C0013264[trait identifier] AND "3billion"[submitter] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94428	NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	DMD (R3391* +8 more)	Single nucleotide variant (nonsense)	Abnormality of the musculature +4 more	GPathogenic
Select item 1526091	NM_004006.3(DMD):c.10087_10098del (p.Thr3363_Gly3366del)	DMD	Deletion (inframe_deletion)	Duchenne muscular dystrophy	GUncertain significance
Select item 1333487	NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter)	DMD (E1818* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1073485	NM_004006.3(DMD):c.9457del (p.Cys3153fs)	DMD (C1812fs +8 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1526093	NM_004006.3(DMD):c.9238dup (p.Thr3080fs)	DMD (T12fs +8 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1526180	NM_004006.3(DMD):c.9225-15del	DMD	Deletion (intron variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 1213207	NM_004006.3(DMD):c.9224+5G>A	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 569802	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD (R3034* +7 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +3 more	GPathogenic
Select item 1687589	NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter)	DMD (E1457* +7 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1333499	NM_004006.3(DMD):c.8086del (p.Leu2696fs)	DMD (L1352fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2193175	NM_004006.3(DMD):c.7310-19A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 1333194	NM_004006.3(DMD):c.7197dup (p.Lys2400fs)	DMD (K1056fs +5 more)	Duplication (frameshift variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 197434	NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)	DMD (W1956* +5 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy +2 more	GPathogenic
Select item 197412	NM_004006.3(DMD):c.5697del (p.Lys1899fs)	DMD (K1891fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy +2 more	GPathogenic
Select item 1526030	NM_004006.3(DMD):c.5656dup (p.Ala1886fs)	DMD (A1763fs +5 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1526196	NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter)	DMD (S1665* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 803869	NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)	DMD (R1558fs +5 more)	Microsatellite (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 94630	NM_004006.3(DMD):c.4518+5G>A	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 963833	NM_004006.3(DMD):c.3630del (p.Glu1211fs)	DMD (E1211fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2572569	NM_004006.3(DMD):c.2857del (p.Thr953fs)	DMD (T830fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2444075	NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)	DMD (Q544* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 263735	NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del)	DMD (L628del +3 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1475224	NM_004006.3(DMD):c.1705-18T>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 1806405	NM_004006.3(DMD):c.1399dup (p.Thr467fs)	DMD (T344fs +3 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 642449	NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	DMD (D447Y +3 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1322216	NM_004006.3(DMD):c.1032T>A (p.Tyr344Ter)	DMD (Y221* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	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 1526106	NM_004006.3(DMD):c.506dup (p.Leu169fs)	DMD (L161fs +3 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 217195	NM_004006.3(DMD):c.355C>T (p.Gln119Ter)	DMD (Q119* +2 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 2444047	NM_004006.3(DMD):c.130dup (p.Leu44fs)	DMD (L36fs +2 more)	Duplication (frameshift variant +1 more)	Duchenne muscular dystrophy	GPathogenic
Select item 2444320	NM_004006.3(DMD):c.70T>C (p.Trp24Arg)	DMD (W16R +2 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy	GUncertain significance

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: 31