"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66414	NM_001927.4(DES):c.5G>T (p.Ser2Ile)	DES (S2I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GPathogenic/Likely pathogenic
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 66413	NM_001927.4(DES):c.46C>T (p.Arg16Cys)	DES (R16C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy	GPathogenic
Select item 66406	NM_001927.4(DES):c.137C>T (p.Ser46Phe)	DES (S46F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66408	NM_001927.4(DES):c.322G>A (p.Glu108Lys)	DES (E108K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GConflicting classifications of pathogenicity
Select item 66410	NM_001927.4(DES):c.340_342del (p.Glu114del)	DES (E114del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66409	NM_001927.4(DES):c.338_339del (p.Gln113fs)	DES (Q113fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 66411	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES (N116S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic/Likely pathogenic
Select item 16823	NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)	DES	Deletion (inframe_deletion)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 66416	NM_001927.4(DES):c.640-2A>G	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 66415	NM_001927.4(DES):c.640-1G>A	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66417	NM_001927.4(DES):c.723dup (p.Val242fs)	DES (V242fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 66420	NM_001927.4(DES):c.735G>C (p.Glu245Asp)	DES (E245D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GPathogenic/Likely pathogenic
Select item 66418	NM_001927.4(DES):c.735+2_735+11del	DES	Deletion (splice donor variant)	not provided	Gnot provided
Select item 66419	NM_001927.4(DES):c.735+3A>G	DES	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 66422	NM_001927.4(DES):c.821T>G (p.Leu274Arg)	DES (L274R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66421	NM_001927.4(DES):c.821T>C (p.Leu274Pro)	DES (L274P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66423	NM_001927.4(DES):c.893C>T (p.Ser298Leu)	DES (S298L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +5 more	GConflicting classifications of pathogenicity
Select item 44274	NM_001927.4(DES):c.934G>A (p.Asp312Asn)	DES (D312N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +7 more	GConflicting classifications of pathogenicity
Select item 16820	NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	DES (A337P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 66387	NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	DES (L338R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 66388	NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	DES (N342D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 16825	NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES (L345P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GConflicting classifications of pathogenicity
Select item 16835	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES (R350P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
Select item 66389	NM_001927.4(DES):c.1064G>C (p.Arg355Pro)	DES (R355P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66391	NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)	DES	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 66390	NM_001927.4(DES):c.1069G>C (p.Ala357Pro)	DES (A357P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16832	NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)	DES (N366del +4 more)	Microsatellite (inframe_deletion +1 more)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66392	NM_001927.4(DES):c.1099A>T (p.Ile367Phe)	DES (I367F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66393	NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	DES (L370P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic
Select item 66394	NM_001927.4(DES):c.1126C>T (p.His376Tyr)	DES (H376Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 16829	NM_001927.4(DES):c.1154T>C (p.Leu385Pro)	DES (L385P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 16830	NM_001927.4(DES):c.1166A>C (p.Gln389Pro)	DES (Q389P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 66395	NM_001927.4(DES):c.1175T>C (p.Leu392Pro)	DES (L392P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16822	NM_001927.4(DES):c.1178A>T (p.Asn393Ile)	DES (N393I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 66396	NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)	DES (D399Y)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66397	NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	DES (E401K)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 66398	NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	DES (E413K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39718	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES (P419S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16834	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES (T442I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66399	NM_001927.4(DES):c.1333A>G (p.Thr445Ala)	DES (T445A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +4 more	GUncertain significance
Select item 66400	NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	DES (K449T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16824	NM_001927.4(DES):c.1353C>G (p.Ile451Met)	DES (I451M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 66401	NM_001927.4(DES):c.1358C>T (p.Thr453Ile)	DES (T453I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +6 more	GPathogenic/Likely pathogenic
Select item 66403	NM_001927.4(DES):c.1370A>T (p.Glu457Val)	DES (E457V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 44252	NM_001927.4(DES):c.1375G>A (p.Val459Ile)	DES (V459I)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 66404	NM_001927.4(DES):c.1379G>T (p.Ser460Ile)	DES (S460I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66407	NM_001927.4(DES):c.1405G>A (p.Val469Met)	DES (V469M)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Items: 54