"Ambry Genetics"[submitter] AND "DES"[gene] - 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 +2 more	GConflicting classifications of pathogenicity
Select item 1768930	NM_001927.4(DES):c.9G>A (p.Gln3=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 2497629	NM_001927.4(DES):c.15C>A (p.Tyr5Ter)	DES (Y5*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1436615	NM_001927.4(DES):c.17C>G (p.Ser6Trp)	DES (S6W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
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 1002791	NM_001927.4(DES):c.37T>C (p.Ser13Pro)	DES (S13P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1415375	NM_001927.4(DES):c.40T>C (p.Tyr14His)	DES (Y14H)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
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 1108746	NM_001927.4(DES):c.60G>A (p.Gly20=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 859085	NM_001927.4(DES):c.66G>A (p.Pro22=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2461390	NM_001927.4(DES):c.68G>A (p.Gly23Asp)	DES (G23D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
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 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 1012337	NM_001927.4(DES):c.83C>T (p.Ser28Phe)	DES (S28F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1791702	NM_001927.4(DES):c.109C>A (p.Arg37=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely 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 3271653	NM_001927.4(DES):c.113C>T (p.Ala38Val)	DES (A38V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44247	NM_001927.4(DES):c.114G>T (p.Ala38=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +2 more	GLikely benign
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 1052401	NM_001927.4(DES):c.115G>A (p.Gly39Ser)	DES (G39S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749831	NM_001927.4(DES):c.120C>T (p.Phe40=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518863	NM_001927.4(DES):c.144G>A (p.Ser48=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3221931	NM_001927.4(DES):c.158T>C (p.Val53Ala)	DES (V53A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1778947	NM_001927.4(DES):c.172C>T (p.Arg58Cys)	DES (R58C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779176	NM_001927.4(DES):c.173G>T (p.Arg58Leu)	DES (R58L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3271656	NM_001927.4(DES):c.177G>A (p.Thr59=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1782483	NM_001927.4(DES):c.190G>A (p.Gly64Arg)	DES (G64R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783036	NM_001927.4(DES):c.193G>C (p.Gly65Arg)	DES (G65R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 541300	NM_001927.4(DES):c.196C>A (p.Leu66Met)	DES (L66M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 3271654	NM_001927.4(DES):c.204G>A (p.Ser68=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1785367	NM_001927.4(DES):c.206T>C (p.Leu69Pro)	DES (L69P)	Single nucleotide variant (missense variant)	not provided +2 more	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 2493537	NM_001927.4(DES):c.221T>C (p.Leu74Pro)	DES (L74P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 179286	NM_001927.4(DES):c.243C>T (p.Ser81=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2450705	NM_001927.4(DES):c.246C>T (p.Ser82=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely 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 1057158	NM_001927.4(DES):c.258C>T (p.Gly86=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 474287	NM_001927.4(DES):c.268G>C (p.Asp90His)	DES (D90H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1796562	NM_001927.4(DES):c.282C>T (p.Ala94=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 44257	NM_001927.4(DES):c.282C>G (p.Ala94=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 263554	NM_001927.4(DES):c.286G>T (p.Ala96Ser)	DES (A96S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1083770	NM_001927.4(DES):c.291G>A (p.Val97=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
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 1799152	NM_001927.4(DES):c.303T>C (p.Phe101=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 201720	NM_001927.4(DES):c.313C>T (p.Arg105Cys)	DES (R105C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450703	NM_001927.4(DES):c.314G>C (p.Arg105Pro)	DES (R105P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450702	NM_001927.4(DES):c.314_315delinsCT (p.Arg105Pro)	DES (R105P)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450704	NM_001927.4(DES):c.315C>T (p.Arg105=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1009996	NM_001927.4(DES):c.323A>G (p.Glu108Gly)	DES (E108G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
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 945971	NM_001927.4(DES):c.326A>G (p.Lys109Arg)	DES (K109R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
Select item 1729726	NM_001927.4(DES):c.327G>C (p.Lys109Asn)	DES (K109N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1730988	NM_001927.4(DES):c.339G>A (p.Gln113=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 1146431	NM_001927.4(DES):c.348T>C (p.Asn116=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 1021778	NM_001927.4(DES):c.349G>C (p.Asp117His)	DES (D117H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1732242	NM_001927.4(DES):c.351C>T (p.Asp117=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1094956	NM_001927.4(DES):c.357C>T (p.Phe119=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2450698	NM_001927.4(DES):c.359C>G (p.Ala120Gly)	DES (A120G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 541309	NM_001927.4(DES):c.360C>T (p.Ala120=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1054937	NM_001927.4(DES):c.361A>C (p.Asn121His)	DES (N121H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 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 2290806	NM_001927.4(DES):c.396G>C (p.Gln132His)	DES (Q132H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1051933	NM_001927.4(DES):c.406C>G (p.Leu136Val)	DES (L136V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1671693	NM_001927.4(DES):c.411C>T (p.Ala137=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1593825	NM_001927.4(DES):c.414C>G (p.Ala138=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely 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 1739162	NM_001927.4(DES):c.425G>C (p.Arg142Pro)	DES (R142P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 2624677	NM_001927.4(DES):c.429C>T (p.Leu143=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739985	NM_001927.4(DES):c.435C>A (p.Gly145=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 263361	NM_001927.4(DES):c.438C>G (p.Arg146=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740290	NM_001927.4(DES):c.439G>A (p.Glu147Lys)	DES (E147K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1146819	NM_001927.4(DES):c.444G>A (p.Pro148=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1740814	NM_001927.4(DES):c.446C>G (p.Thr149Arg)	DES (T149R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740896	NM_001927.4(DES):c.447G>A (p.Thr149=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1741087	NM_001927.4(DES):c.450A>C (p.Arg150=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1741543	NM_001927.4(DES):c.456C>T (p.Ala152=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 1741869	NM_001927.4(DES):c.460C>A (p.Leu154Ile)	DES (L154I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign

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