"Ambry Genetics"[submitter] AND "DNA2"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2892939	NM_001080449.3(DNA2):c.2993G>A (p.Arg998Gln)	DNA2 (R998Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2966410	NM_001080449.3(DNA2):c.2958G>C (p.Lys986Asn)	DNA2 (K986N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1701136	NM_001080449.3(DNA2):c.2872A>G (p.Ile958Val)	DNA2 (I958V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2619801	NM_001080449.3(DNA2):c.2776A>G (p.Ile926Val)	DNA2 (I926V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3272495	NM_001080449.3(DNA2):c.2755C>T (p.Leu919Phe)	DNA2 (L919F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2143419	NM_001080449.3(DNA2):c.2752A>G (p.Lys918Glu)	DNA2 (K918E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083290	NM_001080449.3(DNA2):c.2750C>G (p.Ala917Gly)	DNA2 (A917G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445782	NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys)	DNA2 (Q905K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2535939	NM_001080449.3(DNA2):c.2666A>G (p.Asn889Ser)	DNA2 (N889S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192579	NM_001080449.3(DNA2):c.2630C>A (p.Ser877Tyr)	DNA2 (S877Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2492790	NM_001080449.3(DNA2):c.2621C>T (p.Ala874Val)	DNA2 (A874V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1925609	NM_001080449.3(DNA2):c.2620G>A (p.Ala874Thr)	DNA2 (A874T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1931822	NM_001080449.3(DNA2):c.2582G>A (p.Arg861His)	DNA2 (R861H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1986292	NM_001080449.3(DNA2):c.2581C>T (p.Arg861Cys)	DNA2 (R861C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3020896	NM_001080449.3(DNA2):c.2577C>A (p.Asn859Lys)	DNA2 (N859K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2243013	NM_001080449.3(DNA2):c.2522C>T (p.Thr841Ile)	DNA2 (T841I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1970307	NM_001080449.3(DNA2):c.2494A>G (p.Lys832Glu)	DNA2 (K832E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2274780	NM_001080449.3(DNA2):c.2456C>T (p.Ala819Val)	DNA2 (A819V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2241335	NM_001080449.3(DNA2):c.2453G>T (p.Ser818Ile)	DNA2 (S818I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2081640	NM_001080449.3(DNA2):c.2402+1G>A	DNA2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2406471	NM_001080449.3(DNA2):c.2391C>A (p.Asn797Lys)	DNA2 (N797K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2081641	NM_001080449.3(DNA2):c.2361C>A (p.Asp787Glu)	DNA2 (D787E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332140	NM_001080449.3(DNA2):c.2303G>T (p.Ser768Ile)	DNA2 (S768I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2173178	NM_001080449.3(DNA2):c.2258G>A (p.Arg753His)	DNA2 (R753H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2788139	NM_001080449.3(DNA2):c.2214A>G (p.Ile738Met)	DNA2 (I738M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3272496	NM_001080449.3(DNA2):c.2189A>C (p.Glu730Ala)	DNA2 (E730A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312155	NM_001080449.3(DNA2):c.2114T>G (p.Val705Gly)	DNA2 (V705G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272797	NM_001080449.3(DNA2):c.1999G>T (p.Ala667Ser)	DNA2 (A667S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1469146	NM_001080449.3(DNA2):c.1997A>T (p.Tyr666Phe)	DNA2 (Y666F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356337	NM_001080449.3(DNA2):c.1983+1G>T	DNA2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3083289	NM_001080449.3(DNA2):c.1924G>A (p.Asp642Asn)	DNA2 (D642N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 41479	NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)	DNA2 (V637I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1398885	NM_001080449.3(DNA2):c.1823G>A (p.Ser608Asn)	DNA2 (S608N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 985121	NM_001080449.3(DNA2):c.1808T>C (p.Phe603Ser)	DNA2 (F603S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1465801	NM_001080449.3(DNA2):c.1795C>T (p.Arg599Cys)	DNA2 (R599C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083288	NM_001080449.3(DNA2):c.1760T>G (p.Val587Gly)	DNA2 (V587G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546921	NM_001080449.3(DNA2):c.1717A>G (p.Thr573Ala)	DNA2 (T573A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234586	NM_001080449.3(DNA2):c.1703A>G (p.Asn568Ser)	DNA2 (N568S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1417057	NM_001080449.3(DNA2):c.1687G>A (p.Asp563Asn)	DNA2 (D563N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280913	NM_001080449.3(DNA2):c.1543G>A (p.Gly515Ser)	DNA2 (G515S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466306	NM_001080449.3(DNA2):c.1294C>T (p.His432Tyr)	DNA2 (H432Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272494	NM_001080449.3(DNA2):c.1288A>G (p.Thr430Ala)	DNA2 (T430A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227755	NM_001080449.3(DNA2):c.1101C>A (p.His367Gln)	DNA2 (H367Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1473587	NM_001080449.3(DNA2):c.1078C>A (p.Gln360Lys)	DNA2 (Q360K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083287	NM_001080449.3(DNA2):c.1009A>G (p.Lys337Glu)	DNA2 (K337E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083286	NM_001080449.3(DNA2):c.1004A>G (p.Tyr335Cys)	DNA2 (Y335C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1219028	NM_001080449.3(DNA2):c.995T>G (p.Leu332Trp)	DNA2 (L332W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2959308	NM_001080449.3(DNA2):c.955C>A (p.Leu319Ile)	DNA2 (L319I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2073498	NM_001080449.3(DNA2):c.922A>G (p.Ile308Val)	DNA2 (I308V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2399969	NM_001080449.3(DNA2):c.869C>T (p.Thr290Ile)	DNA2 (T290I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3083292	NM_001080449.3(DNA2):c.728A>T (p.Asp243Val)	DNA2 (D243V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 450350	NM_001080449.3(DNA2):c.592C>T (p.Arg198Cys)	DNA2 (R198C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2113422	NM_001080449.3(DNA2):c.398G>A (p.Ser133Asn)	DNA2 (S133N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2275876	NM_001080449.3(DNA2):c.388A>G (p.Ile130Val)	DNA2 (I130V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2383643	NM_001080449.3(DNA2):c.385A>G (p.Ser129Gly)	DNA2 (S129G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2715473	NM_001080449.3(DNA2):c.319A>G (p.Thr107Ala)	DNA2 (T107A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 449765	NM_001080449.3(DNA2):c.287T>C (p.Ile96Thr)	DNA2 (I96T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2481554	NM_001080449.3(DNA2):c.271G>C (p.Val91Leu)	DNA2 (V91L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368235	NM_001080449.3(DNA2):c.179G>A (p.Gly60Glu)	DNA2 (G60E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405523	NM_001080449.3(DNA2):c.152C>T (p.Ala51Val)	DNA2 (A51V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2489048	NM_001080449.3(DNA2):c.85A>G (p.Lys29Glu)	DNA2 (K29E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 62