ClinVar for Gene (Select 9440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360723	NM_004268.5(MED17):c.379C>T (p.Leu127Phe)	MED17 (L127F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340935	NM_004268.5(MED17):c.776T>C (p.Val259Ala)	MED17 (V259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294045	NM_004268.5(MED17):c.176A>C (p.Glu59Ala)	LOC130006596, MED17 (E59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294043	NM_004268.5(MED17):c.1373C>A (p.Pro458His)	MED17 (P458H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294042	NM_004268.5(MED17):c.1173G>C (p.Met391Ile)	MED17 (M391I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294041	NM_004268.5(MED17):c.1270A>C (p.Ser424Arg)	MED17 (S424R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244758	NC_000011.9:g.(?_93529556)_(93540821_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244757	NC_000011.9:g.(?_93526874)_(93535158_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244756	NC_000011.9:g.(?_93517680)_(93530905_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3244755	NC_000011.9:g.(?_93530691)_(93530895_?)del	MED17	Deletion	not provided	GPathogenic
Select item 3233521	NM_004268.5(MED17):c.1856G>A (p.Arg619His)	MED17 (R619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124992	NM_004268.5(MED17):c.972C>G (p.His324Gln)	MED17 (H324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124991	NM_004268.5(MED17):c.805G>A (p.Gly269Ser)	MED17 (G269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124990	NM_004268.5(MED17):c.428C>T (p.Thr143Met)	MED17 (T143M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124989	NM_004268.5(MED17):c.1171A>G (p.Met391Val)	MED17 (M391V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023554	NM_004268.5(MED17):c.250+20C>T	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021427	NM_004268.5(MED17):c.45C>T (p.Cys15=)	LOC112136095, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016780	NM_004268.5(MED17):c.535C>T (p.Leu179=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016495	NM_004268.5(MED17):c.1012+13C>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015366	NM_004268.5(MED17):c.273C>T (p.Ser91=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014562	NM_004268.5(MED17):c.126T>C (p.Arg42=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013534	NM_004268.5(MED17):c.1013-18_1013-16del	MED17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3007581	NM_004268.5(MED17):c.859+11G>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003976	NM_004268.5(MED17):c.538C>T (p.Gln180Ter)	MED17 (Q180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000858	NM_004268.5(MED17):c.1576C>T (p.Leu526=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000039	NM_004268.5(MED17):c.444T>C (p.Ser148=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994477	NM_004268.5(MED17):c.1466+16_1466+17insCA	MED17	Insertion (intron variant)	not provided	GLikely benign
Select item 2994097	NM_004268.5(MED17):c.638-19A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992016	NM_004268.5(MED17):c.1012+8C>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986274	NM_004268.5(MED17):c.1585-13T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985631	NM_004268.5(MED17):c.1338A>T (p.Ala446=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983791	NM_004268.5(MED17):c.1329-5A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981680	NM_004268.5(MED17):c.1086A>G (p.Gln362=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980308	NM_004268.5(MED17):c.860-17T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969840	NM_004268.5(MED17):c.1839C>T (p.Asn613=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966019	NM_004268.5(MED17):c.99G>C (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965951	NM_004268.5(MED17):c.251-17TC[4]	MED17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2964400	NM_004268.5(MED17):c.1329-20T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962634	NM_004268.5(MED17):c.251-13T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961923	NM_004268.5(MED17):c.859+1G>T	MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2961519	NM_004268.5(MED17):c.250+16G>A	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959724	NM_004268.5(MED17):c.1466+16A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957795	NM_004268.5(MED17):c.417+12C>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957731	NM_004268.5(MED17):c.1002G>A (p.Gln334=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917807	NM_004268.5(MED17):c.1745-16T>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917747	NM_004268.5(MED17):c.251-18T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917687	NM_004268.5(MED17):c.250+2T>A	LOC130006596, MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2916505	NM_004268.5(MED17):c.251-14C>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916366	NM_004268.5(MED17):c.1389T>C (p.His463=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915933	NM_004268.5(MED17):c.860-18A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910964	NM_004268.5(MED17):c.1013-20C>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904001	NM_004268.5(MED17):c.1320A>G (p.Leu440=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903544	NM_004268.5(MED17):c.1143+14T>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899204	NM_004268.5(MED17):c.417+1G>C	MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2892494	NM_004268.5(MED17):c.251-17TC[6]	MED17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2892422	NM_004268.5(MED17):c.417+15T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889148	NM_004268.5(MED17):c.1745-14G>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886834	NM_004268.5(MED17):c.1599G>A (p.Gln533=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886200	NM_004268.5(MED17):c.522C>T (p.Asn174=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884380	NM_004268.5(MED17):c.1013-20C>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875747	NM_004268.5(MED17):c.1144-13C>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875723	NM_004268.5(MED17):c.775-18_775-15del	MED17	Deletion (intron variant)	not provided	GLikely benign
Select item 2871348	NM_004268.5(MED17):c.1328+15A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863138	NM_004268.5(MED17):c.464del (p.Gly155fs)	MED17 (G155fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863072	NM_004268.5(MED17):c.525A>G (p.Gln175=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860723	NM_004268.5(MED17):c.251-5T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858401	NM_004268.5(MED17):c.1122T>C (p.Asn374=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857223	NM_004268.5(MED17):c.1566G>A (p.Gln522=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855481	NM_004268.5(MED17):c.637+7A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853991	NM_004268.5(MED17):c.978G>A (p.Val326=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848576	NM_004268.5(MED17):c.795T>G (p.Ala265=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847768	NM_004268.5(MED17):c.549dup (p.Asn184fs)	MED17 (N184fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2846346	NM_004268.5(MED17):c.250+10G>A	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844947	NM_004268.5(MED17):c.250+7C>G	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842913	NM_004268.5(MED17):c.1585-16C>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842629	NM_004268.5(MED17):c.774_774+1delinsTT	MED17	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 2841765	NM_004268.5(MED17):c.1745-18T>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841535	NM_004268.5(MED17):c.1328+14A>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841529	NM_004268.5(MED17):c.775-9G>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840947	NM_004268.5(MED17):c.250+1G>A	LOC130006596, MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2838715	NM_004268.5(MED17):c.638-2A>C	MED17	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2838705	NM_004268.5(MED17):c.418-2del	MED17	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2833991	NM_004268.5(MED17):c.637+8T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831911	NM_004268.5(MED17):c.228C>T (p.Ser76=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829117	NM_004268.5(MED17):c.963A>G (p.Gln321=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824706	NM_004268.5(MED17):c.612C>G (p.Leu204=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823638	NM_004268.5(MED17):c.250+11C>T	LOC130006596, MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821933	NM_004268.5(MED17):c.1467-8_1467-7insA	MED17	Insertion (intron variant)	not provided	GLikely benign
Select item 2821704	NM_004268.5(MED17):c.219C>G (p.Ala73=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819563	NM_004268.5(MED17):c.859+13T>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818918	NM_004268.5(MED17):c.46G>T (p.Glu16Ter)	MED17 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2818888	NM_004268.5(MED17):c.1063C>T (p.Gln355Ter)	MED17 (Q355*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2815493	NM_004268.5(MED17):c.216C>A (p.Gly72=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813000	NM_004268.5(MED17):c.1552G>T (p.Glu518Ter)	MED17 (E518*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2808644	NM_004268.5(MED17):c.1012+17T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807949	NM_004268.5(MED17):c.786A>G (p.Gln262=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806886	NM_004268.5(MED17):c.860-4T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805642	NM_004268.5(MED17):c.251-10C>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804959	NM_004268.5(MED17):c.255G>A (p.Val85=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801193	NM_004268.5(MED17):c.860-20A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign

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