ClinVar for Gene (Select 6531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3067705	NM_001044.5(SLC6A3):c.1398+8C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3065418	NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)	SLC6A3 (R219C)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3031981	NM_001044.5(SLC6A3):c.645G>A (p.Glu215=)	SLC6A3	Single nucleotide variant (synonymous variant)	SLC6A3-related disorder	GLikely benign
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 2920607	NM_001044.5(SLC6A3):c.950_989del	SLC6A3	Deletion (3 prime UTR variant)	Schizophrenia	GUncertain risk allele
Select item 2920606	NM_001044.5(SLC6A3):c.419-3595A>T	SLC6A3	Single nucleotide variant (intron variant)	Schizophrenia	GBenign
Select item 2920605	NC_000005.10:g.1448033A>G	SLC6A3	Single nucleotide variant	Schizophrenia	GBenign
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 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655276	NM_001044.5(SLC6A3):c.1389C>A (p.Cys463Ter)	SLC6A3 (C463*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2585508	NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)	SLC6A3 (G502R)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2558547	NM_001044.5(SLC6A3):c.1052C>T (p.Ser351Phe)	SLC6A3 (S351F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543051	NM_001044.5(SLC6A3):c.563A>G (p.Asn188Ser)	SLC6A3 (N188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541637	NM_001044.5(SLC6A3):c.1800C>A (p.Asp600Glu)	SLC6A3 (D600E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2535472	NM_001044.5(SLC6A3):c.1334G>A (p.Arg445His)	SLC6A3 (R445H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525478	NM_001044.5(SLC6A3):c.1828C>T (p.Arg610Cys)	SLC6A3 (R610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499598	NM_001044.5(SLC6A3):c.792+4A>T	SLC6A3	Single nucleotide variant (intron variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2499597	NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)	SLC6A3	Indel (nonsense)	Classic dopamine transporter deficiency syndrome	GPathogenic
Select item 2483515	NM_001044.5(SLC6A3):c.1681G>A (p.Gly561Ser)	SLC6A3 (G561S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436069	NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)	SLC6A3 (V73I)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2430773	NM_001044.5(SLC6A3):c.280G>A (p.Gly94Ser)	SLC6A3 (G94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430420	NM_001044.5(SLC6A3):c.709C>T (p.Arg237Trp)	SLC6A3 (R237W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427645	NC_000005.9:g.(?_1201766)_(1443312_?)dup	CLPTM1L, SLC6A18 +3 more	Duplication	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
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	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

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