DES[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 388926	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1066470	NM_001927.4(DES):c.2T>C (p.Met1Thr)	DES (M1T)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66414	NM_001927.4(DES):c.5G>T (p.Ser2Ile)	DES (S2I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
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 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 66413	NM_001927.4(DES):c.46C>T (p.Arg16Cys)	DES (R16C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy	GPathogenic
Select item 1453500	NM_001927.4(DES):c.112del (p.Ala38fs)	DES (A38fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2944715	NM_001927.4(DES):c.119dup (p.Gly41fs)	DES (G41fs)	Duplication (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66405	NM_001927.4(DES):c.137C>A (p.Ser46Tyr)	DES (S46Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1075242	NM_001927.4(DES):c.194dup (p.Leu66fs)	DES (L66fs)	Duplication (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 643624	NM_001927.4(DES):c.226del (p.Thr76fs)	DES (T76fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1I +2 more	GPathogenic
Select item 2937905	NM_001927.4(DES):c.249C>A (p.Tyr83Ter)	DES (Y83*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 836891	NM_001927.4(DES):c.254_255insT (p.Gly86fs)	DES (G86fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2132276	NM_001927.4(DES):c.300dup (p.Phe101fs)	DES (F101fs)	Duplication (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1073348	NM_001927.4(DES):c.309del (p.Thr104fs)	DES (T104fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 804737	NM_001927.4(DES):c.322G>T (p.Glu108Ter)	DES (E108*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 548445	NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)	DES	Deletion (inframe_deletion)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2169507	NM_001927.4(DES):c.343C>A (p.Leu115Ile)	DES (L115I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2171104	NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)	DES	Indel (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
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 201721	NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	DES (Y122D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 285007	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES (K125*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 977180	NM_001927.4(DES):c.376G>A (p.Val126Met)	DES (V126M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 411124	NM_001927.4(DES):c.394C>T (p.Gln132Ter)	DES (Q132*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2637262	NM_001927.4(DES):c.400_410del (p.Ala134fs)	DES (A134fs)	Deletion (frameshift variant)	DES-related disorder	GLikely pathogenic
Select item 265811	NM_001927.4(DES):c.407T>C (p.Leu136Pro)	DES (L136P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1075297	NM_001927.4(DES):c.452_459del (p.Val151fs)	DES (V151fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 265817	NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer)	DES	Indel (inframe_indel)	Dilated cardiomyopathy 1S	GPathogenic
Select item 575355	NM_001927.4(DES):c.514C>T (p.Gln172Ter)	DES (Q172*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2091637	NM_001927.4(DES):c.525_526dup (p.Val176fs)	DES (V176fs)	Microsatellite (frameshift variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 16823	NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)	DES	Deletion (inframe_deletion)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1069497	NM_001927.4(DES):c.525_526del (p.Val176fs)	DES (V176fs)	Microsatellite (frameshift variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2943144	NM_001927.4(DES):c.549_564del (p.Leu184fs)	DES (L184fs)	Deletion (frameshift variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2948714	NM_001927.4(DES):c.579-2A>C	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 1425778	NM_001927.4(DES):c.599T>A (p.Leu200Ter)	DES (L200*)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2439698	NM_001927.4(DES):c.604del (p.Glu202fs)	DES (E202fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 201722	NM_001927.4(DES):c.634C>T (p.Arg212Ter)	DES (R212*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +4 more	GPathogenic/Likely pathogenic
Select item 180206	NM_001927.4(DES):c.639+4_639+5del	DES	Deletion (intron variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66415	NM_001927.4(DES):c.640-1G>A	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1334101	NM_001927.4(DES):c.700G>T (p.Glu234Ter)	DES (E233* +1 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1322203	NM_001927.4(DES):c.720_722del (p.Lys241del)	DES (K240del +1 more)	Deletion (inframe_deletion +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2110352	NM_001927.4(DES):c.732_735+3del	DES	Deletion (splice donor variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
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 578016	NM_001927.4(DES):c.735+1G>T	DES	Single nucleotide variant (splice donor variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 163027	NM_001927.4(DES):c.735+1G>C	DES	Single nucleotide variant (splice donor variant +1 more)	Desmin-related myofibrillar myopathy	GLikely 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 2439694	NM_001927.4(DES):c.735+2T>C	DES	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1705619	NM_001927.4(DES):c.735+2T>G	DES	Single nucleotide variant (splice donor variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66419	NM_001927.4(DES):c.735+3A>G	DES	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 2663344	NM_001927.4(DES):c.757C>T (p.Gln253Ter)	DES (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2941284	NM_001927.4(DES):c.769C>T (p.Gln257Ter)	DES (Q167* +2 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1328046	NM_001927.4(DES):c.816dup (p.Ala273fs)	DES (A183fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1071184	NM_001927.4(DES):c.885G>A (p.Trp295Ter)	DES (W294* +2 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 1329235	NM_001927.4(DES):c.948_952del (p.Lys318fs)	DES (K228fs +2 more)	Deletion (frameshift variant +1 more)	DES-related disorder +1 more	GLikely pathogenic
Select item 872137	NM_001927.4(DES):c.973C>T (p.Arg325Ter)	DES (R325*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 16820	NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	DES (A337P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +1 more	GPathogenic
Select item 2941643	NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)	DES (L337R +2 more)	Indel (missense variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 239071	NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	DES (L338P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66387	NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	DES (L338R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 66388	NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	DES (N342D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 838066	NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)	DES	Duplication (inframe_insertion)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 16825	NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES (L345P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617786	NM_001927.4(DES):c.1043A>C (p.Gln348Pro)	DES (Q348P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 16835	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES (R350P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
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 947073	NM_001927.4(DES):c.1055T>C (p.Leu352Ser)	DES (L262S +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
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 16821	NM_001927.4(DES):c.1078G>C (p.Ala360Pro)	DES (A360P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 801900	NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)	DES	Deletion (inframe_deletion)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1453987	NM_001927.4(DES):c.1090C>T (p.Gln364Ter)	DES (Q363* +3 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
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 1471108	NM_001927.4(DES):c.1130T>C (p.Leu377Pro)	DES (L287P +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 641138	NM_001927.4(DES):c.1132_1153del (p.Lys378fs)	DES (K378fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 522692	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES (H384R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GLikely pathogenic
Select item 16829	NM_001927.4(DES):c.1154T>C (p.Leu385Pro)	DES (L385P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1332983	NM_001927.4(DES):c.1158_1160delinsTACCAGGACCTGCTG (p.Glu387delinsThrArgThrCysTrp)	DES	Indel (inframe_indel +1 more)	Progressive familial heart block +1 more	GLikely pathogenic
Select item 16830	NM_001927.4(DES):c.1166A>C (p.Gln389Pro)	DES (Q389P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1988221	NM_001927.4(DES):c.1171del (p.Leu391fs)	DES (L247fs +5 more)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66396	NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)	DES (D399Y)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66397	NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	DES (E401K)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 969855	NM_001927.4(DES):c.1202A>G (p.Glu401Gly)	DES (E394G +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 285337	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES (Y405fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
Select item 1501730	NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)	DES (Y382S +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 2109936	NM_001927.4(DES):c.1217G>C (p.Arg406Pro)	DES (R405P +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 280206	NM_001927.4(DES):c.1223del (p.Leu408fs)	DES (L408fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 639669	NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	DES (E413*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66398	NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	DES (E413K)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2065034	NM_001927.4(DES):c.1244+1G>A	DES	Single nucleotide variant (splice donor variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 522796	NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES (P419fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
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 177872	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES (R429*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +4 more	GPathogenic/Likely pathogenic
Select item 1675841	NM_001927.4(DES):c.1289-741G>A	DES	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 56823	NM_001927.4(DES):c.1289-2A>G	DES	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic

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