ClinVar for MedGen (Select 413468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246392	NC_000005.9:g.(?_1432559)_(1443312_?)del	SLC6A3	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 2996327	NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2996219	NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2995244	NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2981690	NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2981515	NM_001044.5(SLC6A3):c.1768-12T>C	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2980860	NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2970856	NM_001044.5(SLC6A3):c.287-6C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2969883	NM_001044.5(SLC6A3):c.287-5C>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2955264	NM_001044.5(SLC6A3):c.927+8_927+9del	SLC6A3	Deletion (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2917040	NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2911383	NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2908955	NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2905823	NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2902015	NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2898727	NM_001044.5(SLC6A3):c.1767+14C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2896474	NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2892392	NM_001044.5(SLC6A3):c.287-20G>C	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2889973	NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2889218	NM_001044.5(SLC6A3):c.287-5C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2887818	NM_001044.5(SLC6A3):c.927+11T>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2885112	NM_001044.5(SLC6A3):c.419-16del	SLC6A3	Deletion (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2867051	NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2863760	NM_001044.5(SLC6A3):c.653+11G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2863485	NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2845818	NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)	SLC6A3 (G234V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2832173	NM_001044.5(SLC6A3):c.1270-19C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2801268	NM_001044.5(SLC6A3):c.653+12T>C	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2759715	NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2756782	NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)	SLC6A3 (M371L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2741497	NM_001044.5(SLC6A3):c.1498+8C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2733664	NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2722836	NM_001044.5(SLC6A3):c.654-18G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2720391	NM_001044.5(SLC6A3):c.928-16C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2716276	NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2714906	NM_001044.5(SLC6A3):c.792+9C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2422705	NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2201262	NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2199765	NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)	SLC6A3 (V55L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2198785	NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2197985	NM_001044.5(SLC6A3):c.1398+12C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2196069	NM_001044.5(SLC6A3):c.286+10A>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2194823	NM_001044.5(SLC6A3):c.286+6T>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2194661	NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)	SLC6A3 (G481S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 2192968	NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2190513	NM_001044.5(SLC6A3):c.1399-19A>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2187949	NM_001044.5(SLC6A3):c.1767+16G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2183664	NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)	SLC6A3 (V364I)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2182437	NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)	SLC6A3 (S460C)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2176576	NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2176237	NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2175943	NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)	SLC6A3 (A214V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2175474	NM_001044.5(SLC6A3):c.654-3C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2174541	NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)	SLC6A3 (E598K)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2174442	NM_001044.5(SLC6A3):c.1269+12G>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2171463	NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2169896	NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)	SLC6A3 (G209W)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2167997	NM_001044.5(SLC6A3):c.24G>A (p.Val8=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2167227	NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)	SLC6A3 (V363L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2164934	NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)	SLC6A3 (V537M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 2161845	NM_001044.5(SLC6A3):c.1270-4G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2159735	NM_001044.5(SLC6A3):c.793-7C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2159058	NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2155693	NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)	SLC6A3 (F362L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2148402	NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2144465	NM_001044.5(SLC6A3):c.792+18C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2144240	NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GLikely benign
Select item 2143257	NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2142830	NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)	SLC6A3 (F534C)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2140639	NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)	SLC6A3 (D292G)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2140603	NM_001044.5(SLC6A3):c.654-8C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2138777	NM_001044.5(SLC6A3):c.1767+15G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2134423	NM_001044.5(SLC6A3):c.286+16G>C	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2127365	NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)	SLC6A3 (P545S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2093328	NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)	SLC6A3 (A592V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2089986	NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)	SLC6A3 (N185S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2086323	NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2082258	NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)	SLC6A3 (G195V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 2079605	NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)	SLC6A3 (L518V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2076050	NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2075857	NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2074900	NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)	SLC6A3 (V409M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2071633	NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2070958	NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2068864	NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2065949	NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2061489	NM_001044.5(SLC6A3):c.286+18C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2061144	NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2060364	NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2058641	NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)	SLC6A3 (D206H)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2058383	NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)	SLC6A3 (V83I)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2055248	NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2055174	NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)	SLC6A3 (A565S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2054575	NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2054045	NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)	SLC6A3 (G386R)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GLikely pathogenic
Select item 2052815	NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2050068	NM_001044.5(SLC6A3):c.1839+9_1839+14del	SLC6A3	Microsatellite (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2048765	NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)	SLC6A3 (I540T)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2048670	NM_001044.5(SLC6A3):c.419-5G>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2048448	NM_001044.5(SLC6A3):c.1398+16G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign

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