Full data view for gene RNASEH2B

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

146 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     
+/. 1 c.31dup r.(?) p.(Val11Glyfs*32) Maternal (confirmed) - pathogenic g.51484243dup g.50910107dup - - RNASEH2B_000032 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 1 c.53T>C r.(?) p.(Phe18Ser) Parent #1 - likely pathogenic g.51484265T>C g.50910129T>C - - RNASEH2B_000037 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - Argentina - 0 - - 1 Johan den Dunnen
+/. 1i c.64+1G>A r.spl? p.? Paternal (confirmed) - pathogenic g.51484277G>A g.50910141G>A - - RNASEH2B_000030 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
-?/. - c.65-14C>T r.(=) p.(=) Unknown - likely benign g.51501529C>T g.50927393C>T RNASEH2B(NM_024570.3):c.65-14C>T - RNASEH2B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.128C>A r.(?) p.(Pro43His) Both (homozygous) - pathogenic g.51501606C>A g.50927470C>A - - RNASEH2B_000011 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.132T>A r.(?) p.(Cys44*) Maternal (confirmed) - pathogenic g.51501610T>A g.50927474T>A - - RNASEH2B_000006 - PubMed: Crow 2006 - - Unknown - - - 0 - DNA SEQ - - AGS 16845400-F17 PubMed: Crow 2006 - - no United States European - 0 - - 1 Johan den Dunnen
+/. 2 c.132T>A r.(?) p.(Cys44*) Both (homozygous) - pathogenic g.51501610T>A g.50927474T>A - - RNASEH2B_000012 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136_136+1insT r.spl? p.? Parent #1 - likely pathogenic g.51501614_51501615insT g.50927478_50927479insT c.136+1 inst (IVS 2-3) - RNASEH2B_000038 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - Spanish - 0 - - 1 Johan den Dunnen
+/. 2i c.136+1del r.spl? p.(Gly46GlufsTer18) Maternal (confirmed) - pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Hungarian - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - French - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - - - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - - - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 2i c.136+1del r.spl? p.? Parent #1 - likely pathogenic g.51501615del g.50927479del - - RNASEH2B_000028 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
-?/. - c.156G>A r.(?) p.(Leu52=) Unknown - likely benign g.51503630G>A g.50929494G>A RNASEH2B(NM_024570.3):c.156G>A (p.L52=) - RNASEH2B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.172C>T r.(?) p.(Gln58*) Both (homozygous) - pathogenic g.51503646C>T g.50929510C>T - - RNASEH2B_000013 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.173A>G r.(?) p.(Gln58Arg) Unknown - likely benign g.51503647A>G g.50929511A>G RNASEH2B(NM_001142279.2):c.173A>G (p.Q58R) - RNASEH2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.179T>G r.(?) p.(Leu60Arg) Maternal (confirmed) - pathogenic (recessive) g.51503653T>G g.50929517T>G - - RNASEH2B_000007 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F18 PubMed: Crow 2006 - - no United States European - 0 - - 1 Johan den Dunnen
+/. 3 c.179T>G r.(?) p.(Leu60Arg) Both (homozygous) - pathogenic g.51503653T>G g.50929517T>G - - RNASEH2B_000014 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.189A>G r.(?) p.(Val63=) Unknown - benign g.51503663A>G g.50929527A>G RNASEH2B(NM_024570.3):c.189A>G (p.V63=) - RNASEH2B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.203A>G r.(?) p.(Glu68Gly) Unknown - - g.51503677A>G - RNASEH2B(NM_001142279.2):c.203A>G (p.E68G) - RNASEH2B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.218G>T r.(?) p.(Trp73Leu) Both (homozygous) - pathogenic g.51503692G>T g.50929556G>T - - RNASEH2B_000015 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.244+1G>T r.spl? p.? Maternal (confirmed) - pathogenic g.51503719G>T g.50929583G>T - - RNASEH2B_000029 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 3i c.244+1G>T r.spl? p.(=) Parent #1 - likely pathogenic g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Italian - 0 - - 1 Johan den Dunnen
+?/+? 3i c.244+1G>T r.spl? p.(=) Parent #2 - likely pathogenic g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 3i c.244+1G>T r.spl? p.(=) Parent #2 - likely pathogenic g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 3i c.244+1G>T r.spl? p.(=) Parent #2 - likely pathogenic g.51503719G>T g.50929583G>T c.243+1G>T - RNASEH2B_000029 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
-/. - c.245-24C>T r.(=) p.(=) Unknown - benign g.51504795C>T g.50930659C>T RNASEH2B(NM_024570.3):c.245-24C>T - RNASEH2B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.247G>A r.(?) p.(Gly83Ser) Both (homozygous) - pathogenic g.51504821G>A g.50930685G>A - - RNASEH2B_000016 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.257A>G r.(?) p.(His86Arg) Maternal (confirmed) - pathogenic (recessive) g.51504831A>G g.50930695A>G - - RNASEH2B_000004 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F11 PubMed: Crow 2006 - - no Algeria;Tunisia - - 0 - - 1 Johan den Dunnen
+/. 4 c.257A>G r.(?) p.(His86Arg) Both (homozygous) - pathogenic g.51504831A>G g.50930695A>G - - RNASEH2B_000017 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.263C>G r.(?) p.(Ala88Gly) Paternal (confirmed) - pathogenic g.51504837C>G g.50930701C>G - - RNASEH2B_000033 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
?/. - c.269C>T r.(?) p.(Pro90Leu) Unknown - VUS g.51504843C>T g.50930707C>T RNASEH2B(NM_001142279.2):c.269C>T (p.(Pro90Leu)) - RNASEH2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.322-54T>G r.(=) p.(=) Unknown - benign g.51508967T>G g.50934831T>G RNASEH2B(NM_024570.3):c.322-54T>G - RNASEH2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322-17A>G r.(=) p.(=) Unknown - VUS g.51509004A>G g.50934868A>G RNASEH2B(NM_001142279.2):c.322-17A>G - RNASEH2B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.356A>G r.(?) p.(Asp119Gly) Unknown - likely pathogenic g.51509055A>G g.50934919A>G - - RNASEH2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.412C>T r.(?) p.(Leu138Phe) Both (homozygous) - pathogenic g.51509111C>T g.50934975C>T - - RNASEH2B_000018 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 5 c.412C>T r.(?) p.(Leu138Phe) Parent #2 - likely pathogenic g.51509111C>T g.50934975C>T - - RNASEH2B_000018 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/. 5 c.436G>A r.spl? p.(Gly146Ser) Parent #2 - likely pathogenic g.51509135G>A g.50934999G>A - - RNASEH2B_000031 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 5i c.436+1G>T r.spl? p.(=) Parent #1 - likely pathogenic g.51509136G>T g.50935000G>T - - RNASEH2B_000039 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
-?/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - likely benign g.51517475A>G g.50943339A>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - likely benign g.51517475A>G g.50943339A>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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - likely benign g.51517475A>G g.50943339A>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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.476G>T r.(?) p.(Ser159Ile) Both (homozygous) - pathogenic g.51517496G>T g.50943360G>T - - RNASEH2B_000019 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+?/. 6 c.476G>T r.(?) p.(Ser159Ile) Paternal (inferred) - likely pathogenic g.51517496G>T g.50943360G>T - - RNASEH2B_000019 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 6 c.485A>C r.(?) p.(Lys162Thr) Both (homozygous) - pathogenic (recessive) g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F1 PubMed: Crow 2006 - - yes Morocco - - 0 - - 1 Johan den Dunnen
+/. 6 c.485A>C r.(?) p.(Lys162Thr) Both (homozygous) - pathogenic g.51517505A>C g.50943369A>C - - RNASEH2B_000020 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.485A>C r.(?) p.(Lys162Thr) Parent #1 - pathogenic g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 6 c.485A>C r.(?) p.(Lys162Thr) Parent #2 - pathogenic g.51517505A>C g.50943369A>C - - RNASEH2B_000001 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 6 c.488C>T r.(?) p.(Thr163Ile) Parent #1 - pathogenic (recessive) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F19 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.488C>T r.(?) p.(Thr163Ile) Both (homozygous) - pathogenic g.51517508C>T g.50943372C>T - - RNASEH2B_000021 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.488C>T r.(?) p.(Thr163Ile) Parent #2 - pathogenic g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 2 Lampros Mavrogiannis
+/. 6 c.488C>T r.(?) p.(Thr163Ile) Maternal (confirmed) - pathogenic (recessive) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F20 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.488C>T r.(?) p.(Thr163Ile) Parent #2 - pathogenic (recessive) g.51517508C>T g.50943372C>T - - RNASEH2B_000005 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F12 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+?/. 6 c.498G>T r.(?) p.(Trp166Cys) Maternal (confirmed) - likely pathogenic g.51517518G>T g.50943382G>T - - RNASEH2B_000026 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 6i c.510+1G>A r.spl? p.(=) Parent #1 - likely pathogenic g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - English - 0 - - 1 Johan den Dunnen
+?/+? 6i c.510+1G>A r.spl? p.(=) Parent #1 - likely pathogenic g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - ? (unknown) Unknown - 0 - - 1 Johan den Dunnen
+/. - c.510+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.51517531G>A g.50943395G>A - - RNASEH2B_000040 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F15 PubMed: Crow 2006 - - no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 ClinVar-1262 Rump et al accepted for publication in BMC Medical Genomics - rs75184679 Germline yes 1/38 patients - 0 - DNA SEQ-NG-I DNA isolated from Blood - AGS-2 - - - F yes - - - 0 - - 1 Birgit Sikkema-Raddatz
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F4 PubMed: Crow 2006 - - yes Algeria - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000008 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F21 PubMed: Crow 2006 - - no Canada;Hungary - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000010 heterozygous mutation de novo - - - De novo - - - 0 - DNA SEQ - - AGS - {PMID20131292:Ramantani 2010} - - - - - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000022 - - - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997: Rice2007} - - - - - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 10 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 single heterozygous mutation after partial testing - second remains uncharacterised - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 3 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 homozygosity for the TREX1 mutation c.341G>A as well, sufficient to be causative - unclear significance of RNASEH2B finding - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Egyptian - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #2 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 10 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 2 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Maternal (confirmed) - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - - - - Germline - - - 0 - DNA SEQ - - AGS - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - Argentina - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Hungarian - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - French - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - Prof. YJ Crow, Univ Manchester, unpublished - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - Prof. YJ Crow, Univ Manchester, unpublished - - Unknown - - - 0 - DNA SEQ - - AGS - - - - - - German - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Italian - 0 - - 1 Johan den Dunnen
+/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Spanish - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - Unknown - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - - English - 0 - - 1 Johan den Dunnen
+?/+? 7 c.529G>A r.(?) p.(Ala177Thr) Unknown - likely pathogenic g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Rice 2007 - - Unknown - - - 0 - DNA SEQ - - AGS - {PMID17846997:Rice 2007} - - - ? (unknown) Unknown - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Unknown - pathogenic 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F18 PubMed: Crow 2006 - - no United States European - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Parent #2 - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F19 PubMed: Crow 2006 - - no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Ala177Thr) Paternal (confirmed) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F11 PubMed: Crow 2006 - - no Algeria;Tunisia - - 0 - - 1 Johan den Dunnen
+/. 7 c.529G>A r.(?) p.(Ala177Thr) Both (homozygous) - pathogenic (recessive) g.51519581G>A g.50945445G>A - - RNASEH2B_000003 - PubMed: Crow 2006 - - Germline - - - 0 - DNA SEQ - - AGS 16845400-F5 PubMed: Crow 2006 - - yes Morocco - - 0 - - 1 Johan den Dunnen
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