Full data view for gene RAG2

Information The variants shown are described using the NM_000536.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.14T>A r.(?) p.(Met5Lys) Unknown - VUS g.36615705A>T g.36594155A>T RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K) - RAG2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14T>A r.(?) p.(Met5Lys) Unknown - VUS g.36615705A>T - RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K) - RAG2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22G>A r.(?) p.(Val8Ile) Unknown - likely benign g.36615697C>T g.36594147C>T RAG2(NM_001243786.1):c.22G>A (p.V8I) - RAG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22G>A r.(?) p.(Val8Ile) Unknown - likely benign g.36615697C>T g.36594147C>T RAG2(NM_001243786.1):c.22G>A (p.V8I) - RAG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A r.(?) p.(Val8Ile) Parent #1 - VUS g.36615697C>T g.36594147C>T - - RAG2_000006 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150762709 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.104G>C r.(?) p.(Gly35Ala) Parent #1 - VUS g.36615615C>G g.36594065C>G - - RAG2_000019 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148508754 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.104G>C r.(?) p.(Gly35Ala) Unknown - likely pathogenic g.36615615C>G - RAG2(NM_001243786.1):c.104G>C (p.G35A) - RAG2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.316A>G r.(?) p.(Lys106Glu) Unknown - likely pathogenic g.36615403T>C g.36593853T>C - - RAG2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.356del r.(?) p.(Lys119Argfs*12) Unknown - likely pathogenic g.36615367del - RAG2(NM_001243786.1):c.356delA (p.K119Rfs*12) - RAG2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Cys) Unknown - VUS g.36615352G>A - RAG2(NM_001243786.1):c.367C>T (p.R123C) - RAG2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442C>T r.(?) p.(Arg148*) Unknown - VUS g.36615277G>A - - - RAG2_000024 - 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.442C>T r.(?) p.(Arg148*) Unknown - VUS g.36615277G>A - - - RAG2_000024 - 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.529G>C r.(?) p.(Asp177His) Unknown - VUS g.36615190C>G - - - RAG2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.547T>C r.(?) p.(Phe183Leu) Parent #1 - likely pathogenic g.36615172A>G g.36593622A>G - - RAG2_000018 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205468 Germline - 0/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - - Mohammed Faruq
+?/. - c.547T>C r.(?) p.(Phe183Leu) Both (homozygous) - likely pathogenic g.36615172A>G g.36593622A>G - - RAG2_000018 no heterozygous ; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205468 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.631G>A r.(?) p.(Ala211Thr) Unknown - VUS g.36615088C>T - RAG2(NM_000536.4):c.631G>A (p.A211T) - RAG2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.644C>T r.(?) p.(Thr215Ile) Unknown - benign g.36615075G>A - RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I) - RAG2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.644C>T r.(?) p.(Thr215Ile) Unknown - VUS g.36615075G>A - RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I) - RAG2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - VUS g.36614905C>T - - - RAG2_000027 - 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.814G>C r.(?) p.(Val272Leu) Unknown - VUS g.36614905C>G g.36593355C>G RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L) - RAG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>C r.(?) p.(Val272Leu) Unknown - VUS g.36614905C>G - RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L) - RAG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(?) p.(=) Unknown - likely benign g.36614855G>A g.36593305G>A RAG2(NM_001243786.1):c.864C>T (p.N288=) - RAG2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>A r.(?) p.(Arg300His) Unknown - VUS g.36614820C>T - - - RAG2_000023 - 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.899G>A r.(?) p.(Arg300His) Unknown - VUS g.36614820C>T - - - RAG2_000023 - 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.909G>T r.(?) p.(Glu303Asp) Unknown - VUS g.36614810C>A g.36593260C>A RAG2(NM_001243786.1):c.909G>T (p.E303D) - RAG2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938A>G r.(?) p.(His313Arg) Unknown - VUS g.36614781T>C - - - RAG2_000026 - 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.1074G>A r.(?) p.(=) Unknown - likely benign g.36614645C>T g.36593095C>T RAG2(NM_001243786.1):c.1074G>A (p.E358=) - RAG2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095T>C r.(?) p.(=) Unknown - likely benign g.36614624A>G g.36593074A>G RAG2(NM_001243786.1):c.1095T>C (p.S365=) - RAG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095T>C r.(?) p.(=) Unknown - likely benign g.36614624A>G g.36593074A>G RAG2(NM_001243786.1):c.1095T>C (p.S365=) - RAG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127C>G r.(?) p.(Thr376Ser) Unknown - VUS g.36614592G>C g.36593042G>C RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S) - RAG2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127C>G r.(?) p.(Thr376Ser) Unknown - VUS g.36614592G>C g.36593042G>C RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S) - RAG2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158C>A r.(?) p.(Phe386Leu) Unknown - likely benign g.36614561G>T g.36593011G>T RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L) - RAG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1158C>A r.(?) p.(Phe386Leu) Unknown - benign g.36614561G>T g.36593011G>T RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L) - RAG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158C>A r.(?) p.(Phe386Leu) Parent #1 - likely benign g.36614561G>T g.36593011G>T - - RAG2_000003 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34629171 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1191T>C r.(?) p.(=) Unknown - likely benign g.36614528A>G g.36592978A>G RAG2(NM_001243786.1):c.1191T>C (p.D397=) - RAG2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198G>C r.(?) p.(Asp400His) Unknown - VUS g.36614521C>G g.36592971C>G RAG2(NM_001243786.2):c.1198G>C (p.D400H) - RAG2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1247G>T r.(?) p.(Trp416Leu) Parent #1 - VUS g.36614472C>A g.36592922C>A - - RAG2_000017 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922572 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.1352G>C r.(?) p.(Gly451Ala) Unknown - likely pathogenic g.36614367C>G - - - RAG2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1442A>G r.(?) p.(His481Arg) Both (homozygous) - pathogenic g.36614277T>C g.36592727T>C - - RAG2_000002 - - - - Germline yes - - - - DNA SEQ-NG blood amplicon sequencing IMD104 - - - M yes Turkey Turkısh 00y09m - - - 1 Sinem Firtina
-?/. - c.1449G>A r.(?) p.(=) Unknown - likely benign g.36614270C>T g.36592720C>T RAG2(NM_001243786.1):c.1449G>A (p.E483=) - RAG2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492A>T r.(?) p.(Lys498*) Unknown - VUS g.36614227T>A g.36592677T>A - - RAG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1504A>G r.(?) p.(Met502Val) Unknown - VUS g.36614215T>C g.36592665T>C RAG2(NM_001243786.1):c.1504A>G (p.M502V) - RAG2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1516C>T r.(?) p.(Arg506Cys) Unknown - VUS g.36614203G>A g.36592653G>A RAG2(NM_001243786.2):c.1516C>T (p.R506C) - RAG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1565T>G r.(?) p.(Leu522Arg) Unknown - VUS g.36614154A>C - - - RAG2_000025 - 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
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