ClinVar for MedGen (Select 334337) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585606	NM_006158.5(NEFL):c.311T>G (p.Phe104Cys)	NEFL (F104C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 1412326	NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)	NEFL (T88P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GConflicting classifications of pathogenicity
Select item 1333320	NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	NEFL (Y6*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1F	GPathogenic
Select item 1048599	NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter)	NEFL (Y18*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1F	GLikely pathogenic
Select item 932021	NM_006158.5(NEFL):c.73C>A (p.His25Asn)	NEFL (H25N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 930434	NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)	NEFL (D343del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 911828	NM_006158.4(NEFL):c.-258C>G	NEFL	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 911788	NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)	NEFL (P470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 911716	NM_006158.5(NEFL):c.*1101G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 911715	NM_006158.5(NEFL):c.*1153T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 910603	NM_006158.4(NEFL):c.-248C>G	NEFL	Single nucleotide variant	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 910602	NM_006158.4(NEFL):c.-183C>G	NEFL	Single nucleotide variant	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 910601	NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)	NEFL (Q113P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 910484	NM_006158.5(NEFL):c.*1293A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 909677	NM_006158.5(NEFL):c.339G>C (p.Gln113His)	NEFL (Q113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 909676	NM_006158.5(NEFL):c.516C>T (p.Arg172=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909675	NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)	NEFL (E180D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909674	NM_006158.5(NEFL):c.558G>A (p.Glu186=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GLikely benign
Select item 909673	NM_006158.5(NEFL):c.564C>G (p.Ala188=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +1 more	GConflicting classifications of pathogenicity
Select item 909615	NM_006158.5(NEFL):c.*436T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GLikely benign
Select item 909557	NM_006158.5(NEFL):c.*1383C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909556	NM_006158.5(NEFL):c.*1464A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 908822	NM_006158.5(NEFL):c.717G>A (p.Gln239=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 908821	NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)	NEFL (F439I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GConflicting classifications of pathogenicity
Select item 670555	NM_006158.4(NEFL):c.-176C>A	NEFL	Single nucleotide variant	not provided +1 more	GBenign
Select item 447763	NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)	NEFL (Y265D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +5 more	GConflicting classifications of pathogenicity
Select item 444742	NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)	NEFL (R399*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 362648	NM_006158.5(NEFL):c.-68T>A	NEFL	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362647	NM_006158.5(NEFL):c.141G>A (p.Val47=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362646	NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +2 more	GBenign/Likely benign
Select item 362645	NM_006158.5(NEFL):c.*51A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362644	NM_006158.5(NEFL):c.*82T>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362643	NM_006158.5(NEFL):c.*101A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362642	NM_006158.5(NEFL):c.*171C>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362640	NM_006158.5(NEFL):c.*244A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362635	NM_006158.5(NEFL):c.*486T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362633	NM_006158.5(NEFL):c.*577T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362631	NM_006158.5(NEFL):c.*856T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362630	NM_006158.5(NEFL):c.*878A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362623	NM_006158.5(NEFL):c.*1342A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362621	NM_006158.5(NEFL):c.*1344G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362620	NM_006158.5(NEFL):c.*1349T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362619	NM_006158.5(NEFL):c.*1482C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362616	NM_006158.5(NEFL):c.*1744T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362615	NM_006158.5(NEFL):c.*1806T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 234913	NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)	NEFL (L329P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +3 more	GConflicting classifications of pathogenicity
Select item 220209	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	NEFL (Q537R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 215429	NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +5 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	not provided +5 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 66686	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	NEFL (V76A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GBenign/Likely 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 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 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 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 41236	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL (N98S)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 29803	NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)	NEFL (E210*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1F	GPathogenic
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 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 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

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Items: 62