"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546912	NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr)	NEFH (N390T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522275	NM_021076.4(NEFH):c.1200C>T (p.Ala400=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66729	NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)	NEFH (E463K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 546913	NM_021076.4(NEFH):c.1575G>C (p.Lys525Asn)	NEFH (K525N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 522276	NM_021076.4(NEFH):c.1740C>T (p.Ser580=)	NEFH	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 66733	NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)	NEFH (P615L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 522277	NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])	NEFH	Duplication (inframe_insertion)	not provided +1 more	GBenign
Select item 522183	NM_021076.4(NEFH):c.2232T>C (p.Ala744=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66741	NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)	NEFH (E805A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66743	NM_021076.4(NEFH):c.2784A>G (p.Val928=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign