"PreventionGenetics, part of Exact Sciences"[submitter] AND "DES"[gene - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631293	NM_001927.4(DES):c.7C>G (p.Gln3Glu)	DES (Q3E)	Single nucleotide variant (missense variant)	DES-related disorder	GUncertain significance
Select item 859085	NM_001927.4(DES):c.66G>A (p.Pro22=)	DES	Single nucleotide variant (synonymous variant)	DES-related disorder +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 specified +7 more	GBenign
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +7 more	GBenign
Select item 227284	NM_001927.4(DES):c.99C>T (p.Pro33=)	DES	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 44246	NM_001927.4(DES):c.114G>A (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +6 more	GBenign/Likely benign
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)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 2637262	NM_001927.4(DES):c.400_410del (p.Ala134fs)	DES (A134fs)	Deletion (frameshift variant)	DES-related disorder	GLikely pathogenic
Select item 1651655	NM_001927.4(DES):c.402G>A (p.Ala134=)	DES	Single nucleotide variant (synonymous variant)	DES-related disorder +1 more	GLikely benign
Select item 44262	NM_001927.4(DES):c.408C>T (p.Leu136=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +6 more	GBenign/Likely benign
Select item 700187	NM_001927.4(DES):c.489G>A (p.Arg163=)	DES	Single nucleotide variant (synonymous variant)	DES-related disorder +2 more	GLikely benign
Select item 541307	NM_001927.4(DES):c.578+10C>T	DES	Single nucleotide variant (intron variant)	DES-related disorder +1 more	GLikely 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 258491	NM_001927.4(DES):c.579-38C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy +4 more	GBenign
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Cardiomyopathy +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 36001	NM_001927.4(DES):c.669T>C (p.Ile223=)	DES	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +7 more	GBenign/Likely benign
Select item 44269	NM_001927.4(DES):c.735+20C>T	DES	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258492	NM_001927.4(DES):c.736-35C>A	DES	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3029613	NM_001927.4(DES):c.736-3C>T	DES	Single nucleotide variant (intron variant)	DES-related disorder	GLikely benign
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 44271	NM_001927.4(DES):c.792C>T (p.Asp264=)	DES	Single nucleotide variant (synonymous variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +7 more	GBenign/Likely benign
Select item 44272	NM_001927.4(DES):c.828C>T (p.Asp276=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +6 more	GBenign
Select item 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Dilated Cardiomyopathy, Dominant +10 more	GBenign/Likely benign
Select item 3031969	NM_001927.4(DES):c.898-38C>T	DES	Single nucleotide variant (intron variant)	DES-related disorder	GLikely benign
Select item 3029618	NM_001927.4(DES):c.898-37A>G	DES	Single nucleotide variant (intron variant)	DES-related disorder	GLikely benign
Select item 283467	NM_001927.4(DES):c.924C>T (p.Asn308=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +7 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 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 44242	NM_001927.4(DES):c.1014G>C (p.Leu338=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +6 more	GBenign
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 44245	NM_001927.4(DES):c.1104G>A (p.Ala368=)	DES	Single nucleotide variant (synonymous variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +6 more	GBenign
Select item 1479493	NM_001927.4(DES):c.1147C>A (p.Arg383Ser)	DES (R293S +4 more)	Single nucleotide variant (missense variant +1 more)	DES-related disorder +1 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 384758	NM_001927.4(DES):c.1257C>T (p.Pro419=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 228546	NM_001927.4(DES):c.1372-3dup	DES	Duplication	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44252	NM_001927.4(DES):c.1375G>A (p.Val459Ile)	DES (V459I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign

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Items: 38