ClinVar for MedGen (Select 387998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573100	NM_001927.4(DES):c.736G>A (p.Glu246Lys)	DES (E245K +1 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2502282	NM_001927.4(DES):c.1273G>C (p.Ala425Pro)	DES (A281P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2502206	Single allele	DES, LOC110121267 +2 more	Duplication	Dilated cardiomyopathy 1I	GUncertain significance
Select item 1802216	NM_001927.4(DES):c.906C>T (p.Asp302=)	DES	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1I	GUncertain significance
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 1470578	NM_001927.4(DES):c.245C>T (p.Ser82Phe)	DES (S82F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 1466627	NM_001927.4(DES):c.977A>G (p.His326Arg)	DES (H325R +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1448587	NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)	DES (R346C +4 more)	Indel (missense variant +1 more)	Desmin-related myofibrillar myopathy +3 more	GUncertain significance
Select item 1360780	NM_001927.4(DES):c.615G>C (p.Glu205Asp)	DES (E205D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1310579	NM_001927.4(DES):c.494A>G (p.Gln165Arg)	DES (Q165R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1303521	NM_001927.4(DES):c.1258A>C (p.Ile420Leu)	DES (I276L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 1051944	NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)	DES (E283del +4 more)	Microsatellite (inframe_deletion +1 more)	Dilated cardiomyopathy 1I +2 more	GUncertain significance
Select item 1015740	NM_001927.4(DES):c.1079C>T (p.Ala360Val)	DES (A270V +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 1012337	NM_001927.4(DES):c.83C>T (p.Ser28Phe)	DES (S28F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1011900	NM_001927.4(DES):c.517C>A (p.Arg173Ser)	DES (R173S)	Single nucleotide variant (missense variant +1 more)	Neurogenic scapuloperoneal syndrome, Kaeser type +3 more	GUncertain significance
Select item 1008196	NM_001927.4(DES):c.182G>A (p.Gly61Asp)	DES (G61D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 1002861	NM_001927.4(DES):c.404C>G (p.Ala135Gly)	DES (A135G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +2 more	GUncertain significance
Select item 898621	NM_001927.4(DES):c.*475T>G	DES	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1I +2 more	GBenign/Likely benign
Select item 898565	NM_001927.4(DES):c.*112C>G	DES	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1I +2 more	GConflicting classifications of pathogenicity
Select item 898564	NM_001927.4(DES):c.*51C>A	DES	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1I +2 more	GConflicting classifications of pathogenicity
Select item 897464	NM_001927.4(DES):c.*308C>A	DES	Single nucleotide variant (3 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GConflicting classifications of pathogenicity
Select item 897046	NM_001927.4(DES):c.*695C>T	DES	Single nucleotide variant (3 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 896977	NM_001927.4(DES):c.*295G>A	DES	Single nucleotide variant (3 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 896976	NM_001927.4(DES):c.*280G>A	DES	Single nucleotide variant (3 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 896829	NM_001927.4(DES):c.735+11G>A	DES	Single nucleotide variant (intron variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GConflicting classifications of pathogenicity
Select item 895572	NM_001927.4(DES):c.*114G>T	DES	Single nucleotide variant (3 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 895360	NM_001927.4(DES):c.247T>C (p.Tyr83His)	DES (Y83H)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 895278	NM_001927.4(DES):c.-54C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 851152	NM_001927.4(DES):c.817G>A (p.Ala273Thr)	DES (A273T)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 804737	NM_001927.4(DES):c.322G>T (p.Glu108Ter)	DES (E108*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +3 more	GPathogenic
Select item 696750	NM_001927.4(DES):c.1272T>C (p.Ser424=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 660762	NM_001927.4(DES):c.65C>G (p.Pro22Arg)	DES (P22R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 646696	NM_001927.4(DES):c.662C>T (p.Ala221Val)	DES (A221V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 643624	NM_001927.4(DES):c.226del (p.Thr76fs)	DES (T76fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1I +2 more	GPathogenic
Select item 639517	NM_001927.4(DES):c.1288+1G>A	DES	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1I +4 more	GConflicting classifications of pathogenicity
Select item 626715	NM_001927.4(DES):c.1325C>A (p.Thr442Asn)	DES (T442N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GUncertain significance
Select item 626714	NM_001927.4(DES):c.1244G>A (p.Arg415Gln)	DES (R415Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
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 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 582559	NM_001927.4(DES):c.93T>G (p.Ser31Arg)	DES (S31R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +4 more	GUncertain significance
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 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 498618	NM_001927.4(DES):c.229A>G (p.Thr77Ala)	DES (T77A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GConflicting classifications of pathogenicity
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 496146	NM_001927.4(DES):c.1105C>T (p.Arg369Cys)	DES (R369C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 488165	NM_001927.4(DES):c.541G>A (p.Asp181Asn)	DES (D181N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +1 more	GUncertain significance
Select item 451940	NM_001927.4(DES):c.728A>G (p.His243Arg)	DES (H243R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GUncertain significance
Select item 434937	NM_001927.4(DES):c.466G>A (p.Glu156Lys)	DES (E156K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 418796	NM_001927.4(DES):c.109C>G (p.Arg37Gly)	DES (R37G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 411147	NM_001927.4(DES):c.391C>A (p.Gln131Lys)	DES (Q131K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 411145	NM_001927.4(DES):c.1064G>A (p.Arg355Gln)	DES (R355Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 382176	NM_001927.4(DES):c.1009G>A (p.Ala337Thr)	DES (A337T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +5 more	GUncertain significance
Select item 377769	NM_001927.4(DES):c.1217G>A (p.Arg406Gln)	DES (R406Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +5 more	GUncertain significance
Select item 334457	NM_001927.4(DES):c.*662G>A	DES	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 334455	NM_001927.4(DES):c.*559G>A	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 334454	NM_001927.4(DES):c.*489G>A	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 334453	NM_001927.4(DES):c.*468G>T	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +4 more	GBenign/Likely benign
Select item 334452	NM_001927.4(DES):c.*428G>C	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 334451	NM_001927.4(DES):c.*198G>A	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 334450	NM_001927.4(DES):c.-6G>A	DES	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GUncertain significance
Select item 334449	NM_001927.4(DES):c.-74C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
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 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 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 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 258491	NM_001927.4(DES):c.579-38C>T	DES	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 239072	NM_001927.4(DES):c.1038G>A (p.Met346Ile)	DES (M346I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 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 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 201717	NM_001927.4(DES):c.233G>T (p.Arg78Leu)	DES (R78L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 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 201708	NM_001927.4(DES):c.1205T>C (p.Ile402Thr)	DES (I402T)	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 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 201702	NM_001927.4(DES):c.727C>T (p.His243Tyr)	DES (H243Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 201698	NM_001927.4(DES):c.-44G>A	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 201697	NM_001927.4(DES):c.640-16G>A	DES	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 178016	NM_001927.4(DES):c.665G>A (p.Arg222His)	DES (R222H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GConflicting classifications of pathogenicity
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 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 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 66408	NM_001927.4(DES):c.322G>A (p.Glu108Lys)	DES (E108K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 66399	NM_001927.4(DES):c.1333A>G (p.Thr445Ala)	DES (T445A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Myofibrillar Myopathy, Dominant +9 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 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 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 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 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 44263	NM_001927.4(DES):c.578+11G>A	DES	Single nucleotide variant (intron variant)	Myofibrillar Myopathy, Dominant +5 more	GBenign
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 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 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 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

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