"Revvity Omics, Revvity"[submitter] AND "DES"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 836201	NM_001927.4(DES):c.7C>T (p.Gln3Ter)	DES (Q3*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 541304	NM_001927.4(DES):c.38C>A (p.Ser13Tyr)	DES (S13Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1405121	NM_001927.4(DES):c.43C>A (p.Arg15Ser)	DES (R15S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497737	NM_001927.4(DES):c.55G>C (p.Gly19Arg)	DES (G19R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 2440744	NM_001927.4(DES):c.61G>A (p.Ala21Thr)	DES (A21T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 2184154	NM_001927.4(DES):c.100G>A (p.Val34Met)	DES (V34M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 1393027	NM_001927.4(DES):c.105C>G (p.Phe35Leu)	DES (F35L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 264441	NM_001927.4(DES):c.109C>T (p.Arg37Trp)	DES (R37W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 201713	NM_001927.4(DES):c.166G>C (p.Val56Leu)	DES (V56L)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 500483	NM_001927.4(DES):c.167T>A (p.Val56Glu)	DES (V56E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 44254	NM_001927.4(DES):c.170C>T (p.Ser57Leu)	DES (S57L)	Single nucleotide variant (missense variant)	not provided +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 1785367	NM_001927.4(DES):c.206T>C (p.Leu69Pro)	DES (L69P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 193219	NM_001927.4(DES):c.216C>A (p.Ser72Arg)	DES (S72R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 500027	NM_001927.4(DES):c.218G>A (p.Arg73Gln)	DES (R73Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163024	NM_001927.4(DES):c.250G>A (p.Gly84Ser)	DES (G84S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 201718	NM_001927.4(DES):c.295C>G (p.Gln99Glu)	DES (Q99E)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 201719	NM_001927.4(DES):c.299A>C (p.Glu100Ala)	DES (E100A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440740	NM_001927.4(DES):c.380G>A (p.Arg127His)	DES (R127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 411147	NM_001927.4(DES):c.391C>A (p.Gln131Lys)	DES (Q131K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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)	Dilated cardiomyopathy 1I +20 more	GUncertain significance
Select item 2440742	NM_001927.4(DES):c.537_542dup (p.Arg180_Asp181insGluArg)	DES	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2028787	NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)	DES	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 2099541	NM_001927.4(DES):c.554A>T (p.Asp185Val)	DES (D185V)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 577606	NM_001927.4(DES):c.565C>T (p.Arg189Trp)	DES (R189W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2439698	NM_001927.4(DES):c.604del (p.Glu202fs)	DES (E202fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 657130	NM_001927.4(DES):c.610G>T (p.Ala204Ser)	DES (A204S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 546199	NM_001927.4(DES):c.625G>C (p.Ala209Pro)	DES (A209P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 222542	NM_001927.4(DES):c.643G>A (p.Val215Met)	DES (V215M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +7 more	GConflicting classifications of pathogenicity
Select item 228550	NM_001927.4(DES):c.656C>T (p.Thr219Ile)	DES (T219I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 541301	NM_001927.4(DES):c.694C>T (p.Leu232Phe)	DES (L232F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 1414330	NM_001927.4(DES):c.709G>T (p.Ala237Ser)	DES (A236S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44267	NM_001927.4(DES):c.709G>A (p.Ala237Thr)	DES (A237T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 201702	NM_001927.4(DES):c.727C>T (p.His243Tyr)	DES (H243Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GUncertain significance
Select item 2439694	NM_001927.4(DES):c.735+2T>C	DES	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 44270	NM_001927.4(DES):c.785A>T (p.Glu262Val)	DES (E262V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +5 more	GConflicting classifications of pathogenicity
Select item 66423	NM_001927.4(DES):c.893C>T (p.Ser298Leu)	DES (S298L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44274	NM_001927.4(DES):c.934G>A (p.Asp312Asn)	DES (D312N)	Single nucleotide variant (missense variant)	not provided +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)	not specified +4 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 specified +4 more	GUncertain significance
Select item 541302	NM_001927.4(DES):c.943C>T (p.Arg315Cys)	DES (R315C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 289659	NM_001927.4(DES):c.944G>A (p.Arg315His)	DES (R315H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440741	NM_001927.4(DES):c.956A>C (p.Gln319Pro)	DES (Q229P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155459	NM_001927.4(DES):c.962T>A (p.Met321Lys)	DES (M321K +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 201706	NM_001927.4(DES):c.1027G>A (p.Asp343Asn)	DES (D343N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 289633	NM_001927.4(DES):c.1030T>C (p.Ser344Pro)	DES (S344P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 16825	NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES (L345P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 596421	NM_001927.4(DES):c.1049G>A (p.Arg350Gln)	DES (R350Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 617903	NM_001927.4(DES):c.1063C>T (p.Arg355Ter)	DES (R355*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1I +3 more	GConflicting classifications of pathogenicity
Select item 66389	NM_001927.4(DES):c.1064G>C (p.Arg355Pro)	DES (R355P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1517261	NM_001927.4(DES):c.1078G>T (p.Ala360Ser)	DES (A359S +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +3 more	GUncertain significance
Select item 1045499	NM_001927.4(DES):c.1090C>A (p.Gln364Lys)	DES (Q274K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 846623	NM_001927.4(DES):c.1103C>T (p.Ala368Val)	DES (A368V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 201707	NM_001927.4(DES):c.1123C>T (p.Arg375Trp)	DES (R375W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +5 more	GUncertain significance
Select item 1010171	NM_001927.4(DES):c.1172T>C (p.Leu391Pro)	DES (L247P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481128	NM_001927.4(DES):c.1189G>T (p.Ala397Ser)	DES (A307S +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 972950	NM_001927.4(DES):c.1217G>T (p.Arg406Leu)	DES (R316L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201709	NM_001927.4(DES):c.1243C>T (p.Arg415Trp)	DES (R415W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2688924	NM_001927.4(DES):c.1245-3T>C	DES	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 289962	NM_001927.4(DES):c.1286G>A (p.Arg429Gln)	DES (R429Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2440746	NM_001927.4(DES):c.1342A>G (p.Ile448Val)	DES (I304V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1770670	NM_001927.4(DES):c.1354G>A (p.Glu452Lys)	DES (E308K +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 66401	NM_001927.4(DES):c.1358C>T (p.Thr453Ile)	DES (T453I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GPathogenic/Likely pathogenic
Select item 1315172	NM_001927.4(DES):c.1364A>T (p.Asp455Val)	DES (D311V +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance

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Items: 70