Unique variants in gene DNA2

Information The variants shown are described using the NM_001080449.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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 - c.68C>T likely benign r.(?) p.(Ala23Val) g.70231554G>A - DNA2(NM_001080449.2):c.68C>T (p.A23V) - DNA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 - c.74+4A>C pathogenic (recessive) r.spl p.? g.70231544T>G g.68471787T>G - - DNA2_000008 Minigene assay indicates impaired splicing although low levels of normal splicing remain Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
?/. 1 - c.152C>T ACMG: 3 r.(?) p.Ala51Val g.70229843G>A - - - DNA2_000004 ACMG grading: PM2,BP4 - - rs773427416 Germline - - - - - Andreas Laner
-/. 1 - c.357G>A benign r.(?) p.(=) g.70227964C>T - - - DNA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.461G>A likely benign r.(?) p.(Arg154His) g.70225550C>T - DNA2(NM_001080449.2):c.461G>A (p.(Arg154His)) - DNA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.653G>A likely benign r.(?) p.(Cys218Tyr) g.70218927C>T - DNA2(NM_001080449.2):c.653G>A (p.C218Y) - DNA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.720-4del likely benign r.spl? p.? g.70210019del - DNA2(NM_001080449.2):c.720-4del (p.?) - DNA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.720-4dup benign r.spl? p.? g.70210019dup - DNA2(NM_001080449.2):c.720-4dupT - DNA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.775A>G ACMG: 3 r.(?) p.Met259Val g.70209949T>C - - - DNA2_000005 not regarded causative for phenotype in patient, no second variante in DNA2 detected - - - Germline - - - - - Andreas Laner
-?/. 1 - c.791G>A likely benign r.(?) p.(Ser264Asn) g.70209933C>T - DNA2(NM_001080449.2):c.791G>A (p.S264N) - DNA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.878A>T VUS r.(?) p.(Lys293Met) g.70209846T>A - - - DNA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1058-6dup likely benign r.(=) p.(=) g.70204853dup - DNA2(NM_001080449.2):c.1058-6dupT - DNA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1465A>C likely benign r.(?) p.(Lys489Gln) g.70196949T>G - DNA2(NM_001080449.2):c.1465A>C (p.(Lys489Gln)) - DNA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 1 more item Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
+/. 1 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTCT pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 1 more item Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
-?/. 2 - c.1796G>A likely benign r.(?) p.(Arg599His) g.70192040C>T - DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1819C>G VUS r.(?) p.(Leu607Val) g.70192017G>C - - - DNA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1963A>G pathogenic (recessive) r.(?) p.(Thr655Ala) g.70191639T>C g.68431882T>C - - DNA2_000007 - Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
?/. 1 - c.1983C>T VUS r.(?) p.(=) g.70191619G>A - DNA2(NM_001080449.2):c.1983C>T (p.L661=) - DNA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2153G>T likely benign r.(?) p.(Cys718Phe) g.70190248C>A - DNA2(NM_001080449.2):c.2153G>T (p.(Cys718Phe)) - DNA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2272T>G likely benign r.(?) p.(Phe758Val) g.70182584A>C - - - DNA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2278A>G VUS r.(?) p.(Ile760Val) g.70182578T>C - DNA2(NM_001080449.2):c.2278A>G (p.(Ile760Val)) - DNA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2286T>G VUS r.(?) p.(Asp762Glu) g.70182570A>C - - - DNA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2697+2T>G VUS r.spl? p.? g.70181980A>C - DNA2(NM_001080449.2):c.2697+2T>G (p.?) - DNA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 20i c.3114+6delc - r.[2935_3114del; 2935_3116del; 2935_3121del; 2935_3134del; 2935_3136del] p.[Val979_Leu1038del; Val979Hisfs*2; Val979Ilefs*65; Val979Argfs*3; Val979Asnfs*60] g.70176460delg g.68416703delg p.(Val1065Ilefs*23) - DNA2_000001 WB severely reduced DNA2 protein PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - - - Fowzan Alkuraya
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