"Genome-Nilou Lab"[submitter] AND "DMD"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526049	NM_004006.3(DMD):c.10367del (p.Asn3456fs)	DMD (N3333fs +10 more)	Deletion (frameshift variant +1 more)	Duchenne muscular dystrophy	GPathogenic
Select item 94854	NM_004006.3(DMD):c.9649+15T>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GBenign
Select item 166667	NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)	DMD (R2937Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 11269	NM_004006.3(DMD):c.8762A>G (p.His2921Arg)	DMD (H2921R +7 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 3B +4 more	GBenign/Likely benign
Select item 197992	NM_004006.3(DMD):c.8226A>G (p.Gln2742=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 94783	NM_004006.3(DMD):c.8027+11C>T	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 94776	NM_004006.3(DMD):c.7728T>C (p.Asn2576=)	DMD	Single nucleotide variant (synonymous variant)	Becker muscular dystrophy +5 more	GBenign
Select item 166706	NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)	DMD (K2366Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 439609	NM_004006.3(DMD):c.6614+26G>T	DMD	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 518680	NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp)	DMD (R2107W +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
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 94657	NM_004006.3(DMD):c.5234G>A (p.Arg1745His)	DMD (R1745H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign
Select item 94655	NM_004006.3(DMD):c.5181A>T (p.Ile1727=)	DMD	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 94617	NM_004006.3(DMD):c.4234-13A>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +3 more	GBenign
Select item 963833	NM_004006.3(DMD):c.3630del (p.Glu1211fs)	DMD (E1211fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 166842	NM_004006.3(DMD):c.2645A>G (p.Asp882Gly)	DMD (D882G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 382670	NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)	DMD (C873R +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +4 more	GConflicting classifications of pathogenicity
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 94495	NM_004006.3(DMD):c.2168+13T>C	DMD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 671083	NM_004006.3(DMD):c.1993-37T>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +2 more	GBenign
Select item 155781	NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)	DMD (F571L +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 282487	NM_004006.3(DMD):c.1095A>C (p.Gln365His)	DMD (Q365H +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 424573	NM_004006.3(DMD):c.367G>A (p.Val123Ile)	DMD (V123I +2 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +2 more	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: 26