ClinVar for MedGen (Select 155486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247710	NC_000001.10:g.(?_161275666)_(161279695_?)dup	MPZ	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 3247709	NC_000001.10:g.(?_161275666)_(161276731_?)del	MPZ	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 3022918	NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)	MPZ (A160G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3018075	NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)	MPZ (K138T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3017150	NM_000304.4(PMP22):c.229A>G (p.Ile77Val)	PMP22 (I77V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3012572	NM_000399.5(EGR2):c.912C>T (p.Ala304=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 3000402	NM_000399.5(EGR2):c.897AGC[3] (p.Ala308_Ala309del)	EGR2	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3000377	NM_000399.5(EGR2):c.913G>A (p.Ala305Thr)	EGR2 (A255T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2988561	NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)	EGR2	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2983691	NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)	MPZ (R214L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2983439	NM_000530.8(MPZ):c.533_534del (p.Val178fs)	MPZ (V178fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2976652	NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)	MPZ (G163A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2974195	NM_000399.5(EGR2):c.157G>T (p.Gly53Ter)	EGR2 (G3* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2971415	NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)	MPZ (S140P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2967888	NM_000304.4(PMP22):c.78+7G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2964034	NM_000530.8(MPZ):c.234G>T (p.Ser78=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2957647	NM_000399.5(EGR2):c.398C>T (p.Ser133Leu)	EGR2 (S133L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2957573	NM_000399.5(EGR2):c.910GCC[4] (p.Ala308_Ala309del)	EGR2	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2955636	NM_000399.5(EGR2):c.874C>T (p.Pro292Ser)	EGR2 (P292S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2919901	NM_000304.4(PMP22):c.179-15G>C	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2917867	NM_000530.8(MPZ):c.68-11T>C	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2916409	NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)	EGR2 (A259P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2915198	NM_000399.5(EGR2):c.169+19C>T	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2914677	NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)	MPZ (G72A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2913861	NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)	PMP22 (L147P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2911915	NM_000530.8(MPZ):c.585-8T>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2910926	NM_000399.5(EGR2):c.843C>G (p.Thr281=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2910856	NM_000530.8(MPZ):c.142C>T (p.Leu48=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2910642	NM_000399.5(EGR2):c.1326C>T (p.Ser442=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2909484	NM_000530.8(MPZ):c.585-15T>C	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2908552	NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)	PMP22 (L138P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2908462	NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)	MPZ (A5S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2902563	NM_000399.5(EGR2):c.535G>A (p.Gly179Arg)	EGR2 (G192R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2902113	NM_000399.5(EGR2):c.430C>T (p.Leu144=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2900623	NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)	MPZ (V169D)	Indel (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2900622	NM_000530.8(MPZ):c.508_511del (p.Leu170fs)	MPZ (L170fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2899263	NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)	MPZ (T216A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2898059	NM_000530.8(MPZ):c.234+12G>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2895000	NM_000304.4(PMP22):c.153C>T (p.His51=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2892455	NM_000399.5(EGR2):c.292A>G (p.Ile98Val)	EGR2 (I48V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2890423	NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)	MPZ (K238N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2887451	NM_000399.5(EGR2):c.501G>A (p.Pro167=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2886838	NM_000530.8(MPZ):c.474G>C (p.Leu158=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2885409	NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)	EGR2 (Y310C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2884310	NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)	PMP22 (S22P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2875758	NM_000530.8(MPZ):c.489G>A (p.Gly163=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2871322	NM_000399.5(EGR2):c.1050G>T (p.Arg350=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2871321	NM_000399.5(EGR2):c.1323C>T (p.Ala441=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2870366	NM_000530.8(MPZ):c.529T>C (p.Tyr177His)	MPZ (Y177H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2857159	NM_000399.5(EGR2):c.867C>T (p.Ser289=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2855254	NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)	MPZ (G200E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2852587	NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)	EGR2 (T406S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2850221	NM_000530.8(MPZ):c.67G>A (p.Val23Met)	MPZ (V23M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2849285	NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)	MPZ (P205L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2849033	NM_000530.8(MPZ):c.18C>T (p.Pro6=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2845808	NM_000304.4(PMP22):c.330G>C (p.Val110=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2842254	NM_000304.4(PMP22):c.354G>A (p.Thr118=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2841969	NM_000530.8(MPZ):c.618A>T (p.Gly206=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2841808	NM_000530.8(MPZ):c.415_417del (p.Thr139del)	MPZ (T139del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2839878	NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)	PMP22	Deletion (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2839368	NM_000304.4(PMP22):c.23T>A (p.Ile8Asn)	PMP22 (I8N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2837297	NM_000530.8(MPZ):c.552A>G (p.Leu184=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2831413	NM_000530.8(MPZ):c.584+16dup	MPZ	Duplication (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2830787	NM_000304.4(PMP22):c.78+2T>C	PMP22	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2830338	NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)	MPZ (W53C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2828640	NM_000304.4(PMP22):c.376C>G (p.Leu126Val)	PMP22 (L126V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2827590	NM_000399.5(EGR2):c.1106C>G (p.Pro369Arg)	EGR2 (P319R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2827235	NM_000530.8(MPZ):c.145C>A (p.His49Asn)	MPZ (H49N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2824230	NM_000399.5(EGR2):c.712C>T (p.Leu238=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2823436	NM_000304.4(PMP22):c.480A>G (p.Glu160=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2820675	NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)	MPZ (F95L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2817825	NM_000530.8(MPZ):c.472C>T (p.Leu158=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2815850	NM_000530.8(MPZ):c.424G>A (p.Val142Ile)	MPZ (V142I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2814083	NM_000399.5(EGR2):c.762C>T (p.Asp254=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2812094	NM_000399.5(EGR2):c.1021C>T (p.Pro341Ser)	EGR2 (P354S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2811689	NM_000304.4(PMP22):c.138C>A (p.Ser46=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2811688	NM_000304.4(PMP22):c.139del (p.Ser47fs)	PMP22 (S47fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2810023	NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)	MPZ (G43A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2810022	NM_000399.5(EGR2):c.504del (p.Pro169fs)	EGR2 (P182fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2808588	NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)	PMP22 (C42Y)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2807510	NM_000530.8(MPZ):c.234+14G>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2804143	NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)	MPZ (K108R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2804047	NM_000530.8(MPZ):c.449-14C>T	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2803993	NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)	EGR2 (G295R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2796608	NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)	EGR2 (R405Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2794050	NM_000530.8(MPZ):c.282C>T (p.Thr94=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2792469	NM_000530.8(MPZ):c.448+19A>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2786003	NM_000304.4(PMP22):c.267C>T (p.Thr89=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2782539	NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)	MPZ (S9N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2782450	NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)	EGR2 (S420A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2778027	NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)	PMP22 (G93W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2777150	NM_000399.5(EGR2):c.170-11C>G	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2776393	NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)	MPZ (D35E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2773160	NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)	MPZ (W66G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2770145	NM_000530.8(MPZ):c.369C>T (p.Gly123=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2I +1 more	GUncertain significance
Select item 2763046	NM_000399.5(EGR2):c.882G>C (p.Leu294=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2762771	NM_000304.4(PMP22):c.219_223dup (p.Phe75fs)	PMP22 (F75fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2758440	NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)	MPZ (R192K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2746494	NM_000530.8(MPZ):c.182A>T (p.Asp61Val)	MPZ (D61V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2741870	NM_000399.5(EGR2):c.1414C>A (p.Arg472=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign

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