"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NEFL"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	GLikely benign
Select item 220209	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	NEFL (Q537R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 624316	NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)	NEFL (K529E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 66681	NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)	NEFL (E527del)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
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 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 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)	Charcot-Marie-Tooth disease type 2E +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 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 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 2175857	NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)	NEFL (E501fs)	Microsatellite (frameshift variant)	not provided +1 more	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 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 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)	Inborn genetic diseases +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 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
Select item 444741	NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)	NEFL (E477K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 1154717	NM_006158.5(NEFL):c.1428C>G (p.Ala476=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 1079440	NM_006158.5(NEFL):c.1428C>T (p.Ala476=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 1939559	NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)	NEFL (P471R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1351702	NM_006158.5(NEFL):c.1412C>A (p.Pro471His)	NEFL (P471H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 911788	NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)	NEFL (P470S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GConflicting classifications of pathogenicity
Select item 215429	NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +5 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 681610	NM_006158.5(NEFL):c.1395A>G (p.Glu465=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 1058750	NM_006158.5(NEFL):c.1391A>T (p.Glu464Val)	NEFL (E464V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2060148	NM_006158.5(NEFL):c.1386G>A (p.Lys462=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1574648	NM_006158.5(NEFL):c.1380T>C (p.Ala460=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 1357129	NM_006158.5(NEFL):c.1379C>T (p.Ala460Val)	NEFL (A460V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 234891	NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)	NEFL (I458T)	Single nucleotide variant (missense variant)	not provided +2 more	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 851554	NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)	NEFL (E453K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1021640	NM_006158.5(NEFL):c.1356C>G (p.Ile452Met)	NEFL (I452M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 852518	NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)	NEFL (Q451E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 948692	NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)	NEFL (E449D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1403650	NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg)	NEFL (Q448R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 533512	NM_006158.5(NEFL):c.1340T>C (p.Val447Ala)	NEFL (V447A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 571410	NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly)	NEFL (S445G)	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 447759	NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del)	NEFL (Y443del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2E +1 more	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 1F +2 more	GBenign/Likely benign
Select item 1375115	NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn)	NEFL (Y443N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1943594	NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 835542	NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)	NEFL (Y442C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1114656	NM_006158.5(NEFL):c.1320G>T (p.Pro440=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 1111808	NM_006158.5(NEFL):c.1320G>A (p.Pro440=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 155738	NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)	NEFL (P440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1469189	NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs)	NEFL (S401fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1371426	NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu)	NEFL (F439L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	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)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 1520471	NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)	NEFL (R437C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 644708	NM_006158.5(NEFL):c.1302G>A (p.Met434Ile)	NEFL (M434I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 651468	NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys)	NEFL (S431C)	Single nucleotide variant (missense variant)	not provided +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 916807	NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)	NEFL (G426S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 386862	NM_006158.5(NEFL):c.1275C>T (p.Gly425=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +2 more	GBenign/Likely benign
Select item 1492539	NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser)	NEFL (G425S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2090590	NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)	NEFL	Deletion (nonsense)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 999721	NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe)	NEFL (S422F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2506825	NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)	NEFL (R421Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464924	NM_006158.5(NEFL):c.1261C>A (p.Arg421=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 192322	NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)	NEFL (R421*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1078348	NM_006158.5(NEFL):c.1251G>A (p.Gln417=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2129904	NM_006158.5(NEFL):c.1248C>T (p.Ser416=)	NEFL	Single nucleotide variant (synonymous 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 2838458	NM_006158.5(NEFL):c.1240dup (p.Gln414fs)	NEFL (Q414fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic

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