"Ambry Genetics"[submitter] AND "NEFL"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220209	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	NEFL (Q537R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1430698	NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)	NEFL (G532D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 234890	NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)	NEFL (V530F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 624316	NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)	NEFL (K529E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1775603	NM_006158.5(NEFL):c.1576G>C (p.Glu526Gln)	NEFL (E526Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775511	NM_006158.5(NEFL):c.1571A>G (p.Glu524Gly)	NEFL (E524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 949731	NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)	NEFL (T520I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 947307	NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)	NEFL (E510del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1773831	NM_006158.5(NEFL):c.1493C>T (p.Ala498Val)	NEFL (A498V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 533511	NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)	NEFL (E488K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384620	NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)	NEFL (K481del)	Deletion (inframe_deletion)	Inborn genetic diseases +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 215429	NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 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 1771318	NM_006158.5(NEFL):c.1382C>T (p.Ala461Val)	NEFL (A461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 234891	NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)	NEFL (I458T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1770936	NM_006158.5(NEFL):c.1366G>A (p.Glu456Lys)	NEFL (E456K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362646	NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)	NEFL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 155738	NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)	NEFL (P440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1769806	NM_006158.5(NEFL):c.1317C>A (p.Phe439Leu)	NEFL (F439L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908821	NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)	NEFL (F439I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1517481	NM_006158.5(NEFL):c.1310G>A (p.Arg437His)	NEFL (R437H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1769593	NM_006158.5(NEFL):c.1309C>G (p.Arg437Gly)	NEFL (R437G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1520471	NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)	NEFL (R437C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533517	NM_006158.5(NEFL):c.1287C>T (p.Thr429=)	NEFL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 511829	NM_006158.5(NEFL):c.1284G>A (p.Gln428=)	NEFL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1740594	NM_006158.5(NEFL):c.1175T>G (p.Leu392Arg)	NEFL (L392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1718346	NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)	LOC126860330, NEFL (E385Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536582	NM_006158.5(NEFL):c.1094T>C (p.Met365Thr)	LOC126860330, NEFL (M365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423616	NM_006158.5(NEFL):c.1054A>C (p.Asn352His)	LOC126860330, NEFL (N352H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1741332	NM_006158.5(NEFL):c.1015A>C (p.Lys339Gln)	NEFL (K339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782289	NM_006158.5(NEFL):c.1005G>C (p.Glu335Asp)	NEFL (E335D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768792	NM_006158.5(NEFL):c.997C>G (p.Leu333Val)	NEFL (L333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 220372	NM_006158.5(NEFL):c.968G>C (p.Arg323Pro)	NEFL (R323P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GConflicting classifications of pathogenicity
Select item 916900	NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)	NEFL (R323W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 994654	NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)	NEFL (N294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1397390	NM_006158.5(NEFL):c.874G>T (p.Ala292Ser)	NEFL (A292S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1764470	NM_006158.5(NEFL):c.872C>T (p.Ala291Val)	NEFL (A291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1057137	NM_006158.5(NEFL):c.868A>G (p.Ser290Gly)	NEFL (S290G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1763020	NM_006158.5(NEFL):c.834A>T (p.Glu278Asp)	NEFL (E278D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 569117	NM_006158.5(NEFL):c.755C>T (p.Pro252Leu)	NEFL (P252L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 646801	NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)	NEFL (D248A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1758450	NM_006158.5(NEFL):c.734T>C (p.Val245Ala)	NEFL (V245A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447762	NM_006158.5(NEFL):c.716A>G (p.Gln239Arg)	NEFL (Q239R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 412302	NM_006158.5(NEFL):c.688G>A (p.Glu230Lys)	NEFL (E230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364861	NM_006158.5(NEFL):c.682G>C (p.Glu228Gln)	NEFL (E228Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1754564	NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)	NEFL (S221F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 1750776	NM_006158.5(NEFL):c.596C>T (p.Ala199Val)	NEFL (A199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 386660	NM_006158.5(NEFL):c.584C>T (p.Ala195Val)	NEFL (A195V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 464927	NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)	NEFL (E194D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2229617	NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)	NEFL (E194G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 412299	NM_006158.5(NEFL):c.579G>A (p.Met193Ile)	NEFL (M193I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 2154340	NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)	NEFL (E165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1448078	NM_006158.5(NEFL):c.484G>A (p.Gly162Ser)	NEFL (G162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1369145	NM_006158.5(NEFL):c.377G>A (p.Arg126His)	NEFL (R126H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1734096	NM_006158.5(NEFL):c.370_372dup (p.Val124_Leu125insVal)	NEFL	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
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 464926	NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)	NEFL (Q113P)	Indel (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 910601	NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)	NEFL (Q113P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1730069	NM_006158.5(NEFL):c.330G>C (p.Glu110Asp)	NEFL (E110D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727448	NM_006158.5(NEFL):c.308G>T (p.Ser103Ile)	NEFL (S103I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1798618	NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)	NEFL (R100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533516	NM_006158.5(NEFL):c.270G>C (p.Glu90Asp)	NEFL (E90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1335707	NM_006158.5(NEFL):c.197C>T (p.Pro66Leu)	NEFL (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163020	NM_006158.5(NEFL):c.182C>T (p.Ser61Phe)	NEFL (S61F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 2327459	NM_006158.5(NEFL):c.163C>T (p.Arg55Cys)	NEFL (R55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773952	NM_006158.5(NEFL):c.149C>T (p.Ser50Leu)	NEFL (S50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260002	NM_006158.5(NEFL):c.139G>T (p.Val47Leu)	NEFL (V47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 916906	NM_006158.5(NEFL):c.86T>C (p.Val29Ala)	NEFL (V29A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 1764013	NM_006158.5(NEFL):c.85G>T (p.Val29Leu)	NEFL (V29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 569562	NM_006158.5(NEFL):c.67C>G (p.Arg23Gly)	NEFL (R23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 839156	NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)	NEFL (K15R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 66689	NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)	NEFL (P8L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GPathogenic
Select item 66688	NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	NEFL (P8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic

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Items: 77