ClinVar for MedGen (Select 934757) - ClinVar

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

Links from MedGen

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691786	NM_021076.4(NEFH):c.1337T>C (p.Val446Ala)	NEFH (V446A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2575892	NM_021076.4(NEFH):c.2752del (p.Glu918fs)	NEFH (E918fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2CC	GLikely pathogenic
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 2175121	NM_021076.4(NEFH):c.1147C>T (p.Arg383Ter)	NEFH (R383*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2CC +1 more	GUncertain significance
Select item 1878329	NM_021076.4(NEFH):c.41dup (p.Phe15fs)	NEFH (F15fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806246	NM_021076.4(NEFH):c.1095del (p.Gln365fs)	NEFH (Q365fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 1504983	NM_021076.4(NEFH):c.1055G>A (p.Arg352His)	NEFH (R352H)	Single nucleotide variant (missense variant)	NEFH-related condition +2 more	GUncertain significance
Select item 1485781	NM_021076.4(NEFH):c.2396C>T (p.Ala799Val)	NEFH (A799V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC +1 more	GUncertain significance
Select item 1439890	NM_021076.4(NEFH):c.2891A>T (p.Lys964Met)	NEFH (K964M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1424969	NM_021076.4(NEFH):c.764T>C (p.Met255Thr)	NEFH (M255T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC +1 more	GUncertain significance
Select item 1334022	NM_021076.4(NEFH):c.406C>T (p.Gln136Ter)	NEFH (Q136*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2CC	GLikely pathogenic
Select item 1033975	NM_021076.4(NEFH):c.25G>C (p.Ala9Pro)	NEFH (A9P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 1033974	NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys)	NEFH (S776C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GConflicting classifications of pathogenicity
Select item 809344	NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)	NEFH (R346C)	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 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 225631	NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs)	NEFH (P1008fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2CC	GPathogenic
Select item 225630	NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)	NEFH (D1004fs)	Deletion (frameshift variant)	not provided	GPathogenic
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
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 25