"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 859085	NM_001927.4(DES):c.66G>A (p.Pro22=)	DES	Single nucleotide variant (synonymous variant)	DES-related condition +2 more	GConflicting classifications of pathogenicity
Select item 36002	NM_001927.4(DES):c.75A>G (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 179455	NM_001927.4(DES):c.79G>A (p.Gly27Ser)	DES (G27S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GUncertain significance
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 44246	NM_001927.4(DES):c.114G>A (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
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 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 137077	NM_001927.4(DES):c.324G>A (p.Glu108=)	DES	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 44258	NM_001927.4(DES):c.372G>A (p.Glu124=)	DES	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 44262	NM_001927.4(DES):c.408C>T (p.Leu136=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 44263	NM_001927.4(DES):c.578+11G>A	DES	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +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)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 382854	NM_001927.4(DES):c.640-17C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 1284590	NM_001927.4(DES):c.664C>T (p.Arg222Cys)	DES (R221C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 36001	NM_001927.4(DES):c.669T>C (p.Ile223=)	DES	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 44269	NM_001927.4(DES):c.735+20C>T	DES	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 44270	NM_001927.4(DES):c.785A>T (p.Glu262Val)	DES (E262V)	Single nucleotide variant (missense variant)	DES-related condition +5 more	GConflicting classifications of pathogenicity
Select item 44271	NM_001927.4(DES):c.792C>T (p.Asp264=)	DES	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 44272	NM_001927.4(DES):c.828C>T (p.Asp276=)	DES	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 283467	NM_001927.4(DES):c.924C>T (p.Asn308=)	DES	Single nucleotide variant (synonymous variant)	DES-related condition +7 more	GConflicting classifications of pathogenicity
Select item 44242	NM_001927.4(DES):c.1014G>C (p.Leu338=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +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 44245	NM_001927.4(DES):c.1104G>A (p.Ala368=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +6 more	GBenign
Select item 201707	NM_001927.4(DES):c.1123C>T (p.Arg375Trp)	DES (R375W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
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 44252	NM_001927.4(DES):c.1375G>A (p.Val459Ile)	DES (V459I)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +8 more	GBenign/Likely benign

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Items: 28