Full data view for gene JAK3

Information The variants shown are described using the NM_000215.3 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.17955226T>C g.17844417T>C - - JAK3_000037 - PubMed: Mella 2001 - - Germline yes - - - - DNA SEQ - - SCID Pat1/2 PubMed: Mella 2001 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Italy - - - - - 2 Johan den Dunnen
+/. - c.108del r.(?) p.(Gln39Serfs*108) Both (homozygous) - pathogenic (recessive) g.17955121del g.17844312del 203delG - JAK3_000052 - PubMed: Roberts 2004 - - Germline - - - - - DNA SEQ - - SCID Pat6 PubMed: Roberts 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.115del r.(?) p.(Gln39SerfsTer108) Unknown - pathogenic g.17955118del g.17844309del JAK3(NM_000215.3):c.115delC (p.Q39Sfs*108) - JAK3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115del r.(?) p.(Gln39Serfs*108) Unknown - VUS g.17955118del g.17844309del 115delC - JAK3_000093 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.115dup r.(?) p.(Gln39Profs*13) Parent #1 - pathogenic (recessive) g.17955118dup g.17844309dup 115-116insC - JAK3_000061 - PubMed: Lee 2010 - - Germline - - - - - DNA SEQ - - SCID - PubMed: Lee 2010 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.119G>A r.(?) p.(Arg40His) Unknown - likely benign g.17955108C>T g.17844299C>T JAK3(NM_000215.3):c.119G>A (p.R40H) - JAK3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119G>A r.(?) p.(Arg40His) Unknown - VUS g.17955108C>T g.17844299C>T JAK3(NM_000215.3):c.119G>A (p.R40H) - JAK3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Cys54=) Unknown - likely benign g.17955065G>A g.17844256G>A JAK3(NM_000215.3):c.162C>T (p.C54=) - JAK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.171_173del r.171_173del p.Ala58del Parent #2 - pathogenic (recessive) g.17955056_17955058del g.17844247_17844249del A58del,266delTGC - JAK3_000049 - PubMed: Zhou 2001, PubMed: Roberts 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID Pat PubMed: Zhou 2001, PubMed: Roberts 2004 - F no United States - - - - - 1 Johan den Dunnen
+/. - c.172G>C r.(?) p.(Ala58Pro) Parent #1 - pathogenic (recessive) g.17955055C>G g.17844246C>G g.268G>C - JAK3_000039 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat3 PubMed: Mella 2001 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.252G>A r.(?) p.(Pro84=) Unknown - likely benign g.17954642C>T g.17843833C>T JAK3(NM_000215.3):c.252G>A (p.P84=) - JAK3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252G>A r.(?) p.(Pro84=) Unknown - likely benign g.17954642C>T g.17843833C>T JAK3(NM_000215.3):c.252G>A (p.P84=) - JAK3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.299A>G r.299a>g p.Tyr100Cys Both (homozygous) - pathogenic (recessive) g.17954595T>C g.17843786T>C 394A>G (Tyrl00Cys) - JAK3_000025 - PubMed: Macchi 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatGM PubMed: Macchi 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - - - - 1 Johan den Dunnen
+?/. - c.308G>A r.(?) p.(Arg103His) Unknown - likely pathogenic g.17954586C>T g.17843777C>T JAK3(NM_000215.3):c.308G>A (p.R103H) - JAK3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308G>A r.(?) p.(Arg103His) Parent #1 - likely pathogenic g.17954586C>T g.17843777C>T - - JAK3_000085 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs774202259 Germline - 2/2781 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.308+16dup r.(=) p.(=) Unknown - likely benign g.17954575dup - JAK3(NM_000215.3):c.308+16dupC - JAK3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>T r.(?) p.(Phe118=) Unknown - likely benign g.17954255G>A g.17843446G>A JAK3(NM_000215.3):c.354C>T (p.F118=) - JAK3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361C>T r.(?) p.(Arg121Cys) Unknown - VUS g.17954248G>A g.17843439G>A JAK3(NM_000215.3):c.361C>T (p.R121C) - JAK3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394C>A r.(?) p.(Pro132Thr) Parent #1 - association g.17954215G>T g.17843406G>T - - JAK3_000057 not in 188 controls PubMed: Tomasson 2008 - rs3212723 Germline - 5/188 cases - - - DNA SEQ - - AML - PubMed: Tomasson 2008 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.394C>A r.(?) p.(Pro132Thr) Unknown - likely benign g.17954215G>T g.17843406G>T JAK3(NM_000215.3):c.394C>A (p.P132T), JAK3(NM_000215.4):c.394C>A (p.(Pro132Thr)) - JAK3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.394C>A r.(?) p.(Pro132Thr) Unknown - benign g.17954215G>T - JAK3(NM_000215.3):c.394C>A (p.P132T), JAK3(NM_000215.4):c.394C>A (p.(Pro132Thr)) - JAK3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430G>A r.(?) p.(Asp144Asn) Unknown - VUS g.17953972C>T g.17843163C>T - - JAK3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452C>G r.(?) p.(Pro151Arg) Unknown - VUS g.17953950G>C g.17843141G>C - - JAK3_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.452C>G r.(?) p.(Pro151Arg) Parent #1 - pathogenic (recessive) g.17953950G>C g.17843141G>C C547G - JAK3_000001 - PubMed: Schumacher 2000 - - Germline - - - - - DNA SEQ - - SCID PatPMC PubMed: Schumacher 2000 - - no Italy - - - - - 1 Johan den Dunnen
-?/. - c.452C>G r.(?) p.(Pro151Arg) Unknown - likely benign g.17953950G>C - JAK3(NM_000215.3):c.452C>G (p.(Pro151Arg)) - JAK3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.452C>G r.(?) p.(Pro151Arg) Paternal (confirmed) ACMG VUS g.17953950G>C g.17843141G>C - - JAK3_000001 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat49,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States Europe - - - - 1 Johan den Dunnen
-/. - c.452C>G r.(?) p.(Pro151Arg) Unknown - benign g.17953950G>C - JAK3(NM_000215.3):c.452C>G (p.(Pro151Arg)) - JAK3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.507C>A r.507c>a p.Asp169Glu Parent #1 - pathogenic (recessive) g.17953895G>T g.17843086G>T D169E - JAK3_000048 - PubMed: Zhou 2001, PubMed: Roberts 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID Pat PubMed: Zhou 2001, PubMed: Roberts 2004 - F no United States - - - - - 1 Johan den Dunnen
-?/. - c.631A>C r.(?) p.(Arg211=) Unknown - likely benign g.17953355T>G g.17842546T>G JAK3(NM_000215.3):c.631A>C (p.R211=) - JAK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.651G>A r.(?) p.(Val217=) Unknown - VUS g.17953335C>T g.17842526C>T JAK3(NM_000215.3):c.651G>A (p.V217=) - JAK3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665G>A r.(?) p.(Arg222His) Unknown - VUS g.17953321C>T - - - JAK3_000096 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.744C>G r.(?) p.(Ala248=) Unknown - likely benign g.17953242G>C g.17842433G>C JAK3(NM_000215.3):c.744C>G (p.A248=) - JAK3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>G r.(?) p.(Ala248=) Unknown - likely benign g.17953242G>C - JAK3(NM_000215.3):c.744C>G (p.A248=) - JAK3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774C>T r.(?) p.(Leu258=) Unknown - likely benign g.17953212G>A - JAK3(NM_000215.3):c.774C>T (p.L258=) - JAK3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.859del r.(?) p.(Glu287ArgfsTer13) Unknown - likely pathogenic g.17953128del g.17842319del JAK3(NM_000215.3):c.859delG (p.E287Rfs*13), JAK3(NM_000215.4):c.859delG (p.E287Rfs*13) - JAK3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.859del r.(?) p.(Glu287ArgfsTer13) Unknown - likely pathogenic g.17953128del - JAK3(NM_000215.3):c.859delG (p.E287Rfs*13), JAK3(NM_000215.4):c.859delG (p.E287Rfs*13) - JAK3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.862-21G>A r.(=) p.(=) Unknown - benign g.17952592C>T g.17841783C>T JAK3(NM_000215.3):c.862-21G>A - JAK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.862-2A>G r.spl? p.? Unknown - pathogenic g.17952573T>C g.17841764T>C JAK3(NM_000215.3):c.862-2A>G - JAK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984+4G>A r.spl? p.? Unknown - likely benign g.17952445C>T - JAK3(NM_000215.4):c.984+4G>A - JAK3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Lys361=) Unknown - likely benign g.17952257C>T g.17841448C>T JAK3(NM_000215.3):c.1083G>A (p.K361=) - JAK3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131C>T r.(?) p.(His377=) Unknown - likely benign g.17952209G>A - JAK3(NM_000215.3):c.1131C>T (p.H377=) - JAK3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1178dup r.0 p.0 Paternal (inferred) - pathogenic (recessive) g.17951119dup g.17840310dup insG at 1172 - JAK3_000027 - PubMed: Russell 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatAP PubMed: Russell 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
-/. - c.1187C>T r.(?) p.(Pro396Leu) Unknown - benign g.17951106G>A g.17840297G>A JAK3(NM_000215.3):c.1187C>T (p.P396L) - JAK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196A>G r.(?) p.(Tyr399Cys) Unknown - VUS g.17951097T>C - JAK3(NM_000215.4):c.1196A>G (p.(Tyr399Cys)) - JAK3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1204C>G r.(?) p.(Arg402Gly) Unknown - likely pathogenic g.17951089G>C - JAK3(NM_000215.4):c.1204C>G (p.R402G) - JAK3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1208G>A r.(?) p.(Arg403His) Unknown - pathogenic g.17951085C>T g.17840276C>T - - JAK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254+20G>A r.(=) p.(=) Unknown - likely benign g.17951019C>T - JAK3(NM_000215.3):c.1254+20G>A - JAK3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333C>T r.133c>u p.Arg445* Parent #1 - pathogenic (recessive) g.17950394G>A g.17839585G>A 1428C>T - JAK3_000029 - PubMed: Candotti 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatLP PubMed: Candotti 1997 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.1333C>T r.(?) p.(Arg445*) Both (homozygous) - pathogenic (recessive) g.17950394G>A g.17839585G>A C1428T - JAK3_000029 - PubMed: Schumacher 2000 - - Germline yes - - - - DNA SEQ - - SCID PatDR/PatMN PubMed: Schumacher 2000 2 related families - - Italy - - - - - 2 Johan den Dunnen
+/. - c.1345dup r.(?) p.(Ser449LysfsTer71) Unknown - pathogenic g.17950382dup g.17839573dup JAK3(NM_000215.3):c.1345dupA (p.S449Kfs*71) - JAK3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1352G>A r.(?) p.(Arg451Gln) Unknown - likely benign g.17950375C>T g.17839566C>T JAK3(NM_000215.3):c.1352G>A (p.R451Q), JAK3(NM_000215.4):c.1352G>A (p.R451Q) - JAK3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1352G>A r.(?) p.(Arg451Gln) Unknown - likely benign g.17950375C>T - JAK3(NM_000215.3):c.1352G>A (p.R451Q), JAK3(NM_000215.4):c.1352G>A (p.R451Q) - JAK3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1442-5C>T r.spl? p.? Unknown - benign g.17949204G>A - JAK3(NM_000215.3):c.1442-5C>T - JAK3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1442-2A>G r.1442_1446del p.Glu481fs Both (homozygous) - pathogenic (recessive) g.17949201T>C g.17838392T>C ex9 -2A>G - JAK3_000033 - PubMed: Candotti 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatVL PubMed: Candotti 1997 - - yes Italy - - - - - 1 Johan den Dunnen
+/. - c.(1441+1_1442-1)_(1786+1_1787-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(17946861_17947937)_(17949200_17950285)del - del ex10-12 - JAK3_000032 - PubMed: Candotti 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatLE PubMed: Candotti 1997 - - no Italy - - - - - 1 Johan den Dunnen
+/. - c.1442A>G r.1442a>g p.Glu481Gly Parent #1 - pathogenic (recessive) g.17949199T>C g.17838390T>C 1537A>G - JAK3_000031 - PubMed: Candotti 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatLE PubMed: Candotti 1997 - - no Italy - - - - - 1 Johan den Dunnen
-?/. - c.1453C>T r.(?) p.(Leu485=) Unknown - likely benign g.17949188G>A g.17838379G>A JAK3(NM_000215.3):c.1453C>T (p.L485=) - JAK3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1493C>A r.(?) p.(Ser498Tyr) Unknown - VUS g.17949148G>T - - - JAK3_000092 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1548C>T r.(?) p.(=) Unknown - likely benign g.17949093G>A - JAK3(NM_000215.3):c.1548C>T (p.I516=) - JAK3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1551T>A r.(?) p.(Pro517=) Unknown - likely benign g.17949090A>T g.17838281A>T JAK3(NM_000215.3):c.1551T>A (p.P517=) - JAK3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1568G>A r.1568g>a p.Trp523* Both (homozygous) - pathogenic (recessive) g.17949073C>T g.17838264C>T - - JAK3_000055 - PubMed: Uchiyama 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID Pat PubMed: Uchiyama 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.1581G>A r.(?) p.(Leu527=) Unknown - likely benign g.17948861C>T g.17838052C>T JAK3(NM_000215.3):c.1581G>A (p.L527=) - JAK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1581G>A r.(?) p.(Leu527=) Unknown - likely benign g.17948861C>T g.17838052C>T JAK3(NM_000215.3):c.1581G>A (p.L527=) - JAK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1678G>A r.(?) p.(Ala560Thr) Unknown - likely benign g.17948764C>T - JAK3(NM_000215.3):c.1678G>A (p.A560T) - JAK3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1695C>A r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.17948747G>T g.17837938G>T - - JAK3_000028 - PubMed: Russell 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatAP PubMed: Russell 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1695C>A r.(?) p.(Cys565Ter) Paternal (confirmed) ACMG pathogenic g.17948747G>T g.17837938G>T - - JAK3_000028 - PubMed: Stray-Pedersen 2017 - - Germline yes - - - - DNA SEQ-NG - - IMD Pat117,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - 1 Johan den Dunnen
+/. 13 c.1744C>T r.[1744c>u,1702_1786del,1702_1914del] p.[Arg582Trp,Ser568fs,Ser568_Leu638del] Both (homozygous) - pathogenic (recessive) g.17947980G>A g.17837171G>A 1839C>T (Arg577Trp) - JAK3_000024 reduced sized : normal sized protein 1:1 PubMed: Bozzi 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatAJ PubMed: Bozzi 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Lebanon - - - - - 1 Johan den Dunnen
+/. - c.1744C>T r.(?) p.(Arg582Trp) Parent #2 - pathogenic (recessive) g.17947980G>A g.17837171G>A - - JAK3_000024 - PubMed: Lee 2010 - - Germline - - - - - DNA SEQ - - SCID - PubMed: Lee 2010 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1744C>T r.(?) p.(Arg582Trp) Parent #2 - pathogenic (recessive) g.17947980G>A g.17837171G>A - - JAK3_000024 - - - - Germline - - - - - DNA SEQ-NG - - ? 37 - - M - China - - - - - 1 Sha Hong
-?/. - c.1752C>T r.(?) p.(Leu584=) Unknown - likely benign g.17947972G>A g.17837163G>A JAK3(NM_000215.3):c.1752C>T (p.L584=) - JAK3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1765G>A r.(?) p.(Gly589Ser) Both (homozygous) - pathogenic (recessive) g.17947959C>T g.17837150C>T - - JAK3_000050 - PubMed: Roberts 2004 - - Germline - - - - - DNA SEQ - - SCID Pat3 PubMed: Roberts 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1767C>T r.(?) p.(Gly589=) Unknown - likely pathogenic g.17947957G>A g.17837148G>A JAK3(NM_000215.3):c.1767C>T (p.G589=) - JAK3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1767C>T r.1766_1786del p.Val590_Ser596del Both (homozygous) - pathogenic (recessive) g.17947957G>A g.17837148G>A 1862C>T - JAK3_000014 - PubMed: Candotti 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCID PatNK PubMed: Candotti 1997 - - yes Sweden - - - - - 1 Johan den Dunnen
?/. - c.1781G>C r.(?) p.(Gly594Ala) Unknown - VUS g.17947943C>G - JAK3(NM_000215.3):c.1781G>C (p.(Gly594Ala)) - JAK3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1787-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.17946861C>T g.17836052C>T IVS12-1G>A - JAK3_000042 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat4 PubMed: Mella 2001 - F no - - - - - - 1 Johan den Dunnen
+/. 14 c.1837C>T r.(?) p.(Arg613Ter) Maternal (confirmed) ACMG pathogenic g.17946810G>A g.17836001G>A - - JAK3_000106 - PubMed: Stray-Pedersen 2017 - - Germline yes - - - - DNA SEQ-NG - - IMD Pat117,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - 1 Johan den Dunnen
+/. - c.1915-11G>A r.1914_1915ins1915-9_1915-1 p.Leu638_Glu639insProPro* Both (homozygous) - pathogenic (recessive) g.17946035C>T g.17835226C>T IVS14-11G>A - JAK3_000060 - PubMed: Lee 2010 - - Germline - - - - - DNA SEQ - - SCID P21 PubMed: Lee 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
?/. 15 c.1924G>C r.(?) p.(Gly642Arg) Maternal (confirmed) ACMG VUS g.17946015C>G g.17835206C>G - - JAK3_000105 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat49,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - United States Europe - - - - 1 Johan den Dunnen
-?/. - c.1929G>A r.(?) p.(Leu643=) Unknown - likely benign g.17946010C>T g.17835201C>T JAK3(NM_000215.3):c.1929G>A (p.L643=) - JAK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1951C>T r.(?) p.(Arg651Trp) Parent #1 - pathogenic (recessive) g.17945988G>A g.17835179G>A g.2046C>T - JAK3_000043 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat5 PubMed: Mella 2001 - M no - - - - - - 1 Johan den Dunnen
+/. - c.1951C>T r.(?) p.(Arg651Trp) Both (homozygous) - pathogenic (recessive) g.17945988G>A g.17835179G>A g.2046C>T - JAK3_000043 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat6 PubMed: Mella 2001 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.2046G>A r.(?) p.(=) Unknown - likely benign g.17945893C>T - JAK3(NM_000215.4):c.2046G>A (p.(Glu682=)) - JAK3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2062A>T r.(?) p.(Ile688Phe) Unknown - VUS g.17945798T>A - - - JAK3_000091 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2062A>T r.(?) p.(Ile688Phe) Unknown - VUS g.17945798T>A - - - JAK3_000091 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2062A>T r.(?) p.(Ile688Phe) Unknown - VUS g.17945798T>A - - - JAK3_000091 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.2065C>T r.(?) p.(Pro689Ser) Both (homozygous) - pathogenic (recessive) g.17945795G>A g.17834986G>A g.2160C>T - JAK3_000045 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat7 PubMed: Mella 2001 - M yes - - - - - - 1 Johan den Dunnen
-?/. - c.2076C>T r.(?) p.(Ala692=) Unknown - likely benign g.17945784G>A g.17834975G>A JAK3(NM_000215.3):c.2076C>T (p.A692=) - JAK3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2080G>A r.(?) p.(Glu694Lys) Parent #2 - pathogenic (recessive) g.17945780C>T g.17834971C>T g.2175G>A - JAK3_000044 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat5 PubMed: Mella 2001 - M no - - - - - - 1 Johan den Dunnen
+/. 15 c.2080G>T r.(?) p.(Glu694*) Both (homozygous) - pathogenic g.17945780C>A g.17834971C>A - - JAK3_000003 - - - - Germline yes - - - - DNA SEQ-NG-I blood amplicon sequencing SCIDB - - - F yes Turkey Turkısh 00y06m - - - 1 Sinem Firtina
+/. - c.2092G>T r.(?) p.(Glu698*) Parent #2 - pathogenic (recessive) g.17945768C>A g.17834959C>A g.2187G>T - JAK3_000041 - PubMed: Mella 2001 - - Germline - - - - - DNA SEQ - - SCID Pat4 PubMed: Mella 2001 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.2095G>T r.(?) p.(Ala699Ser) Unknown - likely benign g.17945765C>A g.17834956C>A JAK3(NM_000215.3):c.2095G>T (p.A699S) - JAK3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2125T>A r.(?) p.(Trp709Arg) Unknown - VUS g.17945735A>T g.17834926A>T JAK3(NM_000215.3):c.2125T>A (p.W709R) - JAK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2134G>A r.(?) p.(Gly712Ser) Unknown - likely pathogenic g.17945726C>T - JAK3(NM_000215.4):c.2134G>A (p.G712S) - JAK3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2141C>T r.(?) p.(Thr714Met) Both (homozygous) - pathogenic (recessive) g.17945719G>A g.17834910G>A C2236T - JAK3_000054 - PubMed: Tezcan 2005 - - Germline - - - - - DNA SEQ - - SCID Pat1/2 PubMed: Tezcan 2005 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 2 Johan den Dunnen
+?/. - c.2141C>T r.(?) p.(Thr714Met) Both (homozygous) - likely pathogenic g.17945719G>A g.17834910G>A - - JAK3_000054 - PubMed: Nair 2018 - rs140655992 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Nair 2018 patient - - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.2152G>C r.(?) p.(Val718Leu) Unknown - likely benign g.17945708C>G g.17834899C>G JAK3(NM_000215.3):c.2152G>C (p.V718L) - JAK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2152G>C r.(?) p.(Val718Leu) Unknown - likely benign g.17945708C>G g.17834899C>G JAK3(NM_000215.3):c.2152G>C (p.V718L) - JAK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2164G>A r.(?) p.(Val722Ile) Unknown - VUS g.17945696C>T g.17834887C>T - - JAK3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2164G>A r.(?) p.(Val722Ile) Unknown - likely benign g.17945696C>T g.17834887C>T JAK3(NM_000215.3):c.2164G>A (p.V722I), JAK3(NM_000215.4):c.2164G>A (p.(Val722Ile)) - JAK3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2164G>A r.(?) p.(Val722Ile) Parent #1 - pathogenic (recessive) g.17945696C>T g.17834887C>T G2259A - JAK3_000002 - PubMed: Schumacher 2000 - - Germline - - - - - DNA SEQ - - SCID PatLS PubMed: Schumacher 2000 - - no Italy - - - - - 1 Johan den Dunnen
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