"GeneDx"[submitter] AND "DES"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 669426	NM_001927.3(DES):c.-281C>T	DES, DES-LCR	Single nucleotide variant	not provided	GLikely benign
Select item 672013	NM_001927.3(DES):c.-230C>T	DES, DES-LCR	Single nucleotide variant	not provided	GBenign
Select item 1234653	NC_000002.12:g.219418370G>T	DES, DES-LCR	Single nucleotide variant	not provided	GBenign
Select item 516001	NM_001927.4(DES):c.-47C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 670193	NM_001927.4(DES):c.-31T>A	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 201699	NM_001927.4(DES):c.-30_-18dup	DES, DES-LCR	Duplication (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1297205	NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC	DES, DES-LCR	Insertion (5 prime UTR variant)	not provided	GBenign
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 388926	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 416615	NM_001927.4(DES):c.12C>A (p.Ala4=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 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 2440744	NM_001927.4(DES):c.61G>A (p.Ala21Thr)	DES (A21T)	Single nucleotide variant (missense variant)	not provided +1 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 423612	NM_001927.4(DES):c.77T>A (p.Leu26His)	DES (L26H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 179455	NM_001927.4(DES):c.79G>A (p.Gly27Ser)	DES (G27S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 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 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 227284	NM_001927.4(DES):c.99C>T (p.Pro33=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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 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 2506834	NM_001927.4(DES):c.119T>C (p.Phe40Ser)	DES (F40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421043	NM_001927.4(DES):c.130G>A (p.Gly44Ser)	DES (G44S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 201711	NM_001927.4(DES):c.146T>C (p.Val49Ala)	DES (V49A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 669064	NM_001927.4(DES):c.150G>T (p.Thr50=)	DES	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 201712	NM_001927.4(DES):c.154C>A (p.Arg52Ser)	DES (R52S)	Single nucleotide variant (missense variant)	not specified +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 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 848943	NM_001927.4(DES):c.188C>A (p.Ala63Asp)	DES (A63D)	Single nucleotide variant (missense variant)	not provided +1 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 3371255	NM_001927.4(DES):c.212C>G (p.Ala71Gly)	DES (A71G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Dilated cardiomyopathy 1I +4 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 388324	NM_001927.4(DES):c.258C>G (p.Gly86=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +2 more	GLikely benign
Select item 432586	NM_001927.4(DES):c.262_263inv (p.Leu88Arg)	DES (L88R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 201718	NM_001927.4(DES):c.295C>G (p.Gln99Glu)	DES (Q99E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 201719	NM_001927.4(DES):c.299A>C (p.Glu100Ala)	DES (E100A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1590313	NM_001927.4(DES):c.300G>A (p.Glu100=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2576828	NM_001927.4(DES):c.313C>G (p.Arg105Gly)	DES (R105G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1304501	NM_001927.4(DES):c.327G>T (p.Lys109Asn)	DES (K109N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421688	NM_001927.4(DES):c.328G>C (p.Val110Leu)	DES (V110L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1304524	NM_001927.4(DES):c.348T>A (p.Asn116Lys)	DES (N116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306723	NM_001927.4(DES):c.352C>T (p.Arg118Cys)	DES (R118C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201726	NM_001927.4(DES):c.358G>C (p.Ala120Pro)	DES (A120P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
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 3342354	NM_001927.4(DES):c.367A>T (p.Ile123Phe)	DES (I123F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2943860	NM_001927.4(DES):c.368T>G (p.Ile123Ser)	DES (I123S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305123	NM_001927.4(DES):c.368T>A (p.Ile123Asn)	DES (I123N)	Single nucleotide variant (missense variant)	not provided	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 1055317	NM_001927.4(DES):c.379C>G (p.Arg127Gly)	DES (R127G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44259	NM_001927.4(DES):c.380G>C (p.Arg127Pro)	DES (R127P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
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 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 1311914	NM_001927.4(DES):c.415G>C (p.Glu139Gln)	DES (E139Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1237251	NM_001927.4(DES):c.423C>T (p.Asn141=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GBenign/Likely benign
Select item 426334	NM_001927.4(DES):c.473A>T (p.Glu158Val)	DES (E158V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304314	NM_001927.4(DES):c.479G>A (p.Arg160Gln)	DES (R160Q)	Single nucleotide variant (missense variant)	not provided	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 2931478	NM_001927.4(DES):c.520G>A (p.Ala174Thr)	DES (A174T)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 387788	NM_001927.4(DES):c.528C>G (p.Val176=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 393156	NM_001927.4(DES):c.529G>A (p.Asp177Asn)	DES (D177N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 513384	NM_001927.4(DES):c.540C>T (p.Arg180=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2134690	NM_001927.4(DES):c.543C>G (p.Asp181Glu)	DES (D181E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 508807	NM_001927.4(DES):c.552C>T (p.Leu184=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 655566	NM_001927.4(DES):c.558C>G (p.Asp186Glu)	DES (D186E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422889	NM_001927.4(DES):c.566G>A (p.Arg189Gln)	DES (R189Q)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 1063533	NM_001927.4(DES):c.571A>G (p.Lys191Glu)	DES (K191E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1289572	NM_001927.4(DES):c.578+64T>G	DES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280708	NM_001927.4(DES):c.579-100G>C	DES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258491	NM_001927.4(DES):c.579-38C>T	DES	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 2948714	NM_001927.4(DES):c.579-2A>C	DES	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 682482	NM_001927.4(DES):c.600G>A (p.Leu200=)	DES	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 264129	NM_001927.4(DES):c.609A>C (p.Glu203Asp)	DES (E203D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2418885	NM_001927.4(DES):c.623T>G (p.Leu208Trp)	DES (L208W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 421200	NM_001927.4(DES):c.623T>C (p.Leu208Ser)	DES (L208S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 546199	NM_001927.4(DES):c.625G>C (p.Ala209Pro)	DES (A209P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 451514	NM_001927.4(DES):c.637G>A (p.Ala213Thr)	DES (A213T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 201697	NM_001927.4(DES):c.640-16G>A	DES	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 381324	NM_001927.4(DES):c.640-4C>G	DES	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign

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