ClinVar for Gene (Select 4744) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191057	NM_021076.4(NEFH):c.740G>A (p.Gly247Asp)	NEFH (G247D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191035	NM_021076.4(NEFH):c.47C>A (p.Ala16Glu)	NEFH (A16E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3191002	NM_021076.4(NEFH):c.2716C>T (p.Pro906Ser)	NEFH (P906S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190999	NM_021076.4(NEFH):c.2639C>T (p.Pro880Leu)	NEFH (P880L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190990	NM_021076.4(NEFH):c.2311A>G (p.Lys771Glu)	NEFH (K771E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190985	NM_021076.4(NEFH):c.2171C>G (p.Ser724Cys)	NEFH (S724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190958	NM_021076.4(NEFH):c.1729G>A (p.Glu577Lys)	NEFH (E577K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190932	NM_021076.4(NEFH):c.1232G>A (p.Cys411Tyr)	NEFH (C411Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055625	NM_021076.4(NEFH):c.507G>C (p.Leu169=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related condition	GLikely benign
Select item 3051945	NM_021076.4(NEFH):c.1083+7A>G	NEFH	Single nucleotide variant (intron variant)	NEFH-related condition	GLikely benign
Select item 3047499	NM_021076.4(NEFH):c.378G>A (p.Glu126=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related condition	GLikely benign
Select item 3045854	NM_021076.4(NEFH):c.790A>G (p.Lys264Glu)	NEFH (K264E)	Single nucleotide variant (missense variant)	NEFH-related condition	GUncertain significance
Select item 3039610	NM_021076.4(NEFH):c.2193G>A (p.Lys731=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related condition	GLikely benign
Select item 3030214	NM_021076.4(NEFH):c.505C>T (p.Leu169=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related condition	GLikely benign
Select item 3025851	NM_021076.4(NEFH):c.2115T>C (p.Pro705=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024689	NM_021076.4(NEFH):c.2157T>A (p.Pro719=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024568	NM_021076.4(NEFH):c.2148A>C (p.Ala716=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023048	NM_021076.4(NEFH):c.214T>G (p.Ser72Ala)	NEFH (S72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014996	NM_021076.4(NEFH):c.753G>T (p.Ala251=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014551	NM_021076.4(NEFH):c.249G>A (p.Gly83=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011584	NM_021076.4(NEFH):c.2046C>T (p.Ser682=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011388	NM_021076.4(NEFH):c.1697C>G (p.Ser566Cys)	NEFH (S566C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010213	NM_021076.4(NEFH):c.489G>C (p.Ala163=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009900	NM_021076.4(NEFH):c.897A>C (p.Arg299=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009354	NM_021076.4(NEFH):c.595G>A (p.Ala199Thr)	NEFH (A199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008895	NM_021076.4(NEFH):c.2028C>A (p.Ser676=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007859	NM_021076.4(NEFH):c.434T>C (p.Leu145Pro)	NEFH (L145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007725	NM_021076.4(NEFH):c.1250C>G (p.Pro417Arg)	NEFH (P417R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006847	NM_021076.4(NEFH):c.2589G>A (p.Glu863=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005829	NM_021076.4(NEFH):c.1595C>T (p.Ser532Phe)	NEFH (S532F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004168	NM_021076.4(NEFH):c.42G>A (p.Pro14=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003411	NM_021076.4(NEFH):c.2561_2562del (p.Glu854fs)	NEFH (E854fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3003257	NM_021076.4(NEFH):c.749C>T (p.Ala250Val)	NEFH (A250V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002589	NM_021076.4(NEFH):c.924A>G (p.Thr308=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999991	NM_021076.4(NEFH):c.1262C>T (p.Ser421Leu)	NEFH (S421L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999983	NM_021076.4(NEFH):c.2622G>A (p.Val874=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999379	NM_021076.4(NEFH):c.2057C>T (p.Ala686Val)	NEFH (A686V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999265	NM_021076.4(NEFH):c.161C>T (p.Ser54Phe)	NEFH (S54F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997687	NM_021076.4(NEFH):c.2050G>T (p.Val684Leu)	NEFH (V684L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995789	NM_021076.4(NEFH):c.117C>A (p.Ser39=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995648	NM_021076.4(NEFH):c.379_386dup (p.Ala131fs)	NEFH (A131fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2994818	NM_021076.4(NEFH):c.2885C>T (p.Ala962Val)	NEFH (A962V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993842	NM_021076.4(NEFH):c.450C>G (p.Val150=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993783	NM_021076.4(NEFH):c.1153T>C (p.Tyr385His)	NEFH (Y385H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993313	NM_021076.4(NEFH):c.989C>T (p.Thr330Ile)	NEFH (T330I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991754	NM_021076.4(NEFH):c.2907C>T (p.Pro969=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990276	NM_021076.4(NEFH):c.138C>T (p.Gly46=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related condition +1 more	GLikely benign
Select item 2988352	NM_021076.4(NEFH):c.2629A>G (p.Lys877Glu)	NEFH (K877E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987203	NM_021076.4(NEFH):c.681C>G (p.Cys227Trp)	NEFH (C227W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986892	NM_021076.4(NEFH):c.473_490dup (p.Ala163_Arg164insLeuArgLeuGlyAlaAla)	NEFH	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2986739	NM_021076.4(NEFH):c.1083+11G>A	NEFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986626	NM_021076.4(NEFH):c.2432A>G (p.Glu811Gly)	NEFH (E811G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985106	NM_021076.4(NEFH):c.883+17G>T	NEFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984858	NM_021076.4(NEFH):c.287G>C (p.Ser96Thr)	NEFH (S96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983908	NM_021076.4(NEFH):c.957T>G (p.Thr319=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983047	NM_021076.4(NEFH):c.883+19G>C	NEFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982496	NM_021076.4(NEFH):c.2034G>A (p.Glu678=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979161	NM_021076.4(NEFH):c.1150G>A (p.Glu384Lys)	NEFH (E384K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978115	NM_021076.4(NEFH):c.2170T>C (p.Ser724Pro)	NEFH (S724P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977706	NM_021076.4(NEFH):c.1924A>G (p.Thr642Ala)	NEFH (T642A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976160	NM_021076.4(NEFH):c.271G>C (p.Val91Leu)	NEFH (V91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973853	NM_021076.4(NEFH):c.1201G>A (p.Ala401Thr)	NEFH (A401T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2970792	NM_021076.4(NEFH):c.469G>C (p.Val157Leu)	NEFH (V157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969296	NM_021076.4(NEFH):c.72C>A (p.Leu24=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969233	NM_021076.4(NEFH):c.33G>T (p.Leu11=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969195	NM_021076.4(NEFH):c.2213C>T (p.Ser738Phe)	NEFH (S738F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963095	NM_021076.4(NEFH):c.252G>A (p.Pro84=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961427	NM_021076.4(NEFH):c.291G>A (p.Glu97=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959897	NM_021076.4(NEFH):c.813G>T (p.Leu271=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958208	NM_021076.4(NEFH):c.2290C>T (p.Pro764Ser)	NEFH (P764S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957722	NM_021076.4(NEFH):c.2490C>T (p.Pro830=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957595	NM_021076.4(NEFH):c.658G>A (p.Ala220Thr)	NEFH (A220T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957103	NM_021076.4(NEFH):c.122C>T (p.Ala41Val)	NEFH (A41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956436	NM_021076.4(NEFH):c.1656T>C (p.Ser552=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956352	NM_021076.4(NEFH):c.717C>T (p.Gly239=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2916679	NM_021076.4(NEFH):c.2657A>G (p.Lys886Arg)	NEFH (K886R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912189	NM_021076.4(NEFH):c.325G>A (p.Ala109Thr)	NEFH (A109T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909038	NM_021076.4(NEFH):c.1300A>G (p.Thr434Ala)	NEFH (T434A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907732	NM_021076.4(NEFH):c.529G>A (p.Asp177Asn)	NEFH (D177N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906765	NM_021076.4(NEFH):c.942G>A (p.Ala314=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903696	NM_021076.4(NEFH):c.935G>A (p.Arg312His)	NEFH (R312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903530	NM_021076.4(NEFH):c.601G>T (p.Ala201Ser)	NEFH (A201S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901713	NM_021076.4(NEFH):c.172G>T (p.Val58Leu)	NEFH (V58L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901159	NM_021076.4(NEFH):c.369C>T (p.Arg123=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900519	NM_021076.4(NEFH):c.1986C>T (p.Ser662=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900376	NM_021076.4(NEFH):c.471G>A (p.Val157=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895367	NM_021076.4(NEFH):c.659C>T (p.Ala220Val)	NEFH (A220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2892016	NM_021076.4(NEFH):c.675G>A (p.Glu225=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890838	NM_021076.4(NEFH):c.425T>C (p.Met142Thr)	NEFH (M142T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2890646	NM_021076.4(NEFH):c.714G>A (p.Val238=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880416	NM_021076.4(NEFH):c.575G>T (p.Arg192Leu)	NEFH (R192L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880141	NM_021076.4(NEFH):c.298C>G (p.Gln100Glu)	NEFH (Q100E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877841	NM_021076.4(NEFH):c.106G>A (p.Gly36Arg)	NEFH (G36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876956	NM_021076.4(NEFH):c.1954G>C (p.Ala652Pro)	NEFH (A652P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876782	NM_021076.4(NEFH):c.1750G>T (p.Ala584Ser)	NEFH (A584S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876439	NM_021076.4(NEFH):c.155G>A (p.Arg52Gln)	NEFH (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875730	NM_021076.4(NEFH):c.1339G>A (p.Val447Met)	NEFH (V447M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873789	NM_021076.4(NEFH):c.2081C>T (p.Ala694Val)	NEFH (A694V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871690	NM_021076.4(NEFH):c.1734C>T (p.Val578=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871027	NM_021076.4(NEFH):c.2994C>A (p.Ser998=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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