"GeneDx"[submitter] AND "DNA2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 185

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1191352	NM_001080449.3(DNA2):c.*202del	DNA2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1182638	NM_001080449.3(DNA2):c.*89A>T	DNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1700971	NM_001080449.3(DNA2):c.3122A>G (p.Asp1041Gly)	DNA2, LOC132089842 (D1041G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1292160	NM_001080449.3(DNA2):c.3115-21T>C	DNA2, LOC132089842	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278246	NM_001080449.3(DNA2):c.3115-99del	DNA2, LOC132089842	Deletion (intron variant)	not provided	GBenign
Select item 1273839	NM_001080449.3(DNA2):c.3115-169del	DNA2	Deletion (intron variant)	not provided	GBenign
Select item 683745	NM_001080449.3(DNA2):c.3114+307C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509310	NM_001080449.3(DNA2):c.3087G>A (p.Leu1029=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2578140	NM_001080449.3(DNA2):c.3059T>C (p.Leu1020Pro)	DNA2 (L1020P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673710	NM_001080449.3(DNA2):c.2968-269C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676208	NM_001080449.3(DNA2):c.2967+70G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426652	NM_001080449.3(DNA2):c.2828A>T (p.Tyr943Phe)	DNA2 (Y943F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508245	NM_001080449.3(DNA2):c.2826G>A (p.Pro942=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1524882	NM_001080449.3(DNA2):c.2825C>T (p.Pro942Leu)	DNA2 (P942L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450454	NM_001080449.3(DNA2):c.2815A>G (p.Ile939Val)	DNA2 (I939V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673125	NM_001080449.3(DNA2):c.2788-156T>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244604	NM_001080449.3(DNA2):c.2788-274TG[10]	DNA2	Microsatellite (intron variant)	not provided	GBenign
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 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 387452	NM_001080449.3(DNA2):c.2706G>A (p.Ala902=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1174352	NM_001080449.3(DNA2):c.2698-64G>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224235	NM_001080449.3(DNA2):c.2698-97A>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385856	NM_001080449.3(DNA2):c.2697+18T>C	DNA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 420645	NM_001080449.3(DNA2):c.2697+13_2697+17delinsTT	DNA2	Indel (intron variant)	not specified	GLikely benign
Select item 429200	NM_001080449.3(DNA2):c.2697+13del	DNA2	Deletion (intron variant)	Mitochondrial DNA deletion syndrome with progressive myopathy +2 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 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 813671	NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys)	DNA2 (Y873C)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1223786	NM_001080449.3(DNA2):c.2473G>A (p.Val825Met)	DNA2 (V825M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 701817	NM_001080449.3(DNA2):c.2430C>T (p.Phe810=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 1185708	NM_001080449.3(DNA2):c.2393G>A (p.Arg798His)	DNA2 (R798H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390556	NM_001080449.3(DNA2):c.2358G>A (p.Gly786=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1308299	NM_001080449.3(DNA2):c.2339G>A (p.Arg780Gln)	DNA2 (R780Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723528	NM_001080449.3(DNA2):c.2269G>A (p.Asp757Asn)	DNA2 (D757N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314526	NM_001080449.3(DNA2):c.2230A>G (p.Met744Val)	DNA2 (M744V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423229	NM_001080449.3(DNA2):c.2216T>C (p.Val739Ala)	DNA2 (V739A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307048	NM_001080449.3(DNA2):c.2209-12_2209-4del	DNA2	Deletion (intron variant)	not provided	GUncertain significance
Select item 510084	NM_001080449.3(DNA2):c.2209-11C>T	DNA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 676740	NM_001080449.3(DNA2):c.2209-33G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675539	NM_001080449.3(DNA2):c.2209-51del	DNA2	Deletion (intron variant)	not provided	GBenign
Select item 673709	NM_001080449.3(DNA2):c.2209-278G>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220705	NM_001080449.3(DNA2):c.2209-302CAAA[4]	DNA2	Microsatellite (intron variant)	not provided	GBenign
Select item 671067	NM_001080449.3(DNA2):c.2208+259T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675594	NM_001080449.3(DNA2):c.2208+129C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233228	NM_001080449.3(DNA2):c.2208+38T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310743	NM_001080449.3(DNA2):c.2175del (p.Ser725_Leu726insTer)	DNA2	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 1312785	NM_001080449.3(DNA2):c.2093G>A (p.Arg698His)	DNA2 (R698H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419100	NM_001080449.3(DNA2):c.1999G>A (p.Ala667Thr)	DNA2 (A667T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 673694	NM_001080449.3(DNA2):c.1984-216C>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669725	NM_001080449.3(DNA2):c.1984-278A>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187356	NM_001080449.3(DNA2):c.1983+285C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383640	NM_001080449.3(DNA2):c.1983+12A>C	DNA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely 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 419061	NM_001080449.3(DNA2):c.1939G>A (p.Val647Met)	DNA2 (V647M)	Single nucleotide variant (missense variant +1 more)	not provided	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 257341	NM_001080449.3(DNA2):c.1899G>A (p.Ala633=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 817733	NM_001080449.3(DNA2):c.1817del (p.Tyr606fs)	DNA2 (Y606fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 1801972	NM_001080449.3(DNA2):c.1778A>G (p.Asp593Gly)	DNA2 (D593G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389620	NM_001080449.3(DNA2):c.1763+14A>C	DNA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1311959	NM_001080449.3(DNA2):c.1754C>T (p.Thr585Met)	DNA2 (T585M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306487	NM_001080449.3(DNA2):c.1728A>T (p.Gly576=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 669153	NM_001080449.3(DNA2):c.1719C>T (p.Thr573=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1331288	NM_001080449.3(DNA2):c.1718C>T (p.Thr573Ile)	DNA2 (T573I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710083	NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)	DNA2 (I571fs)	Duplication (frameshift variant +1 more)	Rothmund-Thomson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 385006	NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)	DNA2 (N550S)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8 +2 more	GBenign/Likely benign
Select item 675593	NM_001080449.3(DNA2):c.1647-34C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673693	NM_001080449.3(DNA2):c.1647-342C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669723	NM_001080449.3(DNA2):c.1646+188A>G	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265529	NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)	DNA2 (D548fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 506859	NM_001080449.3(DNA2):c.1503A>G (p.Gln501=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 508407	NM_001080449.3(DNA2):c.1491A>G (p.Leu497=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2054871	NM_001080449.3(DNA2):c.1487A>G (p.Tyr496Cys)	DNA2 (Y496C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384257	NM_001080449.3(DNA2):c.1476T>C (p.Cys492=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2575950	NM_001080449.3(DNA2):c.1429A>T (p.Ser477Cys)	DNA2 (S477C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 679047	NM_001080449.3(DNA2):c.1416-11T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676739	NM_001080449.3(DNA2):c.1416-117C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669720	NM_001080449.3(DNA2):c.1416-188A>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221889	NM_001080449.3(DNA2):c.1416-224A>G	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277554	NM_001080449.3(DNA2):c.1416-246_1416-245dup	DNA2	Duplication (intron variant)	not provided	GBenign
Select item 1188604	NM_001080449.3(DNA2):c.1416-246_1416-244dup	DNA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1273363	NM_001080449.3(DNA2):c.1416-241T>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222920	NM_001080449.3(DNA2):c.1416-242_1416-241insTG	DNA2	Insertion (intron variant)	not provided	GBenign
Select item 1208275	NM_001080449.3(DNA2):c.1416-242_1416-241insTTG	DNA2	Insertion (intron variant)	not provided	GLikely benign
Select item 1236839	NM_001080449.3(DNA2):c.1416-247A>G	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675537	NM_001080449.3(DNA2):c.1415+107C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218729	NM_001080449.3(DNA2):c.1415+59C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386923	NM_001080449.3(DNA2):c.1415+16A>C	DNA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3368996	NM_001080449.3(DNA2):c.1399A>T (p.Met467Leu)	DNA2 (M467L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712010	NM_001080449.3(DNA2):c.1370A>G (p.Asn457Ser)	DNA2 (N457S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1205277	NM_001080449.3(DNA2):c.1221-245C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669719	NM_001080449.3(DNA2):c.1220+305A>G	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282137	NM_001080449.3(DNA2):c.1220+179dup	DNA2	Duplication (intron variant)	not provided	GBenign
Select item 1182344	NM_001080449.3(DNA2):c.1220+195del	DNA2	Deletion (intron variant)	not provided	GBenign
Select item 1225885	NM_001080449.3(DNA2):c.1220+182T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2