"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DNA2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379964	NM_001080449.3(DNA2):c.2785A>G (p.Lys929Glu)	DNA2 (K929E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 257344	NM_001080449.3(DNA2):c.2782G>A (p.Val928Ile)	DNA2 (V928I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1311873	NM_001080449.3(DNA2):c.2671C>T (p.Pro891Ser)	DNA2 (P891S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2029952	NM_001080449.3(DNA2):c.2627A>G (p.Tyr876Cys)	DNA2 (Y876C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 257343	NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)	DNA2 (F810L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy +3 more	GBenign/Likely benign
Select item 2042140	NM_001080449.3(DNA2):c.2335del (p.Ser779fs)	DNA2 (S779fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 449651	NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe)	DNA2 (C718F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 257342	NM_001080449.3(DNA2):c.1971G>A (p.Thr657=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 424948	NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)	DNA2 (R599H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 380533	NM_001080449.3(DNA2):c.1362G>A (p.Ser454=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 516786	NM_001080449.3(DNA2):c.1058-6del	DNA2	Deletion (intron variant)	not specified +1 more	GBenign
Select item 559219	NM_001080449.3(DNA2):c.720-15dup	DNA2	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 559218	NM_001080449.3(DNA2):c.720-4del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +2 more	GBenign/Likely benign
Select item 257346	NM_001080449.3(DNA2):c.507C>A (p.Ala169=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 257345	NM_001080449.3(DNA2):c.357G>A (p.Leu119=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign