"Baylor Genetics"[submitter] AND "DMD"[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674873	NM_004006.3(DMD):c.11046+2T>C	DMD	Single nucleotide variant (splice donor variant +1 more)	Becker muscular dystrophy	GLikely pathogenic
Select item 450932	NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile)	DMD (T3609I +11 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +1 more	GUncertain significance
Select item 813444	NM_004006.3(DMD):c.10395-1G>A	DMD	Single nucleotide variant (splice acceptor variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 813445	NM_004020.4(DMD):c.2843+6256_2843+6260dup	DMD	Duplication (intron variant)	Duchenne muscular dystrophy	GLikely pathogenic
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 854585	NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)	DMD (W2072* +8 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Qualitative or quantitative defects of dystrophin +11 more	GConflicting classifications of pathogenicity
Select item 2674871	NM_004006.3(DMD):c.9685del (p.Cys3229fs)	DMD (C161fs +8 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 455945	NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)	DMD (R3113Q +8 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 2674869	NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)	DMD (K1275* +6 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 1966748	NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)	DMD (R861fs +5 more)	Microsatellite (frameshift variant +1 more)	Duchenne muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2169639	NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)	DMD (G2093V +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 813446	NM_004006.3(DMD):c.5922+1G>T	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +1 more	GLikely pathogenic
Select item 285195	NM_004006.3(DMD):c.5739+1G>T	DMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 593021	NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)	DMD (R1787fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 374319	NM_004006.3(DMD):c.5652del (p.Arg1884fs)	DMD (R1884fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 424045	NM_004006.3(DMD):c.5448+1G>A	DMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 526093	NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)	DMD (Q1756* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 217201	NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)	DMD (Q1711* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 94624	NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)	DMD (Q1469* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94616	NM_004006.3(DMD):c.4233+2C>T	DMD	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 1030735	NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys)	DMD (R1342C +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +2 more	GUncertain significance
Select item 2674868	NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)	DMD (K1065* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy	GPathogenic
Select item 953819	NM_004006.3(DMD):c.2949+2T>C	DMD	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dystrophin +3 more	GPathogenic/Likely pathogenic
Select item 439617	NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)	DMD (Q821* +3 more)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 813447	NM_004006.3(DMD):c.2381-2A>C	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2674872	NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)	DMD (E666fs +3 more)	Deletion (frameshift variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 699440	NM_004006.3(DMD):c.1998A>G (p.Ser666=)	DMD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 3B +1 more	GConflicting classifications of pathogenicity
Select item 162497	NM_004006.3(DMD):c.1812+1G>A	DMD	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dystrophin +4 more	GPathogenic/Likely pathogenic
Select item 161220	NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	DMD (L567P +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2674865	NM_004006.3(DMD):c.1603-1G>T	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GPathogenic
Select item 285784	NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)	DMD (Q532* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1032175	NM_004006.3(DMD):c.1153T>C (p.Tyr385His)	DMD (Y385H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2674867	NM_004006.3(DMD):c.960+1G>A	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 2674866	NM_004006.3(DMD):c.832-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Becker muscular dystrophy	GLikely pathogenic
Select item 576305	NM_004006.3(DMD):c.357+5G>A	DMD	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 281179	NM_004006.3(DMD):c.31+36947G>A	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 29962	NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	DMD (W3*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 625789	GRCh37/hg19 Xp21.1(chrX:32587530-32719171)	DMD	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 625788	GRCh37/hg19 Xp21.1(chrX:32466518-32928163)	DMD	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 625644	GRCh37/hg19 Xp21.1(chrX:32235149-32459424)	DMD	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 625643	GRCh37/hg19 Xp21.1(chrX:31853996-31855256)	DMD	Copy number loss	Becker muscular dystrophy	GPathogenic
Select item 374372	Single allele	DMD	Deletion	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 374332	Single allele	DMD	Deletion	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 2674870	NM_004006.3:c.7099-17240_7125del	DMD	Deletion	Becker muscular dystrophy	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46