DES[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1062

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343552	NM_001927.4(DES):c.-9G>A	DES	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 334450	NM_001927.4(DES):c.-6G>A	DES	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +4 more	GUncertain significance
Select item 1802376	NM_001927.4(DES):c.-2C>T	DES	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 388926	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1066470	NM_001927.4(DES):c.2T>C (p.Met1Thr)	DES (M1T)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66414	NM_001927.4(DES):c.5G>T (p.Ser2Ile)	DES (S2I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
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 836201	NM_001927.4(DES):c.7C>T (p.Gln3Ter)	DES (Q3*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1025467	NM_001927.4(DES):c.8A>G (p.Gln3Arg)	DES (Q3R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 1054531	NM_001927.4(DES):c.10G>A (p.Ala4Thr)	DES (A4T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2110362	NM_001927.4(DES):c.11C>A (p.Ala4Asp)	DES (A4D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1097857	NM_001927.4(DES):c.12C>G (p.Ala4=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	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 572025	NM_001927.4(DES):c.17C>T (p.Ser6Leu)	DES (S6L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 44255	NM_001927.4(DES):c.18G>A (p.Ser6=)	DES	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 594969	NM_001927.4(DES):c.20C>T (p.Ser7Phe)	DES (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984588	NM_001927.4(DES):c.22A>G (p.Ser8Gly)	DES (S8G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 290562	NM_001927.4(DES):c.25C>G (p.Gln9Glu)	DES (Q9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339289	NM_001927.4(DES):c.28C>T (p.Arg10Cys)	DES (R10C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 541303	NM_001927.4(DES):c.28C>A (p.Arg10Ser)	DES (R10S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1353863	NM_001927.4(DES):c.29G>A (p.Arg10His)	DES (R10H)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1438815	NM_001927.4(DES):c.30C>T (p.Arg10=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 281517	NM_001927.4(DES):c.30C>A (p.Arg10=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2939821	NM_001927.4(DES):c.31G>A (p.Val11Met)	DES (V11M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2933947	NM_001927.4(DES):c.31G>T (p.Val11Leu)	DES (V11L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2945438	NM_001927.4(DES):c.32T>C (p.Val11Ala)	DES (V11A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2167778	NM_001927.4(DES):c.36C>T (p.Ser12=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 974725	NM_001927.4(DES):c.37_578+508del	DES	Deletion (splice donor variant)	Megacolon	GUncertain significance
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 541304	NM_001927.4(DES):c.38C>A (p.Ser13Tyr)	DES (S13Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 2924047	NM_001927.4(DES):c.43C>G (p.Arg15Gly)	DES (R15G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1461140	NM_001927.4(DES):c.43C>T (p.Arg15Cys)	DES (R15C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1405121	NM_001927.4(DES):c.43C>A (p.Arg15Ser)	DES (R15S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 797828	NM_001927.4(DES):c.45C>T (p.Arg15=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 1355754	NM_001927.4(DES):c.46C>A (p.Arg16Ser)	DES (R16S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 66413	NM_001927.4(DES):c.46C>T (p.Arg16Cys)	DES (R16C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy	GPathogenic
Select item 2100776	NM_001927.4(DES):c.49A>C (p.Thr17Pro)	DES (T17P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1464473	NM_001927.4(DES):c.49A>T (p.Thr17Ser)	DES (T17S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1036431	NM_001927.4(DES):c.50C>A (p.Thr17Asn)	DES (T17N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1579817	NM_001927.4(DES):c.54C>T (p.Phe18=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
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 411153	NM_001927.4(DES):c.58G>A (p.Gly20Arg)	DES (G20R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1441213	NM_001927.4(DES):c.59G>A (p.Gly20Glu)	DES (G20E)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 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 852976	NM_001927.4(DES):c.62C>A (p.Ala21Asp)	DES (A21D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 660762	NM_001927.4(DES):c.65C>G (p.Pro22Arg)	DES (P22R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
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 2922949	NM_001927.4(DES):c.68G>C (p.Gly23Ala)	DES (G23A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 1060588	NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)	DES	Insertion (inframe_insertion)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2949380	NM_001927.4(DES):c.73C>G (p.Pro25Ala)	DES (P25A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1425184	NM_001927.4(DES):c.74_75inv (p.Pro25Leu)	DES (P25L)	Inversion (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1115281	NM_001927.4(DES):c.75A>T (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 177803	NM_001927.4(DES):c.75= (p.Pro25=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
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 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 752561	NM_001927.4(DES):c.78C>G (p.Leu26=)	DES	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1365297	NM_001927.4(DES):c.79G>C (p.Gly27Arg)	DES (G27R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 645099	NM_001927.4(DES):c.80G>A (p.Gly27Asp)	DES (G27D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 3340466	NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)	DES	Deletion (inframe_indel)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2159462	NM_001927.4(DES):c.86C>G (p.Pro29Arg)	DES (P29R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 851957	NM_001927.4(DES):c.86C>T (p.Pro29Leu)	DES (P29L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1612513	NM_001927.4(DES):c.87G>T (p.Pro29=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2079356	NM_001927.4(DES):c.88C>T (p.Leu30=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
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 177804	NM_001927.4(DES):c.93= (p.Ser31=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +7 more	GBenign
Select item 284762	NM_001927.4(DES):c.97C>T (p.Pro33Ser)	DES (P33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2184154	NM_001927.4(DES):c.100G>A (p.Val34Met)	DES (V34M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 2943907	NM_001927.4(DES):c.103T>C (p.Phe35Leu)	DES (F35L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 654053	NM_001927.4(DES):c.104T>C (p.Phe35Ser)	DES (F35S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1393027	NM_001927.4(DES):c.105C>G (p.Phe35Leu)	DES (F35L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073688	NM_001927.4(DES):c.106C>T (p.Pro36Ser)	DES (P36S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 1453500	NM_001927.4(DES):c.112del (p.Ala38fs)	DES (A38fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 966573	NM_001927.4(DES):c.110G>T (p.Arg37Leu)	DES (R37L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 2944715	NM_001927.4(DES):c.119dup (p.Gly41fs)	DES (G41fs)	Duplication (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 1339308	NM_001927.4(DES):c.117T>G (p.Gly39=)	DES	Single nucleotide variant (synonymous variant)	not specified	GLikely 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 1749831	NM_001927.4(DES):c.120C>T (p.Phe40=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1597636	NM_001927.4(DES):c.123C>T (p.Gly41=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign

<< First< Prev

Page of 11