ClinVar for Gene (Select 10290) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379427	NM_005876.5(SPEG):c.5036A>G (p.Glu1679Gly)	SPEG (E1679G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379425	NM_005876.5(SPEG):c.2135T>C (p.Val712Ala)	SPEG (V712A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366614	NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)	SPEG (V1454fs)	Deletion (frameshift variant)	Myopathy, centronuclear, 5	GPathogenic
Select item 3365537	NM_005876.5(SPEG):c.392C>G (p.Ser131Ter)	SPEG (S131*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3360088	NM_005876.5(SPEG):c.7216G>A (p.Val2406Ile)	SPEG (V2406I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351975	NM_005876.5(SPEG):c.5685G>A (p.Glu1895=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3350331	NM_005876.5(SPEG):c.2874G>A (p.Glu958=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3346038	NM_005876.5(SPEG):c.9371C>T (p.Thr3124Met)	ASIC4-AS1, SPEG (T3124M)	Single nucleotide variant (missense variant)	SPEG-related disorder	GUncertain significance
Select item 3345410	NM_005876.5(SPEG):c.8937T>G (p.Val2979=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3345185	NM_005876.5(SPEG):c.6123_6136dup (p.Pro2046fs)	ASIC4-AS1, SPEG (P2046fs)	Duplication (frameshift variant)	SPEG-related disorder	GLikely pathogenic
Select item 3341722	NM_005876.5(SPEG):c.8171T>G (p.Val2724Gly)	ASIC4-AS1, SPEG (V2724G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337628	NM_005876.5(SPEG):c.2584G>C (p.Asp862His)	SPEG (D13H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3322133	NM_005876.5(SPEG):c.4822G>C (p.Gly1608Arg)	SPEG (G1608R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322132	NM_005876.5(SPEG):c.6281G>C (p.Ser2094Thr)	ASIC4-AS1, SPEG (S2094T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322131	NM_005876.5(SPEG):c.1451G>A (p.Arg484His)	SPEG (R484H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322130	NM_005876.5(SPEG):c.1826G>T (p.Ser609Ile)	SPEG (S609I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322129	NM_005876.5(SPEG):c.7760A>G (p.His2587Arg)	ASIC4-AS1, SPEG (H2587R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322128	NM_005876.5(SPEG):c.902C>G (p.Pro301Arg)	SPEG (P301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322127	NM_005876.5(SPEG):c.5420T>C (p.Met1807Thr)	SPEG (M1807T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322126	NM_005876.5(SPEG):c.8654C>G (p.Ala2885Gly)	ASIC4-AS1, SPEG (A2885G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322125	NM_005876.5(SPEG):c.7904G>A (p.Cys2635Tyr)	ASIC4-AS1, SPEG (C2635Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322124	NM_005876.5(SPEG):c.4277G>A (p.Arg1426Gln)	SPEG (R1426Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322123	NM_005876.5(SPEG):c.427G>C (p.Gly143Arg)	SPEG (G143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322122	NM_005876.5(SPEG):c.7252C>T (p.Arg2418Trp)	ASIC4-AS1, SPEG (R2418W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322121	NM_005876.5(SPEG):c.1393G>A (p.Glu465Lys)	SPEG (E465K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322120	NM_005876.5(SPEG):c.6299G>C (p.Arg2100Pro)	ASIC4-AS1, SPEG (R2100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322119	NM_005876.5(SPEG):c.3119C>T (p.Thr1040Ile)	SPEG (T1040I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322118	NM_005876.5(SPEG):c.905C>T (p.Pro302Leu)	SPEG (P302L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322117	NM_005876.5(SPEG):c.2395G>C (p.Glu799Gln)	SPEG (E799Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322116	NM_005876.5(SPEG):c.6149C>T (p.Ala2050Val)	ASIC4-AS1, SPEG (A2050V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322115	NM_005876.5(SPEG):c.9167G>A (p.Arg3056Gln)	ASIC4-AS1, SPEG (R3056Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322114	NM_005876.5(SPEG):c.2306T>C (p.Leu769Pro)	SPEG (L769P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322113	NM_005876.5(SPEG):c.304G>A (p.Asp102Asn)	SPEG (D102N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322112	NM_005876.5(SPEG):c.6416G>A (p.Arg2139Gln)	ASIC4-AS1, SPEG (R2139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257554	NM_005876.5(SPEG):c.2312G>C (p.Arg771Pro)	SPEG (R771P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251499	NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)	ASIC4-AS1, SPEG (A2207fs)	Duplication (frameshift variant)	Myopathy, centronuclear, 5	GPathogenic
Select item 3247399	NC_000002.11:g.(?_220283185)_(220314013_?)dup	DES, SPEG	Duplication	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3237517	NM_005876.5(SPEG):c.9004G>T (p.Glu3002Ter)	ASIC4-AS1, SPEG (E3002*)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 5	GLikely pathogenic
Select item 3237482	NM_005876.5(SPEG):c.3517A>C (p.Ile1173Leu)	SPEG (I1173L)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 5	GUncertain significance
Select item 3233241	NM_005876.5(SPEG):c.1071_1074dup (p.Lys359fs)	SPEG (K359fs)	Duplication (frameshift variant)	SPEG-related congenital myopathy	GLikely pathogenic
Select item 3168904	NM_005876.5(SPEG):c.9746G>A (p.Arg3249Gln)	ASIC4-AS1, SPEG (R3249Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168903	NM_005876.5(SPEG):c.9563C>T (p.Ser3188Phe)	ASIC4-AS1, SPEG (S3188F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168900	NM_005876.5(SPEG):c.8687C>T (p.Ser2896Phe)	ASIC4-AS1, SPEG (S2896F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168899	NM_005876.5(SPEG):c.8626G>A (p.Val2876Ile)	ASIC4-AS1, SPEG (V2876I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168898	NM_005876.5(SPEG):c.8141G>A (p.Arg2714Gln)	ASIC4-AS1, SPEG (R2714Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168897	NM_005876.5(SPEG):c.7489G>C (p.Glu2497Gln)	ASIC4-AS1, SPEG (E2497Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168895	NM_005876.5(SPEG):c.7421G>C (p.Ser2474Thr)	ASIC4-AS1, SPEG (S2474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168894	NM_005876.5(SPEG):c.7420A>C (p.Ser2474Arg)	ASIC4-AS1, SPEG (S2474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168893	NM_005876.5(SPEG):c.7247G>A (p.Arg2416Gln)	ASIC4-AS1, SPEG (R2416Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168891	NM_005876.5(SPEG):c.6716C>T (p.Ala2239Val)	ASIC4-AS1, SPEG (A2239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168890	NM_005876.5(SPEG):c.6700G>A (p.Ala2234Thr)	ASIC4-AS1, SPEG (A2234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168889	NM_005876.5(SPEG):c.6224T>G (p.Leu2075Arg)	ASIC4-AS1, SPEG (L2075R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168888	NM_005876.5(SPEG):c.6092G>T (p.Gly2031Val)	ASIC4-AS1, SPEG (G2031V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168887	NM_005876.5(SPEG):c.5899G>T (p.Ala1967Ser)	ASIC4-AS1, SPEG (A1967S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168886	NM_005876.5(SPEG):c.5671C>T (p.Arg1891Cys)	ASIC4-AS1, SPEG (R1891C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168885	NM_005876.5(SPEG):c.5591G>A (p.Ser1864Asn)	ASIC4-AS1, SPEG (S1864N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168883	NM_005876.5(SPEG):c.5128C>G (p.Leu1710Val)	SPEG (L1710V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168879	NM_005876.5(SPEG):c.3617T>C (p.Met1206Thr)	SPEG (M1206T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168877	NM_005876.5(SPEG):c.3016C>T (p.Arg1006Cys)	SPEG (R1006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168876	NM_005876.5(SPEG):c.2627T>C (p.Met876Thr)	SPEG (M27T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168874	NM_005876.5(SPEG):c.2287C>A (p.Arg763Ser)	SPEG (R763S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168872	NM_005876.5(SPEG):c.178G>C (p.Val60Leu)	SPEG (V60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168871	NM_005876.5(SPEG):c.1789C>T (p.Pro597Ser)	SPEG (P597S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168870	NM_005876.5(SPEG):c.1559C>A (p.Thr520Lys)	SPEG (T520K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168869	NM_005876.5(SPEG):c.1544A>C (p.Glu515Ala)	SPEG (E515A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168868	NM_005876.5(SPEG):c.1412A>G (p.Gln471Arg)	SPEG (Q471R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168867	NM_005876.5(SPEG):c.1274G>T (p.Arg425Leu)	SPEG (R425L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168866	NM_005876.5(SPEG):c.1261C>G (p.Pro421Ala)	SPEG (P421A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168865	NM_005876.5(SPEG):c.1135G>C (p.Glu379Gln)	SPEG (E379Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3055860	NM_005876.5(SPEG):c.3438C>T (p.His1146=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3052745	NM_005876.5(SPEG):c.3063C>T (p.Gly1021=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3041298	NM_005876.5(SPEG):c.2043G>C (p.Gly681=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3032424	NM_005876.5(SPEG):c.*3G>A	ASIC4-AS1, SPEG	Single nucleotide variant (3 prime UTR variant)	SPEG-related disorder	GLikely benign
Select item 3029923	NM_005876.5(SPEG):c.3171C>T (p.Thr1057=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3029515	NM_005876.5(SPEG):c.3019C>T (p.Leu1007=)	SPEG	Single nucleotide variant (synonymous variant)	SPEG-related disorder	GLikely benign
Select item 3026286	NM_005876.5(SPEG):c.3705C>T (p.Arg1235=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023047	NM_005876.5(SPEG):c.388+17G>C	SPEG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022688	NM_005876.5(SPEG):c.6474C>T (p.Ala2158=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020886	NM_005876.5(SPEG):c.7671G>A (p.Gly2557=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015427	NM_005876.5(SPEG):c.7146G>A (p.Leu2382=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014316	NM_005876.5(SPEG):c.7323C>A (p.Gly2441=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013227	NM_005876.5(SPEG):c.9240C>T (p.His3080=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013225	NM_005876.5(SPEG):c.8646G>A (p.Pro2882=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012806	NM_005876.5(SPEG):c.4148-17C>G	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012262	NM_005876.5(SPEG):c.4515G>A (p.Ala1505=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011849	NM_005876.5(SPEG):c.6900C>G (p.Pro2300=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011719	NM_005876.5(SPEG):c.5064A>G (p.Lys1688=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011221	NM_005876.5(SPEG):c.5667G>A (p.Val1889=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009760	NM_005876.5(SPEG):c.9366G>A (p.Thr3122=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009561	NM_005876.5(SPEG):c.7379C>T (p.Thr2460Ile)	ASIC4-AS1, SPEG (T2460I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008793	NM_005876.5(SPEG):c.3491+11G>A	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006044	NM_005876.5(SPEG):c.9611+18C>A	ASIC4-AS1, SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005730	NM_005876.5(SPEG):c.3033A>G (p.Ala1011=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004306	NM_005876.5(SPEG):c.2617-11A>G	SPEG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003413	NM_005876.5(SPEG):c.7218C>G (p.Val2406=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003412	NM_005876.5(SPEG):c.7507C>T (p.Arg2503Cys)	ASIC4-AS1, SPEG (R2503C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002710	NM_005876.5(SPEG):c.6903G>A (p.Pro2301=)	ASIC4-AS1, SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000509	NM_005876.5(SPEG):c.252C>T (p.Pro84=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999561	NM_005876.5(SPEG):c.438C>T (p.Arg146=)	SPEG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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