Full data view for gene RAG1

Information The variants shown are described using the NM_000448.2 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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-?/. - c.-15+12A>G r.(=) p.(=) Unknown - likely benign g.36589684A>G g.36568134A>G RAG1(NM_000448.2):c.-15+12A>G - RAG1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140del r.(?) p.(Lys47Argfs*35) Unknown - pathogenic g.36594994del - RAG1(NM_000448.2):c.140delA (p.K47Rfs*35), RAG1(NM_000448.3):c.140delA (p.K47Rfs*35) - RAG1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140del r.(?) p.(Lys47Argfs*35) Unknown - pathogenic g.36594994del - RAG1(NM_000448.2):c.140delA (p.K47Rfs*35), RAG1(NM_000448.3):c.140delA (p.K47Rfs*35) - RAG1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.140del r.(?) p.(Lys47Argfs*35) Unknown - likely pathogenic g.36594994del - RAG1(NM_000448.2):c.140delA (p.K47Rfs*35), RAG1(NM_000448.3):c.140delA (p.K47Rfs*35) - RAG1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189A>G r.(?) p.(Pro63=) Unknown - likely benign g.36595043A>G - RAG1(NM_000448.2):c.189A>G (p.P63=) - RAG1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251A>G r.(?) p.(His84Arg) Unknown - benign g.36595105A>G - RAG1(NM_000448.2):c.251A>G (p.H84R) - RAG1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295G>A r.(?) p.(Gly99Ser) Unknown - likely benign g.36595149G>A g.36573599G>A RAG1(NM_000448.2):c.295G>A (p.G99S) - RAG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>A r.(=) p.(=) Parent #1 - likely benign g.36595157G>A g.36573607G>A - - RAG1_000053 110 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4151025 Germline - 110/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 110 Mohammed Faruq
-?/. - c.303G>A r.(=) p.(=) Both (homozygous) - likely benign g.36595157G>A g.36573607G>A - - RAG1_000053 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4151025 Germline - 2/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.322C>T r.(?) p.(Arg108*) Unknown - pathogenic g.36595176C>T - RAG1(NM_000448.2):c.322C>T (p.R108*), RAG1(NM_000448.3):c.322C>T (p.R108*) - RAG1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322C>T r.(?) p.(Arg108*) Unknown - pathogenic g.36595176C>T - RAG1(NM_000448.2):c.322C>T (p.R108*), RAG1(NM_000448.3):c.322C>T (p.R108*) - RAG1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322C>T r.(?) p.(Arg108*) Unknown - pathogenic g.36595176C>T - RAG1(NM_000448.2):c.322C>T (p.R108*), RAG1(NM_000448.3):c.322C>T (p.R108*) - RAG1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.378A>G r.(?) p.(Arg126=) Unknown - VUS g.36595232A>G g.36573682A>G RAG1(NM_000448.2):c.378A>G (p.R126=) - RAG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394C>T r.(?) p.(Pro132Ser) Unknown - VUS g.36595248C>T g.36573698C>T RAG1(NM_000448.2):c.394C>T (p.P132S) - RAG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486T>A r.(?) p.(Asp162Glu) Unknown - VUS g.36595340T>A - - - RAG1_000060 - 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.486T>A r.(?) p.(Asp162Glu) Unknown - VUS g.36595340T>A - - - RAG1_000060 - 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.577G>A r.(?) p.(Glu193Lys) Unknown - likely benign g.36595431G>A - RAG1(NM_000448.2):c.577G>A (p.E193K) - RAG1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - VUS g.36595444C>T - - - RAG1_000061 - 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.725A>G r.(?) p.(Gln242Arg) Unknown - likely benign g.36595579A>G g.36574029A>G RAG1(NM_000448.2):c.725A>G (p.Q242R, p.(Gln242Arg)) - RAG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725A>G r.(?) p.(Gln242Arg) Unknown - likely benign g.36595579A>G g.36574029A>G RAG1(NM_000448.2):c.725A>G (p.Q242R, p.(Gln242Arg)) - RAG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725A>G r.(?) p.(Gln242Arg) Unknown - likely benign g.36595579A>G - RAG1(NM_000448.2):c.725A>G (p.Q242R, p.(Gln242Arg)) - RAG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.730A>G r.(?) p.(Arg244Gly) Unknown - pathogenic g.36595584A>G g.36574034A>G - - RAG1_000014 submitted through SIB; ExPASy_007801; Polymorphism PubMed: Nomdedéu et al (1996) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 2 c.736del r.(?) p.(Ala246Profs*18) Parent #1 - pathogenic g.36595590del g.36574040del 736delG - RAG1_000024 - - - - Germline no - - - - DNA SEQ-NG-I blood - Omenn - - - M no Turkey Turkısh 03y - - - 1 Sinem Firtina
-/. - c.746= r.(=) p.(Arg249=) Unknown - benign g.36595600A>G g.36574050A>G RAG1(NM_000448.2):c.746A>G (p.H249R), RAG1(NM_000448.3):c.746A>G (p.H249R) - RAG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746= r.(=) p.(Arg249=) Unknown - likely benign g.36595600A>G g.36574050A>G RAG1(NM_000448.2):c.746A>G (p.H249R), RAG1(NM_000448.3):c.746A>G (p.H249R) - RAG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>A r.(?) p.(Met263Ile) Unknown - likely benign g.36595643G>A - RAG1(NM_000448.2):c.789G>A (p.M263I) - RAG1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.906C>A r.(?) p.(Asp302Glu) Unknown - benign g.36595760C>A - RAG1(NM_000448.2):c.906C>A (p.D302E) - RAG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.974G>A r.(?) p.(Gly325Asp) Unknown - likely benign g.36595828G>A g.36574278G>A RAG1(NM_000448.2):c.974G>A (p.G325D) - RAG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.983G>A r.(?) p.(Cys328Tyr) Parent #1 - pathogenic g.36595837G>A g.36574287G>A - - RAG1_000054 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918571 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1048G>A r.(?) p.(Val350Ile) Unknown - likely benign g.36595902G>A g.36574352G>A RAG1(NM_000448.2):c.1048G>A (p.V350I) - RAG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1175G>A r.(?) p.(Gly392Glu) Parent #2 - pathogenic g.36596029G>A g.36574479G>A G392E - RAG1_000025 - - - - Germline - - - - - DNA SEQ-NG-I blood - Omenn - - - M no Turkey Turkısh 03y - - - 1 Sinem Firtina
+/? ? c.1186C>T r.(?) p.(Arg396Cys) Unknown - pathogenic g.36596040C>T g.36574490C>T - - RAG1_000004 submitted through SIB; ExPASy_008886; PubMed: Wada et al (2000) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1187G>A r.(?) p.(Arg396His) Unknown - pathogenic g.36596041G>A g.36574491G>A RAG1(NM_000448.2):c.1187G>A (p.R396H) - RAG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1187G>T r.(?) p.(Arg396Leu) Unknown - pathogenic g.36596041G>T g.36574491G>T - - RAG1_000015 submitted through SIB; ExPASy_025972; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1201T>C r.(?) p.(Ser401Pro) Unknown - pathogenic g.36596055T>C g.36574505T>C - - RAG1_000012 submitted through SIB; ExPASy_025973; PubMed: Alsmadi et al (2009) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1201T>C r.(?) p.(Ser401Pro) Unknown - pathogenic g.36596055T>C g.36574505T>C - - RAG1_000012 submitted through SIB; ExPASy_025973; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - pathogenic g.36596065G>A g.36574515G>A RAG1(NM_000448.2):c.1211G>A (p.R404Q), RAG1(NM_000448.3):c.1211G>A (p.R404Q) - RAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - pathogenic g.36596065G>A - RAG1(NM_000448.2):c.1211G>A (p.R404Q), RAG1(NM_000448.3):c.1211G>A (p.R404Q) - RAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - pathogenic g.36596065G>A - RAG1(NM_000448.2):c.1211G>A (p.R404Q), RAG1(NM_000448.3):c.1211G>A (p.R404Q) - RAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - pathogenic g.36596065G>A - RAG1(NM_000448.2):c.1211G>A (p.R404Q), RAG1(NM_000448.3):c.1211G>A (p.R404Q) - RAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - pathogenic g.36596065G>A - RAG1(NM_000448.2):c.1211G>A (p.R404Q), RAG1(NM_000448.3):c.1211G>A (p.R404Q) - RAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1211G>A r.(?) p.(Arg404Gln) Both (homozygous) ACMG pathogenic g.36596065G>A g.36574515G>A - - RAG1_000034 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat81,5 PubMed: Stray-Pedersen 2017 - M - - Middle East - - - - 1 Johan den Dunnen
+/? ? c.1229G>A r.(?) p.(Arg410Gln) Unknown - pathogenic g.36596083G>A g.36574533G>A - - RAG1_000016 submitted through SIB; ExPASy_025974; found in a compound heterozygote affected by an atypical form of severe combined immunodeficiency /Omenn syndrome PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn, SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1297G>A r.(?) p.(Val433Met) Unknown - pathogenic g.36596151G>A g.36574601G>A - - RAG1_000008 submitted through SIB; ExPASy_025975; PubMed: Alsmadi et al (2009) - - Unknown - - - - - DNA SEQ - - SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1303A>G r.(?) p.(Met435Val) Unknown - pathogenic g.36596157A>G g.36574607A>G - - RAG1_000006 submitted through SIB; ExPASy_025976; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1331C>T r.(?) p.(Ala444Val) Both (homozygous) ACMG pathogenic g.36596185C>T g.36574635C>T - - RAG1_000017 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - Omenn - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/? ? c.1331C>T r.(?) p.(Ala444Val) Unknown - pathogenic g.36596185C>T g.36574635C>T - - RAG1_000017 submitted through SIB; ExPASy_025977; Can result in either Omenn syndrome or atypical SCID/Omenn syndrome PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1331C>T r.(?) p.(Ala444Val) Unknown - pathogenic g.36596185C>T - RAG1(NM_000448.3):c.1331C>T (p.A444V) - RAG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346G>A r.(?) p.(Arg449Lys) Unknown - VUS g.36596200G>A g.36574650G>A - - RAG1_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1346G>A r.(?) p.(Arg449Lys) Unknown - VUS g.36596200G>A g.36574650G>A - - RAG1_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1346G>A r.(?) p.(Arg449Lys) Unknown - likely benign g.36596200G>A g.36574650G>A RAG1(NM_000448.2):c.1346G>A (p.R449K) - RAG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1346G>A r.(?) p.(Arg449Lys) Parent #1 - benign g.36596200G>A g.36574650G>A - - RAG1_000021 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4151031 Germline - 3/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/? ? c.1361T>A r.(?) p.(Leu454Gln) Unknown - pathogenic g.36596215T>A g.36574665T>A - - RAG1_000003 submitted through SIB; ExPASy_067274; PubMed: Dalal et al (2011) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1420C>T r.(?) p.(Arg474Cys) Unknown - pathogenic g.36596274C>T g.36574724C>T - - RAG1_000007 submitted through SIB; ExPASy_067275; Found in a patient with relatively late onset of infections and isolated T-cell lymphopenia PubMed: Avila et al (2010) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1421G>A r.(?) p.(Arg474His) Unknown - pathogenic g.36596275G>A g.36574725G>A - - RAG1_000018 submitted through SIB; ExPASy_025978; found in a compound heterozygote, also carrying p.His753Leu, affected by an atypical form of severe combined immunodeficiency /Omenn syndrome PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn, SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1516C>T r.(?) p.(Leu506Phe) Unknown - pathogenic g.36596370C>T g.36574820C>T RAG1(NM_000448.2):c.1516C>T (p.L506F) - RAG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1520G>A r.(?) p.(Arg507Gln) Unknown - VUS g.36596374G>A - - - RAG1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1573C>T r.(?) p.(Pro525Ser) Unknown - VUS g.36596427C>T - - - RAG1_000062 - 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.1649A>G r.(?) p.(Asp550Gly) Unknown - VUS g.36596503A>G - - - RAG1_000063 - 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.1677G>T r.(?) p.(Arg559Ser) Unknown - pathogenic g.36596531G>T g.36574981G>T - - RAG1_000010 submitted through SIB; ExPASy_025981; PubMed: Alsmadi et al (2009) - - Unknown - - - - - DNA SEQ - - Omenn, SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1677G>T r.(?) p.(Arg559Ser) Unknown - pathogenic g.36596531G>T g.36574981G>T - - RAG1_000010 submitted through SIB; ExPASy_025981; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn, SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1681C>T r.(?) p.(Arg561Cys) Unknown - pathogenic g.36596535C>T - RAG1(NM_000448.2):c.1681C>T (p.R561C) - RAG1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1682G>A r.(?) p.(Arg561His) Parent #1 - pathogenic g.36596536G>A g.36574986G>A - - RAG1_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894284 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1864G>A r.(?) p.(Ala622Thr) Unknown - VUS g.36596718G>A - RAG1(NM_000448.3):c.1864G>A (p.A622T) - RAG1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1870C>T r.(?) p.(Arg624Cys) Unknown - pathogenic g.36596724C>T g.36575174C>T - - RAG1_000020 submitted through SIB; ExPASy_025982; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1871G>A r.(?) p.(Arg624His) Unknown - pathogenic g.36596725G>A g.36575175G>A - - RAG1_000009 submitted through SIB; ExPASy_007803; PubMed: Alsmadi et al (2009) - - Unknown - - - - - DNA SEQ - - SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.2006A>G r.(?) p.(Glu669Gly) Unknown - pathogenic g.36596860A>G g.36575310A>G - - RAG1_000013 submitted through SIB; ExPASy_025983; PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.2009C>T r.(?) p.(Thr670Met) Unknown - VUS g.36596863C>T g.36575313C>T RAG1(NM_000448.2):c.2009C>T (p.T670M) - RAG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.2095C>T r.(?) p.(Arg699Trp) Unknown - pathogenic g.36596949C>T g.36575399C>T - - RAG1_000001 submitted through SIB; ExPASy_067276; Found in Omenn syndrome and also in a patient with a clinical phenotype dominated by multiple autoimmune disorders PubMed: Zhang et al (2011) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.2095C>T r.(?) p.(Arg699Trp) Unknown - pathogenic g.36596949C>T g.36575399C>T - - RAG1_000001 submitted through SIB; ExPASy_067276; Found in Omenn syndrome and also in a patient with a clinical phenotype dominated by multiple autoimmune disorders PubMed: Avila et al (2010) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.2095C>T r.(?) p.(Arg699Trp) Unknown - pathogenic g.36596949C>T - RAG1(NM_000448.3):c.2095C>T (p.R699W) - RAG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2147G>A r.(?) p.(Arg716Gln) Unknown - likely pathogenic g.36597001G>A g.36575451G>A RAG1(NM_000448.2):c.2147G>A (p.R716Q) - RAG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2196_2197del r.(?) p.(Cys733*) Unknown - likely pathogenic g.36597050_36597051del g.36575500_36575501del NM_000448.2(RAG1):c.2196_2197del p.(Cys733*) - RAG1_000023 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-531A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.2207C>T r.(?) p.(Thr736Ile) Unknown - VUS g.36597061C>T - RAG1(NM_000448.2):c.2207C>T (p.(Thr736Ile)) - RAG1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.2258A>T r.(?) p.(His753Leu) Unknown - pathogenic g.36597112A>T g.36575562A>T - - RAG1_000019 submitted through SIB; ExPASy_025984; found in a compound heterozygote, also carrying p.Arg474His, affected by an atypical form of severe combined immunodeficiency /Omenn syndrome PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn, SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.2326C>T r.(?) p.(Arg776Trp) Unknown - pathogenic g.36597180C>T g.36575630C>T - - RAG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2332C>G r.(?) p.(Arg778Gly) Unknown - likely pathogenic g.36597186C>G g.36575636C>G RAG1(NM_000448.2):c.2332C>G (p.R778G) - RAG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2333G>A r.(?) p.(Arg778Gln) Unknown - pathogenic g.36597187G>A g.36575637G>A RAG1(NM_000448.2):c.2333G>A (p.R778Q) - RAG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2451A>G r.(?) p.(Glu817=) Unknown - likely benign g.36597305A>G - RAG1(NM_000448.2):c.2451A>G (p.E817=) - RAG1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2459A>G r.(?) p.(Lys820Arg) Unknown - benign g.36597313A>G g.36575763A>G RAG1(NM_000448.2):c.2459A>G (p.K820R) - RAG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2522G>A r.(?) p.(Arg841Gln) Unknown - pathogenic g.36597376G>A - RAG1(NM_000448.3):c.2522G>A (p.R841Q) - RAG1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.2564A>T r.(?) p.(Asn855Ile) Unknown - pathogenic g.36597418A>T g.36575868A>T - - RAG1_000011 submitted through SIB; ExPASy_025986; Found in a patient with immunodeficiency and maternal T-cell engraftment (SCID with maternal T cells) PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - SCIDN - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.2571C>T r.(?) p.(Ala857=) Unknown - likely benign g.36597425C>T g.36575875C>T RAG1(NM_000448.2):c.2571C>T (p.A857=) - RAG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2571C>T r.(?) p.(Ala857=) Unknown - likely benign g.36597425C>T - RAG1(NM_000448.2):c.2571C>T (p.A857=) - RAG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2638G>A r.(?) p.(Glu880Lys) Unknown - benign g.36597492G>A - RAG1(NM_000448.2):c.2638G>A (p.E880K) - RAG1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.2654T>G r.(?) p.(Leu885Arg) Unknown - pathogenic g.36597508T>G g.36575958T>G - - RAG1_000002 submitted through SIB; ExPASy_008893; PubMed: Wada et al (2000) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.2659G>A r.(?) p.(Asp887Asn) Unknown - likely benign g.36597513G>A g.36575963G>A RAG1(NM_000448.2):c.2659G>A (p.D887N) - RAG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2690G>A r.(?) p.(Arg897Gln) Unknown - likely pathogenic g.36597544G>A - - - RAG1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2751G>A r.(?) p.(Gln917=) Unknown - likely benign g.36597605G>A g.36576055G>A RAG1(NM_000448.2):c.2751G>A (p.Q917=) - RAG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2751G>A r.(?) p.(Gln917=) Unknown - likely benign g.36597605G>A - RAG1(NM_000448.2):c.2751G>A (p.Q917=) - RAG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2857G>T r.(?) p.(Asp953Tyr) Unknown - VUS g.36597711G>T g.36576161G>T RAG1(NM_000448.2):c.2857G>T (p.D953Y) - RAG1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2880A>G r.(?) p.(Ala960=) Unknown - benign g.36597734A>G g.36576184A>G RAG1(NM_000448.2):c.2880A>G (p.A960=) - RAG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.2924G>A r.(?) p.(Arg975Gln) Unknown - pathogenic g.36597778G>A g.36576228G>A - - RAG1_000005 submitted through SIB; ExPASy_025987; {dbSNP150739647} PubMed: Villa et al (2001) - - Unknown - - - - - DNA SEQ - - Omenn - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.2942A>G r.(?) p.(Gln981Arg) Unknown - VUS g.36597796A>G g.36576246A>G - - RAG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2974A>G r.(?) p.(Lys992Glu) Unknown - pathogenic g.36597828A>G - RAG1(NM_000448.3):c.2974A>G (p.K992E) - RAG1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3016A>G r.(?) p.(Met1006Val) Unknown - likely benign g.36597870A>G g.36576320A>G RAG1(NM_000448.2):c.3016A>G (p.M1006V) - RAG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3021T>G r.(?) p.(Asn1007Lys) Unknown - likely benign g.36597875T>G g.36576325T>G RAG1(NM_000448.2):c.3021T>G (p.N1007K) - RAG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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