"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226569	NM_004006.3(DMD):c.*38G>A	DMD	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 201754	NM_004006.3(DMD):c.23_35del	DMD (D1223fs +4 more)	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 504876	NM_004006.3(DMD):c.*24G>A	DMD (D1224N +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 94446	NM_004006.3(DMD):c.10789C>T (p.Leu3597=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +5 more	GBenign/Likely benign
Select item 228600	NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)	DMD (T3408I +10 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 94856	NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)	DMD (F3228L +8 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 94854	NM_004006.3(DMD):c.9649+15T>C	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 227312	NM_004006.3(DMD):c.9564-6T>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 228596	NM_004006.3(DMD):c.9362-3C>T	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 228599	NM_004006.3(DMD):c.9225-5819G>T	DMD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 166667	NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)	DMD (R2937Q +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +3 more	GBenign
Select item 11269	NM_004006.3(DMD):c.8762A>G (p.His2921Arg)	DMD (H2921R +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 11268	NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)	DMD (N2912D +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 11267	NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)	DMD (E2910V +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 228595	NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)	DMD (V2861A +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 226568	NM_004006.3(DMD):c.8218-798G>A	DMD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 94783	NM_004006.3(DMD):c.8027+11C>T	DMD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 228331	NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del	DMD, LOC129391296	Deletion	Muscular dystrophy	GPathogenic
Select item 94776	NM_004006.3(DMD):c.7728T>C (p.Asn2576=)	DMD	Single nucleotide variant (synonymous variant)	Becker muscular dystrophy +5 more	GBenign
Select item 227311	NM_004006.3(DMD):c.7660+15A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 94771	NM_004006.3(DMD):c.7653G>A (p.Thr2551=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 227310	NM_004006.3(DMD):c.7596C>T (p.Thr2532=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 94767	NM_004006.3(DMD):c.7542+13A>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +4 more	GBenign/Likely benign
Select item 284947	NM_004006.3(DMD):c.7521C>T (p.Asn2507=)	DMD	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94765	NM_004006.3(DMD):c.7476T>C (p.Val2492=)	DMD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 667106	NM_004006.3(DMD):c.7464G>A (p.Leu2488=)	DMD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 228594	NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)	DMD (M2466T +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 227309	NM_004006.3(DMD):c.7244G>A (p.Arg2415His)	DMD (R2415H +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 94757	NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	DMD (A2395T +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 166706	NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)	DMD (K2366Q +3 more)	Single nucleotide variant (missense variant +2 more)	Duchenne muscular dystrophy +3 more	GBenign
Select item 94747	NM_004006.3(DMD):c.6828C>T (p.Pro2276=)	DMD	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197522	NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)	DMD (R2191W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 666822	NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)	DMD	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GUncertain significance
Select item 94741	NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)	DMD (R2155W +5 more)	Single nucleotide variant (missense variant +1 more)	Becker muscular dystrophy +5 more	GBenign/Likely benign
Select item 94703	NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)	DMD (R2108C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +5 more	GBenign/Likely benign
Select item 228593	NM_004006.3(DMD):c.6118-13T>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 94679	NM_004006.3(DMD):c.5724T>C (p.Asp1908=)	DMD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 197414	NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)	DMD (D1908V +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 180314	NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)	DMD (A1901T +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 94675	NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)	DMD (E1874K +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 264026	NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)	DMD (Q1829E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 228592	NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)	DMD (E1826Q +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226567	NM_004006.3(DMD):c.5265C>T (p.Pro1755=)	DMD	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 94657	NM_004006.3(DMD):c.5234G>A (p.Arg1745His)	DMD (R1745H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GBenign
Select item 228591	NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)	DMD (D1736E +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 94656	NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)	DMD (R1728C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GConflicting classifications of pathogenicity
Select item 94655	NM_004006.3(DMD):c.5181A>T (p.Ile1727=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 94648	NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)	DMD (N1672K +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 166757	NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)	DMD (W1670C +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94642	NM_004006.3(DMD):c.4878G>T (p.Val1626=)	DMD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 94618	NM_004006.3(DMD):c.4275A>G (p.Glu1425=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +3 more	GBenign
Select item 517355	NM_004006.3(DMD):c.4234-12T>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +1 more	GBenign/Likely benign
Select item 94617	NM_004006.3(DMD):c.4234-13A>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 228588	NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg)	DMD (Q1392R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 94615	NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)	DMD (F1388V +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 94611	NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)	DMD (L1365F +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228587	NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)	DMD (R1361T +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 94610	NM_004006.3(DMD):c.4072-245C>T	DMD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 94608	NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)	DMD (R1324C +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 222546	NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)	DMD (G1298R +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 228586	NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)	DMD (H1269Y +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 285018	NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)	DMD (W1265S +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +2 more	GConflicting classifications of pathogenicity
Select item 94604	NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)	DMD (T1245I +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GBenign
Select item 94603	NM_004006.3(DMD):c.3705C>T (p.Ala1235=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +4 more	GBenign
Select item 94587	NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)	DMD (T1136S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +5 more	GBenign/Likely benign
Select item 201760	NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)	DMD (N1109I +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GConflicting classifications of pathogenicity
Select item 228580	NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)	DMD (L1094S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 227308	NM_004006.3(DMD):c.3270G>A (p.Gln1090=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 228584	NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)	DMD (R1028C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94548	NM_004006.3(DMD):c.3021G>A (p.Ser1007=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +4 more	GBenign
Select item 228582	NM_004006.3(DMD):c.2950-9G>T	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 506134	NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)	DMD (R943S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 201745	NM_004006.3(DMD):c.2734G>A (p.Val912Met)	DMD (V912M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 166842	NM_004006.3(DMD):c.2645A>G (p.Asp882Gly)	DMD (D882G +1 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +3 more	GBenign
Select item 94528	NM_004006.3(DMD):c.2623-11C>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 227307	NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)	DMD (P857S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 195493	NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)	DMD (T847A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94516	NM_004006.3(DMD):c.2490C>T (p.Asn830=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +4 more	GConflicting classifications of pathogenicity
Select item 94510	NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)	DMD (N797K +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GBenign/Likely benign
Select item 94509	NM_004006.3(DMD):c.2386G>A (p.Val796Ile)	DMD (V673I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 137116	NM_004006.3(DMD):c.2380+11G>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +2 more	GBenign
Select item 194844	NM_004006.3(DMD):c.2261G>T (p.Gly754Val)	DMD (G754V +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 94495	NM_004006.3(DMD):c.2168+13T>C	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 94494	NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)	DMD (T715S +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GBenign/Likely benign
Select item 94487	NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)	DMD (S666L +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 667105	NM_004006.3(DMD):c.1975G>A (p.Glu659Lys)	DMD (E659K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 94482	NM_004006.3(DMD):c.1869C>T (p.Leu623=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +4 more	GBenign
Select item 226566	NM_004006.3(DMD):c.1718C>T (p.Ala573Val)	DMD (A573V +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 228581	NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)	DMD (T565S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GUncertain significance
Select item 94476	NM_004006.3(DMD):c.1635A>G (p.Arg545=)	DMD	Single nucleotide variant (synonymous variant)	Becker muscular dystrophy +5 more	GBenign
Select item 382214	NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)	DMD (R506S +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 227306	NM_004006.3(DMD):c.1503A>G (p.Glu501=)	DMD	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 386402	NM_004006.3(DMD):c.1332-11C>T	DMD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 166863	NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)	DMD (T418S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 228579	NM_004006.3(DMD):c.1248A>T (p.Glu416Asp)	DMD (E416D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 94453	NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)	DMD (T409S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 239598	NM_004006.3(DMD):c.1159A>G (p.Met387Val)	DMD (M387V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282487	NM_004006.3(DMD):c.1095A>C (p.Gln365His)	DMD (Q365H +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 94805	NM_004006.3(DMD):c.837G>A (p.Thr279=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +5 more	GBenign
Select item 94784	NM_004006.3(DMD):c.802T>C (p.Leu268=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +4 more	GBenign/Likely benign

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