"Ambry Genetics"[submitter] AND "DMD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 641807	NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)	DMD (R613* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GUncertain significance
Select item 455858	NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)	DMD (T3675A +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3223639	NM_004006.3(DMD):c.11015-3A>G	DMD	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 952891	NM_004006.3(DMD):c.11015-5T>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2565091	NM_004006.3(DMD):c.10998C>T (p.Ser3666=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1095948	NM_004006.3(DMD):c.10995C>T (p.Asn3665=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1790853	NM_004006.3(DMD):c.10978A>G (p.Met3660Val)	DMD (M1090V +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 409895	NM_004006.3(DMD):c.10975G>A (p.Val3659Met)	DMD (V3659M +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 430509	NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg)	DMD (T3652R +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1003362	NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)	DMD (D1081N +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 263511	NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)	DMD (S3647N +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1310448	NM_004006.3(DMD):c.10932TCT[1] (p.Leu3646del)	DMD (L1076del +11 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450353	NM_004006.3(DMD):c.10929A>C (p.Glu3643Asp)	DMD (E3635D +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 289234	NM_004006.3(DMD):c.10911G>A (p.Ser3637=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 386803	NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)	DMD (R3630Q +11 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1540670	NM_004006.3(DMD):c.10872T>C (p.Ser3624=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 2440851	NM_004006.3(DMD):c.10864G>C (p.Asp3622His)	DMD (D1052H +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 618603	NM_004006.3(DMD):c.10843_10845del (p.Ser3615del)	DMD (S1142del +11 more)	Deletion (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 518897	NM_004006.3(DMD):c.10836C>T (p.Ser3612=)	DMD	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1786850	NM_004006.3(DMD):c.10831G>T (p.Val3611Leu)	DMD (V1138L +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 772233	NM_004006.3(DMD):c.10830G>A (p.Thr3610=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3223638	NM_004006.3(DMD):c.10822G>A (p.Gly3608Ser)	DMD (G1038S +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 756370	NM_004006.3(DMD):c.10734C>A (p.Ile3578=)	DMD	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 455855	NM_004006.3(DMD):c.10725G>A (p.Arg3575=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 839880	NM_004006.3(DMD):c.10712G>A (p.Arg3571His)	DMD (R1001H +11 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GConflicting classifications of pathogenicity
Select item 598681	NM_004006.3(DMD):c.10677T>C (p.Ile3559=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1782067	NM_004006.3(DMD):c.10674C>T (p.Leu3558=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1651763	NM_004006.3(DMD):c.10659C>T (p.Pro3553=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1781382	NM_004006.3(DMD):c.10652A>G (p.Gln3551Arg)	DMD (Q2207R +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 94444	NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)	DMD (T480I +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3223637	NM_004006.3(DMD):c.10630G>A (p.Glu3544Lys)	DMD (E1071K +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780512	NM_004006.3(DMD):c.10624C>G (p.Pro3542Ala)	DMD (P3534A +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 455854	NM_004006.3(DMD):c.10620G>A (p.Pro3540=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 526082	NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)	DMD (L3539V +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 282880	NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)	DMD (E3532K +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 415853	NM_004006.3(DMD):c.10593C>T (p.His3531=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 286157	NM_004006.3(DMD):c.10592A>G (p.His3531Arg)	DMD (H3531R +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 722016	NM_004006.3(DMD):c.10577G>A (p.Arg3526His)	DMD (R3518H +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 1777454	NM_004006.3(DMD):c.10527C>A (p.Ile3509=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2450344	NM_004006.3(DMD):c.10479G>A (p.Gln3493=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2565106	NM_004006.3(DMD):c.10450C>T (p.Pro3484Ser)	DMD (P1024S +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 513434	NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)	DMD (Q3481R +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2718828	NM_004006.3(DMD):c.10440C>G (p.Asn3480Lys)	DMD (N1007K +10 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1086701	NM_004006.3(DMD):c.10428C>T (p.Cys3476=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1770970	NM_004006.3(DMD):c.10307G>A (p.Arg3436His)	DMD (R3313H +10 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 283335	NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)	DMD (D3431N +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1579052	NM_004006.3(DMD):c.10290C>T (p.His3430=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 511533	NM_004006.3(DMD):c.10272G>A (p.Ser3424=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 94433	NM_004006.3(DMD):c.10262+1G>A	DMD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 3B +4 more	GConflicting classifications of pathogenicity
Select item 1769433	NM_004006.3(DMD):c.10261G>T (p.Ala3421Ser)	DMD (A3417S +8 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Pectus excavatum +11 more	GConflicting classifications of pathogenicity
Select item 978733	NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)	DMD (V2066I +8 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 415859	NM_004006.3(DMD):c.10224T>A (p.Thr3408=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1762540	NM_004006.3(DMD):c.10224-3C>T	DMD	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 855727	NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)	DMD (D3281E +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 567418	NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)	DMD (D3404G +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1141993	NM_004006.3(DMD):c.10203A>G (p.Leu3401=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1123211	NM_004006.3(DMD):c.10161G>A (p.Ala3387=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 368233	NM_004006.3(DMD):c.10146C>G (p.Thr3382=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 198638	NM_004006.3(DMD):c.10128A>G (p.Leu3376=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1082467	NM_004006.3(DMD):c.10089T>A (p.Thr3363=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1789552	NM_004006.3(DMD):c.10088C>G (p.Thr3363Ser)	DMD (T2019S +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783903	NM_004006.3(DMD):c.10068G>A (p.Met3356Ile)	DMD (M2012I +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 972494	NM_004006.3(DMD):c.10033C>G (p.Arg3345Gly)	DMD (R2004G +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 735566	NM_004006.3(DMD):c.9985C>T (p.Leu3329=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1540671	NM_004006.3(DMD):c.9981G>A (p.Arg3327=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1118963	NM_004006.3(DMD):c.9960A>G (p.Pro3320=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518985	NM_004006.3(DMD):c.9931G>A (p.Ala3311Thr)	DMD (A3311T +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 290614	NM_004006.3(DMD):c.9888C>T (p.Pro3296=)	DMD	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1141992	NM_004006.3(DMD):c.9879G>A (p.Val3293=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 385396	NM_004006.3(DMD):c.9834G>A (p.Ala3278=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GLikely benign
Select item 526115	NM_004006.3(DMD):c.9828C>T (p.Ile3276=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 2565099	NM_004006.3(DMD):c.9818A>C (p.Lys3273Thr)	DMD (K205T +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 94861	NM_004006.3(DMD):c.9804A>G (p.Gln3268=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1768179	NM_004006.3(DMD):c.9781C>G (p.Pro3261Ala)	DMD (P3138A +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1569123	NM_004006.3(DMD):c.9765G>A (p.Gly3255=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2085817	NM_004006.3(DMD):c.9742T>C (p.Leu3248=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign
Select item 1767990	NM_004006.3(DMD):c.9726C>T (p.Ile3242=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 964806	NM_004006.3(DMD):c.9716A>G (p.His3239Arg)	DMD (H1895R +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1103040	NM_004006.3(DMD):c.9690C>T (p.Asp3230=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 94856	NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)	DMD (F3228L +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1582882	NM_004006.3(DMD):c.9678A>G (p.Thr3226=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1374893	NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)	DMD (A155S +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 391330	NM_004006.3(DMD):c.9621T>C (p.Cys3207=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GLikely benign
Select item 1663945	NM_004006.3(DMD):c.9594T>A (p.Ser3198=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1433192	NM_004006.3(DMD):c.9584G>A (p.Arg3195His)	DMD (R1851H +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 198361	NM_004006.3(DMD):c.9564-5A>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GConflicting classifications of pathogenicity
Select item 511224	NM_004006.3(DMD):c.9563+4C>T	DMD	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 501803	NM_004006.3(DMD):c.9553G>A (p.Val3185Ile)	DMD (V3185I +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 764694	NM_004006.3(DMD):c.9522C>T (p.Cys3174=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1767232	NM_004006.3(DMD):c.9515C>A (p.Pro3172His)	DMD (P3049H +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450350	NM_004006.3(DMD):c.9511G>A (p.Val3171Ile)	DMD (V1830I +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 390785	NM_004006.3(DMD):c.9510C>T (p.Asn3170=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GLikely benign
Select item 3272375	NM_004006.3(DMD):c.9509A>G (p.Asn3170Ser)	DMD (N3162S +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 937429	NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)	DMD (L1827F +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 497382	NM_004006.3(DMD):c.9499A>G (p.Asn3167Asp)	DMD (N3167D +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1767133	NM_004006.3(DMD):c.9497A>G (p.Asn3166Ser)	DMD (N3043S +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 239614	NM_004006.3(DMD):c.9486G>A (p.Glu3162=)	DMD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1629977	NM_004006.3(DMD):c.9481C>T (p.Leu3161=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +1 more	GLikely benign

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