"Eurofins Ntd Llc (ga)"[submitter] AND "DES"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290155	NM_001927.4(DES):c.-7C>G	DES	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 594969	NM_001927.4(DES):c.20C>T (p.Ser7Phe)	DES (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290562	NM_001927.4(DES):c.25C>G (p.Gln9Glu)	DES (Q9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281517	NM_001927.4(DES):c.30C>A (p.Arg10=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GPathogenic
Select item 497737	NM_001927.4(DES):c.55G>C (p.Gly19Arg)	DES (G19R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 380702	NM_001927.4(DES):c.63C>T (p.Ala21=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 36002	NM_001927.4(DES):c.75A>G (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +7 more	GBenign
Select item 500669	NM_001927.4(DES):c.91A>T (p.Ser31Cys)	DES (S31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 284762	NM_001927.4(DES):c.97C>T (p.Pro33Ser)	DES (P33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 264441	NM_001927.4(DES):c.109C>T (p.Arg37Trp)	DES (R37W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
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 500483	NM_001927.4(DES):c.167T>A (p.Val56Glu)	DES (V56E)	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)	Desmin-related myofibrillar myopathy +5 more	GConflicting classifications of pathogenicity
Select item 289120	NM_001927.4(DES):c.184G>A (p.Gly62Arg)	DES (G62R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44256	NM_001927.4(DES):c.193G>A (p.Gly65Ser)	DES (G65S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +5 more	GConflicting classifications of pathogenicity
Select item 282225	NM_001927.4(DES):c.210G>C (p.Arg70=)	DES	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 193219	NM_001927.4(DES):c.216C>A (p.Ser72Arg)	DES (S72R)	Single nucleotide variant (missense variant)	Cardiomyopathy +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 498618	NM_001927.4(DES):c.229A>G (p.Thr77Ala)	DES (T77A)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 166993	NM_001927.4(DES):c.237G>A (p.Thr79=)	DES	Single nucleotide variant (synonymous variant)	not provided +1 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 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 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 285007	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES (K125*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
Select item 227281	NM_001927.4(DES):c.404C>T (p.Ala135Val)	DES (A135V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 593020	NM_001927.4(DES):c.476T>C (p.Leu159Pro)	DES (L159P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290563	NM_001927.4(DES):c.567G>C (p.Arg189=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 284503	NM_001927.4(DES):c.579-5C>T	DES	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	See cases +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)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 44266	NM_001927.4(DES):c.642C>T (p.Asp214=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 36001	NM_001927.4(DES):c.669T>C (p.Ile223=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +7 more	GBenign/Likely benign
Select item 201700	NM_001927.4(DES):c.680G>A (p.Arg227His)	DES (R227H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 289081	NM_001927.4(DES):c.708C>T (p.Ile236=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 281234	NM_001927.4(DES):c.735G>A (p.Glu245=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66420	NM_001927.4(DES):c.735G>C (p.Glu245Asp)	DES (E245D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 44268	NM_001927.4(DES):c.735+1G>A	DES	Single nucleotide variant (splice donor variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 66419	NM_001927.4(DES):c.735+3A>G	DES	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GPathogenic
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 291217	NM_001927.4(DES):c.743G>A (p.Arg248His)	DES (R248H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290301	NM_001927.4(DES):c.768A>G (p.Glu256=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 285184	NM_001927.4(DES):c.817G>T (p.Ala273Ser)	DES (A273S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 285097	NM_001927.4(DES):c.822C>T (p.Leu274=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +2 more	GConflicting classifications of pathogenicity
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 66423	NM_001927.4(DES):c.893C>T (p.Ser298Leu)	DES (S298L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Myofibrillar Myopathy, Dominant +9 more	GBenign/Likely benign
Select item 283467	NM_001927.4(DES):c.924C>T (p.Asn308=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 44274	NM_001927.4(DES):c.934G>A (p.Asp312Asn)	DES (D312N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 289659	NM_001927.4(DES):c.944G>A (p.Arg315His)	DES (R315H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 598341	NM_001927.4(DES):c.962T>C (p.Met321Thr)	DES (M321T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 44242	NM_001927.4(DES):c.1014G>C (p.Leu338=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign
Select item 201706	NM_001927.4(DES):c.1027G>A (p.Asp343Asn)	DES (D343N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GUncertain significance
Select item 289633	NM_001927.4(DES):c.1030T>C (p.Ser344Pro)	DES (S344P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596421	NM_001927.4(DES):c.1049G>A (p.Arg350Gln)	DES (R350Q)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +4 more	GUncertain significance
Select item 16835	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES (R350P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 497583	NM_001927.4(DES):c.1050G>A (p.Arg350=)	DES	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66389	NM_001927.4(DES):c.1064G>C (p.Arg355Pro)	DES (R355P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66391	NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)	DES	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 66390	NM_001927.4(DES):c.1069G>C (p.Ala357Pro)	DES (A357P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 497856	NM_001927.4(DES):c.1100T>C (p.Ile367Thr)	DES (I367T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44245	NM_001927.4(DES):c.1104G>A (p.Ala368=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign
Select item 66393	NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	DES (L370P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 498347	NM_001927.4(DES):c.1148G>A (p.Arg383His)	DES (R383H)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +4 more	GConflicting classifications of pathogenicity
Select item 285963	NM_001927.4(DES):c.1158C>T (p.Arg386=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 198140	NM_001927.4(DES):c.1167G>T (p.Gln389His)	DES (Q389H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66395	NM_001927.4(DES):c.1175T>C (p.Leu392Pro)	DES (L392P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290212	NM_001927.4(DES):c.1180G>A (p.Val394Met)	DES (V394M)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 285337	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES (Y405fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 201709	NM_001927.4(DES):c.1243C>T (p.Arg415Trp)	DES (R415W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 198476	NM_001927.4(DES):c.1245-3T>G	DES	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 39718	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES (P419S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 287812	NM_001927.4(DES):c.1256C>T (p.Pro419Leu)	DES (P419L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384758	NM_001927.4(DES):c.1257C>T (p.Pro419=)	DES	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284105	NM_001927.4(DES):c.1271C>T (p.Ser424Phe)	DES (S424F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499631	NM_001927.4(DES):c.1275C>T (p.Ala425=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 16834	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES (T442I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66400	NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	DES (K449T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 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 16824	NM_001927.4(DES):c.1353C>G (p.Ile451Met)	DES (I451M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 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 +6 more	GPathogenic/Likely pathogenic
Select item 191616	NM_001927.4(DES):c.1361G>A (p.Arg454Gln)	DES (R454Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

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