NEFL[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 362617	NM_006158.5(NEFL):c.*1643G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 362618	NM_006158.5(NEFL):c.1609_1612del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	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 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 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 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 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 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 362622	NM_006158.5(NEFL):c.1340_1342del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
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 362624	NM_006158.5(NEFL):c.*1256G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 362625	NM_006158.5(NEFL):c.*1198G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 362626	NM_006158.5(NEFL):c.*1155T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
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 362627	NM_006158.5(NEFL):c.*1107C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
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 362628	NM_006158.5(NEFL):c.*1100C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 362629	NM_006158.5(NEFL):c.*883G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
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 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 362632	NM_006158.5(NEFL):c.*687G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	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 362634	NM_006158.5(NEFL):c.*565del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
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 362636	NM_006158.5(NEFL):c.*485A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
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 362637	NM_006158.5(NEFL):c.*426G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 362638	NM_006158.5(NEFL):c.407_408del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362639	NM_006158.5(NEFL):c.*378A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
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 362641	NM_006158.5(NEFL):c.*235A>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
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 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 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 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 425439	NM_006158.5(NEFL):c.*6del	NEFL	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 916809	NM_006158.5(NEFL):c.*2C>A	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1038827	NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)	NEFL (D543N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1423140	NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)	NEFL (K540E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 843501	NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)	NEFL (A538T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 916902	NM_006158.5(NEFL):c.1611A>G (p.Gln537=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
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 1105722	NM_006158.5(NEFL):c.1608A>G (p.Glu536=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
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 1014315	NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)	NEFL (A533P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1430698	NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)	NEFL (G532D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 66682	NM_006158.5(NEFL):c.1590T>G (p.Val530=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
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 1309107	NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys)	NEFL (E527K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743961	NM_006158.5(NEFL):c.1578G>A (p.Glu526=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66680	NM_006158.5(NEFL):c.1576dup (p.Glu526fs)	NEFL (E526fs)	Duplication (frameshift variant)	not provided	Gnot provided
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 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 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 949731	NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)	NEFL (T520I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1420782	NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser)	NEFL (T520S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 994653	NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp)	NEFL (E518D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026551	NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del)	NEFL (E516del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 652069	NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg)	NEFL (G514R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 855560	NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)	NEFL	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease type 2E	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 639457	NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys)	NEFL (G512C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1445766	NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup)	NEFL	Microsatellite (inframe_insertion)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1163019	NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu)	NEFL (G511E)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1436695	NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly)	NEFL (E510G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 652550	NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys)	NEFL (E510K)	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 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 412303	NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr)	NEFL (A505T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1516175	NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp)	NEFL (E504D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1418740	NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe)	NEFL (S502F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	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 2175857	NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)	NEFL (E501fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 993996	NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly)	NEFL (E501G)	Single nucleotide variant (missense variant)	not provided	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 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 1213143	NM_006158.5(NEFL):c.1490-193C>T	NEFL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 862026	NM_006158.5(NEFL):c.1489+6A>T	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	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 1326660	NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp)	NEFL (E494D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513826	NM_006158.5(NEFL):c.1482G>A (p.Glu494=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 447760	NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu)	NEFL (A491L)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	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 533511	NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)	NEFL (E488K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 382235	NM_006158.5(NEFL):c.1461G>A (p.Glu487=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1696833	NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys)	NEFL (E487K)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GUncertain significance
Select item 963849	NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)	NEFL (E487*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1426322	NM_006158.5(NEFL):c.1458C>G (p.Ala486=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
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 1390326	NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp)	NEFL (A486D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1384620	NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)	NEFL (K481del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 663136	NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)	NEFL (E480R)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance

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