Unique variants in gene RNASEH2B

Information The variants shown are described using the NM_024570.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. 1 1 c.31dupG - r.(?) p.(Val11Glyfs*32) g.51484243dup g.50910107dupG - - RNASEH2B_000032 - - - - Germline - - - - - Lampros Mavrogiannis
+?/+? 1 1 c.53T>C - r.(?) p.(Phe18Ser) g.51484265T>C g.50910129T>C - - RNASEH2B_000037 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - - - Johan den Dunnen
+/. 1 1i c.64+1G>A - r.spl? p.? g.51484277G>A g.50910141G>A - - RNASEH2B_000030 - - - - Germline - - - - - Lampros Mavrogiannis
-?/. 1 - c.65-14C>T likely benign r.(=) p.(=) g.51501529C>T - RNASEH2B(NM_024570.3):c.65-14C>T - RNASEH2B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.128C>A - r.(?) p.(Pro43His) g.51501606C>A g.50927470C>A - - RNASEH2B_000011 - - - - Unknown - - - - - Johan den Dunnen
+/. 2 2 c.132T>A - r.(?) p.(Cys44*) g.51501610T>A g.50927474T>A - - RNASEH2B_000006, RNASEH2B_000012 - PubMed: Crow 2006 - - Unknown - - - - - Johan den Dunnen
+?/+? 1 2i c.136_136+1insT - r.spl? p.? g.51501614_51501615insT - c.136+1 inst (IVS 2-3) - RNASEH2B_000038 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - Johan den Dunnen
+?/+?, +/. 8 2i c.136+1delG - r.spl? p.(=), p.? g.51501615delG g.50927479delG - - RNASEH2B_000028 - PubMed: Rice 2007, Prof. YJ Crow, Univ Manchester, unpublished - - Unknown, Germline - - - - - Johan den Dunnen, Lampros Mavrogiannis
-?/. 1 - c.156G>A likely benign r.(?) p.(=) g.51503630G>A - RNASEH2B(NM_024570.3):c.156G>A (p.L52=) - RNASEH2B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.172C>T - r.(?) p.(Gln58*) g.51503646C>T g.50929510C>T - - RNASEH2B_000013 - - - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.173A>G likely benign r.(?) p.(Gln58Arg) g.51503647A>G - RNASEH2B(NM_001142279.2):c.173A>G (p.Q58R) - RNASEH2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 3 c.179T>G pathogenic (recessive) r.(?) p.(Leu60Arg) g.51503653T>G g.50929517T>G - - RNASEH2B_000007, RNASEH2B_000014 - PubMed: Crow 2006 - - Germline, Unknown - - - - - Johan den Dunnen
-/. 1 - c.189A>G benign r.(?) p.(=) g.51503663A>G - RNASEH2B(NM_024570.3):c.189A>G (p.V63=) - RNASEH2B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.218G>T - r.(?) p.(Trp73Leu) g.51503692G>T g.50929556G>T - - RNASEH2B_000015 - - - - Unknown - - - - - Johan den Dunnen
+?/+?, +/. 5 3i c.244+1G>T - r.spl? p.(=), p.? g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown, Germline - - - - - Johan den Dunnen, Lampros Mavrogiannis
-/. 1 - c.245-24C>T benign r.(=) p.(=) g.51504795C>T - RNASEH2B(NM_024570.3):c.245-24C>T - RNASEH2B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.247G>A - r.(?) p.(Gly83Ser) g.51504821G>A g.50930685G>A - - RNASEH2B_000016 - - - - Unknown - - - - - Johan den Dunnen
+/. 2 4 c.257A>G pathogenic (recessive) r.(?) p.(His86Arg) g.51504831A>G g.50930695A>G - - RNASEH2B_000004, RNASEH2B_000017 - PubMed: Crow 2006 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 4 c.263C>G - r.(?) p.(Ala88Gly) g.51504837C>G g.50930701C>G - - RNASEH2B_000033 - - - - Germline - - - - - Lampros Mavrogiannis
?/. 1 - c.269C>T VUS r.(?) p.(Pro90Leu) g.51504843C>T - RNASEH2B(NM_001142279.2):c.269C>T (p.(Pro90Leu)) - RNASEH2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.322-54T>G benign r.(=) p.(=) g.51508967T>G - RNASEH2B(NM_024570.3):c.322-54T>G - RNASEH2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.356A>G likely pathogenic r.(?) p.(Asp119Gly) g.51509055A>G - - - RNASEH2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+?, +/. 2 5 c.412C>T - r.(?) p.(Leu138Phe) g.51509111C>T g.50934975C>T - - RNASEH2B_000018 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline, Unknown - - - - - Johan den Dunnen
+?/. 1 5 c.436G>A - r.spl? p.(Gly146Ser) g.51509135G>A g.50934999G>A - - RNASEH2B_000031 - - - - Germline - - - - - Lampros Mavrogiannis
+?/+? 1 5i c.436+1G>T - r.spl? p.(=) g.51509136G>T g.50935000G>T - - RNASEH2B_000039 - PubMed: Rice 2007 - - Unknown - - - - - Johan den Dunnen
-?/. 3 - c.455A>G likely benign r.(?) p.(Asn152Ser) g.51517475A>G - RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S) - RNASEH2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/., +?/. 2 6 c.476G>T - r.(?) p.(Ser159Ile) g.51517496G>T g.50943360G>T - - RNASEH2B_000019 - - - - Unknown, Germline - - - - - Johan den Dunnen, Lampros Mavrogiannis
+/. 4 6 c.485A>C pathogenic (recessive) r.(?) p.(Lys162Thr) g.51517505A>C g.50943369A>C - - RNASEH2B_000001, RNASEH2B_000020 - PubMed: Crow 2006 - - Germline, Unknown - - - - - Lampros Mavrogiannis, Johan den Dunnen
+/. 5 6 c.488C>T pathogenic (recessive) r.(?) p.(Thr163Ile) g.51517508C>T g.50943372C>T - - RNASEH2B_000005, RNASEH2B_000021 - PubMed: Crow 2006 - - Germline, Unknown - - - - - Johan den Dunnen, Lampros Mavrogiannis
+?/. 1 6 c.498G>T - r.(?) p.(Trp166Cys) g.51517518G>T g.50943382G>T - - RNASEH2B_000026 - - - - Germline - - - - - Lampros Mavrogiannis
+?/+?, +/. 3 6i c.510+1G>A pathogenic (recessive) r.spl?, r.spl p.(=), p.? g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Rice 2007, PubMed: Crow 2006 - - Unknown, Germline - - - - - Johan den Dunnen
+?/+?, +/., +/+?, +?/. 49 7 c.529G>A pathogenic (recessive), pathogenic r.(?) p.(Ala177Thr) g.51519581G>A g.50945445G>A RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T) - RNASEH2B_000003, RNASEH2B_000008, RNASEH2B_000010, RNASEH2B_000022 VKGL data sharing initiative Nederland, heterozygous mutation de novo, ClinVar-1262, 2 more items Prof. YJ Crow, Univ Manchester, unpublished, PubMed: Rice 2007, PubMed: Crow 2006, 1 more item - rs75184679 Unknown, Germline, CLASSIFICATION record, De novo yes 1/38 patients - - - Johan den Dunnen, Lampros Mavrogiannis, VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Birgit Sikkema-Raddatz, VKGL-NL_VUmc
+/. 1 7 c.547G>A - r.(?) p.(Val183Met) g.51519599G>A g.50945463G>A - - RNASEH2B_000023 - - - - Unknown - - - - - Johan den Dunnen
+/., +?/. 6 7 c.554T>G pathogenic (recessive), likely pathogenic r.(?) p.(Val185Gly) g.51519606T>G g.50945470T>G - - RNASEH2B_000002, RNASEH2B_000024 VKGL data sharing initiative Nederland, ClinVar-1263 PubMed: Crow 2006, Rump et al accepted for publication in BMC Medical Genomics - rs74555752 Germline, CLASSIFICATION record, Unknown yes 1/38 patients - - - Johan den Dunnen, VKGL-NL, Birgit Sikkema-Raddatz
-?/. 1 7 c.555C>G - r.(?) p.(=) g.51519607C>G g.50945471C>G - - RNASEH2B_000035 heterozygous variant - - - Germline - - - - - Lampros Mavrogiannis
?/. 2 - c.562C>T VUS r.(?) p.(Arg188Trp) g.51519614C>T - RNASEH2B(NM_001142279.2):c.562C>T (p.R188W) - RNASEH2B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+?/+? 1 7i c.616+1G>A - r.spl? p.? g.51519669G>A g.50945533G>A - - RNASEH2B_000041 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - - - Johan den Dunnen
-/. 1 - c.617-30del benign r.(=) p.(=) g.51522093del - RNASEH2B(NM_024570.3):c.617-30delT - RNASEH2B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 8 c.632A>G - r.(?) p.(Tyr211Cys) g.51522138A>G g.50948002A>G - - RNASEH2B_000034 - - - - Germline - - - - - Lampros Mavrogiannis
+?/. 1 8 c.634G>A - r.(?) p.(Ala212Thr) g.51522140G>A g.50948004G>A - - RNASEH2B_000027 - - - - Germline - - - - - Lampros Mavrogiannis
+/. 2 8 c.655T>C - r.(?) p.(Tyr219His) g.51522161T>C g.50948025T>C - - RNASEH2B_000025 - PubMed: Crow 2006 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 1 8 c.685T>C - r.(?) p.(Ser229Pro) g.51522191T>C g.50948055T>C - - RNASEH2B_000009 compound heterozygous with c.529G>A - - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.697A>C likely benign r.(?) p.(Lys233Gln) g.51522203A>C - RNASEH2B(NM_024570.3):c.697A>C (p.K233Q) - RNASEH2B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.756A>G likely benign r.(?) p.(=) g.51528055A>G - RNASEH2B(NM_024570.3):c.756A>G (p.S252=) - RNASEH2B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.762G>A likely benign r.(?) p.(=) g.51528061G>A - RNASEH2B(NM_024570.3):c.762G>A (p.E254=) - RNASEH2B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.787A>G VUS r.(?) p.(Thr263Ala) g.51528086A>G - RNASEH2B(NM_024570.3):c.787A>G (p.T263A) - RNASEH2B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.822+6T>C benign r.(=) p.(=) g.51528127T>C - RNASEH2B(NM_024570.3):c.822+6T>C - RNASEH2B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.823-17C>T benign r.(=) p.(=) g.51530477C>T - RNASEH2B(NM_024570.3):c.823-17C>T - RNASEH2B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.827dup VUS r.(?) p.(Asn276Lysfs*2) g.51530498dup - RNASEH2B(NM_024570.3):c.827dupA (p.N276Kfs*2) - RNASEH2B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/., ./. 3 - c.859G>T likely benign, benign r.(?) p.(Ala287Ser) g.51530530G>T g.50956394G>T RNASEH2B(NM_024570.3):c.859G>T (p.A287S), NM_024570.3(RNASEH2B):c.859G>T p.(Ala287Ser) - RNASEH2B_000042 VKGL data sharing initiative Nederland, variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, Marjolijn JL Ligtenberg
?/. 1 - c.876T>G VUS r.(?) p.(Ser292Arg) g.51530547T>G - RNASEH2B(NM_024570.3):c.876T>G (p.S292R) - RNASEH2B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.925del benign r.(?) p.(Ile309Leufs*26) g.51530596del - RNASEH2B(NM_024570.3):c.925delA (p.I309Lfs*26) - RNASEH2B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.925dup benign r.(?) p.(Ile309Asnfs*8) g.51530596dup - RNASEH2B(NM_024570.3):c.925dupA (p.I309Nfs*8) - RNASEH2B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 11 c.925dupA - r.? p.(Ile309Asnfs*8) g.51530596dup g.50956460dupA - - RNASEH2B_000036 with biallelic causative mutations in RNASEH2C or SAMHD1, heterozygous variant - - - Germline - - - - - Lampros Mavrogiannis
-?/. 1 - c.928G>A likely benign r.(?) p.(Gly310Arg) g.51530599G>A - RNASEH2B(NM_024570.3):c.928G>A (p.G310R) - RNASEH2B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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