ClinVar for Gene (Select 1813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025905	NM_000795.4(DRD2):c.181C>T (p.Arg61Cys)	DRD2 (R61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025731	NM_000795.4(DRD2):c.1043A>G (p.Asn348Ser)	DRD2 (N319S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990256	NM_000795.4(DRD2):c.1149C>T (p.Ile383=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2916864	NM_000795.4(DRD2):c.741C>A (p.Pro247=)	DRD2	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2908814	NM_000795.4(DRD2):c.967G>A (p.Ala323Thr)	DRD2 (A323T +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2891855	NM_000795.4(DRD2):c.1292T>C (p.Ile431Thr)	DRD2 (I431T +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2888339	NM_000795.4(DRD2):c.287T>C (p.Val96Ala)	DRD2 (V96A)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2885737	NM_000795.4(DRD2):c.449G>A (p.Arg150His)	DRD2 (R150H)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2861354	NM_000795.4(DRD2):c.219C>T (p.Ile73=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2849287	NM_000795.4(DRD2):c.144C>T (p.Ile48=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2844755	NM_000795.4(DRD2):c.532+11C>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2754524	NM_000795.4(DRD2):c.1139-3dup	DRD2	Duplication (intron variant)	Dystonic disorder	GBenign
Select item 2729438	NM_000795.4(DRD2):c.925G>A (p.Asp309Asn)	DRD2 (D280N +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2726405	NM_000795.4(DRD2):c.1023T>C (p.Phe341=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2711919	NM_000795.4(DRD2):c.183C>A (p.Arg61=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642381	NM_000795.4(DRD2):c.330C>T (p.Phe110=)	DRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642380	NM_000795.4(DRD2):c.1261G>A (p.Val421Met)	DRD2 (V392M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525453	NM_000795.4(DRD2):c.598G>A (p.Val200Met)	DRD2 (V200M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420957	NM_000795.4(DRD2):c.533-3C>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 2420313	NM_000795.4(DRD2):c.649C>T (p.Arg217Cys)	DRD2 (R217C)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2336820	NM_000795.4(DRD2):c.680G>A (p.Arg227His)	DRD2 (R227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296407	NM_000795.4(DRD2):c.157G>A (p.Val53Met)	DRD2 (V53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190985	NM_000795.4(DRD2):c.417C>G (p.Pro139=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2170685	NM_000795.4(DRD2):c.870C>T (p.Pro290=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2145249	NM_000795.4(DRD2):c.390C>T (p.Ile130=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2003830	NM_000795.4(DRD2):c.289G>A (p.Val97Ile)	DRD2 (V97I)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1971599	NM_000795.4(DRD2):c.426C>T (p.Tyr142=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 1969197	NM_000795.4(DRD2):c.113C>T (p.Ala38Val)	DRD2 (A38V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1896069	NM_000795.4(DRD2):c.396-8C>A	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1662455	NM_000795.4(DRD2):c.858C>T (p.Ser286=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1662326	NM_000795.4(DRD2):c.1139-653A>C	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 1644209	NM_000795.4(DRD2):c.1257C>T (p.Ser419=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1638216	NM_000795.4(DRD2):c.396-11C>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1600453	NM_000795.4(DRD2):c.810+20A>G	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 1599495	NM_000795.4(DRD2):c.-32+24002G>A	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 1573038	NM_000795.4(DRD2):c.533-6C>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1557345	NM_000795.4(DRD2):c.723+17dup	DRD2	Duplication (intron variant)	Dystonic disorder	GBenign
Select item 1543886	NM_000795.4(DRD2):c.533-545A>G	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 1540911	NM_000795.4(DRD2):c.285+15del	DRD2	Deletion (intron variant)	Dystonic disorder	GBenign
Select item 1429987	NM_000795.4(DRD2):c.70G>A (p.Gly24Arg)	DRD2 (G24R)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 1428794	NM_000795.4(DRD2):c.1079G>A (p.Arg360His)	DRD2 (R331H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1423388	NM_000795.4(DRD2):c.1126G>C (p.Ala376Pro)	DRD2 (A347P +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1380958	NM_000795.4(DRD2):c.1121T>G (p.Met374Arg)	DRD2 (M374R +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1362715	NM_000795.4(DRD2):c.533-545_533-544delinsGG	DRD2	Indel (intron variant)	Dystonic disorder	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1289649	NM_000795.4(DRD2):c.285+91A>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288934	NM_000795.4(DRD2):c.1139-174C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277750	NM_000795.4(DRD2):c.*52G>A	DRD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274192	NM_000795.4(DRD2):c.285+191C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272807	NM_000795.4(DRD2):c.811-75A>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272787	NM_000795.4(DRD2):c.723+227G>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271634	NM_000795.4(DRD2):c.286-324A>G	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264031	NM_000795.4(DRD2):c.724-126C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263149	NM_000795.4(DRD2):c.724-116C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259853	NM_000795.4(DRD2):c.-31-295C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258810	NM_000795.4(DRD2):c.811-200dup	DRD2	Duplication (intron variant)	not provided	GBenign
Select item 1253502	NM_000795.4(DRD2):c.1138+65T>G	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250420	NM_000795.4(DRD2):c.533-168T>C	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250004	NM_000795.4(DRD2):c.286-208G>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249149	NM_000795.4(DRD2):c.285+113A>G	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249116	NM_000795.4(DRD2):c.533-157G>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244690	NM_000795.4(DRD2):c.723+135G>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238634	NM_000795.4(DRD2):c.1139-134T>G	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236510	NC_000011.10:g.113475530dup	DRD2	Duplication	Dystonic disorder +1 more	GBenign
Select item 1234329	NM_000795.4(DRD2):c.286-179C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233872	NM_000795.4(DRD2):c.1139-208G>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233006	NM_000795.4(DRD2):c.532+74C>A	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167540	NM_000795.4(DRD2):c.724-353G>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 1165389	NC_000011.10:g.113476233A>G	DRD2	Single nucleotide variant	Dystonic disorder	GBenign
Select item 1157468	NM_000795.4(DRD2):c.942T>C (p.Gly314=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1144720	NM_000795.4(DRD2):c.1143G>A (p.Val381=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1108551	NM_000795.4(DRD2):c.533-4C>T	DRD2	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1079865	NM_000795.4(DRD2):c.924C>T (p.Pro308=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1061595	NM_000795.4(DRD2):c.536A>G (p.Gln179Arg)	DRD2 (Q179R)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1046844	NM_000795.4(DRD2):c.821G>A (p.Arg274Gln)	DRD2 (R245Q +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1009878	NM_000795.4(DRD2):c.151G>A (p.Gly51Ser)	DRD2 (G51S)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1005742	NM_000795.4(DRD2):c.295G>A (p.Glu99Lys)	DRD2 (E99K)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 967464	NM_000795.4(DRD2):c.526A>G (p.Asn176Asp)	DRD2 (N176D)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 935222	NM_000795.4(DRD2):c.947A>C (p.His316Pro)	DRD2 (H287P +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 862358	NM_000795.4(DRD2):c.781G>A (p.Gly261Arg)	DRD2 (G261R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 770604	NM_000795.4(DRD2):c.381C>T (p.Ala127=)	DRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760962	NM_000795.4(DRD2):c.903C>T (p.Ser301=)	DRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728548	NM_000795.4(DRD2):c.360G>C (p.Ala120=)	DRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724823	NM_000795.4(DRD2):c.1260C>T (p.Ala420=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 707784	NM_000795.4(DRD2):c.1272C>T (p.Ile424=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 702278	NM_000795.4(DRD2):c.156C>T (p.Asn52=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 701105	NM_000795.4(DRD2):c.1138+7C>T	DRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 699344	NM_000795.4(DRD2):c.741C>G (p.Pro247=)	DRD2	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 698494	NM_000795.4(DRD2):c.1138+9del	DRD2	Deletion (intron variant)	Dystonic disorder	GLikely benign
Select item 698405	NM_000795.4(DRD2):c.930G>A (p.Pro310=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 698072	NM_000795.4(DRD2):c.816T>C (p.Ala272=)	DRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697063	NM_000795.4(DRD2):c.78C>T (p.Asp26=)	DRD2	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign

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