DRD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 16769	NC_000011.10:g.634826_636065=	DRD4	Insertion	Attention deficit-hyperactivity disorder, susceptibility to	Grisk factor
Select item 2507404	NM_000797.4(DRD4):c.-11C>T	DRD4	Single nucleotide variant (5 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 787592	NM_000797.4(DRD4):c.31G>C (p.Gly11Arg)	DRD4 (G11R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2585270	NM_000797.4(DRD4):c.52_62del (p.Pro18fs)	DRD4 (P18fs)	Deletion (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 738977	NM_000797.4(DRD4):c.51G>A (p.Gly17=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059869	NM_000797.4(DRD4):c.64GCATCTGCGGGG[1] (p.22ASAG[1])	DRD4	Microsatellite	DRD4-related disorder	GBenign
Select item 2277525	NM_000797.4(DRD4):c.79T>C (p.Ser27Pro)	DRD4 (S27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477177	NM_000797.4(DRD4):c.80C>G (p.Ser27Cys)	DRD4 (S27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407035	NM_000797.4(DRD4):c.104C>T (p.Ala35Val)	DRD4 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636616	NM_000797.4(DRD4):c.107C>T (p.Ala36Val)	DRD4 (A36V)	Single nucleotide variant (missense variant)	DRD4-related disorder	GUncertain significance
Select item 2204094	NM_000797.4(DRD4):c.122G>T (p.Gly41Val)	DRD4 (G41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764861	NM_000797.4(DRD4):c.126G>A (p.Val42=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409094	NM_000797.4(DRD4):c.139G>A (p.Ala47Thr)	DRD4 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065214	NM_000797.4(DRD4):c.155dup (p.Asn52fs)	DRD4 (N52fs)	Duplication (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GLikely pathogenic
Select item 3085778	NM_000797.4(DRD4):c.158C>G (p.Ser53Trp)	DRD4 (S53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387592	NM_000797.4(DRD4):c.181A>C (p.Thr61Pro)	DRD4 (T61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472191	NM_000797.4(DRD4):c.187C>T (p.Arg63Cys)	DRD4 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085779	NM_000797.4(DRD4):c.191C>T (p.Ala64Val)	DRD4 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714338	NM_000797.4(DRD4):c.222G>A (p.Val74=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477760	NM_000797.4(DRD4):c.227T>C (p.Leu76Pro)	DRD4 (L76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039973	NM_000797.4(DRD4):c.232G>A (p.Ala78Thr)	DRD4 (A78T)	Single nucleotide variant (missense variant)	DRD4-related disorder	GLikely benign
Select item 16767	NM_000797.4(DRD4):c.235_247del (p.Ala79fs)	DRD4 (A79fs)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2641080	NM_000797.4(DRD4):c.234C>T (p.Ala78=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752181	NM_000797.4(DRD4):c.249C>T (p.Leu83=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037821	NM_000797.4(DRD4):c.250G>A (p.Ala84Thr)	DRD4 (A84T)	Single nucleotide variant (missense variant)	DRD4-related disorder	GBenign
Select item 2411833	NM_000797.4(DRD4):c.256C>A (p.Leu86Met)	DRD4 (L86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224448	NM_000797.4(DRD4):c.283G>A (p.Glu95Lys)	DRD4 (E95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045465	NM_000797.4(DRD4):c.285+7C>T	DRD4	Single nucleotide variant (intron variant)	DRD4-related disorder	GLikely benign
Select item 745612	NM_000797.4(DRD4):c.286-7C>T	DRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3273757	NM_000797.4(DRD4):c.317G>A (p.Arg106His)	DRD4 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273760	NM_000797.4(DRD4):c.331C>A (p.Leu111Ile)	DRD4 (L111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490771	NM_000797.4(DRD4):c.335T>G (p.Met112Arg)	DRD4 (M112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085780	NM_000797.4(DRD4):c.341T>C (p.Met114Thr)	DRD4 (M114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273755	NM_000797.4(DRD4):c.353T>C (p.Leu118Pro)	DRD4 (L118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390506	NM_000797.4(DRD4):c.386T>G (p.Ile129Ser)	DRD4 (I129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063646	NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1])	DRD4	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 2554241	NM_000797.4(DRD4):c.416T>C (p.Val139Ala)	DRD4 (V139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085781	NM_000797.4(DRD4):c.419C>G (p.Pro140Arg)	DRD4 (P140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364367	NM_000797.4(DRD4):c.432C>G (p.Asn144Lys)	DRD4 (N144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085782	NM_000797.4(DRD4):c.433C>G (p.Arg145Gly)	DRD4 (R145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356919	NM_000797.4(DRD4):c.468C>A (p.Ile156=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related disorder	GLikely benign
Select item 2457234	NM_000797.4(DRD4):c.470G>A (p.Gly157Asp)	DRD4 (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236631	NM_000797.4(DRD4):c.485T>G (p.Leu162Arg)	DRD4 (L162R)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 3085783	NM_000797.4(DRD4):c.502G>A (p.Ala168Thr)	DRD4 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085784	NM_000797.4(DRD4):c.529G>T (p.Val177Leu)	DRD4 (V177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252040	NM_000797.4(DRD4):c.568C>G (p.Arg190Gly)	DRD4 (R190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16768	NM_000797.4(DRD4):c.581T>G (p.Val194Gly)	DRD4 (V194G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3049977	NM_000797.4(DRD4):c.603C>T (p.Phe201=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related disorder	GLikely benign
Select item 2512474	NM_000797.4(DRD4):c.607C>A (p.Leu203Ile)	DRD4 (L203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279201	NM_000797.4(DRD4):c.652G>T (p.Gly218Cys)	DRD4 (G218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049746	NM_000797.4(DRD4):c.684C>T (p.Ala228=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related disorder	GLikely benign
Select item 2327347	NM_000797.4(DRD4):c.698G>T (p.Arg233Leu)	DRD4 (R233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275006	NM_000797.4(DRD4):c.698G>C (p.Arg233Pro)	DRD4 (R233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548907	NM_000797.4(DRD4):c.712C>G (p.Pro238Ala)	DRD4 (P238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360186	NM_000797.4(DRD4):c.715A>C (p.Ser239Arg)	DRD4 (S239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389554	NM_000797.4(DRD4):c.716G>C (p.Ser239Thr)	DRD4 (S239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350970	NM_000797.4(DRD4):c.718G>A (p.Gly240Ser)	DRD4 (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085785	NM_000797.4(DRD4):c.719G>C (p.Gly240Ala)	DRD4 (G240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458479	NM_000797.4(DRD4):c.725G>C (p.Gly242Ala)	DRD4 (G242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517334	NM_000797.4(DRD4):c.728C>T (p.Pro243Leu)	DRD4 (P243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775292	NM_000797.4(DRD4):c.732T>C (p.Pro244=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344204	NM_000797.4(DRD4):c.737C>A (p.Pro246His)	DRD4 (P246H)	Single nucleotide variant (missense variant)	DRD4-related disorder	GUncertain significance
Select item 771438	NM_000797.4(DRD4):c.744A>C (p.Pro248=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065404	NM_000797.4(DRD4):c.759_806dup (p.Pro270_Arg271insGlnAspProCysGlyProAspCysAlaProProAlaProGlyLeuPro)	DRD4	Duplication (inframe_insertion)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2355033	NM_000797.4(DRD4):c.754C>T (p.Arg252Cys)	DRD4 (R252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678227	NM_000797.4(DRD4):c.763del (p.Gln255fs)	DRD4 (Q255fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2688971	NM_000797.4(DRD4):c.793_840del (p.Pro265_Pro280del)	DRD4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2465423	NM_000797.4(DRD4):c.773G>A (p.Cys258Tyr)	DRD4 (C258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273752	NM_000797.4(DRD4):c.802G>C (p.Gly268Arg)	DRD4 (G268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206306	NM_000797.4(DRD4):c.802G>T (p.Gly268Cys)	DRD4 (G268C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2507412	NM_000797.4(DRD4):c.807T>C (p.Leu269=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507413	NM_000797.4(DRD4):c.812G>A (p.Arg271Gln)	DRD4 (R271Q)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2613730	NM_000797.4(DRD4):c.814G>C (p.Gly272Arg)	DRD4 (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507414	NM_000797.4(DRD4):c.815G>A (p.Gly272Asp)	DRD4 (G272D)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507415	NM_000797.4(DRD4):c.816T>C (p.Gly272=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3273758	NM_000797.4(DRD4):c.817C>T (p.Pro273Ser)	DRD4 (P273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042005	NM_000797.4(DRD4):c.822_831del (p.Gly275fs)	DRD4 (G275fs)	Deletion (frameshift variant)	DRD4-related disorder	GLikely benign
Select item 2641081	NM_000797.4(DRD4):c.822C>T (p.Cys274=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357953	NM_000797.4(DRD4):c.824G>A (p.Gly275Asp)	DRD4 (G275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516518	NM_000797.4(DRD4):c.834T>G (p.Cys278Trp)	DRD4 (C278W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041386	NM_000797.4(DRD4):c.850_897del (p.Ser284_Pro299del)	DRD4	Deletion	DRD4-related disorder	GBenign
Select item 2641082	NM_000797.4(DRD4):c.843C>A (p.Ala281=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507416	NM_000797.4(DRD4):c.850A>G (p.Ser284Gly)	DRD4 (S284G)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2641083	NM_000797.4(DRD4):c.855C>T (p.Leu285=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085786	NM_000797.4(DRD4):c.860A>G (p.Gln287Arg)	DRD4 (Q287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206183	NM_000797.4(DRD4):c.860A>C (p.Gln287Pro)	DRD4 (Q287P)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity
Select item 2641084	NM_000797.4(DRD4):c.864C>T (p.Asp288=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585465	NM_000797.4(DRD4):c.869_870insTGG (p.Gly291_Pro292insGly)	DRD4	Duplication (inframe_insertion)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2324346	NM_000797.4(DRD4):c.874C>T (p.Pro292Ser)	DRD4 (P292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324347	NM_000797.4(DRD4):c.877G>A (p.Asp293Asn)	DRD4 (D293N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1206105	NM_000797.4(DRD4):c.889C>G (p.Pro297Ala)	DRD4 (P297A)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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