ClinVar for Gene (Select 4747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376740	NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter)	NEFL (E453*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1F	GPathogenic
Select item 3371242	NM_006158.5(NEFL):c.1339G>T (p.Val447Phe)	NEFL (V447F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368912	NM_006158.5(NEFL):c.836G>A (p.Trp279Ter)	NEFL (W279*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3367697	NM_006158.5(NEFL):c.55G>C (p.Val19Leu)	NEFL (V19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342156	NM_006158.5(NEFL):c.313A>T (p.Ile105Phe)	NEFL (I105F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299166	NM_006158.5(NEFL):c.116C>G (p.Ala39Gly)	NEFL (A39G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299165	NM_006158.5(NEFL):c.77T>A (p.Ile26Asn)	NEFL (I26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299164	NM_006158.5(NEFL):c.1412C>T (p.Pro471Leu)	NEFL (P471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299163	NM_006158.5(NEFL):c.1535G>A (p.Gly512Asp)	NEFL (G512D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299161	NM_006158.5(NEFL):c.613G>A (p.Ala205Thr)	NEFL (A205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253098	NM_006158.5(NEFL):c.610C>T (p.Leu204Phe)	NEFL (L204F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245507	NC_000008.10:g.(?_24810323)_(24814029_?)dup	NEFL	Duplication	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 3191199	NM_006158.5(NEFL):c.892G>A (p.Val298Met)	NEFL (V298M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191195	NM_006158.5(NEFL):c.843G>T (p.Lys281Asn)	NEFL (K281N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191177	NM_006158.5(NEFL):c.650T>G (p.Met217Arg)	NEFL (M217R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191153	NM_006158.5(NEFL):c.328G>A (p.Glu110Lys)	NEFL (E110K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191129	NM_006158.5(NEFL):c.1504T>A (p.Ser502Thr)	NEFL (S502T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191122	NM_006158.5(NEFL):c.1483G>A (p.Glu495Lys)	NEFL (E495K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3054513	NM_006158.5(NEFL):c.504G>A (p.Glu168=)	NEFL	Single nucleotide variant (synonymous variant)	NEFL-related disorder	GLikely benign
Select item 3054121	NM_006158.5(NEFL):c.228A>G (p.Val76=)	NEFL	Single nucleotide variant (synonymous variant)	NEFL-related disorder	GLikely benign
Select item 3053268	NM_006158.5(NEFL):c.627C>T (p.Leu209=)	NEFL	Single nucleotide variant (synonymous variant)	NEFL-related disorder	GLikely benign
Select item 3050755	NM_006158.5(NEFL):c.84C>T (p.Ser28=)	NEFL	Single nucleotide variant (synonymous variant)	NEFL-related disorder	GLikely benign
Select item 3036763	NM_006158.5(NEFL):c.282C>T (p.Leu94=)	NEFL	Single nucleotide variant (synonymous variant)	NEFL-related disorder	GLikely benign
Select item 3022774	NM_006158.5(NEFL):c.864C>A (p.Thr288=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 3022773	NM_006158.5(NEFL):c.865_871del (p.Glu289fs)	NEFL (E289fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 3022552	NM_006158.5(NEFL):c.636C>T (p.Arg212=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 3014875	NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)	NEFL (Y10S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 3005638	NM_006158.5(NEFL):c.1365G>A (p.Glu455=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2999150	NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)	LOC126860330, NEFL (D349E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2999149	NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)	LOC126860330, NEFL (E355D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2996572	NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)	NEFL (E181A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2983213	NM_006158.5(NEFL):c.194T>G (p.Met65Arg)	NEFL (M65R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2968936	NM_006158.5(NEFL):c.1080C>A (p.Thr360=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2959999	NM_006158.5(NEFL):c.1169+20G>T	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2956992	NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)	NEFL (L122R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2919136	NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)	NEFL (R37C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2916833	NM_006158.5(NEFL):c.331C>G (p.Leu111Val)	NEFL (L111V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2914486	NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)	NEFL (D200N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2914346	NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)	NEFL (A505V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2907081	NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)	NEFL (A491P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2904396	NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)	NEFL (Y178C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2903166	NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)	NEFL (G32R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2899140	NM_006158.5(NEFL):c.287A>T (p.Asp96Val)	NEFL (D96V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2898300	NM_006158.5(NEFL):c.48G>C (p.Arg16=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2898299	NM_006158.5(NEFL):c.54C>T (p.Tyr18=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2898298	NM_006158.5(NEFL):c.114A>T (p.Ser38=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2895389	NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)	NEFL (K281E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2894403	NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)	NEFL (S255P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2893770	NM_006158.5(NEFL):c.639C>T (p.Ile213=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892182	NM_006158.5(NEFL):c.108A>G (p.Ala36=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892181	NM_006158.5(NEFL):c.594C>G (p.Gly198=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892180	NM_006158.5(NEFL):c.609G>T (p.Ala203=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892179	NM_006158.5(NEFL):c.615T>C (p.Ala205=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2891546	NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)	NEFL (T250P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2890178	NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)	NEFL (R30S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2884862	NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)	NEFL (E509K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2867112	NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)	NEFL (Q141P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2860579	NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)	NEFL (W279L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2853722	NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)	NEFL (Q340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2850197	NM_006158.5(NEFL):c.993G>A (p.Lys331=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2841494	NM_006158.5(NEFL):c.210C>T (p.Asn70=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2838458	NM_006158.5(NEFL):c.1240dup (p.Gln414fs)	NEFL (Q414fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2835758	NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)	NEFL	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2832071	NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)	NEFL (E228K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2814830	NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)	NEFL (A533S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2806841	NM_006158.5(NEFL):c.1045-14T>C	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2805924	NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)	NEFL (R172C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2804039	NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)	LOC126860330, NEFL (Y389S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2797904	NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)	NEFL (E186Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2795210	NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)	NEFL (S416F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2789611	NM_006158.5(NEFL):c.1050G>A (p.Thr350=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2778816	NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)	NEFL (I79N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2777415	NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)	NEFL (R16W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2764364	NM_006158.5(NEFL):c.818T>C (p.Met273Thr)	NEFL (M273T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2761390	NM_006158.5(NEFL):c.1026C>A (p.Ala342=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2754954	NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)	LOC126860330, NEFL (I386V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2742630	NM_006158.5(NEFL):c.1236C>T (p.Tyr412=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2735144	NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)	NEFL (L311P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2735143	NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)	LOC126860330, NEFL (I384F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2732951	NM_006158.5(NEFL):c.1489+17C>G	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2732508	NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)	LOC126860330, NEFL (A366V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2728116	NM_006158.5(NEFL):c.1489+16A>T	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2726040	NM_006158.5(NEFL):c.288C>T (p.Asp96=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2724075	NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)	NEFL (E168G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2721350	NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)	NEFL (E526K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2709445	NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)	NEFL (R196S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2704396	NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)	NEFL (R323Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2700596	NM_006158.5(NEFL):c.1332del (p.Ser445fs)	NEFL (S445fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2689574	NM_006158.5(NEFL):c.370G>A (p.Val124Met)	NEFL (V124M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2683878	NM_006158.5(NEFL):c.760del (p.Leu254fs)	NEFL (L254fs)	Deletion (frameshift variant)	Auditory neuropathy	GPathogenic
Select item 2683004	NM_006158.5(NEFL):c.1438G>A (p.Glu480Lys)	NEFL (E480K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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