ClinVar for MedGen (Select 335784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896881	NM_001540.5(HSPB1):c.109dup (p.Arg37fs)	HSPB1 (R37fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GLikely pathogenic
Select item 3726926	NM_001540.5(HSPB1):c.368A>T (p.Lys123Met)	HSPB1 (K123M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3721776	NM_001540.5(HSPB1):c.408G>A (p.Arg136=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3721210	NM_001540.5(HSPB1):c.487C>A (p.Leu163Met)	HSPB1 (L163M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3717714	NM_001540.5(HSPB1):c.91C>A (p.Gln31Lys)	HSPB1 (Q31K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3710045	NM_001540.5(HSPB1):c.330G>A (p.Thr110=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3705059	NM_001540.5(HSPB1):c.106C>T (p.Pro36Ser)	HSPB1 (P36S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3702850	NM_001540.5(HSPB1):c.187A>T (p.Ile63Phe)	HSPB1 (I63F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3702672	NM_001540.5(HSPB1):c.437C>A (p.Pro146His)	HSPB1 (P146H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3702537	NM_001540.5(HSPB1):c.390G>A (p.Glu130=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3693780	NM_001540.5(HSPB1):c.240A>C (p.Gln80His)	HSPB1 (Q80H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3683432	NM_001540.5(HSPB1):c.428+20C>T	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3670818	NM_001540.5(HSPB1):c.365-14_365-7del	HSPB1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3664578	NM_001540.5(HSPB1):c.492C>T (p.Thr164=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3644034	NM_001540.5(HSPB1):c.365-16C>T	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3632510	NM_001540.5(HSPB1):c.475C>T (p.Pro159Ser)	HSPB1 (P159S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3627821	NM_001540.5(HSPB1):c.390G>C (p.Glu130Asp)	HSPB1 (E130D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3626086	NM_001540.5(HSPB1):c.175C>A (p.Pro59Thr)	HSPB1 (P59T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3626007	NM_001540.5(HSPB1):c.322G>A (p.Glu108Lys)	HSPB1 (E108K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3624971	NM_001540.5(HSPB1):c.373G>A (p.Glu125Lys)	HSPB1 (E125K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3624483	NM_001540.5(HSPB1):c.461C>A (p.Ser154Tyr)	HSPB1 (S154Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3617950	NM_001540.5(HSPB1):c.177_183del (p.Ala61fs)	HSPB1 (A61fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3605530	NM_001540.5(HSPB1):c.128C>T (p.Ser43Leu)	HSPB1 (S43L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3391165	NM_001540.5(HSPB1):c.125G>A (p.Trp42Ter)	HSPB1 (W42*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3382865	NM_001540.5(HSPB1):c.401T>C (p.Ile134Thr)	HSPB1 (I134T)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GUncertain significance
Select item 3338066	NM_001540.5(HSPB1):c.610dup (p.Ala204fs)	HSPB1 (A204fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely pathogenic
Select item 3022736	NM_001540.5(HSPB1):c.189C>T (p.Ile63=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3020856	NM_001540.5(HSPB1):c.120G>A (p.Glu40=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3017883	NM_001540.5(HSPB1):c.365-10C>A	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 3016325	NM_001540.5(HSPB1):c.503C>T (p.Pro168Leu)	HSPB1 (P168L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 3004393	NM_001540.5(HSPB1):c.329C>T (p.Thr110Met)	HSPB1 (T110M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2992059	NM_001540.5(HSPB1):c.18C>G (p.Val6=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2980791	NM_001540.5(HSPB1):c.75T>C (p.His25=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2974935	NM_001540.5(HSPB1):c.364+13G>A	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2971385	NM_001540.5(HSPB1):c.364+9_364+26del	HSPB1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2967050	NM_001540.5(HSPB1):c.571_583del (p.Leu191fs)	HSPB1 (L191fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2962667	NM_001540.5(HSPB1):c.208G>A (p.Ala70Thr)	HSPB1 (A70T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2909600	NM_001540.5(HSPB1):c.457G>A (p.Val153Ile)	HSPB1 (V153I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2901535	NM_001540.5(HSPB1):c.152G>A (p.Trp51Ter)	HSPB1 (W51*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2896217	NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)	HSPB1 (L38M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2894071	NM_001540.5(HSPB1):c.11G>A (p.Arg4His)	HSPB1 (R4H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 2885634	NM_001540.5(HSPB1):c.429-4C>T	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2884503	NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)	HSPB1 (P39R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely pathogenic
Select item 2879581	NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)	HSPB1 (V6F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2814820	NM_001540.5(HSPB1):c.144C>T (p.Gly48=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2813636	NM_001540.5(HSPB1):c.478G>C (p.Glu160Gln)	HSPB1 (E160Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2807132	NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)	HSPB1 (E40*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2791510	NM_001540.5(HSPB1):c.502C>T (p.Pro168Ser)	HSPB1 (P168S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2786447	NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)	HSPB1 (A32D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2783464	NM_001540.5(HSPB1):c.536T>C (p.Ile179Thr)	HSPB1 (I179T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2782389	NM_001540.5(HSPB1):c.183C>T (p.Ala61=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2771029	NM_001540.5(HSPB1):c.364+7C>T	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2763253	NM_001540.5(HSPB1):c.144C>A (p.Gly48=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2759796	NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)	HSPB1 (A32S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2756913	NM_001540.5(HSPB1):c.612C>T (p.Ala204=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2737686	NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)	HSPB1 (R37W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2722453	NM_001540.5(HSPB1):c.177C>T (p.Pro59=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2720867	NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)	HSPB1 (L46V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2720347	NM_001540.5(HSPB1):c.347G>A (p.Gly116Asp)	HSPB1 (G116D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2719010	NM_001540.5(HSPB1):c.609C>T (p.Ala203=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2701705	NM_001540.5(HSPB1):c.225C>T (p.Arg75=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2664086	NM_001540.5(HSPB1):c.427A>T (p.Thr143Ser)	HSPB1 (T143S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2664085	NM_001540.5(HSPB1):c.293C>G (p.Ser98Cys)	HSPB1 (S98C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2502273	NM_001540.5(HSPB1):c.395G>T (p.Gly132Val)	HSPB1 (G132V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2428245	NM_001540.5(HSPB1):c.180C>T (p.Pro60=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2427179	NM_001540.5(HSPB1):c.474C>T (p.Ser158=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2424197	NC_000007.13:g.(?_75932030)_(75933490_?)dup	HSPB1	Duplication	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2424196	NC_000007.13:g.(?_75932030)_(75933490_?)del	HSPB1	Deletion	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2424195	NC_000007.13:g.(?_75932366)_(75934037_?)del	HSPB1	Deletion	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2417138	NM_001540.5(HSPB1):c.518C>T (p.Ala173Val)	HSPB1 (A173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416120	NM_001540.5(HSPB1):c.429-16CT[2]	HSPB1	Microsatellite (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2198218	NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)	HSPB1 (E40V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2185299	NM_001540.5(HSPB1):c.507G>A (p.Met169Ile)	HSPB1 (M169I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2184970	NM_001540.5(HSPB1):c.429-7C>G	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2175596	NM_001540.5(HSPB1):c.364+11C>G	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2160837	NM_001540.5(HSPB1):c.223C>T (p.Arg75Cys)	HSPB1 (R75C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2142404	NM_001540.5(HSPB1):c.80G>A (p.Arg27His)	HSPB1 (R27H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2141013	NM_001540.5(HSPB1):c.75T>G (p.His25Gln)	HSPB1 (H25Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2135818	NM_001540.5(HSPB1):c.362C>G (p.Thr121Ser)	HSPB1 (T121S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2126295	NM_001540.5(HSPB1):c.199G>A (p.Ala67Thr)	HSPB1 (A67T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2116361	NM_001540.5(HSPB1):c.477T>G (p.Pro159=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 2062812	NM_001540.5(HSPB1):c.600T>G (p.Asp200Glu)	HSPB1 (D200E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2057093	NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)	HSPB1 (P14S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 2035012	NM_001540.5(HSPB1):c.472del (p.Ser158fs)	HSPB1 (S158fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F	GPathogenic
Select item 1986309	NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)	HSPB1 (E201G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 1971446	NM_001540.5(HSPB1):c.435C>T (p.Pro145=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1969730	NM_001540.5(HSPB1):c.196C>T (p.Pro66Ser)	HSPB1 (P66S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1969539	NM_001540.5(HSPB1):c.365G>A (p.Gly122Asp)	HSPB1 (G122D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1954022	NM_001540.5(HSPB1):c.599A>T (p.Asp200Val)	HSPB1 (D200V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1936886	NM_001540.5(HSPB1):c.318G>A (p.Pro106=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1930599	NM_001540.5(HSPB1):c.245_246insT (p.Ser83fs)	HSPB1 (S83fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2F	GPathogenic
Select item 1930566	NM_001540.5(HSPB1):c.123G>A (p.Glu41=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1750378	NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)	HSPB1 (R20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1741034	NM_001540.5(HSPB1):c.44G>A (p.Ser15Asn)	HSPB1 (S15N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GUncertain significance
Select item 1733625	NM_001540.5(HSPB1):c.365-5C>A	HSPB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GConflicting classifications of pathogenicity
Select item 1719753	NM_001540.5(HSPB1):c.155C>G (p.Pro52Arg)	HSPB1 (P52R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F	GUncertain significance
Select item 1659948	NM_001540.5(HSPB1):c.459T>C (p.Val153=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1657175	NM_001540.5(HSPB1):c.45C>T (p.Ser15=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign
Select item 1651992	NM_001540.5(HSPB1):c.364+11dup	HSPB1	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2F	GBenign
Select item 1632993	NM_001540.5(HSPB1):c.537C>A (p.Ile179=)	HSPB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2F	GLikely benign

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