"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66682	NM_006158.5(NEFL):c.1590T>G (p.Val530=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 66681	NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)	NEFL (E527del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2E +1 more	GBenign
Select item 66680	NM_006158.5(NEFL):c.1576dup (p.Glu526fs)	NEFL (E526fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 66679	NM_006158.5(NEFL):c.1560C>A (p.Thr520=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GBenign
Select item 66678	NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)	NEFL (A498T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 66677	NM_006158.5(NEFL):c.1458C>T (p.Ala486=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GBenign/Likely benign
Select item 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 66675	NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter)	NEFL (Y443*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 66673	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 66672	NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys)	NEFL (E397K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66671	NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	NEFL (E396K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GPathogenic
Select item 66670	NM_006158.5(NEFL):c.1045-19dup	LOC126860330, NEFL	Duplication (intron variant)	not provided	Gnot provided
Select item 66701	NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)	NEFL (L333P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 14028	NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)	NEFL (Q332P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 66699	NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del)	NEFL	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66700	NM_006158.5(NEFL):c.969G>T (p.Arg323=)	NEFL	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66698	NM_006158.5(NEFL):c.803T>C (p.Leu268Pro)	NEFL (L268P)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GPathogenic
Select item 66697	NM_006158.5(NEFL):c.720C>T (p.Tyr240=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66696	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41237	NM_006158.5(NEFL):c.446C>T (p.Ala149Val)	NEFL (A149V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 66692	NM_006158.5(NEFL):c.423G>A (p.Gln141=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 14034	NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)	NEFL (E140*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1F	GPathogenic
Select item 41236	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL (N98S)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +6 more	GPathogenic/Likely pathogenic
Select item 14033	NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)	NEFL (L94P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 66691	NM_006158.5(NEFL):c.279G>A (p.Gln93=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GBenign/Likely benign
Select item 66690	NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)	NEFL (E90K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66686	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	NEFL (V76A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 66685	NM_006158.5(NEFL):c.227T>A (p.Val76Glu)	NEFL (V76E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66683	NM_006158.5(NEFL):c.189G>A (p.Ser63=)	NEFL	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66674	NM_006158.5(NEFL):c.123C>T (p.Ser41=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 41239	NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)	NEFL (P22R)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 41238	NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)	NEFL (P22T)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 14029	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	NEFL (P22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic/Likely pathogenic
Select item 66694	NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)	NEFL (T21fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 66693	NM_006158.5(NEFL):c.45G>A (p.Lys15=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +1 more	GConflicting classifications of pathogenicity
Select item 66689	NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)	NEFL (P8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 66688	NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	NEFL (P8R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 66687	NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)	NEFL (P8Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GPathogenic
Select item 14030	NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)	NEFL (P8R)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GPathogenic
Select item 66684	NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)	NEFL (E7K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 66668	NM_006158.5(NEFL):c.-44_-42delinsATG	NEFL	Indel (5 prime UTR variant)	not provided	Gnot provided
Select item 66669	NM_006158.5(NEFL):c.-54TC[3]	NEFL	Microsatellite (5 prime UTR variant)	not provided	Gnot provided

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Items: 43