"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201754	NM_004006.3(DMD):c.23_35del	DMD (D1223fs +4 more)	Deletion (3 prime UTR variant +1 more)	DMD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 94446	NM_004006.3(DMD):c.10789C>T (p.Leu3597=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 580971	NM_004006.3(DMD):c.9649T>C (p.Tyr3217His)	DMD (Y3217H +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1206167	NM_004006.3(DMD):c.9523G>A (p.Val3175Met)	DMD (V107M +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 239614	NM_004006.3(DMD):c.9486G>A (p.Glu3162=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy +4 more	GBenign/Likely benign
Select item 810544	NM_004006.3(DMD):c.9225-5795G>A	DMD (G7S)	Single nucleotide variant (missense variant +1 more)	DMD-related condition +1 more	GBenign/Likely benign
Select item 286182	NM_004006.3(DMD):c.9093C>T (p.Val3031=)	DMD	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94809	NM_004006.3(DMD):c.8571T>C (p.Thr2857=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 286985	NM_004006.3(DMD):c.8027+7A>T	DMD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 161219	NM_004006.3(DMD):c.7571G>A (p.Arg2524His)	DMD (R2516H +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 281961	NM_004006.3(DMD):c.7310-7A>G	DMD	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94757	NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	DMD (A2395T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 94756	NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)	DMD (S2261Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 197522	NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)	DMD (R2191W +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 409943	NM_004006.3(DMD):c.6068T>G (p.Leu2023Arg)	DMD (L2023R +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 94656	NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)	DMD (R1728C +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 166757	NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)	DMD (W1670C +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 648287	NM_004006.3(DMD):c.4877T>A (p.Val1626Glu)	DMD (V282E +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +2 more	GBenign/Likely benign
Select item 94618	NM_004006.3(DMD):c.4275A>G (p.Glu1425=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
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 94608	NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)	DMD (R1324C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 196127	NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)	DMD (L1272F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 285018	NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)	DMD (W1265S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 94600	NM_004006.3(DMD):c.3603+8A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GBenign/Likely benign
Select item 595085	NM_004006.3(DMD):c.3432+10A>G	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195752	NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)	DMD (E991Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 94516	NM_004006.3(DMD):c.2490C>T (p.Asn830=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 94513	NM_004006.3(DMD):c.2457A>C (p.Leu819=)	DMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 94510	NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)	DMD (N797K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 94509	NM_004006.3(DMD):c.2386G>A (p.Val796Ile)	DMD (V673I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1297683	NM_004006.3(DMD):c.2163G>A (p.Arg721=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy	GLikely benign
Select item 94494	NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)	DMD (T715S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 94487	NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)	DMD (S666L +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 697997	NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)	DMD (R645W +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GLikely benign
Select item 281435	NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	DMD (D645G +3 more)	Single nucleotide variant (missense variant)	DMD-related condition +4 more	GConflicting classifications of pathogenicity
Select item 94471	NM_004006.3(DMD):c.1513G>C (p.Val505Leu)	DMD (V501L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 94470	NM_004006.3(DMD):c.1483-7C>G	DMD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 166863	NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)	DMD (T418S +3 more)	Single nucleotide variant (missense variant)	not provided +3 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 289521	NM_004006.3(DMD):c.923C>T (p.Thr308Ile)	DMD (T308I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 285293	NM_004006.3(DMD):c.434G>A (p.Arg145Gln)	DMD (R145Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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: 41