ClinVar for PubMed (Select 23536893) - ClinVar

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

Links from PubMed

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2737176	NM_004006.3(DMD):c.1474C>T (p.Gln492Ter)	DMD (Q369* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 2737156	NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly)	DMD (D1692G +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2737134	NM_004006.3(DMD):c.10227dup (p.Val3410fs)	DMD (V342fs +8 more)	Duplication (frameshift variant +1 more)	Duchenne muscular dystrophy	GPathogenic
Select item 2425009	NC_000023.10:g.(?_31171146)_(31227760_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1457263	NM_004006.3(DMD):c.961-1G>C	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1348525	NM_004006.3(DMD):c.10224-1G>C	DMD	Single nucleotide variant (splice acceptor variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1322567	NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)	DMD (Q381* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1322482	NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)	DMD (E1161* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1322235	NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)	DMD (Q840* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1322228	NM_004006.3(DMD):c.2169-2A>T	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1073643	NM_004006.3(DMD):c.10224dup (p.Pro3409fs)	DMD (P2065fs +8 more)	Duplication (frameshift variant +1 more)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1070053	NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)	DMD (E1048* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1066543	NM_004006.3(DMD):c.961-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 964684	NM_004006.3(DMD):c.3603+2T>C	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 947912	NM_004006.3(DMD):c.9563+5G>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 857756	NM_004006.3(DMD):c.10227del (p.Val3410fs)	DMD (V2066fs +8 more)	Deletion (frameshift variant +1 more)	Duchenne muscular dystrophy	GPathogenic
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 848438	NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)	DMD (Q735* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 803938	NM_004006.3(DMD):c.961-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 803890	NM_004006.3(DMD):c.3603+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 803889	NM_004006.3(DMD):c.3603+2_3603+3insTA	DMD	Insertion (splice donor variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 656754	NM_004006.3(DMD):c.9563+2T>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 618597	NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)	DMD (W546* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 593327	NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	DMD (Q1791* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 585781	NM_004006.3(DMD):c.3603+1G>T	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 569802	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD (R3034* +7 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 523468	NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)	DMD (W1613* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +4 more	GPathogenic
Select item 497147	NM_004006.3(DMD):c.3603+2dup	DMD	Duplication (splice donor variant)	not provided +1 more	GPathogenic
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 3B +11 more	GConflicting classifications of pathogenicity
Select item 290909	NM_004006.3(DMD):c.358-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 288725	NM_004006.3(DMD):c.9563+1G>A	DMD	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 284288	NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)	DMD (E3367del +8 more)	Microsatellite (inframe_deletion)	Becker muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 217182	NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)	DMD (E739* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 166864	NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	DMD (R295* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 94839	NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)	DMD (R3113* +8 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94837	NM_004006.3(DMD):c.9225-647A>G	DMD	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 94772	NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)	DMD (R2553* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94697	NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)	DMD (R2095* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94684	NM_004006.3(DMD):c.583C>T (p.Arg195Ter)	DMD (R195* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy +3 more	GPathogenic
Select item 94669	NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	DMD (R1844* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94658	NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)	DMD (R1763* +5 more)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic
Select item 94489	NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)	DMD (Q678* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 94460	NM_004006.3(DMD):c.1332-9A>G	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 94430	NM_004006.3(DMD):c.10223+1G>A	DMD	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 94421	NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)	DMD (R3345* +8 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 11288	NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)	DMD (R2905* +7 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 11260	NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)	DMD (R2098* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 11242	NM_004006.3(DMD):c.724C>T (p.Gln242Ter)	DMD (Q242* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 11225	NM_004006.3(DMD):c.433C>T (p.Arg145Ter)	DMD (R145* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 11211	NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	DMD (R2982* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 50