ClinVar for Gene (Select 10397) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233483	NM_006096.4(NDRG1):c.580del (p.His194fs)	NDRG1 (H113fs +3 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4D	GPathogenic
Select item 3186217	NM_006096.4(NDRG1):c.421G>T (p.Ala141Ser)	NDRG1 (A75S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 3022638	NM_006096.4(NDRG1):c.390-20A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3020858	NM_006096.4(NDRG1):c.389+17A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018370	NM_006096.4(NDRG1):c.906T>C (p.Ala302=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017015	NM_006096.4(NDRG1):c.99+10G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016277	NM_006096.4(NDRG1):c.855+20G>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015825	NM_006096.4(NDRG1):c.450+12G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3015207	NM_006096.4(NDRG1):c.451-7A>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3014706	NM_006096.4(NDRG1):c.756-15dup	LOC126860531, NDRG1	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3014448	NM_006096.4(NDRG1):c.755+12T>A	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013781	NM_006096.4(NDRG1):c.312C>G (p.Ala104=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013750	NM_006096.4(NDRG1):c.807+13C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013130	NM_006096.4(NDRG1):c.699-15A>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3010341	NM_006096.4(NDRG1):c.698+14G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3007519	NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)	NDRG1 (W109* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2984943	NM_006096.4(NDRG1):c.856-20C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2978825	NM_006096.4(NDRG1):c.595-17C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2971611	NM_006096.4(NDRG1):c.855+14A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2971111	NM_006096.4(NDRG1):c.699-13_699-12del	LOC126860531, NDRG1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2970965	NM_006096.4(NDRG1):c.267T>C (p.Phe89=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2965398	NM_006096.4(NDRG1):c.699-11G>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2965050	NM_006096.4(NDRG1):c.594+12G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2963958	NM_006096.4(NDRG1):c.342C>G (p.Ser114=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2961639	NM_006096.4(NDRG1):c.326+9C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2961200	NM_006096.4(NDRG1):c.326+20A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2960794	NM_006096.4(NDRG1):c.755+16C>T	NDRG1, LOC126860531	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2956915	NM_006096.4(NDRG1):c.944-17G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2955129	NM_006096.4(NDRG1):c.755+15T>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2919473	NM_006096.4(NDRG1):c.537+16G>A	NDRG1 (V185I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2918351	NM_006096.4(NDRG1):c.450+14C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2916858	NM_006096.4(NDRG1):c.698+8G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2913405	NM_006096.4(NDRG1):c.855+13C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2911790	NM_006096.4(NDRG1):c.892-17C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2911364	NM_006096.4(NDRG1):c.543A>G (p.Ser181=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2907035	NM_006096.4(NDRG1):c.64-12G>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2904631	NM_006096.4(NDRG1):c.755+12T>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2902775	NM_006096.4(NDRG1):c.206-16C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2902561	NM_006096.4(NDRG1):c.699-11G>A	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2901654	NM_006096.4(NDRG1):c.855+16T>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2900364	NM_006096.4(NDRG1):c.100-23_100-17del	NDRG1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2893503	NM_006096.4(NDRG1):c.1009C>T (p.Leu337=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2884428	NM_006096.4(NDRG1):c.100-20T>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2878717	NM_006096.4(NDRG1):c.99+12A>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2874714	NM_006096.4(NDRG1):c.417A>G (p.Thr139=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2871907	NM_006096.4(NDRG1):c.537+1G>T	NDRG1 (V180L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2865656	NM_006096.4(NDRG1):c.339C>G (p.Pro113=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2862011	NM_006096.4(NDRG1):c.99+14G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2859039	NM_006096.4(NDRG1):c.205+8_205+11del	NDRG1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2856028	NM_006096.4(NDRG1):c.892-15C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2847724	NM_006096.4(NDRG1):c.856-20C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2846079	NM_006096.4(NDRG1):c.144G>A (p.Leu48=)	NDRG1	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2842490	NM_006096.4(NDRG1):c.807+16A>G	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2838813	NM_006096.4(NDRG1):c.225C>G (p.Pro75=)	NDRG1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2838646	NM_006096.4(NDRG1):c.1173G>A (p.Glu391=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2830309	NM_006096.4(NDRG1):c.390-5T>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2825865	NM_006096.4(NDRG1):c.723A>T (p.Arg241=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2825304	NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)	NDRG1 (Y110* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2821683	NM_006096.4(NDRG1):c.126C>T (p.Gly42=)	NDRG1	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2819871	NM_006096.4(NDRG1):c.699-19A>C	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2816736	NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)	NDRG1 (W109* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2812793	NM_006096.4(NDRG1):c.327-20C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2808663	NM_006096.4(NDRG1):c.538-8C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2808350	NM_006096.4(NDRG1):c.87G>A (p.Glu29=)	NDRG1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2807721	NM_006096.4(NDRG1):c.690C>G (p.Ala230=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2807347	NM_006096.4(NDRG1):c.808-11C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2804373	NM_006096.4(NDRG1):c.699-19del	LOC126860531, NDRG1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2803266	NM_006096.4(NDRG1):c.855+16T>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2799474	NM_006096.4(NDRG1):c.63+19G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2799379	NM_006096.4(NDRG1):c.699-6C>A	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2797801	NM_006096.4(NDRG1):c.390-16G>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2796267	NM_006096.4(NDRG1):c.1050C>T (p.Thr350=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2794251	NM_006096.4(NDRG1):c.99+18C>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2792966	NM_006096.4(NDRG1):c.856-11C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2791363	NM_006096.4(NDRG1):c.389+18G>C	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2791034	NM_006096.4(NDRG1):c.891+13T>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2788864	NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)	NDRG1 (K14*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2784921	NM_006096.4(NDRG1):c.755+18C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2784860	NM_006096.4(NDRG1):c.808-16C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2783574	NM_006096.4(NDRG1):c.595-16A>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2783484	NM_006096.4(NDRG1):c.894G>C (p.Pro298=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2782529	NM_006096.4(NDRG1):c.1008T>C (p.Ser336=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2780723	NM_006096.4(NDRG1):c.75C>T (p.Gly25=)	NDRG1	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779238	NM_006096.4(NDRG1):c.429C>T (p.Ala143=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779092	NM_006096.4(NDRG1):c.126C>A (p.Gly42=)	NDRG1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2776585	NM_006096.4(NDRG1):c.573G>A (p.Val191=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2773298	NM_006096.4(NDRG1):c.326+12C>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2771733	NM_006096.4(NDRG1):c.969G>A (p.Leu323=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2770300	NM_006096.4(NDRG1):c.756-16C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2768302	NM_006096.4(NDRG1):c.856-13C>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2764191	NM_006096.4(NDRG1):c.699-16C>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2761781	NM_006096.4(NDRG1):c.340T>A (p.Ser114Thr)	NDRG1 (S114T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2761622	NM_006096.4(NDRG1):c.595-13T>G	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2757195	NM_006096.4(NDRG1):c.756-19G>T	LOC126860531, NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2752793	NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)	NDRG1 (G105fs +2 more)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2747616	NM_006096.4(NDRG1):c.142C>T (p.Leu48=)	NDRG1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2747201	NM_006096.4(NDRG1):c.726A>G (p.Pro242=)	LOC126860531, NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2746736	NM_006096.4(NDRG1):c.451-14G>T	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign

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