"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916907	NM_006158.5(NEFL):c.1169+14G>A	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 1586715	NM_006158.5(NEFL):c.1169+8T>C	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 858962	NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2804039	NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)	LOC126860330, NEFL (Y389S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2136651	NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)	LOC126860330, NEFL (Y389C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GLikely pathogenic
Select item 1051239	NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu)	LOC126860330, NEFL (A387E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1498735	NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser)	LOC126860330, NEFL (I386S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2754954	NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)	LOC126860330, NEFL (I386V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 568237	NM_006158.5(NEFL):c.1154A>T (p.Glu385Val)	LOC126860330, NEFL (E385V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1718346	NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)	LOC126860330, NEFL (E385Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2735143	NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)	LOC126860330, NEFL (I384F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 953971	NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)	LOC126860330, NEFL (L382S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2015053	NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)	LOC126860330, NEFL (K379T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 624318	NM_006158.5(NEFL):c.1131C>T (p.Asn377=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 2121061	NM_006158.5(NEFL):c.1128C>A (p.Leu376=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2097210	NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)	LOC126860330, NEFL (L376P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2115105	NM_006158.5(NEFL):c.1125C>T (p.Leu375=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2505189	NM_006158.5(NEFL):c.1124T>A (p.Leu375His)	LOC126860330, NEFL (L375H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 533513	NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)	LOC126860330, NEFL (Q373*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 842075	NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)	LOC126860330, NEFL (R367Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1074146	NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter)	LOC126860330, NEFL (R367*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2732508	NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)	LOC126860330, NEFL (A366V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 917159	NM_006158.5(NEFL):c.1086G>A (p.Lys362=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 2968936	NM_006158.5(NEFL):c.1080C>A (p.Thr360=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 506872	NM_006158.5(NEFL):c.1080C>T (p.Thr360=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1895861	NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)	LOC126860330, NEFL (R359S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 412300	NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys)	LOC126860330, NEFL (E357K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2999149	NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)	LOC126860330, NEFL (E355D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1636535	NM_006158.5(NEFL):c.1059A>G (p.Lys353=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GBenign
Select item 1423616	NM_006158.5(NEFL):c.1054A>C (p.Asn352His)	LOC126860330, NEFL (N352H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2789611	NM_006158.5(NEFL):c.1050G>A (p.Thr350=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 958726	NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)	LOC126860330, NEFL (T350M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2999150	NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)	LOC126860330, NEFL (D349E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2806841	NM_006158.5(NEFL):c.1045-14T>C	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 1629331	NM_006158.5(NEFL):c.1045-17T>A	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign

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Items: 35