ClinVar for Gene (Select 1674) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362673	NM_001927.4(DES):c.152C>A (p.Ser51Tyr)	DES (S51Y)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 3340466	NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)	DES	Deletion (inframe_indel)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3339912	NM_001927.4(DES):c.1024-5T>G	DES	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336534	NM_001927.4(DES):c.745G>A (p.Glu249Lys)	DES (E248K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271657	NM_001927.4(DES):c.907C>A (p.Leu303Met)	DES (L213M +2 more)	Single nucleotide variant (missense variant +1 more)	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 3271654	NM_001927.4(DES):c.204G>A (p.Ser68=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3247400	NC_000002.11:g.(?_220286089)_(220292091_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247399	NC_000002.11:g.(?_220283185)_(220314013_?)dup	DES, SPEG	Duplication	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247398	NC_000002.11:g.(?_220283513)_(220299541_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3233254	NM_001927.4(DES):c.949G>C (p.Ala317Pro)	DES (A227P +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3221932	NM_001927.4(DES):c.563A>G (p.Gln188Arg)	DES (Q188R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 3221929	NM_001927.4(DES):c.1363del (p.Asp455fs)	DES (D311fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221928	NM_001927.4(DES):c.1306del (p.Arg436fs)	DES (R292fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221927	NM_001927.4(DES):c.1302G>A (p.Glu434=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3075876	NM_001927.4(DES):c.1396C>T (p.Gln466Ter)	DES (Q322* +5 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 3069155	NM_001927.4(DES):c.367A>C (p.Ile123Leu)	DES (I123L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3068979	NM_001927.4(DES):c.499G>C (p.Glu167Gln)	DES (E167Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065242	NM_001927.4(DES):c.1213T>C (p.Tyr405His)	DES (Y261H +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 3029613	NM_001927.4(DES):c.736-3C>T	DES	Single nucleotide variant (intron variant)	DES-related disorder	GLikely benign
Select item 3024113	NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)	DES	Microsatellite (inframe_insertion +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2954046	NM_001927.4(DES):c.1146C>T (p.Ala382=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2953801	NM_001927.4(DES):c.1045A>G (p.Met349Val)	DES (M348V +3 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2953673	NM_001927.4(DES):c.854C>G (p.Ala285Gly)	DES (A284G +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2952689	NM_001927.4(DES):c.435C>T (p.Gly145=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2952593	NM_001927.4(DES):c.1151A>C (p.His384Pro)	DES (H361P +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2952504	NM_001927.4(DES):c.897+20G>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2952114	NM_001927.4(DES):c.188C>T (p.Ala63Val)	DES (A63V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2951441	NM_001927.4(DES):c.138C>A (p.Ser46=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2951321	NM_001927.4(DES):c.1023+11G>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2950654	NM_001927.4(DES):c.1349C>T (p.Thr450Ile)	DES (T427I +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2949962	NM_001927.4(DES):c.436C>G (p.Arg146Gly)	DES (R146G)	Single nucleotide variant (missense variant)	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 2948964	NM_001927.4(DES):c.254C>T (p.Ala85Val)	DES (A85V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
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 2948059	NM_001927.4(DES):c.987G>A (p.Gln329=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2947836	NM_001927.4(DES):c.897+16C>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2947107	NM_001927.4(DES):c.238C>T (p.Pro80Ser)	DES (P80S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2947025	NM_001927.4(DES):c.919G>T (p.Ala307Ser)	DES (A306S +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2946867	NM_001927.4(DES):c.986A>G (p.Gln329Arg)	DES (Q328R +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2946705	NM_001927.4(DES):c.439G>C (p.Glu147Gln)	DES (E147Q)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2945813	NM_001927.4(DES):c.1118A>C (p.Glu373Ala)	DES (E366A +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2945686	NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)	DES	Deletion (inframe_deletion +1 more)	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 2944715	NM_001927.4(DES):c.119dup (p.Gly41fs)	DES (G41fs)	Duplication (frameshift variant)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2944582	NM_001927.4(DES):c.897+19_897+20del	DES	Deletion (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2944505	NM_001927.4(DES):c.829_831del (p.Ile277del)	DES (I187del +2 more)	Deletion (inframe_deletion +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2943969	NM_001927.4(DES):c.897+17G>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
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 2943860	NM_001927.4(DES):c.368T>G (p.Ile123Ser)	DES (I123S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2943844	NM_001927.4(DES):c.252C>T (p.Gly84=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2943780	NM_001927.4(DES):c.164A>T (p.Gln55Leu)	DES (Q55L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2943439	NM_001927.4(DES):c.1218G>T (p.Arg406=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2943144	NM_001927.4(DES):c.549_564del (p.Leu184fs)	DES (L184fs)	Deletion (frameshift variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2942772	NM_001927.4(DES):c.409G>A (p.Ala137Thr)	DES (A137T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2942343	NM_001927.4(DES):c.1322A>C (p.His441Pro)	DES (H418P +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2941958	NM_001927.4(DES):c.1035G>A (p.Leu345=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2941643	NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)	DES (L337R +2 more)	Indel (missense variant +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2941284	NM_001927.4(DES):c.769C>T (p.Gln257Ter)	DES (Q167* +2 more)	Single nucleotide variant (nonsense +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2941160	NM_001927.4(DES):c.163C>T (p.Gln55Ter)	DES (Q55*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic/Likely pathogenic
Select item 2940803	NM_001927.4(DES):c.736-8C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2940081	NM_001927.4(DES):c.869C>G (p.Ser290Cys)	DES (S289C +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2940014	NM_001927.4(DES):c.299A>G (p.Glu100Gly)	DES (E100G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	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 2939076	NM_001927.4(DES):c.1062C>T (p.Asp354=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2938927	NM_001927.4(DES):c.553G>A (p.Asp185Asn)	DES (D185N)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2938491	NM_001927.4(DES):c.1289-9C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2937940	NM_001927.4(DES):c.871G>A (p.Glu291Lys)	DES (E290K +2 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2937905	NM_001927.4(DES):c.249C>A (p.Tyr83Ter)	DES (Y83*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 2937279	NM_001927.4(DES):c.1023+10T>C	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2937009	NM_001927.4(DES):c.736-3C>A	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2936936	NM_001927.4(DES):c.480G>A (p.Arg160=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2936761	NM_001927.4(DES):c.466GAG[2] (p.Glu158del)	DES (E158del)	Microsatellite (inframe_deletion)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2936690	NM_001927.4(DES):c.742C>A (p.Arg248Ser)	DES (R247S +1 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2936331	NM_001927.4(DES):c.640-3C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2936180	NM_001927.4(DES):c.219G>A (p.Arg73=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2936169	NM_001927.4(DES):c.354C>G (p.Arg118=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2935442	NM_001927.4(DES):c.735+15C>T	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2935423	NM_001927.4(DES):c.1093G>C (p.Asp365His)	DES (D275H +4 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2935291	NM_001927.4(DES):c.309C>T (p.Thr103=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2935196	NM_001927.4(DES):c.232C>T (p.Arg78Cys)	DES (R78C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2935005	NM_001927.4(DES):c.240C>T (p.Pro80=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2934583	NM_001927.4(DES):c.1348A>G (p.Thr450Ala)	DES (T306A +5 more)	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 2933921	NM_001927.4(DES):c.312G>T (p.Thr104=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2933810	NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)	DES	Indel (synonymous variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2932504	NM_001927.4(DES):c.639+16T>C	DES	Single nucleotide variant (intron variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2932136	NM_001927.4(DES):c.246C>G (p.Ser82=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2931582	NM_001927.4(DES):c.1372-2A>G	DES	Single nucleotide variant (splice acceptor variant +1 more)	Desmin-related myofibrillar myopathy	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	GUncertain significance
Select item 2931410	NM_001927.4(DES):c.512A>C (p.Asn171Thr)	DES (N171T)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2931176	NM_001927.4(DES):c.694C>G (p.Leu232Val)	DES (L232V +1 more)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2931157	NM_001927.4(DES):c.179C>T (p.Ser60Leu)	DES (S60L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2930604	NM_001927.4(DES):c.678G>A (p.Glu226=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy	GLikely benign

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