3718	JAK3	Likely benign	1380361871	RCV002141442;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945650	17945650	17945650	-
NM_000215.4(JAK3):c.2199+10C>G	3718	JAK3	Likely benign	185973755	RCV002215478;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945651	17945651	17945651	-
NM_000215.4(JAK3):c.2199+4A>G	3718	JAK3	Uncertain significance	2094221083	RCV001926560;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945657	17945657	17945657	-
NM_000215.4(JAK3):c.2177T>G (p.Ile726Ser)	3718	JAK3	Uncertain significance	-1	RCV002811499;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945683	17945683	NC_000019.9:g.17945683A>C	-
NM_000215.4(JAK3):c.2165T>C (p.Val722Ala)	3718	JAK3	Uncertain significance	1322146058	RCV001240319;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945695	17945695	19:g.17945695A>G	-
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)	3718	JAK3	Benign/Likely benign	3213409	RCV000121262\|RCV000436031\|RCV000418338\|RCV000558788\|RCV001357996;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462, Orphanet:518\|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640, Orphanet:513\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17945696	17945696	19:g.17945696C>T	ClinGen:CA160225,UniProtKB:P52333#VAR_010496	C0023462 Acute megakaryoblastic leukemia;
NM_000215.4(JAK3):c.2163C>T (p.Gly721=)	3718	JAK3	Likely benign	200715301	RCV002130828\|RCV003408142;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17945697	17945697	17945697	-
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)	3718	JAK3	Conflicting interpretations of pathogenicity	146837396	RCV000121261\|RCV000625141;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945708	17945708	19:g.17945708C>G	ClinGen:CA160222	CN169374 not specified;
NM_000215.4(JAK3):c.2142G>A (p.Thr714=)	3718	JAK3	Likely benign	1473714442	RCV001057862;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945718	17945718	19:g.17945718C>T	-
NM_000215.4(JAK3):c.2136C>T (p.Gly712=)	3718	JAK3	Likely benign	769105045	RCV001399373;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945724	17945724	19:g.17945724G>A	-
NM_000215.4(JAK3):c.2134G>A (p.Gly712Ser)	3718	JAK3	Uncertain significance	1178958564	RCV002020813\|RCV003408090;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|	19	17945726	17945726	17945726	-
NM_000215.4(JAK3):c.2133C>T (p.Phe711=)	3718	JAK3	Likely benign	200726812	RCV001411330;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945727	17945727	17945727	-
NM_000215.4(JAK3):c.2105T>C (p.Leu702Pro)	3718	JAK3	Uncertain significance	772117537	RCV000792655;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945755	17945755	19:g.17945755A>G	-
NM_000215.4(JAK3):c.2097G>A (p.Ala699=)	3718	JAK3	Conflicting interpretations of pathogenicity	571402316	RCV000400570\|RCV000973995;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17945763	17945763	NC_000019.9:g.17945763C>T	ClinGen:CA9301680	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2096C>T (p.Ala699Val)	3718	JAK3	Uncertain significance	-1	RCV002593110;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945764	17945764	NC_000019.9:g.17945764G>A	-
NM_000215.4(JAK3):c.2095G>T (p.Ala699Ser)	3718	JAK3	Uncertain significance	199938989	RCV000691443;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945765	17945765	19:g.17945765C>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2090G>A (p.Arg697Gln)	3718	JAK3	Uncertain significance	200849846	RCV001068388;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945770	17945770	19:g.17945770C>T	-
NM_000215.4(JAK3):c.2089C>T (p.Arg697Trp)	3718	JAK3	Uncertain significance	201838318	RCV000702376;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945771	17945771	NC_000019.9:g.17945771G>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.2079C>T (p.Pro693=)	3718	JAK3	Conflicting interpretations of pathogenicity	145377049	RCV000901791;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945781	17945781	NC_000019.9:g.17945781G>A	ClinGen:CA9301686	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.2073G>A (p.Val691=)	3718	JAK3	Likely benign	-1	RCV002602229;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945787	17945787		-
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)	3718	JAK3	Conflicting interpretations of pathogenicity	35785705	RCV000121260\|RCV000335092;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945798	17945798	19:g.17945798T>A	UniProtKB:P52333#VAR_041726,ClinGen:CA160219	CN169374 not specified;
NM_000215.4(JAK3):c.2055C>T (p.Thr685=)	3718	JAK3	Likely benign	745486642	RCV002121850;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945805	17945805	17945805	-
NM_000215.4(JAK3):c.2055C>A (p.Thr685=)	3718	JAK3	Uncertain significance	-1	RCV002876026;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945805	17945805		-
NM_000215.4(JAK3):c.2048-4T>G	3718	JAK3	Likely benign	1599870679	RCV001479164;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945816	17945816	19:g.17945816A>C	-
NM_000215.4(JAK3):c.2048-19C>A	3718	JAK3	Likely benign	2147682566	RCV002092525;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945831	17945831	17945831	-
NM_000215.4(JAK3):c.2047+20G>C	3718	JAK3	Likely benign	-1	RCV002893965;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945872	17945872	NC_000019.9:g.17945872C>G	-
NM_000215.4(JAK3):c.2047+19A>T	3718	JAK3	Likely benign	2147682659	RCV002099864;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945873	17945873	17945873	-
NM_000215.4(JAK3):c.2047+15G>A	3718	JAK3	Likely benign	200237945	RCV002126607;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945877	17945877	17945877	-
NM_000215.4(JAK3):c.2030C>G (p.Ala677Gly)	3718	JAK3	Uncertain significance	-1	RCV003032756;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945909	17945909	NC_000019.9:g.17945909G>C	-
NM_000215.4(JAK3):c.2029G>A (p.Ala677Thr)	3718	JAK3	Uncertain significance	-1	RCV002928024;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945910	17945910	NC_000019.9:g.17945910C>T	-
NM_000215.4(JAK3):c.2028C>T (p.Pro676=)	3718	JAK3	Likely benign	137936180	RCV002077503;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945911	17945911	17945911	-
NM_000215.4(JAK3):c.2028C>G (p.Pro676=)	3718	JAK3	Likely benign	-1	RCV002877201;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945911	17945911		-
NM_000215.4(JAK3):c.2016T>C (p.Pro672=)	3718	JAK3	Likely benign	200250579	RCV001437040;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945923	17945923	17945923	-
NM_000215.4(JAK3):c.1997TCA[1] (p.Ile667del)	3718	JAK3	Uncertain significance	2147682930	RCV001890883;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945937	17945939	17945936	-
NM_000215.4(JAK3):c.1995C>T (p.Pro665=)	3718	JAK3	Benign	3212768	RCV000639638;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945944	17945944	19:g.17945944G>A	ClinGen:CA9301706	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1992G>A (p.Pro664=)	3718	JAK3	Likely benign	200499852	RCV001435424;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945947	17945947	17945947	-
NM_000215.4(JAK3):c.1991C>T (p.Pro664Leu)	3718	JAK3	Uncertain significance	373027121	RCV000811970;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945948	17945948	19:g.17945948G>A	-
NM_000215.4(JAK3):c.1990C>A (p.Pro664Thr)	3718	JAK3	Likely benign	575352564	RCV001307501;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945949	17945949	17945949	-
NM_000215.4(JAK3):c.1971G>A (p.Arg657=)	3718	JAK3	Likely benign	753209740	RCV002126727;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945968	17945968	17945968	-
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln)	3718	JAK3	Uncertain significance	758959409	RCV000419268\|RCV000426476\|RCV002524691;	N	Human Phenotype Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462, Orphanet:518\|MONDO:MONDO:0006829,MeSH:D007955,MedGen:C0023501\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945969	17945969	19:g.17945969C>T	ClinGen:CA16602572	C0023462 Acute megakaryoblastic leukemia;
NM_000215.4(JAK3):c.1969C>T (p.Arg657Trp)	3718	JAK3	Uncertain significance	1568403015	RCV000688591;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945970	17945970	NC_000019.9:g.17945970G>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1965G>A (p.Leu655=)	3718	JAK3	Likely benign	199607834	RCV001472803;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945974	17945974	17945974	-
NM_000215.4(JAK3):c.1953G>C (p.Arg651=)	3718	JAK3	Likely benign	-1	RCV002928996;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17945986	17945986		-
NM_000215.4(JAK3):c.1933C>T (p.His645Tyr)	3718	JAK3	Uncertain significance	201479407	RCV000639631;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946006	17946006	19:g.17946006G>A	ClinGen:CA306130285	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)	3718	JAK3	Conflicting interpretations of pathogenicity	138645044	RCV000589741\|RCV001084351;	N	MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946010	17946010	NC_000019.9:g.17946010C>T	ClinGen:CA9301717	CN517202 not provided;
NM_000215.4(JAK3):c.1924G>C (p.Gly642Arg)	3718	JAK3	Uncertain significance	1435749725	RCV001303195;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946015	17946015	17946015	-
NM_000215.4(JAK3):c.1915-1G>A	3718	JAK3	Uncertain significance	-1	RCV002909292;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946025	17946025	NC_000019.9:g.17946025C>T	-
NM_000215.4(JAK3):c.1915-10G>A	3718	JAK3	Likely benign	-1	RCV002591799;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946034	17946034	NC_000019.9:g.17946034C>T	-
NM_000215.4(JAK3):c.1915-20C>T	3718	JAK3	Benign	564212195	RCV002129653;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946044	17946044	17946044	-
NM_000215.4(JAK3):c.1914+17C>T	3718	JAK3	Likely benign	2147684071	RCV002210796;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946716	17946716	17946716	-
NM_000215.4(JAK3):c.1914+10C>T	3718	JAK3	Benign/Likely benign	200964315	RCV000957461\|RCV001664573;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN517202	19	17946723	17946723	19:g.17946723G>A	-
NM_000215.4(JAK3):c.1914+1G>A	3718	JAK3	Likely pathogenic	936493226	RCV001060194;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946732	17946732	19:g.17946732C>T	-
NM_000215.4(JAK3):c.1912C>G (p.Leu638Val)	3718	JAK3	Uncertain significance	757311496	RCV001056015;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946735	17946735	19:g.17946735G>C	-
NM_000215.4(JAK3):c.1907A>G (p.Asn636Ser)	3718	JAK3	Uncertain significance	-1	RCV002766399;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946740	17946740	NC_000019.9:g.17946740T>C	-
NM_000215.4(JAK3):c.1899C>T (p.Tyr633=)	3718	JAK3	Likely benign	538081227	RCV000423771\|RCV002059928;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946748	17946748	19:g.17946748G>A	ClinGen:CA9301738	CN169374 not specified;
NM_000215.4(JAK3):c.1896C>G (p.Ala632=)	3718	JAK3	Likely benign	-1	RCV003042918;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946751	17946751		-
NM_000215.4(JAK3):c.1890G>A (p.Gln630=)	3718	JAK3	Benign/Likely benign	193922363	RCV000030089\|RCV000872867;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946757	17946757	19:g.17946757C>T	ClinGen:CA214085	C0085110 Severe combined immunodeficiency disease;
NM_000215.4(JAK3):c.1878G>C (p.Gln626His)	3718	JAK3	Uncertain significance	2147684176	RCV001878759;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946769	17946769	17946769	-
NM_000215.4(JAK3):c.1860A>C (p.Pro620=)	3718	JAK3	Likely benign	2147684222	RCV002152831;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946787	17946787	17946787	-
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys)	3718	JAK3	Benign/Likely benign	200075643	RCV000121258\|RCV000872868;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946804	17946804	19:g.17946804G>A	ClinGen:CA160213	CN169374 not specified;
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)	3718	JAK3	Pathogenic	149316157	RCV000798169;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946810	17946810	19:g.17946810G>A	-
NM_000215.4(JAK3):c.1829T>C (p.Met610Thr)	3718	JAK3	Uncertain significance	896905338	RCV001917441;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946818	17946818	17946818	-
NM_000215.4(JAK3):c.1822A>G (p.Ile608Val)	3718	JAK3	Uncertain significance	-1	RCV002976446;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946825	17946825	NC_000019.9:g.17946825T>C	-
NM_000215.4(JAK3):c.1805T>C (p.Phe602Ser)	3718	JAK3	Uncertain significance	147408277	RCV001309386;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946842	17946842	17946842	-
NM_000215.4(JAK3):c.1796T>G (p.Val599Gly)	3718	JAK3	Uncertain significance	1568403355	RCV003396332;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946851	17946851	NC_000019.9:g.17946851A>C	ClinVar:624581
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile)	3718	JAK3	Uncertain significance	138143146	RCV001059677\|RCV002521197\|RCV003418035;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	19	17946853	17946853	NC_000019.9:g.17946853C>G	ClinGen:CA9301749	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1787-4C>T	3718	JAK3	Likely benign	2147684406	RCV001472195;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946864	17946864	17946864	-
NM_000215.4(JAK3):c.1787-11dup	3718	JAK3	Benign	397839895	RCV001653596\|RCV001521144\|RCV001731606;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660	19	17946870	17946871	NC_000019.9:g.17946871dup	ClinGen:CA9301753	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1787-15C>A	3718	JAK3	Likely benign	-1	RCV002847404;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946875	17946875	NC_000019.9:g.17946875G>T	-
NM_000215.4(JAK3):c.1787-19T>C	3718	JAK3	Likely benign	-1	RCV003043253;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17946879	17946879	NC_000019.9:g.17946879A>G	-
NM_000215.4(JAK3):c.1786+13dup	3718	JAK3	Benign	761961495	RCV002076600;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947924	17947925	17947924	-
NM_000215.4(JAK3):c.1786+13C>T	3718	JAK3	Conflicting interpretations of pathogenicity	781208496	RCV001122756;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947925	17947925	19:g.17947925G>A	-
NM_000215.4(JAK3):c.1786+8C>G	3718	JAK3	Likely benign	-1	RCV002651387;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947930	17947930	NC_000019.9:g.17947930G>C	-
NM_000215.4(JAK3):c.1786+7G>A	3718	JAK3	Likely benign	1011716310	RCV001454863;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947931	17947931	17947931	-
NM_000215.4(JAK3):c.1786+6A>T	3718	JAK3	Likely benign	372156975	RCV000875054;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947932	17947932	19:g.17947932T>A	-
NM_000215.4(JAK3):c.1768G>A (p.Val590Met)	3718	JAK3	Uncertain significance	1040476469	RCV001240385;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947956	17947956	19:g.17947956C>T	-
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)	3718	JAK3	Conflicting interpretations of pathogenicity	193922362	RCV000030088\|RCV000256129\|RCV001781323;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947957	17947957	19:g.17947957G>A	ClinGen:CA214082	CN517202 not provided;
NM_000215.4(JAK3):c.1764C>T (p.His588=)	3718	JAK3	Likely benign	201482851	RCV001478153;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947960	17947960	17947960	-
NM_000215.4(JAK3):c.1763A>C (p.His588Pro)	3718	JAK3	Uncertain significance	1207883288	RCV001306634;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947961	17947961	17947961	-
NM_000215.4(JAK3):c.1755G>T (p.Val585=)	3718	JAK3	Likely benign	-1	RCV002586543;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947969	17947969		-
NM_000215.4(JAK3):c.1753G>A (p.Val585Met)	3718	JAK3	Uncertain significance	199600889	RCV001341188;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947971	17947971	17947971	-
NM_000215.4(JAK3):c.1752C>T (p.Leu584=)	3718	JAK3	Likely benign	200582253	RCV000903068;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947972	17947972	19:g.17947972G>A	-
NM_000215.4(JAK3):c.1745G>A (p.Arg582Gln)	3718	JAK3	Uncertain significance	-1	RCV003071031;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947979	17947979	NC_000019.9:g.17947979C>T	-
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)	3718	JAK3	Likely pathogenic	193922361	RCV000030087\|RCV001852597;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947980	17947980	19:g.17947980G>A	ClinGen:CA214079,UniProtKB:P52333#VAR_010494	C0085110 Severe combined immunodeficiency disease;
NM_000215.4(JAK3):c.1740G>A (p.Ser580=)	3718	JAK3	Likely benign	143605793	RCV001498547;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947984	17947984	17947984	-
NM_000215.4(JAK3):c.1739C>G (p.Ser580Trp)	3718	JAK3	Uncertain significance	587778414	RCV001900217;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17947985	17947985	17947985	-
NM_000215.4(JAK3):c.1719G>T (p.Ala573=)	3718	JAK3	Likely benign	201371931	RCV001449342;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948005	17948005	17948005	-
NM_000215.4(JAK3):c.1710G>A (p.Leu570=)	3718	JAK3	Benign	3212755	RCV000639637;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948014	17948014	19:g.17948014C>T	ClinGen:CA9301803	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1701+9A>G	3718	JAK3	Benign	3212752	RCV000125433\|RCV000306012;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948732	17948732	NC_000019.9:g.17948732T>C	ClinGen:CA291256	CN169374 not specified;
NM_000215.4(JAK3):c.1701+6A>G	3718	JAK3	Uncertain significance	-1	RCV003108892;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948735	17948735	NC_000019.9:g.17948735T>C	-
NM_000215.4(JAK3):c.1701+2T>A	3718	JAK3	Pathogenic	2147687373	RCV002040505;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948739	17948739	17948739	-
NM_000215.4(JAK3):c.1701+1G>A	3718	JAK3	Pathogenic	-1	RCV003061875;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948740	17948740	NC_000019.9:g.17948740C>T	-
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)	3718	JAK3	Pathogenic	137852625	RCV000009957;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948747	17948747	19:g.17948747G>T	ClinGen:CA120303,OMIM:600173.0004	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)	3718	JAK3	Pathogenic	1599873591	RCV000797112;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948749	17948754	19:g.17948749_17948750insCTCACCTCCA	-
NM_000215.4(JAK3):c.1684C>T (p.His562Tyr)	3718	JAK3	Uncertain significance	-1	RCV003092587;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948758	17948758	NC_000019.9:g.17948758G>A	-
NM_000215.4(JAK3):c.1683G>A (p.Lys561=)	3718	JAK3	Likely benign	2094228255	RCV002177942;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948759	17948759	17948759	-
NM_000215.4(JAK3):c.1679C>G (p.Ala560Gly)	3718	JAK3	Uncertain significance	886054279	RCV000360756;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948763	17948763	NC_000019.9:g.17948763G>C	ClinGen:CA10642433	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1678G>T (p.Ala560Ser)	3718	JAK3	Uncertain significance	771634723	RCV000268809;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948764	17948764	NC_000019.9:g.17948764C>A	ClinGen:CA10651625	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1678G>A (p.Ala560Thr)	3718	JAK3	Uncertain significance	771634723	RCV000706676;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948764	17948764	NC_000019.9:g.17948764C>T	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1673T>C (p.Met558Thr)	3718	JAK3	Uncertain significance	777252992	RCV001874684;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948769	17948769	17948769	-
NM_000215.4(JAK3):c.1672A>G (p.Met558Val)	3718	JAK3	Uncertain significance	200993230	RCV001300177;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948770	17948770	17948770	-
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)	3718	JAK3	Conflicting interpretations of pathogenicity	201698409	RCV000873040;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948789	17948789	NC_000019.9:g.17948789T>C	ClinGen:CA9301824	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1646G>A (p.Arg549Gln)	3718	JAK3	Uncertain significance	201972084	RCV001122757;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948796	17948796	19:g.17948796C>T	-
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)	3718	JAK3	Pathogenic	1011307501	RCV000990183;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948797	17948797	19:g.17948797G>A	-
NM_000215.4(JAK3):c.1644C>T (p.Ala548=)	3718	JAK3	Likely benign	764363104	RCV002533242;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948798	17948798	NC_000019.9:g.17948798G>A	ClinGen:CA9301825	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1633G>C (p.Asp545His)	3718	JAK3	Uncertain significance	2147687557	RCV001996250;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948809	17948809	17948809	-
NM_000215.4(JAK3):c.1632G>T (p.Val544=)	3718	JAK3	Likely benign	779887883	RCV001421664;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948810	17948810	19:g.17948810C>A	-
NM_000215.4(JAK3):c.1631T>C (p.Val544Ala)	3718	JAK3	Uncertain significance	1367182709	RCV000802809;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948811	17948811	19:g.17948811A>G	-
NM_000215.4(JAK3):c.1622A>T (p.His541Leu)	3718	JAK3	Uncertain significance	148777897	RCV000818327;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948820	17948820	19:g.17948820T>A	-
NM_000215.4(JAK3):c.1618C>T (p.Arg540Cys)	3718	JAK3	Uncertain significance	747854515	RCV001211427;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948824	17948824	19:g.17948824G>A	-
NM_000215.4(JAK3):c.1609C>T (p.Arg537Trp)	3718	JAK3	Uncertain significance	746305522	RCV001123843;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948833	17948833	19:g.17948833G>A	-
NM_000215.4(JAK3):c.1586A>G (p.His529Arg)	3718	JAK3	Uncertain significance	142805245	RCV001052563;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948856	17948856	19:g.17948856T>C	-
NM_000215.4(JAK3):c.1583G>A (p.Gly528Asp)	3718	JAK3	Likely pathogenic	-1	RCV003236629;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17948859	17948859		-
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)	3718	JAK3	Conflicting interpretations of pathogenicity	3213408	RCV000533897\|RCV001702796;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17948861	17948861	NC_000019.9:g.17948861C>T	ClinGen:CA9301841	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1569+15G>T	3718	JAK3	Likely benign	-1	RCV003016808;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949057	17949057	NC_000019.9:g.17949057C>A	-
NM_000215.4(JAK3):c.1569+14G>A	3718	JAK3	Likely benign	200624424	RCV002089954;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949058	17949058	17949058	-
NM_000215.4(JAK3):c.1567T>G (p.Trp523Gly)	3718	JAK3	Uncertain significance	199635089	RCV001984927;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949074	17949074	17949074	-
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer)	3718	JAK3	Pathogenic	1568404443	RCV000687336;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949077	17949080	NC_000019.9:g.17949077_17949080delinsGTCA	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1561C>G (p.Leu521Val)	3718	JAK3	Uncertain significance	55666418	RCV000121255\|RCV001225410;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949080	17949080	19:g.17949080G>C	ClinGen:CA160204,UniProtKB:P52333#VAR_041724	CN169374 not specified;
NM_000215.4(JAK3):c.1551T>A (p.Pro517=)	3718	JAK3	Conflicting interpretations of pathogenicity	143936463	RCV000877014\|RCV003409522;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17949090	17949090	NC_000019.9:g.17949090A>T	ClinGen:CA9301864	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1550C>T (p.Pro517Leu)	3718	JAK3	Uncertain significance	759375144	RCV000272194;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949091	17949091	NC_000019.9:g.17949091G>A	ClinGen:CA9301865	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1548C>T (p.Ile516=)	3718	JAK3	Benign	144203232	RCV000560002;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949093	17949093	NC_000019.9:g.17949093G>A	ClinGen:CA9301866	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1547T>A (p.Ile516Asn)	3718	JAK3	Uncertain significance	2094229284	RCV001253611;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949094	17949094	19:g.17949094A>T	-
NM_000215.4(JAK3):c.1529A>G (p.Gln510Arg)	3718	JAK3	Uncertain significance	762398167	RCV001897612;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949112	17949112	17949112	-
NM_000215.4(JAK3):c.1528C>A (p.Gln510Lys)	3718	JAK3	Uncertain significance	-1	RCV002736777;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949113	17949113	NC_000019.9:g.17949113G>T	-
NM_000215.4(JAK3):c.1514A>G (p.Gln505Arg)	3718	JAK3	Uncertain significance	2094229344	RCV001221751;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949127	17949127	19:g.17949127T>C	-
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)	3718	JAK3	Uncertain significance	201283129	RCV000419033\|RCV000436281\|RCV001204387\|RCV001174965;	N	MONDO:MONDO:0006829,MeSH:D007955,MedGen:C0023501\|Human Phenotype Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462, Orphanet:518\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN169374	19	17949138	17949138	19:g.17949138C>A	ClinGen:CA9301872	C0023462 Acute megakaryoblastic leukemia;
NM_000215.4(JAK3):c.1498G>A (p.Val500Ile)	3718	JAK3	Uncertain significance	2094229434	RCV001349586;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949143	17949143	17949143	-
NM_000215.4(JAK3):c.1485C>T (p.Pro495=)	3718	JAK3	Likely benign	-1	RCV002664121;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949156	17949156		-
NM_000215.4(JAK3):c.1483C>T (p.Pro495Ser)	3718	JAK3	Uncertain significance	2094229513	RCV001326910;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949158	17949158	17949158	-
NM_000215.4(JAK3):c.1471G>C (p.Gly491Arg)	3718	JAK3	Uncertain significance	200112185	RCV000639630;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949170	17949170	NC_000019.9:g.17949170C>G	ClinGen:CA9301873	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1463T>G (p.Val488Gly)	3718	JAK3	Uncertain significance	2094229597	RCV001042413;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949178	17949178	19:g.17949178A>C	-
NM_000215.4(JAK3):c.1459G>A (p.Val487Met)	3718	JAK3	Uncertain significance	2147689016	RCV002023511\|RCV003331274;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17949182	17949182	17949182	-
NM_000215.4(JAK3):c.1458C>T (p.Ile486=)	3718	JAK3	Likely benign	1297346398	RCV001449268;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949183	17949183	17949183	-
NM_000215.4(JAK3):c.1453C>T (p.Leu485=)	3718	JAK3	Benign	55883965	RCV000388714;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949188	17949188	NC_000019.9:g.17949188G>A	ClinGen:CA9301874	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.1442-5C>T	3718	JAK3	Benign	3212750	RCV000125432\|RCV000544769;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17949204	17949204	NC_000019.9:g.17949204G>A	ClinGen:CA291255	CN169374 not specified;
NM_000215.4(JAK3):c.1441+19T>C	3718	JAK3	Likely benign	1204641842	RCV002216770;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950267	17950267	17950267	-
NM_000215.4(JAK3):c.1441+16C>T	3718	JAK3	Likely benign	-1	RCV003020232;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950270	17950270	NC_000019.9:g.17950270G>A	-
NM_000215.4(JAK3):c.1441+15C>T	3718	JAK3	Likely benign	-1	RCV002858496;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950271	17950271	NC_000019.9:g.17950271G>A	-
NM_000215.4(JAK3):c.1403C>T (p.Ala468Val)	3718	JAK3	Uncertain significance	2147691045	RCV001942365;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950324	17950324	17950324	-
NM_000215.4(JAK3):c.1389C>A (p.His463Gln)	3718	JAK3	Uncertain significance	201132330	RCV001322202;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950338	17950338	17950338	-
NM_000215.4(JAK3):c.1389C>T (p.His463=)	3718	JAK3	Likely benign	201132330	RCV001498049;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950338	17950338	17950338	-
NM_000215.4(JAK3):c.1389C>G (p.His463Gln)	3718	JAK3	Uncertain significance	-1	RCV002871199;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950338	17950338	NC_000019.9:g.17950338G>C	-
NM_000215.4(JAK3):c.1383dup (p.Leu462fs)	3718	JAK3	Pathogenic	2147691124	RCV001927770;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950343	17950344	17950343	-
NM_000215.4(JAK3):c.1379G>A (p.Gly460Glu)	3718	JAK3	Uncertain significance	199659728	RCV002051452;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950348	17950348	17950348	-
NM_000215.4(JAK3):c.1371C>T (p.Cys457=)	3718	JAK3	Likely benign	200197702	RCV002135874;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950356	17950356	17950356	-
NM_000215.4(JAK3):c.1361T>C (p.Leu454Pro)	3718	JAK3	Uncertain significance	-1	RCV003067033;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950366	17950366	NC_000019.9:g.17950366A>G	-
NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln)	3718	JAK3	Likely benign	145751599	RCV000121254\|RCV001244055\|RCV001725976;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17950375	17950375	19:g.17950375C>T	ClinGen:CA160201	CN169374 not specified;
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)	3718	JAK3	Pathogenic	267605358	RCV001090553\|RCV001203764\|RCV003230392;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660	19	17950376	17950376	19:g.17950376G>A	-
NM_000215.4(JAK3):c.1341C>T (p.His447=)	3718	JAK3	Likely benign	2147691249	RCV001460283;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950386	17950386	17950386	-
NM_000215.4(JAK3):c.1340A>G (p.His447Arg)	3718	JAK3	Uncertain significance	-1	RCV002721231;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950387	17950387	NC_000019.9:g.17950387T>C	-
NM_000215.4(JAK3):c.1334G>A (p.Arg445Gln)	3718	JAK3	Uncertain significance	-1	RCV002610122;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950393	17950393	NC_000019.9:g.17950393C>T	-
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)	3718	JAK3	Pathogenic	137852626	RCV000009958;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950394	17950394	19:g.17950394G>A	ClinGen:CA120306,OMIM:600173.0005	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.1315C>T (p.Leu439Phe)	3718	JAK3	Uncertain significance	-1	RCV002594645;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950412	17950412	NC_000019.9:g.17950412G>A	-
NM_000215.4(JAK3):c.1305A>G (p.Thr435=)	3718	JAK3	Likely benign	-1	RCV002966300;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950422	17950422		-
NM_000215.4(JAK3):c.1304C>T (p.Thr435Ile)	3718	JAK3	Uncertain significance	-1	RCV003076965;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950423	17950423	NC_000019.9:g.17950423G>A	-
NM_000215.4(JAK3):c.1295G>A (p.Arg432His)	3718	JAK3	Uncertain significance	-1	RCV003093318;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950432	17950432	NC_000019.9:g.17950432C>T	-
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp)	3718	JAK3	Uncertain significance	1274345651	RCV000509260\|RCV002527379;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950436	17950436	NC_000019.9:g.17950436G>A	ClinGen:CA404770421	C0085110 Severe combined immunodeficiency disease;
NM_000215.4(JAK3):c.1266T>A (p.Gly422=)	3718	JAK3	Likely benign	754562580	RCV001474213;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950461	17950461	19:g.17950461A>T	-
NM_000215.4(JAK3):c.1262T>G (p.Leu421Arg)	3718	JAK3	Uncertain significance	535740127	RCV001934832;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950465	17950465	17950465	-
NM_000215.4(JAK3):c.1255-19_1255-17dup	3718	JAK3	Benign	749079957	RCV002212236;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17950488	17950489	17950488	-
NM_000215.4(JAK3):c.1254+20G>A	3718	JAK3	Benign	3212742	RCV001516705\|RCV001647307;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17951019	17951019	17951019	-
NM_000215.4(JAK3):c.1254+9A>G	3718	JAK3	Likely benign	1000957625	RCV001489310;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951030	17951030	19:g.17951030T>C	-
NM_000215.4(JAK3):c.1254+5G>C	3718	JAK3	Uncertain significance	2147692649	RCV001374219;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951034	17951034	17951034	-
NM_000215.4(JAK3):c.1254+4G>A	3718	JAK3	Uncertain significance	200084748	RCV001366445;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951035	17951035	17951035	-
NM_000215.4(JAK3):c.1254+2T>A	3718	JAK3	Pathogenic	2147692665	RCV001783497;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951037	17951037	17951037	-
NM_000215.4(JAK3):c.1252C>G (p.Gln418Glu)	3718	JAK3	Uncertain significance	2147692670	RCV001929815;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951041	17951041	17951041	-
NM_000215.4(JAK3):c.1214C>T (p.Pro405Leu)	3718	JAK3	Uncertain significance	1267642970	RCV001229847;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951079	17951079	19:g.17951079G>A	-
NM_000215.4(JAK3):c.1208G>A (p.Arg403His)	3718	JAK3	Likely pathogenic	1599876167	RCV000990184;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951085	17951085	19:g.17951085C>T	-
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)	3718	JAK3	Likely pathogenic	-1	RCV003064566;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951086	17951086	NC_000019.9:g.17951086G>A	-
NM_000215.4(JAK3):c.1196A>G (p.Tyr399Cys)	3718	JAK3	Uncertain significance	201199447	RCV001955863;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951097	17951097	17951097	-
NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu)	3718	JAK3	Benign	149047410	RCV000121276\|RCV001511367;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951106	17951106	19:g.17951106G>A	ClinGen:CA160267	CN169374 not specified;
NM_000215.4(JAK3):c.1185T>C (p.Arg395=)	3718	JAK3	Likely benign	-1	RCV002881374;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951108	17951108		-
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)	3718	JAK3	Conflicting interpretations of pathogenicity	143038064	RCV001126489;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951109	17951109	19:g.17951109C>T	-
NM_000215.4(JAK3):c.1178dup (p.Ser394fs)	3718	JAK3	Pathogenic	2094235007	RCV001946944;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951114	17951115	17951114	OMIM:600173.0003
NM_000215.4(JAK3):c.1153G>T (p.Ala385Ser)	3718	JAK3	Uncertain significance	968177323	RCV001874982;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17951140	17951140	17951140	-
NC_000019.9:g.(?_17952178)_(17955226_?)dup	3718	JAK3	Uncertain significance	-1	RCV003122184;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952178	17955226		-
NM_000215.4(JAK3):c.1142+16C>T	3718	JAK3	Likely benign	-1	RCV002786414;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952182	17952182	NC_000019.9:g.17952182G>A	-
NM_000215.4(JAK3):c.1142+13C>A	3718	JAK3	Benign	3212733	RCV000125440\|RCV000296653;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952185	17952185	NC_000019.9:g.17952185G>T	ClinGen:CA291264	CN169374 not specified;
NM_000215.4(JAK3):c.1142+1G>C	3718	JAK3	Pathogenic	1232129873	RCV001388282;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952197	17952197	17952197	-
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn)	3718	JAK3	Uncertain significance	373046546	RCV000121274\|RCV000799555;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952198	17952198	19:g.17952198G>T	ClinGen:CA160261	CN169374 not specified;
NM_000215.4(JAK3):c.1140C>T (p.Ile380=)	3718	JAK3	Likely benign	910451747	RCV001440043;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952200	17952200	17952200	-
NM_000215.4(JAK3):c.1131C>T (p.His377=)	3718	JAK3	Benign/Likely benign	55802448	RCV000435655\|RCV000556231;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952209	17952209	19:g.17952209G>A	ClinGen:CA9301985	CN169374 not specified;
NM_000215.4(JAK3):c.1120G>C (p.Glu374Gln)	3718	JAK3	Uncertain significance	769243134	RCV002041837;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952220	17952220	17952220	-
NM_000215.4(JAK3):c.1120G>A (p.Glu374Lys)	3718	JAK3	Uncertain significance	-1	RCV002716464;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952220	17952220	NC_000019.9:g.17952220C>T	-
NM_000215.4(JAK3):c.1114G>A (p.Val372Met)	3718	JAK3	Uncertain significance	1360733708	RCV001973076;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952226	17952226	17952226	-
NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys)	3718	JAK3	Uncertain significance	200631515	RCV001329704;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952232	17952232	17952232	-
NM_000215.4(JAK3):c.1106T>C (p.Leu369Pro)	3718	JAK3	Likely pathogenic	-1	RCV003236634;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952234	17952234		-
NM_000215.4(JAK3):c.1083G>C (p.Lys361Asn)	3718	JAK3	Uncertain significance	2094238493	RCV001349452;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952257	17952257	17952257	-
NM_000215.4(JAK3):c.1080C>T (p.Cys360=)	3718	JAK3	Uncertain significance	564076549	RCV000807745;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952260	17952260	19:g.17952260G>A	-
NM_000215.4(JAK3):c.1079G>T (p.Cys360Phe)	3718	JAK3	Uncertain significance	945125325	RCV001874261;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952261	17952261	17952261	-
NM_000215.4(JAK3):c.1073T>G (p.Phe358Cys)	3718	JAK3	Uncertain significance	200863318	RCV000792084;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952267	17952267	19:g.17952267A>C	-
NM_000215.4(JAK3):c.1073T>A (p.Phe358Tyr)	3718	JAK3	Uncertain significance	-1	RCV003028118;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952267	17952267	NC_000019.9:g.17952267A>T	-
NM_000215.4(JAK3):c.1059G>T (p.Thr353=)	3718	JAK3	Likely benign	-1	RCV002795406;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952281	17952281		-
NM_000215.4(JAK3):c.1047C>T (p.Phe349=)	3718	JAK3	Likely benign	748541941	RCV001477817;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952293	17952293	17952293	-
NM_000215.4(JAK3):c.1030C>A (p.Leu344Ile)	3718	JAK3	Uncertain significance	1309733826	RCV000797067;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952310	17952310	19:g.17952310G>T	-
NM_000215.4(JAK3):c.1023C>T (p.Phe341=)	3718	JAK3	Likely benign	140073972	RCV002080152;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952317	17952317	17952317	-
NM_000215.4(JAK3):c.1020G>A (p.Ser340=)	3718	JAK3	Benign	201997916	RCV001519301;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952320	17952320	19:g.17952320C>T	-
NM_000215.4(JAK3):c.1005G>A (p.Leu335=)	3718	JAK3	Likely benign	202231447	RCV000959544;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952335	17952335	19:g.17952335C>T	-
NM_000215.4(JAK3):c.993G>A (p.Glu331=)	3718	JAK3	Likely benign	-1	RCV002727110;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952347	17952347		-
NM_000215.4(JAK3):c.985-11G>T	3718	JAK3	Likely benign	-1	RCV002611072;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952366	17952366	NC_000019.9:g.17952366C>A	-
NM_000215.4(JAK3):c.985-17A>G	3718	JAK3	Likely benign	-1	RCV002651061;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952372	17952372	NC_000019.9:g.17952372T>C	-
NM_000215.4(JAK3):c.984+11G>T	3718	JAK3	Likely benign	756102540	RCV002096877;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952438	17952438	17952438	-
NM_000215.4(JAK3):c.982T>A (p.Leu328Ile)	3718	JAK3	Uncertain significance	1418117194	RCV001035996;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952451	17952451	19:g.17952451A>T	-
NM_000215.4(JAK3):c.976C>A (p.Gln326Lys)	3718	JAK3	Uncertain significance	-1	RCV002667900;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952457	17952457	NC_000019.9:g.17952457G>T	-
NM_000215.4(JAK3):c.971A>T (p.Asp324Val)	3718	JAK3	Uncertain significance	1291046706	RCV001331072;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952462	17952462	17952462	-
NM_000215.4(JAK3):c.947G>A (p.Arg316His)	3718	JAK3	Uncertain significance	778229078	RCV001062681;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952486	17952486	19:g.17952486C>T	-
NM_000215.4(JAK3):c.944A>G (p.His315Arg)	3718	JAK3	Uncertain significance	2094239321	RCV001312457;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952489	17952489	17952489	-
NM_000215.4(JAK3):c.941A>G (p.Glu314Gly)	3718	JAK3	Uncertain significance	-1	RCV003045014;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952492	17952492	NC_000019.9:g.17952492T>C	-
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)	3718	JAK3	Conflicting interpretations of pathogenicity	200319694	RCV000908683;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952495	17952495	19:g.17952495C>T	-
NM_000215.4(JAK3):c.932C>T (p.Pro311Leu)	3718	JAK3	Uncertain significance	781705937	RCV001335179\|RCV002546718;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MeSH:D030342,MedGen:C0950123	19	17952501	17952501	17952501	-
NM_000215.4(JAK3):c.926T>C (p.Val309Ala)	3718	JAK3	Uncertain significance	2094239394	RCV001971495;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952507	17952507	17952507	-
NM_000215.4(JAK3):c.918C>G (p.Ala306=)	3718	JAK3	Likely benign	775577056	RCV002169507;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952515	17952515	17952515	-
NM_000215.4(JAK3):c.915G>C (p.Gln305His)	3718	JAK3	Uncertain significance	200731212	RCV001983511;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952518	17952518	17952518	-
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)	3718	JAK3	Pathogenic/Likely pathogenic	786205517	RCV000171280\|RCV001331071;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952520	17952520	19:g.17952520G>A	ClinGen:CA236015	CN517202 not provided;
NM_000215.4(JAK3):c.905G>A (p.Ser302Asn)	3718	JAK3	Uncertain significance	751055857	RCV001980199;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952528	17952528	17952528	-
NM_000215.4(JAK3):c.898G>A (p.Asp300Asn)	3718	JAK3	Uncertain significance	1216814401	RCV001863279;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952535	17952535	17952535	-
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)	3718	JAK3	Uncertain significance	571404212	RCV001126490;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952537	17952537	19:g.17952537A>G	-
NM_000215.4(JAK3):c.870G>T (p.Gln290His)	3718	JAK3	Uncertain significance	2147695669	RCV001962593;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952563	17952563	17952563	-
NM_000215.4(JAK3):c.862-5C>A	3718	JAK3	Likely benign	2147695701	RCV001487395;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952576	17952576	17952576	-
NM_000215.4(JAK3):c.862-11dup	3718	JAK3	Benign	-1	RCV002645669;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952581	17952582	NC_000019.9:g.17952586dup	-
NM_000215.4(JAK3):c.862-11C>A	3718	JAK3	Likely benign	752415312	RCV002143659;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952582	17952582	17952582	-
NM_000215.4(JAK3):c.862-15C>G	3718	JAK3	Likely benign	1335495836	RCV002188132;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952586	17952586	17952586	-
NM_000215.4(JAK3):c.862-17C>T	3718	JAK3	Likely benign	966548994	RCV002204368;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17952588	17952588	17952588	-
NM_000215.4(JAK3):c.861+9G>T	3718	JAK3	Likely benign	779139433	RCV002111931;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953116	17953116	17953116	-
NM_000215.4(JAK3):c.861+6G>A	3718	JAK3	Uncertain significance	748305273	RCV002012742;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953119	17953119	17953119	-
NM_000215.4(JAK3):c.859G>A (p.Glu287Lys)	3718	JAK3	Uncertain significance	776551276	RCV001320313;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953127	17953127	17953127	-
NM_000215.4(JAK3):c.850G>C (p.Gly284Arg)	3718	JAK3	Uncertain significance	-1	RCV002780217;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953136	17953136	NC_000019.9:g.17953136C>G	-
NM_000215.4(JAK3):c.843G>C (p.Trp281Cys)	3718	JAK3	Uncertain significance	587778419	RCV000121272\|RCV001854632;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953143	17953143	19:g.17953143C>G	ClinGen:CA160255	CN169374 not specified;
NM_000215.4(JAK3):c.838G>T (p.Ala280Ser)	3718	JAK3	Uncertain significance	-1	RCV002659535;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953148	17953148	NC_000019.9:g.17953148C>A	-
NM_000215.4(JAK3):c.829G>A (p.Gly277Ser)	3718	JAK3	Uncertain significance	-1	RCV002742027;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953157	17953157	NC_000019.9:g.17953157C>T	-
NM_000215.4(JAK3):c.828C>A (p.Asp276Glu)	3718	JAK3	Uncertain significance	569160156	RCV000817421;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953158	17953158	19:g.17953158G>T	-
NM_000215.4(JAK3):c.806G>A (p.Gly269Glu)	3718	JAK3	Uncertain significance	-1	RCV003028017;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953180	17953180	NC_000019.9:g.17953180C>T	-
NM_000215.4(JAK3):c.805G>A (p.Gly269Arg)	3718	JAK3	Uncertain significance	766895335	RCV001932332;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953181	17953181	17953181	-
NM_000215.4(JAK3):c.773_775del (p.Leu258del)	3718	JAK3	Uncertain significance	-1	RCV002676996;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953211	17953213	NC_000019.9:g.17953213_17953215del	-
NM_000215.4(JAK3):c.757A>G (p.Thr253Ala)	3718	JAK3	Uncertain significance	-1	RCV003067723\|RCV003083506;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MeSH:D030342,MedGen:C0950123	19	17953229	17953229	NC_000019.9:g.17953229T>C	-
NM_000215.4(JAK3):c.749C>T (p.Ala250Val)	3718	JAK3	Uncertain significance	1286914027	RCV001863684;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953237	17953237	17953237	-
NM_000215.4(JAK3):c.744C>G (p.Ala248=)	3718	JAK3	Likely benign	-1	RCV003095693\|RCV003410088;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17953242	17953242		-
NM_000215.4(JAK3):c.744C>T (p.Ala248=)	3718	JAK3	Likely benign	-1	RCV002790969;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953242	17953242		-
NM_000215.4(JAK3):c.740C>T (p.Pro247Leu)	3718	JAK3	Uncertain significance	761196525	RCV001885435;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953246	17953246	17953246	-
NM_000215.4(JAK3):c.718A>G (p.Met240Val)	3718	JAK3	Uncertain significance	-1	RCV002690736;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953268	17953268	NC_000019.9:g.17953268T>C	-
NM_000215.4(JAK3):c.698C>G (p.Ser233Trp)	3718	JAK3	Uncertain significance	941028266	RCV001981275;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953288	17953288	17953288	-
NM_000215.4(JAK3):c.696C>T (p.His232=)	3718	JAK3	Conflicting interpretations of pathogenicity	199902822	RCV000539286;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953290	17953290	NC_000019.9:g.17953290G>A	ClinGen:CA9302102	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)	3718	JAK3	Pathogenic	193922364	RCV000030095\|RCV000255037\|RCV002051797;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953307	17953308	19:g.17953307_17953308del	ClinGen:CA214096	CN517202 not provided;
NM_000215.4(JAK3):c.678C>G (p.Ala226=)	3718	JAK3	Likely benign	2147697716	RCV002138925;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953308	17953308	17953308	-
NM_000215.4(JAK3):c.668G>A (p.Arg223His)	3718	JAK3	Uncertain significance	-1	RCV002740657\|RCV003427498;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17953318	17953318	NC_000019.9:g.17953318C>T	-
NM_000215.4(JAK3):c.665G>A (p.Arg222His)	3718	JAK3	Likely benign	199868795	RCV001433206;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953321	17953321	17953321	-
NM_000215.4(JAK3):c.657A>G (p.Arg219=)	3718	JAK3	Likely benign	1236808333	RCV002176488;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953329	17953329	17953329	-
NM_000215.4(JAK3):c.653G>T (p.Arg218Leu)	3718	JAK3	Uncertain significance	201460834	RCV000804636;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953333	17953333	19:g.17953333C>A	-
NM_000215.4(JAK3):c.649G>A (p.Val217Met)	3718	JAK3	Conflicting interpretations of pathogenicity	202167678	RCV000316761;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953337	17953337	NC_000019.9:g.17953337C>T	ClinGen:CA9302108	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.648G>T (p.Thr216=)	3718	JAK3	Uncertain significance	200376035	RCV000373698;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953338	17953338	NC_000019.9:g.17953338C>A	ClinGen:CA10642434	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.648G>C (p.Thr216=)	3718	JAK3	Likely benign	200376035	RCV001490948;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953338	17953338	17953338	-
NM_000215.4(JAK3):c.637A>C (p.Ile213Leu)	3718	JAK3	Uncertain significance	1007002260	RCV001300320;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953349	17953349	17953349	-
NM_000215.4(JAK3):c.633G>T (p.Arg211Ser)	3718	JAK3	Uncertain significance	-1	RCV003051928;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953353	17953353	NC_000019.9:g.17953353C>A	-
NM_000215.4(JAK3):c.631A>C (p.Arg211=)	3718	JAK3	Benign/Likely benign	56269787	RCV000639645\|RCV001703600;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17953355	17953355	19:g.17953355T>G	ClinGen:CA9302111	CN169374 not specified;
NM_000215.4(JAK3):c.631A>G (p.Arg211Gly)	3718	JAK3	Uncertain significance	-1	RCV002766406;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953355	17953355	NC_000019.9:g.17953355T>C	-
NM_000215.4(JAK3):c.630G>A (p.Arg210=)	3718	JAK3	Likely benign	201101011	RCV001433208;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953356	17953356	19:g.17953356C>T	ClinGen:CA9302113	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.624G>T (p.Val208=)	3718	JAK3	Likely benign	868243883	RCV002177164;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953362	17953362	17953362	-
NM_000215.4(JAK3):c.619T>G (p.Phe207Val)	3718	JAK3	Uncertain significance	-1	RCV002722102;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953367	17953367	NC_000019.9:g.17953367A>C	-
NM_000215.4(JAK3):c.610_611delinsAA (p.Gly204Asn)	3718	JAK3	Uncertain significance	2094242511	RCV001052021;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953375	17953376	NC_000019.9:g.17953375_17953376delinsTT	-
NM_000215.4(JAK3):c.598G>A (p.Asp200Asn)	3718	JAK3	Uncertain significance	-1	RCV003017371;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953388	17953388	NC_000019.9:g.17953388C>T	-
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr)	3718	JAK3	Pathogenic	1467075214	RCV001382206;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953408	17953408	17953408	-
NM_000215.4(JAK3):c.570C>T (p.Tyr190=)	3718	JAK3	Likely benign	759887019	RCV001438254;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953416	17953416	17953416	-
NM_000215.4(JAK3):c.567-8C>A	3718	JAK3	Likely benign	753082440	RCV000933024;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953427	17953427	19:g.17953427G>T	-
NM_000215.4(JAK3):c.567-9C>T	3718	JAK3	Likely benign	-1	RCV003055115;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953428	17953428	NC_000019.9:g.17953428G>A	-
NM_000215.4(JAK3):c.566+6_566+41del	3718	JAK3	Conflicting interpretations of pathogenicity	754402855	RCV000486532\|RCV001280989;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953795	17953830	NC_000019.9:g.17953798_17953833del	ClinGen:CA9302133	CN169374 not specified;
NM_000215.4(JAK3):c.564C>G (p.Val188=)	3718	JAK3	Likely benign	199853515	RCV002088955;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953838	17953838	17953838	-
NM_000215.4(JAK3):c.564C>T (p.Val188=)	3718	JAK3	Likely benign	-1	RCV002866267;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953838	17953838		-
NM_000215.4(JAK3):c.538_543del (p.Arg180_Pro181del)	3718	JAK3	Uncertain significance	-1	RCV002861861;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953859	17953864	NC_000019.9:g.17953860_17953865del	-
NM_000215.4(JAK3):c.532G>A (p.Ala178Thr)	3718	JAK3	Uncertain significance	759903379	RCV001344273\|RCV002307731;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN517202	19	17953870	17953870	17953870	-
NM_000215.4(JAK3):c.524G>A (p.Arg175Gln)	3718	JAK3	Uncertain significance	776089693	RCV001969559;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953878	17953878	17953878	-
NM_000215.4(JAK3):c.521C>T (p.Ala174Val)	3718	JAK3	Uncertain significance	767865565	RCV001128554;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953881	17953881	19:g.17953881G>A	-
NM_000215.4(JAK3):c.516G>A (p.Arg172=)	3718	JAK3	Likely benign	1599880017	RCV001499359;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953886	17953886	19:g.17953886C>T	-
NM_000215.4(JAK3):c.512C>T (p.Ala171Val)	3718	JAK3	Uncertain significance	764890523	RCV000820270;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953890	17953890	19:g.17953890G>A	-
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu)	3718	JAK3	Pathogenic	147181709	RCV000009959;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953895	17953895	19:g.17953895G>T	OMIM:600173.0006	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.502T>C (p.Leu168=)	3718	JAK3	Likely benign	1599880046	RCV000936599;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953900	17953900	19:g.17953900A>G	-
NM_000215.4(JAK3):c.501G>T (p.Val167=)	3718	JAK3	Likely benign	1599880049	RCV001392737;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953901	17953901	19:g.17953901C>A	-
NM_000215.4(JAK3):c.499G>A (p.Val167Met)	3718	JAK3	Uncertain significance	973863737	RCV001036001;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953903	17953903	19:g.17953903C>T	-
NM_000215.4(JAK3):c.498C>A (p.Ala166=)	3718	JAK3	Uncertain significance	201527800	RCV001239055;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953904	17953904	19:g.17953904G>T	-
NM_000215.4(JAK3):c.495G>A (p.Leu165=)	3718	JAK3	Likely benign	-1	RCV002830187;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953907	17953907		-
NM_000215.4(JAK3):c.492C>T (p.Ser164=)	3718	JAK3	Likely benign	-1	RCV002943956;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953910	17953910		-
NM_000215.4(JAK3):c.489C>T (p.Leu163=)	3718	JAK3	Likely benign	138218812	RCV002128091;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953913	17953913	17953913	-
NM_000215.4(JAK3):c.482A>C (p.Glu161Ala)	3718	JAK3	Uncertain significance	756695301	RCV001891463;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953920	17953920	17953920	-
NM_000215.4(JAK3):c.478G>T (p.Gly160Cys)	3718	JAK3	Uncertain significance	149579831	RCV000821356;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953924	17953924	19:g.17953924C>A	-
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)	3718	JAK3	Conflicting interpretations of pathogenicity	55778349	RCV000121271\|RCV000224911\|RCV001084083;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953950	17953950	19:g.17953950G>C	ClinGen:CA160252,UniProtKB:P52333#VAR_010492	CN517202 not provided;
NM_000215.4(JAK3):c.446G>C (p.Arg149Pro)	3718	JAK3	Uncertain significance	774941503	RCV000696147;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953956	17953956	19:g.17953956C>G	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.445C>A (p.Arg149Ser)	3718	JAK3	Uncertain significance	1342240526	RCV002024423;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953957	17953957	17953957	-
NM_000215.4(JAK3):c.437T>G (p.Val146Gly)	3718	JAK3	Likely pathogenic	-1	RCV002833283;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953965	17953965	NC_000019.9:g.17953965A>C	-
NM_000215.4(JAK3):c.425G>T (p.Arg142Leu)	3718	JAK3	Uncertain significance	-1	RCV002972049;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953977	17953977	NC_000019.9:g.17953977C>A	-
NM_000215.4(JAK3):c.421-7C>T	3718	JAK3	Likely benign	200101939	RCV001496493;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953988	17953988	17953988	-
NM_000215.4(JAK3):c.421-10G>A	3718	JAK3	Uncertain significance	976205515	RCV001321572;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17953991	17953991	17953991	-
NM_000215.4(JAK3):c.420+3G>A	3718	JAK3	Uncertain significance	748616863	RCV001908175;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954186	17954186	17954186	-
NM_000215.4(JAK3):c.405G>A (p.Glu135=)	3718	JAK3	Likely benign	867072615	RCV001392735;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954204	17954204	19:g.17954204C>T	-
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)	3718	JAK3	Benign/Likely benign	3212723	RCV000121269\|RCV000442628\|RCV000433061\|RCV000550265;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462, Orphanet:518\|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640, Orphanet:513\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954215	17954215	19:g.17954215G>T	ClinGen:CA160246,UniProtKB:P52333#VAR_019336	C0023462 Acute megakaryoblastic leukemia;
NM_000215.4(JAK3):c.381T>C (p.Ala127=)	3718	JAK3	Likely benign	587778418	RCV000121270\|RCV001466079;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954228	17954228	19:g.17954228A>G	ClinGen:CA160249	CN169374 not specified;
NM_000215.4(JAK3):c.367G>A (p.Asp123Asn)	3718	JAK3	Uncertain significance	201419310	RCV001342604;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954242	17954242	17954242	-
NM_000215.4(JAK3):c.362G>A (p.Arg121His)	3718	JAK3	Conflicting interpretations of pathogenicity	143586866	RCV000639633;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954247	17954247	NC_000019.9:g.17954247C>T	ClinGen:CA9302185	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.361C>T (p.Arg121Cys)	3718	JAK3	Uncertain significance	776850935	RCV001053374;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954248	17954248	19:g.17954248G>A	-
NM_000215.4(JAK3):c.361C>G (p.Arg121Gly)	3718	JAK3	Uncertain significance	776850935	RCV001940666;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954248	17954248	17954248	-
NM_000215.4(JAK3):c.358C>T (p.Leu120=)	3718	JAK3	Likely benign	762655525	RCV002211795;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954251	17954251	17954251	-
NM_000215.4(JAK3):c.355G>C (p.Gly119Arg)	3718	JAK3	Uncertain significance	763832096	RCV001372464;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954254	17954254	17954254	-
NM_000215.4(JAK3):c.354C>T (p.Phe118=)	3718	JAK3	Likely benign	751336782	RCV001410863;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954255	17954255	NC_000019.9:g.17954255G>A	ClinGen:CA9302189	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.350G>A (p.Arg117His)	3718	JAK3	Uncertain significance	2094244927	RCV001239084;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954259	17954259	19:g.17954259C>T	-
NM_000215.4(JAK3):c.349C>T (p.Arg117Cys)	3718	JAK3	Conflicting interpretations of pathogenicity	201233697	RCV000441083\|RCV001861508;	N	MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954260	17954260	19:g.17954260G>A	ClinGen:CA16608977	CN517202 not provided;
NM_000215.4(JAK3):c.323A>G (p.Asn108Ser)	3718	JAK3	Uncertain significance	199790370	RCV001215468;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954286	17954286	19:g.17954286T>C	-
NM_000215.4(JAK3):c.309-7dup	3718	JAK3	Likely benign	2147699635	RCV002086927;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954306	17954307	17954306	-
NM_000215.4(JAK3):c.309-8C>T	3718	JAK3	Likely benign	-1	RCV003011387;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954308	17954308	NC_000019.9:g.17954308G>A	-
NM_000215.4(JAK3):c.309-15C>T	3718	JAK3	Likely benign	755593886	RCV002121795;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954315	17954315	17954315	-
NM_000215.4(JAK3):c.309-20G>A	3718	JAK3	Likely benign	753489606	RCV002177477;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954320	17954320	17954320	-
NM_000215.4(JAK3):c.308+16dup	3718	JAK3	Benign	3212717	RCV002176537;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954569	17954570	17954569	-
NM_000215.4(JAK3):c.308+16del	3718	JAK3	Benign	3212717	RCV000030092\|RCV000494652\|RCV001512120;	N	Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660\|MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954570	17954570	19:g.17954570_17954570del	ClinGen:CA214094	CN169374 not specified;
NM_000215.4(JAK3):c.308+8G>C	3718	JAK3	Likely benign	-1	RCV002818970;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954578	17954578	NC_000019.9:g.17954578C>G	-
NM_000215.4(JAK3):c.308G>A (p.Arg103His)	3718	JAK3	Likely pathogenic	774202259	RCV000171281\|RCV001209588;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954586	17954586	19:g.17954586C>T	ClinGen:CA236018	CN517202 not provided;
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)	3718	JAK3	Pathogenic/Likely pathogenic	761583890	RCV000433633\|RCV001239083;	N	MedGen:CN517202\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954587	17954587	19:g.17954587G>A	ClinGen:CA9302208	CN517202 not provided;
NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys)	3718	JAK3	Pathogenic	137852624	RCV000009954;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954595	17954595	19:g.17954595T>C	ClinGen:CA120300,UniProtKB:P52333#VAR_006284,OMIM:600173.0001	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.297G>C (p.Leu99=)	3718	JAK3	Benign	3212716	RCV000125438\|RCV000539929;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954597	17954597	NC_000019.9:g.17954597C>G	ClinGen:CA291261	CN169374 not specified;
NM_000215.4(JAK3):c.297G>A (p.Leu99=)	3718	JAK3	Uncertain significance	3212716	RCV001128555;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954597	17954597	19:g.17954597C>T	-
NM_000215.4(JAK3):c.281G>A (p.Ser94Asn)	3718	JAK3	Uncertain significance	-1	RCV003051774;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954613	17954613	NC_000019.9:g.17954613C>T	-
NM_000215.4(JAK3):c.268G>A (p.Val90Met)	3718	JAK3	Uncertain significance	1016346013	RCV002266247\|RCV003096014\|RCV003096015;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MeSH:D030342,MedGen:C0950123	19	17954626	17954626	17954626	-
NM_000215.4(JAK3):c.267C>A (p.Ser89=)	3718	JAK3	Likely benign	754716735	RCV000841533\|RCV001347972;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954627	17954627	19:g.17954627G>T	-
NM_000215.4(JAK3):c.267C>T (p.Ser89=)	3718	JAK3	Likely benign	-1	RCV002942282;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954627	17954627		-
NM_000215.4(JAK3):c.260TCT[1] (p.Phe88del)	3718	JAK3	Uncertain significance	1568408091	RCV000693721;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954629	17954631	19:g.17954629_17954631del	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.252G>A (p.Pro84=)	3718	JAK3	Conflicting interpretations of pathogenicity	139738701	RCV000865168\|RCV001702613;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17954642	17954642	19:g.17954642C>T	ClinGen:CA9302213	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.251C>T (p.Pro84Leu)	3718	JAK3	Uncertain significance	-1	RCV002581641;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954643	17954643	NC_000019.9:g.17954643G>A	-
NM_000215.4(JAK3):c.231C>T (p.Asp77=)	3718	JAK3	Likely benign	771323120	RCV001429835;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954663	17954663	17954663	-
NM_000215.4(JAK3):c.217C>G (p.Leu73Val)	3718	JAK3	Uncertain significance	2094245829	RCV001977633;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954677	17954677	17954677	-
NM_000215.4(JAK3):c.192G>A (p.Leu64=)	3718	JAK3	Likely benign	771814824	RCV002134685;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954702	17954702	17954702	-
NM_000215.4(JAK3):c.187A>G (p.Ile63Val)	3718	JAK3	Conflicting interpretations of pathogenicity	144405201	RCV000239244\|RCV000639640;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954707	17954707	19:g.17954707T>C	ClinGen:CA9302225	CN169374 not specified;
NM_000215.4(JAK3):c.185-15G>A	3718	JAK3	Likely benign	-1	RCV002631107;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17954724	17954724	NC_000019.9:g.17954724C>T	-
NM_000215.4(JAK3):c.184+17T>C	3718	JAK3	Likely benign	200903837	RCV002167708;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955026	17955026	17955026	-
NM_000215.4(JAK3):c.184+11C>A	3718	JAK3	Likely benign	1331165925	RCV002154527;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955032	17955032	17955032	-
NM_000215.4(JAK3):c.184+5G>A	3718	JAK3	Uncertain significance	-1	RCV003131292;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955038	17955038	NC_000019.9:g.17955038C>T	-
NM_000215.4(JAK3):c.184G>A (p.Gly62Ser)	3718	JAK3	Uncertain significance	199602590	RCV001224740;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955043	17955043	19:g.17955043C>T	-
NM_000215.4(JAK3):c.183C>T (p.Ser61=)	3718	JAK3	Uncertain significance	200269517	RCV001122851;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955044	17955044	19:g.17955044G>A	-
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)	3718	JAK3	Likely pathogenic	-1	RCV002797190;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955052	17955052	NC_000019.9:g.17955052T>A	-
NM_000215.4(JAK3):c.172_174del (p.Ala58del)	3718	JAK3	Pathogenic	137852627	RCV000009960;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955053	17955055	19:g.17955053_17955055del	ClinGen:CA120309,OMIM:600173.0007	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.172G>A (p.Ala58Thr)	3718	JAK3	Uncertain significance	2046340891	RCV001976801;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955055	17955055	17955055	-
NM_000215.4(JAK3):c.165G>A (p.Val55=)	3718	JAK3	Likely benign	-1	RCV002572631;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955062	17955062		-
NM_000215.4(JAK3):c.163G>A (p.Val55Met)	3718	JAK3	Uncertain significance	-1	RCV002639470;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955064	17955064	NC_000019.9:g.17955064C>T	-
NM_000215.4(JAK3):c.154G>A (p.Asp52Asn)	3718	JAK3	Uncertain significance	2147700846	RCV001369383;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955073	17955073	17955073	-
NM_000215.4(JAK3):c.150T>C (p.Ala50=)	3718	JAK3	Likely benign	2094246845	RCV001394674;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955077	17955077	17955077	-
NM_000215.4(JAK3):c.141C>G (p.Asp47Glu)	3718	JAK3	Uncertain significance	1599881400	RCV000813663;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955086	17955086	19:g.17955086G>C	-
NM_000215.4(JAK3):c.136G>A (p.Gly46Arg)	3718	JAK3	Uncertain significance	778988303	RCV001038232;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955091	17955091	19:g.17955091C>T	-
NM_000215.4(JAK3):c.125C>A (p.Ser42Tyr)	3718	JAK3	Uncertain significance	2094246939	RCV001041840;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955102	17955102	19:g.17955102G>T	-
NM_000215.4(JAK3):c.123A>G (p.Leu41=)	3718	JAK3	Likely benign	-1	RCV002795037;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955104	17955104		-
NM_000215.4(JAK3):c.119G>A (p.Arg40His)	3718	JAK3	Conflicting interpretations of pathogenicity	56384680	RCV000530161;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955108	17955108	19:g.17955108C>T	ClinGen:CA9302261,UniProtKB:P52333#VAR_041723	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.115dup (p.Gln39fs)	3718	JAK3	Pathogenic/Likely pathogenic	-1	RCV003228198\|RCV003340669;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700, Orphanet:277	19	17955111	17955112		-
NM_000215.4(JAK3):c.115del (p.Gln39fs)	3718	JAK3	Pathogenic	755706305	RCV000804343\|RCV001008070;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:CN517202	19	17955112	17955112	19:g.17955112_17955112del	-
NM_000215.4(JAK3):c.115C>G (p.Gln39Glu)	3718	JAK3	Uncertain significance	-1	RCV002810365;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955112	17955112	NC_000019.9:g.17955112G>C	-
NM_000215.4(JAK3):c.114C>A (p.Pro38=)	3718	JAK3	Conflicting interpretations of pathogenicity	1448668382	RCV000768243;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955113	17955113	NC_000019.9:g.17955113G>T	-
NM_000215.4(JAK3):c.110C>G (p.Pro37Arg)	3718	JAK3	Uncertain significance	200960683	RCV001304055;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955117	17955117	17955117	-
NM_000215.4(JAK3):c.108G>C (p.Gly36=)	3718	JAK3	Conflicting interpretations of pathogenicity	149701114	RCV000125437\|RCV000639635\|RCV003422013;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17955119	17955119	NC_000019.9:g.17955119C>G	ClinGen:CA291258	CN169374 not specified;
NM_000215.4(JAK3):c.106G>A (p.Gly36Arg)	3718	JAK3	Uncertain significance	-1	RCV002785242;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955121	17955121	NC_000019.9:g.17955121C>T	-
NM_000215.4(JAK3):c.105C>T (p.Pro35=)	3718	JAK3	Likely benign	199988158	RCV000639644;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955122	17955122	19:g.17955122G>A	ClinGen:CA9302265	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.105C>A (p.Pro35=)	3718	JAK3	Uncertain significance	-1	RCV002942204;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955122	17955122		-
NM_000215.4(JAK3):c.93C>T (p.Pro31=)	3718	JAK3	Likely benign	201917022	RCV001423059;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955134	17955134	17955134	-
NM_000215.4(JAK3):c.81T>A (p.His27Gln)	3718	JAK3	Uncertain significance	1039181282	RCV000553899;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955146	17955146	19:g.17955146A>T	ClinGen:CA306142410	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.81T>G (p.His27Gln)	3718	JAK3	Uncertain significance	1039181282	RCV002020094;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955146	17955146	17955146	-
NM_000215.4(JAK3):c.63G>A (p.Thr21=)	3718	JAK3	Uncertain significance	754954318	RCV001946359;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955164	17955164	17955164	-
NM_000215.4(JAK3):c.63G>C (p.Thr21=)	3718	JAK3	Likely benign	-1	RCV002626923;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955164	17955164		-
NM_000215.4(JAK3):c.62C>T (p.Thr21Met)	3718	JAK3	Uncertain significance	752820429	RCV001301284;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955165	17955165	17955165	-
NM_000215.4(JAK3):c.42T>A (p.Arg14=)	3718	JAK3	Likely benign	769914477	RCV001404476;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955185	17955185	17955185	-
NM_000215.4(JAK3):c.35C>T (p.Pro12Leu)	3718	JAK3	Uncertain significance	56061056	RCV000306819;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955192	17955192	19:g.17955192G>A	ClinGen:CA9302282,UniProtKB:P52333#VAR_041722	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.28C>G (p.Leu10Val)	3718	JAK3	Uncertain significance	1052019264	RCV000639634;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955199	17955199	19:g.17955199G>C	ClinGen:CA306142625	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.23C>T (p.Thr8Met)	3718	JAK3	Uncertain significance	145500023	RCV000121264\|RCV000639632;	N	MedGen:CN169374\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955204	17955204	19:g.17955204G>A	ClinGen:CA160231	CN169374 not specified;
NM_000215.4(JAK3):c.14G>A (p.Ser5Asn)	3718	JAK3	Uncertain significance	566269022	RCV001038374;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955213	17955213	19:g.17955213C>T	-
NM_000215.4(JAK3):c.5C>T (p.Ala2Val)	3718	JAK3	Uncertain significance	1568408509	RCV000706025;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955222	17955222	19:g.17955222G>A	-	C1833275 600802 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;
NM_000215.4(JAK3):c.4G>C (p.Ala2Pro)	3718	JAK3	Uncertain significance	-1	RCV003066107;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955223	17955223	NC_000019.9:g.17955223C>G	-
NM_000215.4(JAK3):c.-3C>T	3718	JAK3	Uncertain significance	754275786	RCV000400404;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17955229	17955229	19:g.17955229G>A	ClinGen:CA9302289	CN239264 Severe Combined Immune Deficiency;
NM_000215.4(JAK3):c.-19C>T	3718	JAK3	Uncertain significance	181416110	RCV001122852;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17958760	17958760	19:g.17958760G>A	-
NM_000215.4(JAK3):c.-26C>T	3718	JAK3	Likely benign	199713123	RCV000827897\|RCV001122853;	N	MedGen:C3661900\|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17958767	17958767	19:g.17958767G>A	-
NM_000215.4(JAK3):c.-36A>G	3718	JAK3	Benign	7254346	RCV000310487\|RCV001613059;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078\|MedGen:C3661900	19	17958777	17958777	19:g.17958777T>C	ClinGen:CA10652320	CN239264 Severe Combined Immune Deficiency;
NM_000215.3(JAK3):c.-54C>T	3718	JAK3	Uncertain significance	201353678	RCV000367598;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17958795	17958795	19:g.17958795G>A	ClinGen:CA10651641	CN239264 Severe Combined Immune Deficiency;
NM_000215.3(JAK3):c.-105G>A	3718	JAK3	Uncertain significance	950208815	RCV001123936;	N	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802, Orphanet:35078	19	17958846	17958846	19:g.17958846C>T	-

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