ClinVar for Gene (Select 4359) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340162	NM_000530.8(MPZ):c.30del (p.Ser11fs)	MPZ (S11fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2I +5 more	GPathogenic
Select item 3256110	NM_000530.8(MPZ):c.279G>T (p.Gly93=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 3255529	NM_000530.8(MPZ):c.119G>T (p.Gly40Val)	MPZ (G40V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
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 3203644	NM_000530.8(MPZ):c.730C>T (p.Arg244Cys)	MPZ (R244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203638	NM_000530.8(MPZ):c.719T>A (p.Leu240Gln)	MPZ (L240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203628	NM_000530.8(MPZ):c.523C>T (p.Leu175Phe)	MPZ (L175F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068891	NM_000530.8(MPZ):c.651A>G (p.Pro217=)	MPZ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3062369	GRCh37/hg19 1q23.3(chr1:161224742-161415981)x3	CFAP126, MPZ +2 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062258	NM_000530.8(MPZ):c.562del (p.Ala188fs)	MPZ (A188fs)	Deletion (frameshift variant)	Dejerine-Sottas disease	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2738948	NM_000530.8(MPZ):c.577A>C (p.Arg193=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2737051	NM_000530.8(MPZ):c.648G>C (p.Thr216=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2728970	NM_000530.8(MPZ):c.90C>T (p.Ile30=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2724170	NM_000530.8(MPZ):c.75C>T (p.Ser25=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2717976	NM_000530.8(MPZ):c.606G>A (p.Leu202=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2712048	NM_000530.8(MPZ):c.68-3C>T	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2710423	NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)	MPZ (K84E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2705474	NM_000530.8(MPZ):c.646-12C>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2704959	NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)	MPZ (I114K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2704624	NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)	MPZ (T124S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2683933	NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)	MPZ (G72E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 2682676	NM_000530.8(MPZ):c.80C>G (p.Ala27Gly)	MPZ (A27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671834	NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)	MPZ	Deletion (inframe deletion)	Roussy-Lévy syndrome +2 more	GUncertain significance
Select item 2639510	NM_000530.8(MPZ):c.40C>T (p.Leu14=)	MPZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627479	NM_000530.8(MPZ):c.597G>C (p.Lys199Asn)	MPZ (K199N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I	GUncertain significance
Select item 2627448	NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn)	MPZ (Y88N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GUncertain significance
Select item 2579141	NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)	MPZ	Deletion (nonsense)	Charcot-Marie-Tooth disease type 2J	GPathogenic
Select item 2578587	NM_000530.8(MPZ):c.431T>A (p.Leu144Gln)	MPZ (L144Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578457	NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)	MPZ (S25fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 2574681	NM_000530.8(MPZ):c.476G>C (p.Gly159Ala)	MPZ (G159A)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2572063	NM_000530.8(MPZ):c.234+1G>A	MPZ	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 2525935	NM_000530.8(MPZ):c.164G>A (p.Ser55Asn)	MPZ (S55N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506219	NC_000001.10:g.(161277215_161279628)_(161279763_?)dup	MPZ	Duplication	not specified	GUncertain significance
Select item 2505530	NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)	MPZ (G155R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +4 more	GUncertain significance
Select item 2504290	NM_000530.8(MPZ):c.448+1G>A	MPZ	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2498194	NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)	MPZ (E71G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +1 more	GUncertain significance
Select item 2433793	NM_000530.8(MPZ):c.358A>G (p.Ser120Gly)	MPZ (S120G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433792	NM_000530.8(MPZ):c.117T>A (p.His39Gln)	MPZ (H39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2423232	NC_000001.10:g.(?_161275666)_(161279695_?)del	MPZ	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2202877	NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter)	MPZ (Y88*)	Duplication (nonsense)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2198125	NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)	MPZ (T229A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2197972	NM_000530.8(MPZ):c.555C>T (p.Arg185=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2172147	NM_000530.8(MPZ):c.448G>T (p.Val150Leu)	MPZ (V150L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2142829	NM_000530.8(MPZ):c.584+8G>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2137786	NM_000530.8(MPZ):c.78G>A (p.Pro26=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2135981	NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)	MPZ (D60N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2135745	NM_000530.8(MPZ):c.385G>T (p.Val129Phe)	MPZ (V129F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2126583	NM_000530.8(MPZ):c.304_305insC (p.Val102fs)	MPZ (V102fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2124272	NM_000530.8(MPZ):c.448+13A>T	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2120411	NM_000530.8(MPZ):c.448+2T>A	MPZ	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2117747	NM_000530.8(MPZ):c.209C>A (p.Pro70His)	MPZ (P70H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance

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