ClinVar for MedGen (Select 777148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500346	NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del	DMD	Deletion	Dilated cardiomyopathy 3B	GPathogenic
Select item 2500304	NM_001105206.3(LAMA4):c.945C>G (p.Asn315Lys)	LAMA4 (N308K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 1966748	NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)	DMD (R861fs +5 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 3B +2 more	GPathogenic/Likely pathogenic
Select item 1806402	NM_004006.3(DMD):c.3786+5G>C	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 1804925	NM_004006.3(DMD):c.4180G>T (p.Ala1394Ser)	DMD (A1271S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 1699467	NM_004006.3(DMD):c.5582T>C (p.Leu1861Pro)	DMD (L1738P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 1655969	NM_004006.3(DMD):c.6117+15C>T	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy +2 more	GLikely benign
Select item 1643519	NM_004006.3(DMD):c.2381-7T>G	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy +2 more	GLikely benign
Select item 1620472	NM_004006.3(DMD):c.11031A>G (p.Gly3677=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Duchenne muscular dystrophy +2 more	GLikely benign
Select item 1519466	NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro)	DMD (S1069P +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1489579	NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)	DMD (R37M +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1487806	NM_004006.3(DMD):c.5146G>A (p.Val1716Met)	DMD (V375M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1482133	NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)	DMD (K516Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1467637	NM_004006.3(DMD):c.2017C>G (p.Gln673Glu)	DMD (Q665E +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1447296	NM_004006.3(DMD):c.4477G>A (p.Val1493Met)	DMD (V1370M +5 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +2 more	GUncertain significance
Select item 1427027	NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu)	DMD (Q151E +5 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +3 more	GUncertain significance
Select item 1403769	NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro)	DMD (L1350P +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1387547	NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr)	DMD (A1084T +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1384267	NM_004006.3(DMD):c.4987G>A (p.Val1663Ile)	DMD (V1659I +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1382986	NM_004006.3(DMD):c.2273A>G (p.Asp758Gly)	DMD (D750G +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1376948	NM_004006.3(DMD):c.960G>A (p.Gln320=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1373780	NM_004006.3(DMD):c.5922+3G>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1369894	NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe)	DMD (L1551F +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1346075	NM_004006.3(DMD):c.803T>C (p.Leu268Ser)	DMD (L264S +3 more)	Single nucleotide variant (missense variant)	DMD-related disorder +3 more	GUncertain significance
Select item 1330656	NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp)	DMD (E124D +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1328573	NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)	DMD (D486G +3 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +3 more	GUncertain significance
Select item 1324238	NM_004006.3(DMD):c.6763-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy +3 more	GLikely pathogenic
Select item 1322340	NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)	DMD (E336* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1285470	NM_004006.3(DMD):c.4684del (p.Arg1562fs)	DMD (R1439fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 3B +1 more	GPathogenic/Likely pathogenic
Select item 1255507	NM_004006.3(DMD):c.6290+27T>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +2 more	GBenign
Select item 1199259	NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala)	DMD (T1467A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 1199258	NM_004006.3(DMD):c.2335G>C (p.Asp779His)	DMD (D656H +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 1199257	NM_004006.3(DMD):c.888C>A (p.Phe296Leu)	DMD (F173L +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 1199256	NM_004006.3(DMD):c.610A>G (p.Arg204Gly)	DMD (R196G +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 1177491	NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)	DMD (G1174C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1176295	NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)	DMD (R1832C +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1168674	NM_004006.3(DMD):c.1742C>T (p.Ala581Val)	DMD (A458V +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 1072276	NM_004006.3(DMD):c.1603-2A>T	DMD	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 3B +1 more	GPathogenic
Select item 1052758	NM_004006.3(DMD):c.2233C>G (p.Pro745Ala)	DMD (P622A +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1043233	NM_004006.3(DMD):c.3029C>T (p.Ala1010Val)	DMD (A1006V +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1030735	NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)	DMD (R1342C +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 1030734	NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu)	DMD (S3416L +10 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 1027173	NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)	DMD (R659S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 1017962	NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)	DMD (W340L +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 972238	NM_004006.3(DMD):c.2079G>T (p.Gln693His)	DMD (Q570H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 970497	NM_004006.3(DMD):c.1788G>A (p.Met596Ile)	DMD (M473I +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 966017	NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg)	DMD (G1211R +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 965317	NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)	DMD (R1227W +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 964654	NM_004006.3(DMD):c.1648C>T (p.Arg550Cys)	DMD (R427C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 962729	NM_004006.3(DMD):c.5156G>A (p.Arg1719His)	DMD (R1596H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 960661	NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser)	DMD (T2809S +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 959085	NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro)	DMD (Q923P +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	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 948739	NM_004006.3(DMD):c.7514A>T (p.Asp2505Val)	DMD (D2501V +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GUncertain significance
Select item 947856	NM_004006.3(DMD):c.2312C>T (p.Ala771Val)	DMD (A771V +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 943220	NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)	DMD (R1259I +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 937665	NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)	DMD (L1430R +7 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +2 more	GConflicting classifications of pathogenicity
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 935589	NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)	DMD (M1572I +5 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +2 more	GUncertain significance
Select item 931998	NM_004006.3(DMD):c.4345-3C>G	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931978	NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer)	DMD	Insertion (inframe_insertion)	Dilated cardiomyopathy 3B	GLikely pathogenic
Select item 931458	NM_004006.3(DMD):c.10210dup (p.Asp3404fs)	DMD (D2060fs +8 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 3B +1 more	GPathogenic
Select item 931167	NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)	DMD (N676D +8 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +2 more	GConflicting classifications of pathogenicity
Select item 931129	NM_004006.3(DMD):c.2451G>C (p.Gln817His)	DMD (Q809H +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 930752	NM_004006.3(DMD):c.649+26G>T	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 930423	NM_004006.3(DMD):c.4375del (p.Arg1459fs)	DMD (R115fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 3B	GPathogenic
Select item 915257	NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys)	DMD (E1251K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 915185	NM_004006.3(DMD):c.8181C>T (p.Asp2727=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +1 more	GConflicting classifications of pathogenicity
Select item 915146	NM_004006.3(DMD):c.10711C>T (p.Arg3571Cys)	DMD (R1111C +11 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 915145	NM_004006.3(DMD):c.*218G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 915104	NM_004006.3(DMD):c.*2103T>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 915103	NM_004006.3(DMD):c.*2268C>T	DMD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 915102	NM_004006.3(DMD):c.*2328G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 915101	NM_004006.3(DMD):c.*2563G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GLikely benign
Select item 915100	NM_004006.3(DMD):c.*2585T>G	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 914621	NM_004006.3(DMD):c.-22G>A	DMD	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 3B	GLikely benign
Select item 914029	NM_004006.3(DMD):c.4244C>G (p.Ser1415Cys)	DMD (S1411C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913988	NM_004006.3(DMD):c.6284G>T (p.Arg2095Leu)	DMD (R1972L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913987	NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)	DMD (E2085G +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 3B +3 more	GConflicting classifications of pathogenicity
Select item 913903	NM_004006.3(DMD):c.*489C>T	DMD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913902	NM_004006.3(DMD):c.*505A>G	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913901	NM_004006.3(DMD):c.*571A>G	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GLikely benign
Select item 913900	NM_004006.3(DMD):c.*809C>T	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GBenign
Select item 913899	NM_004006.3(DMD):c.*848C>T	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913898	NM_004006.3(DMD):c.*855G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GLikely benign
Select item 913726	NM_004006.3(DMD):c.1602+13T>A	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +1 more	GConflicting classifications of pathogenicity
Select item 913674	NM_004006.3(DMD):c.2894C>A (p.Pro965His)	DMD (P842H +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913633	NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)	DMD (L1525V +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 913593	NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser)	DMD (P1021S +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 913557	NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)	DMD (P2958L +7 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 913519	NM_004006.3(DMD):c.*1023G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913518	NM_004006.3(DMD):c.*1031G>A	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 913517	NM_004006.3(DMD):c.*1035A>G	DMD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 3B	GLikely benign
Select item 912623	NM_004006.3(DMD):c.1704+9T>C	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +1 more	GConflicting classifications of pathogenicity
Select item 912622	NM_004006.3(DMD):c.1896G>A (p.Lys632=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +1 more	GConflicting classifications of pathogenicity
Select item 912573	NM_004006.3(DMD):c.3527C>A (p.Ala1176Asp)	DMD (A1172D +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 912522	NM_004006.3(DMD):c.5481G>T (p.Leu1827Phe)	DMD (L1704F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B	GUncertain significance
Select item 912521	NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile)	DMD (T1852I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 912476	NM_004006.3(DMD):c.7236G>A (p.Ala2412=)	DMD	Single nucleotide variant (synonymous variant +1 more)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 912475	NM_004006.3(DMD):c.7366A>G (p.Ile2456Val)	DMD (I1115V +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 3B +1 more	GUncertain significance

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