ClinVar for Gene (Select 1815) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085793	NM_000797.4(DRD4):c.989G>A (p.Arg330His)	DRD4 (R330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085792	NM_000797.4(DRD4):c.967C>T (p.Pro323Ser)	DRD4 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085791	NM_000797.4(DRD4):c.928T>C (p.Cys310Arg)	DRD4 (C310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085789	NM_000797.4(DRD4):c.917G>T (p.Cys306Phe)	DRD4 (C306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085788	NM_000797.4(DRD4):c.908C>G (p.Pro303Arg)	DRD4 (P303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085787	NM_000797.4(DRD4):c.908C>A (p.Pro303Gln)	DRD4 (P303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3085785	NM_000797.4(DRD4):c.719G>C (p.Gly240Ala)	DRD4 (G240A)	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 3085783	NM_000797.4(DRD4):c.502G>A (p.Ala168Thr)	DRD4 (A168T)	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 3085781	NM_000797.4(DRD4):c.419C>G (p.Pro140Arg)	DRD4 (P140R)	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 3085779	NM_000797.4(DRD4):c.191C>T (p.Ala64Val)	DRD4 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3085777	NM_000797.4(DRD4):c.1250C>T (p.Ala417Val)	DRD4 (A417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085776	NM_000797.4(DRD4):c.1132C>T (p.Pro378Ser)	DRD4 (P378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3065214	NM_000797.4(DRD4):c.155dup (p.Asn52fs)	DRD4 (N52fs)	Duplication (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GLikely pathogenic
Select item 3063646	NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1])	DRD4	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3059869	NM_000797.4(DRD4):c.64GCATCTGCGGGG[1] (p.22ASAG[1])	DRD4	Microsatellite (inframe deletion)	DRD4-related condition	GBenign
Select item 3056794	NM_000797.4(DRD4):c.1056C>G (p.Val352=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related condition	GBenign
Select item 3049977	NM_000797.4(DRD4):c.603C>T (p.Phe201=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related condition	GLikely benign
Select item 3049746	NM_000797.4(DRD4):c.684C>T (p.Ala228=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related condition	GLikely benign
Select item 3045465	NM_000797.4(DRD4):c.285+7C>T	DRD4	Single nucleotide variant (intron variant)	DRD4-related condition	GLikely benign
Select item 3043135	NM_000797.4(DRD4):c.1016G>A (p.Gly339Asp)	DRD4 (G339D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3042005	NM_000797.4(DRD4):c.822_831del (p.Gly275fs)	DRD4 (G275fs)	Deletion (frameshift variant)	DRD4-related condition	GLikely benign
Select item 3041386	NM_000797.4(DRD4):c.850_897del (p.Ser284_Pro299del)	DRD4	Deletion (inframe deletion)	DRD4-related condition	GBenign
Select item 3039973	NM_000797.4(DRD4):c.232G>A (p.Ala78Thr)	DRD4 (A78T)	Single nucleotide variant (missense variant)	DRD4-related condition	GLikely benign
Select item 3037821	NM_000797.4(DRD4):c.250G>A (p.Ala84Thr)	DRD4 (A84T)	Single nucleotide variant (missense variant)	DRD4-related condition	GBenign
Select item 3035356	NM_000797.4(DRD4):c.955G>A (p.Ala319Thr)	DRD4 (A319T)	Single nucleotide variant (missense variant)	DRD4-related condition	GLikely benign
Select item 3034636	NM_000797.4(DRD4):c.1235G>T (p.Arg412Leu)	DRD4 (R412L)	Single nucleotide variant (missense variant)	DRD4-related condition	GLikely benign
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	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 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641085	NM_000797.4(DRD4):c.994A>C (p.Arg332=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641084	NM_000797.4(DRD4):c.864C>T (p.Asp288=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641083	NM_000797.4(DRD4):c.855C>T (p.Leu285=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641082	NM_000797.4(DRD4):c.843C>A (p.Ala281=)	DRD4	Single nucleotide variant (synonymous variant)	not provided	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 2641080	NM_000797.4(DRD4):c.234C>T (p.Ala78=)	DRD4	Single nucleotide variant (synonymous variant)	DRD4-related condition +1 more	GLikely benign
Select item 2636616	NM_000797.4(DRD4):c.107C>T (p.Ala36Val)	DRD4 (A36V)	Single nucleotide variant (missense variant)	DRD4-related condition	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 2602160	NM_000797.4(DRD4):c.1153G>A (p.Val385Ile)	DRD4 (V385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590388	NM_000797.4(DRD4):c.898G>C (p.Gly300Arg)	DRD4 (G300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2585270	NM_000797.4(DRD4):c.52_62del (p.Pro18fs)	DRD4 (P18fs)	Deletion (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	PHRF1, TALDO1 +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
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 2548907	NM_000797.4(DRD4):c.712C>G (p.Pro238Ala)	DRD4 (P238A)	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 2516518	NM_000797.4(DRD4):c.834T>G (p.Cys278Trp)	DRD4 (C278W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514126	NM_000797.4(DRD4):c.1212C>G (p.Asn404Lys)	DRD4 (N404K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2509341	NM_000797.4(DRD4):c.952G>A (p.Ala318Thr)	DRD4 (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507416	NM_000797.4(DRD4):c.850A>G (p.Ser284Gly)	DRD4 (S284G)	Single nucleotide variant (missense variant)	DRD4-related condition +1 more	GConflicting classifications of pathogenicity
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 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 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 2507412	NM_000797.4(DRD4):c.807T>C (p.Leu269=)	DRD4	Single nucleotide variant (synonymous variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507406	NM_000797.4(DRD4):c.1058-32G>C	DRD4	Single nucleotide variant (intron variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507405	NM_000797.4(DRD4):c.933T>G (p.Ala311=)	DRD4	Single nucleotide variant (synonymous variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 2477760	NM_000797.4(DRD4):c.227T>C (p.Leu76Pro)	DRD4 (L76P)	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 2472191	NM_000797.4(DRD4):c.187C>T (p.Arg63Cys)	DRD4 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471714	NM_000797.4(DRD4):c.1075T>G (p.Trp359Gly)	DRD4 (W359G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471713	NM_000797.4(DRD4):c.1074C>G (p.Cys358Trp)	DRD4 (C358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466199	NM_000797.4(DRD4):c.898G>A (p.Gly300Ser)	DRD4 (G300S)	Single nucleotide variant (missense variant)	not specified	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 2458479	NM_000797.4(DRD4):c.725G>C (p.Gly242Ala)	DRD4 (G242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457234	NM_000797.4(DRD4):c.470G>A (p.Gly157Asp)	DRD4 (G157D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
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 2409094	NM_000797.4(DRD4):c.139G>A (p.Ala47Thr)	DRD4 (A47T)	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 2390506	NM_000797.4(DRD4):c.386T>G (p.Ile129Ser)	DRD4 (I129S)	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 2388877	NM_000797.4(DRD4):c.1030G>T (p.Ala344Ser)	DRD4 (A344S)	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 2364367	NM_000797.4(DRD4):c.432C>G (p.Asn144Lys)	DRD4 (N144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362925	NM_000797.4(DRD4):c.1218G>C (p.Glu406Asp)	DRD4 (E406D)	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 2357953	NM_000797.4(DRD4):c.824G>A (p.Gly275Asp)	DRD4 (G275D)	Single nucleotide variant (missense variant)	not specified	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 2350970	NM_000797.4(DRD4):c.718G>A (p.Gly240Ser)	DRD4 (G240S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2346772	NM_000797.4(DRD4):c.925A>G (p.Asn309Asp)	DRD4 (N309D)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GUncertain significance
Select item 2346771	NM_000797.4(DRD4):c.922T>C (p.Ser308Pro)	DRD4 (S308P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2340265	NM_000797.4(DRD4):c.1148G>C (p.Ser383Thr)	DRD4 (S383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335586	NM_000797.4(DRD4):c.919G>A (p.Gly307Ser)	DRD4 (G307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332537	NM_000797.4(DRD4):c.980C>T (p.Pro327Leu)	DRD4 (P327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2324347	NM_000797.4(DRD4):c.877G>A (p.Asp293Asn)	DRD4 (D293N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2279201	NM_000797.4(DRD4):c.652G>T (p.Gly218Cys)	DRD4 (G218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2276244	NM_000797.4(DRD4):c.958G>C (p.Ala320Pro)	DRD4 (A320P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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