ClinVar for MedGen (Select 330449) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763916	NM_001927.4(DES):c.578+10C>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3763686	NM_001927.4(DES):c.546C>G (p.Asn182Lys)	DES (N182K)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3763551	NM_001927.4(DES):c.548T>C (p.Leu183Pro)	DES (L183P)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3763462	NM_001927.4(DES):c.1002G>T (p.Glu334Asp)	DES (E244D +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3763405	NM_001927.4(DES):c.1288+2T>C	DES	Single nucleotide variant (splice donor variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3763388	NM_001927.4(DES):c.1245-6T>C	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3763133	NM_001927.4(DES):c.135C>G (p.Ser45=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3762805	NM_001927.4(DES):c.116G>A (p.Gly39Asp)	DES (G39D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3762654	NM_001927.4(DES):c.639+10C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3762421	NM_001927.4(DES):c.1024-6C>G	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3762386	NM_001927.4(DES):c.1101T>A (p.Ile367=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3762078	NM_001927.4(DES):c.681C>G (p.Arg227=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3762048	NM_001927.4(DES):c.1386C>T (p.Ala462=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3761081	NM_001927.4(DES):c.539G>T (p.Arg180Leu)	DES (R180L)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3760939	NM_001927.4(DES):c.481G>A (p.Glu161Lys)	DES (E161K)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3760790	NM_001927.4(DES):c.566_567insCT (p.Leu190fs)	DES (L190fs)	Insertion (frameshift variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 3760743	NM_001927.4(DES):c.1077G>A (p.Glu359=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3760459	NM_001927.4(DES):c.522G>A (p.Ala174=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3760331	NM_001927.4(DES):c.897+11del	DES	Deletion (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3759602	NM_001927.4(DES):c.762T>A (p.Leu254=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3759557	NM_001927.4(DES):c.720G>A (p.Lys240=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3759169	NM_001927.4(DES):c.503T>G (p.Val168Gly)	DES (V168G)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3759168	NM_001927.4(DES):c.793A>C (p.Met265Leu)	DES (M175L +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3759167	NM_001927.4(DES):c.1175T>G (p.Leu392Arg)	DES (L248R +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3759166	NM_001927.4(DES):c.953A>G (p.Lys318Arg)	DES (K228R +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3758728	NM_001927.4(DES):c.2T>G (p.Met1Arg)	DES (M1R)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3758290	NM_001927.4(DES):c.1245G>A (p.Arg415=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3758249	NM_001927.4(DES):c.3G>A (p.Met1Ile)	DES (M1I)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3758071	NM_001927.4(DES):c.850A>G (p.Ile284Val)	DES (I194V +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3758032	NM_001927.4(DES):c.897G>A (p.Lys299=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3757518	NM_001927.4(DES):c.1084G>A (p.Gly362Ser)	DES (G272S +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3757473	NM_001927.4(DES):c.1365del (p.Asp455fs)	DES (D311fs +5 more)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3757420	NM_001927.4(DES):c.209G>A (p.Arg70Gln)	DES (R70Q)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3757170	NM_001927.4(DES):c.1245-17del	DES	Deletion (intron variant)	Desmin-related myofibrillar myopathy	GBenign
Select item 3757042	NM_001927.4(DES):c.496G>A (p.Val166Met)	DES (V166M)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3756775	NM_001927.4(DES):c.1062C>A (p.Asp354Glu)	DES (D264E +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3756704	NM_001927.4(DES):c.749T>C (p.Leu250Ser)	DES (L249S +1 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3756420	NM_001927.4(DES):c.214A>T (p.Ser72Cys)	DES (S72C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3755982	NM_001927.4(DES):c.1372-1G>A	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3755946	NM_001927.4(DES):c.486G>A (p.Leu162=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3755890	NM_001927.4(DES):c.114G>C (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3755811	NM_001927.4(DES):c.648T>C (p.Asp216=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3755773	NM_001927.4(DES):c.1042C>T (p.Gln348Ter)	DES (Q258* +2 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 3755763	NM_001927.4(DES):c.198G>C (p.Leu66=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3755597	NM_001927.4(DES):c.1244+13G>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3755415	NM_001927.4(DES):c.821T>A (p.Leu274His)	DES (L184H +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3755394	NM_001927.4(DES):c.334C>G (p.Leu112Val)	DES (L112V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3755138	NM_001927.4(DES):c.1200G>A (p.Val400=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3753559	NM_001927.4(DES):c.65C>T (p.Pro22Leu)	DES (P22L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3753457	NM_001927.4(DES):c.1236G>A (p.Glu412=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3753446	NM_001927.4(DES):c.1024-13C>G	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3753084	NM_001927.4(DES):c.531C>A (p.Asp177Glu)	DES (D177E)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3752954	NM_001927.4(DES):c.932A>G (p.Asn311Ser)	DES (N221S +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3752953	NM_001927.4(DES):c.1127A>G (p.His376Arg)	DES (H286R +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3752912	NM_001927.4(DES):c.1289-10C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3752418	NM_001927.4(DES):c.1289-3C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751929	NM_001927.4(DES):c.530A>C (p.Asp177Ala)	DES (D177A)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751759	NM_001927.4(DES):c.1289-15T>C	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3751714	NM_001927.4(DES):c.307A>G (p.Thr103Ala)	DES (T103A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751601	NM_001927.4(DES):c.116G>C (p.Gly39Ala)	DES (G39A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751442	NM_001927.4(DES):c.1288G>A (p.Glu430Lys)	DES (E286K +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751397	NM_001927.4(DES):c.1356G>A (p.Glu452=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3751336	NM_001927.4(DES):c.382T>C (p.Phe128Leu)	DES (F128L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3751096	NM_001927.4(DES):c.924C>A (p.Asn308Lys)	DES (N218K +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3750641	NM_001927.4(DES):c.897+13G>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3750498	NM_001927.4(DES):c.1024-10T>C	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3750314	NM_001927.4(DES):c.236C>A (p.Thr79Lys)	DES (T79K)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3750214	NM_001927.4(DES):c.1245-14C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3749994	NM_001927.4(DES):c.788T>C (p.Met263Thr)	DES (M173T +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3749857	NM_001927.4(DES):c.1074T>C (p.Ser358=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3749547	NM_001927.4(DES):c.665G>T (p.Arg222Leu)	DES (R221L +1 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3749360	NM_001927.4(DES):c.1353C>A (p.Ile451=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3749178	NM_001927.4(DES):c.1371+3A>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3748600	NM_001927.4(DES):c.640-9C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 3748366	NM_001927.4(DES):c.52T>A (p.Phe18Ile)	DES (F18I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3747941	NM_001927.4(DES):c.185G>C (p.Gly62Ala)	DES (G62A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3585680	NM_001927.4(DES):c.322del (p.Glu108fs)	DES (E108fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1I +2 more	GLikely pathogenic
Select item 3501212	NM_001927.4(DES):c.817G>C (p.Ala273Pro)	DES (A183P +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 3501189	NM_001927.4(DES):c.281C>T (p.Ala94Val)	DES (A94V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 3393118	NM_001927.4(DES):c.523C>T (p.Arg175Cys)	DES (R175C)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3382173	NM_001927.4(DES):c.944dup (p.Gln316fs)	DES (Q226fs +2 more)	Duplication (frameshift variant +1 more)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GLikely pathogenic
Select item 3362673	NM_001927.4(DES):c.152C>A (p.Ser51Tyr)	DES (S51Y)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3340466	NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)	DES	Deletion (inframe_indel)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3271654	NM_001927.4(DES):c.204G>A (p.Ser68=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3247400	NC_000002.11:g.(?_220286089)_(220292091_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247399	NC_000002.11:g.(?_220283185)_(220314013_?)dup	DES, SPEG	Duplication	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247398	NC_000002.11:g.(?_220283513)_(220299541_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3233254	NM_001927.4(DES):c.949G>C (p.Ala317Pro)	DES (A227P +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3075876	NM_001927.4(DES):c.1396C>T (p.Gln466Ter)	DES (Q322* +5 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3069155	NM_001927.4(DES):c.367A>C (p.Ile123Leu)	DES (I123L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3065242	NM_001927.4(DES):c.1213T>C (p.Tyr405His)	DES (Y261H +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3024113	NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)	DES	Microsatellite (inframe_insertion +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2954046	NM_001927.4(DES):c.1146C>T (p.Ala382=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2953801	NM_001927.4(DES):c.1045A>G (p.Met349Val)	DES (M348V +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2953673	NM_001927.4(DES):c.854C>G (p.Ala285Gly)	DES (A284G +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2952689	NM_001927.4(DES):c.435C>T (p.Gly145=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2952593	NM_001927.4(DES):c.1151A>C (p.His384Pro)	DES (H361P +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2952504	NM_001927.4(DES):c.897+20G>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2952114	NM_001927.4(DES):c.188C>T (p.Ala63Val)	DES (A63V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2951441	NM_001927.4(DES):c.138C>A (p.Ser46=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign

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