ClinVar for Gene (Select 6509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030663	NM_003038.5(SLC1A4):c.177C>A (p.Gly59=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	SLC1A4-related condition	GLikely benign
Select item 3024238	NM_003038.5(SLC1A4):c.344G>A (p.Gly115Asp)	SLC1A4 (G115D)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GLikely pathogenic
Select item 3023339	NM_003038.5(SLC1A4):c.321C>T (p.Ala107=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023276	NM_003038.5(SLC1A4):c.111C>A (p.Gly37=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016805	NM_003038.5(SLC1A4):c.774G>A (p.Thr258=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010786	NM_003038.5(SLC1A4):c.1443A>C (p.Ala481=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008615	NM_003038.5(SLC1A4):c.429C>T (p.Ser143=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006687	NM_003038.5(SLC1A4):c.1230-11C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005542	NM_003038.5(SLC1A4):c.924T>C (p.His308=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000928	NM_003038.5(SLC1A4):c.1266C>T (p.Gly422=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999289	NM_003038.5(SLC1A4):c.1318C>T (p.Leu440=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999130	NM_003038.5(SLC1A4):c.1425C>T (p.His475=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996115	NM_003038.5(SLC1A4):c.372C>G (p.Thr124=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994219	NM_003038.5(SLC1A4):c.87G>C (p.Ala29=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993270	NM_003038.5(SLC1A4):c.1365-13C>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993241	NM_003038.5(SLC1A4):c.168G>A (p.Ala56=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991837	NM_003038.5(SLC1A4):c.1023T>A (p.Ala341=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991732	NM_003038.5(SLC1A4):c.900A>G (p.Ala300=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990224	NM_003038.5(SLC1A4):c.1335G>A (p.Leu445=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989945	NM_003038.5(SLC1A4):c.1323T>C (p.Pro441=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988652	NM_003038.5(SLC1A4):c.579C>T (p.Thr193=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2987659	NM_003038.5(SLC1A4):c.1229+16T>C	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987152	NM_003038.5(SLC1A4):c.1110T>C (p.Ile370=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987044	NM_003038.5(SLC1A4):c.951_954del (p.Ile316_Tyr317insTer)	SLC1A4	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 2986815	NM_003038.5(SLC1A4):c.1545C>T (p.Pro515=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986007	NM_003038.5(SLC1A4):c.348C>T (p.Ile116=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985756	NM_003038.5(SLC1A4):c.387G>A (p.Ser129=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985245	NM_003038.5(SLC1A4):c.571-19T>C	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984541	NM_003038.5(SLC1A4):c.627T>C (p.His209=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2984301	NM_003038.5(SLC1A4):c.1554C>A (p.Pro518=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984297	NM_003038.5(SLC1A4):c.963A>G (p.Thr321=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983163	NM_003038.5(SLC1A4):c.1524C>G (p.Pro508=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981903	NM_003038.5(SLC1A4):c.1034+16G>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981100	NM_003038.5(SLC1A4):c.975A>G (p.Pro325=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980653	NM_003038.5(SLC1A4):c.153G>C (p.Gly51=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980119	NM_003038.5(SLC1A4):c.147G>A (p.Val49=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979828	NM_003038.5(SLC1A4):c.540C>T (p.Pro180=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2979823	NM_003038.5(SLC1A4):c.558A>G (p.Ala186=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2979654	NM_003038.5(SLC1A4):c.1364+20A>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979050	NM_003038.5(SLC1A4):c.441C>T (p.Thr147=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978094	NM_003038.5(SLC1A4):c.141C>T (p.Leu47=)	SLC1A4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2976918	NM_003038.5(SLC1A4):c.816C>T (p.Gly272=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976575	NM_003038.5(SLC1A4):c.153G>A (p.Gly51=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974981	NM_003038.5(SLC1A4):c.1410T>G (p.Gly470=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974926	NM_003038.5(SLC1A4):c.634-20T>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972141	NM_003038.5(SLC1A4):c.773C>T (p.Thr258Met)	SLC1A4 (T258M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2969439	NM_003038.5(SLC1A4):c.435G>T (p.Ala145=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967806	NM_003038.5(SLC1A4):c.126A>G (p.Gln42=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967569	NM_003038.5(SLC1A4):c.528-20A>G	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967373	NM_003038.5(SLC1A4):c.81C>G (p.Thr27=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967281	NM_003038.5(SLC1A4):c.354C>T (p.Val118=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965981	NM_003038.5(SLC1A4):c.402C>T (p.Ala134=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965667	NM_003038.5(SLC1A4):c.726C>T (p.Ser242=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965557	NM_003038.5(SLC1A4):c.1005A>C (p.Pro335=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964682	NM_003038.5(SLC1A4):c.157C>T (p.Leu53=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962170	NM_003038.5(SLC1A4):c.591C>T (p.Val197=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2961533	NM_003038.5(SLC1A4):c.315C>A (p.Leu105=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960621	NM_003038.5(SLC1A4):c.972C>T (p.Asn324=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957974	NM_003038.5(SLC1A4):c.156G>A (p.Val52=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957970	NM_003038.5(SLC1A4):c.571-13C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957824	NM_003038.5(SLC1A4):c.528-18T>A	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957560	NM_003038.5(SLC1A4):c.199C>T (p.Leu67=)	SLC1A4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2957323	NM_003038.5(SLC1A4):c.222C>T (p.Tyr74=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956080	NM_003038.5(SLC1A4):c.189C>T (p.Arg63=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955310	NM_003038.5(SLC1A4):c.285C>G (p.Val95=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908116	NM_003038.5(SLC1A4):c.900A>C (p.Ala300=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906257	NM_003038.5(SLC1A4):c.1266C>A (p.Gly422=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904218	NM_003038.5(SLC1A4):c.858C>T (p.Asp286=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901149	NM_003038.5(SLC1A4):c.915T>C (p.His305=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900261	NM_003038.5(SLC1A4):c.1389T>C (p.Asn463=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897482	NM_003038.5(SLC1A4):c.1092G>A (p.Lys364=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892943	NM_003038.5(SLC1A4):c.1011G>A (p.Ala337=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886978	NM_003038.5(SLC1A4):c.1197A>G (p.Val399=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882312	NM_003038.5(SLC1A4):c.1031C>G (p.Ser344Cys)	SLC1A4 (S344C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2881880	NM_003038.5(SLC1A4):c.813G>T (p.Val271=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880740	NM_003038.5(SLC1A4):c.1401T>C (p.Asp467=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879073	NM_003038.5(SLC1A4):c.1229+1G>C	SLC1A4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2875872	NM_003038.5(SLC1A4):c.450C>T (p.Ser150=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874857	NM_003038.5(SLC1A4):c.351T>C (p.Ala117=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874665	NM_003038.5(SLC1A4):c.1557G>A (p.Val519=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873799	NM_003038.5(SLC1A4):c.79A>G (p.Thr27Ala)	SLC1A4 (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873632	NM_003038.5(SLC1A4):c.396C>T (p.Ala132=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873586	NM_003038.5(SLC1A4):c.183G>A (p.Ala61=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872634	NM_003038.5(SLC1A4):c.327C>T (p.Cys109=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872633	NM_003038.5(SLC1A4):c.324C>T (p.Ser108=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870024	NM_003038.5(SLC1A4):c.723C>T (p.Gly241=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864566	NM_003038.5(SLC1A4):c.1109T>C (p.Ile370Thr)	SLC1A4 (I150T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864343	NM_003038.5(SLC1A4):c.303C>A (p.Gly101=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864192	NM_003038.5(SLC1A4):c.837C>T (p.Ser279=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861117	NM_003038.5(SLC1A4):c.527+17C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860354	NM_003038.5(SLC1A4):c.624C>G (p.Thr208=)	SLC1A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2858229	NM_003038.5(SLC1A4):c.810T>C (p.Pro270=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855946	NM_003038.5(SLC1A4):c.216C>T (p.Val72=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855331	NM_003038.5(SLC1A4):c.1229+9C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855223	NM_003038.5(SLC1A4):c.801-16del	SLC1A4	Deletion (intron variant)	not provided	GLikely benign
Select item 2853269	NM_003038.5(SLC1A4):c.51G>A (p.Gly17=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849484	NM_003038.5(SLC1A4):c.414C>T (p.Ile138=)	SLC1A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845224	NM_003038.5(SLC1A4):c.1224C>T (p.Thr408=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844714	NM_003038.5(SLC1A4):c.1229+20C>T	SLC1A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838166	NM_003038.5(SLC1A4):c.1524C>T (p.Pro508=)	SLC1A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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