Related gene-specific medical variations for Gene (Select 4744) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434325	NM_021076.4(NEFH):c.2369AGG[2] (p.Glu792del)	NEFH (E792del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2434324	NM_021076.4(NEFH):c.2878G>A (p.Glu960Lys)	NEFH (E960K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2434323	NM_021076.4(NEFH):c.337del (p.Asp113fs)	NEFH (D113fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2434322	NM_021076.4(NEFH):c.2048C>T (p.Pro683Leu)	NEFH (P683L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2434321	NM_021076.4(NEFH):c.1516G>A (p.Ala506Thr)	NEFH (A506T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 687542	GRCh37/hg19 22q12.2(chr22:29863157-29891274)x1	NEFH	Copy number loss	not provided	GUncertain significance
Select item 66739	NM_021076.4(NEFH):c.2234A>T (p.Lys745Met)	NEFH (K745M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66728	NM_021076.4(NEFH):c.1375G>A (p.Glu459Lys)	NEFH (E459K)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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