"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44255	NM_001927.4(DES):c.18G>A (p.Ser6=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 177803	NM_001927.4(DES):c.75= (p.Pro25=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 36002	NM_001927.4(DES):c.75A>G (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +7 more	GBenign
Select item 179455	NM_001927.4(DES):c.79G>A (p.Gly27Ser)	DES (G27S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 177804	NM_001927.4(DES):c.93= (p.Ser31=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +7 more	GBenign
Select item 227284	NM_001927.4(DES):c.99C>T (p.Pro33=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 44247	NM_001927.4(DES):c.114G>T (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +2 more	GLikely benign
Select item 44246	NM_001927.4(DES):c.114G>A (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +6 more	GBenign/Likely benign
Select item 44250	NM_001927.4(DES):c.127A>G (p.Lys43Glu)	DES (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2941160	NM_001927.4(DES):c.163C>T (p.Gln55Ter)	DES (Q55*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic/Likely pathogenic
Select item 201713	NM_001927.4(DES):c.166G>C (p.Val56Leu)	DES (V56L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 44254	NM_001927.4(DES):c.170C>T (p.Ser57Leu)	DES (S57L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44256	NM_001927.4(DES):c.193G>A (p.Gly65Ser)	DES (G65S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 179286	NM_001927.4(DES):c.243C>T (p.Ser81=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 163024	NM_001927.4(DES):c.250G>A (p.Gly84Ser)	DES (G84S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44257	NM_001927.4(DES):c.282C>G (p.Ala94=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 137077	NM_001927.4(DES):c.324G>A (p.Glu108=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +3 more	GBenign/Likely benign
Select item 228547	NM_001927.4(DES):c.347A>T (p.Asn116Ile)	DES (N116I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 66411	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES (N116S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic/Likely pathogenic
Select item 228548	NM_001927.4(DES):c.369del (p.Ile123fs)	DES (I123fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44258	NM_001927.4(DES):c.372G>A (p.Glu124=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign/Likely benign
Select item 228549	NM_001927.4(DES):c.376G>T (p.Val126Leu)	DES (V126L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44259	NM_001927.4(DES):c.380G>C (p.Arg127Pro)	DES (R127P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 227281	NM_001927.4(DES):c.404C>T (p.Ala135Val)	DES (A135V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 44262	NM_001927.4(DES):c.408C>T (p.Leu136=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign/Likely benign
Select item 44263	NM_001927.4(DES):c.578+11G>A	DES	Single nucleotide variant (intron variant)	Myofibrillar Myopathy, Dominant +5 more	GBenign
Select item 44264	NM_001927.4(DES):c.582G>A (p.Leu194=)	DES	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178660	NM_001927.4(DES):c.600del (p.Lys201fs)	DES (K201fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 227282	NM_001927.4(DES):c.639+13_639+15del	DES	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 44266	NM_001927.4(DES):c.642C>T (p.Asp214=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +5 more	GConflicting classifications of pathogenicity
Select item 228550	NM_001927.4(DES):c.656C>T (p.Thr219Ile)	DES (T219I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178016	NM_001927.4(DES):c.665G>A (p.Arg222His)	DES (R222H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36001	NM_001927.4(DES):c.669T>C (p.Ile223=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +7 more	GBenign/Likely benign
Select item 44267	NM_001927.4(DES):c.709G>A (p.Ala237Thr)	DES (A237T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +5 more	GUncertain significance
Select item 163027	NM_001927.4(DES):c.735+1G>C	DES	Single nucleotide variant (splice donor variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic/Likely pathogenic
Select item 44268	NM_001927.4(DES):c.735+1G>A	DES	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66419	NM_001927.4(DES):c.735+3A>G	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic
Select item 44269	NM_001927.4(DES):c.735+20C>T	DES	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 418721	NM_001927.4(DES):c.736-8C>A	DES	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 44270	NM_001927.4(DES):c.785A>T (p.Glu262Val)	DES (E262V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GConflicting classifications of pathogenicity
Select item 44271	NM_001927.4(DES):c.792C>T (p.Asp264=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +7 more	GBenign/Likely benign
Select item 44272	NM_001927.4(DES):c.828C>T (p.Asp276=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign
Select item 228551	NM_001927.4(DES):c.853G>A (p.Ala285Thr)	DES (A285T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 227283	NM_001927.4(DES):c.894G>A (p.Ser298=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Myofibrillar Myopathy, Dominant +9 more	GBenign/Likely benign
Select item 44274	NM_001927.4(DES):c.934G>A (p.Asp312Asn)	DES (D312N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GConflicting classifications of pathogenicity
Select item 44275	NM_001927.4(DES):c.935A>C (p.Asp312Ala)	DES (D312A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 228553	NM_001927.4(DES):c.937G>A (p.Ala313Thr)	DES (A313T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 228554	NM_001927.4(DES):c.974G>A (p.Arg325Gln)	DES (R325Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 44276	NM_001927.4(DES):c.980A>C (p.Gln327Pro)	DES (Q327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520492	NM_001927.4(DES):c.985C>T (p.Gln329Ter)	DES (Q329*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 44242	NM_001927.4(DES):c.1014G>C (p.Leu338=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 44243	NM_001927.4(DES):c.1026C>T (p.Asn342=)	DES	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 617903	NM_001927.4(DES):c.1063C>T (p.Arg355Ter)	DES (R355*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 44245	NM_001927.4(DES):c.1104G>A (p.Ala368=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 163028	NM_001927.4(DES):c.1189G>A (p.Ala397Thr)	DES (A397T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 44248	NM_001927.4(DES):c.1226T>C (p.Leu409Pro)	DES (L409P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44249	NM_001927.4(DES):c.1260C>T (p.Ile420=)	DES	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 177872	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES (R429*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 226559	NM_001927.4(DES):c.1353C>T (p.Ile451=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Neuromuscular disease +4 more	GPathogenic/Likely pathogenic
Select item 44251	NM_001927.4(DES):c.1366G>A (p.Gly456Arg)	DES (G456R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 228546	NM_001927.4(DES):c.1372-3dup	DES	Duplication	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 163029	NM_001927.4(DES):c.1374C>T (p.Val458=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +2 more	GLikely benign
Select item 44252	NM_001927.4(DES):c.1375G>A (p.Val459Ile)	DES (V459I)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +8 more	GBenign/Likely benign
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 44253	NM_001927.4(DES):c.1404A>G (p.Glu468=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity

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Items: 75