ClinVar for MedGen (Select 1790407) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068694	NM_183357.3(ADCY5):c.1883G>A (p.Arg628His)	ADCY5 (R278H +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 2627543	NM_183357.3(ADCY5):c.327C>A (p.Asp109Glu)	ADCY5 (D109E)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1804151	NM_183357.3(ADCY5):c.3061C>T (p.Gln1021Ter)	ADCY5 (Q1021* +2 more)	Single nucleotide variant (nonsense)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1803015	NM_183357.3(ADCY5):c.1235G>T (p.Arg412Leu)	ADCY5 (R412L +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1710034	NM_183357.3(ADCY5):c.352C>G (p.Gln118Glu)	ADCY5 (Q118E)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1698920	NM_183357.3(ADCY5):c.593_604dup (p.Ala201_Val202insGlyProGlyAla)	ADCY5	Duplication (inframe_insertion)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1685504	NM_183357.3(ADCY5):c.-1dup (p.Met1fs)	ADCY5 (M1fs)	Duplication (frameshift variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1685503	NM_183357.3(ADCY5):c.2278C>T (p.Arg760Ter)	ADCY5 (R410* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1685236	NM_183357.3(ADCY5):c.2072A>T (p.Lys691Met)	ADCY5 (K341M +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1685235	NM_183357.3(ADCY5):c.3074A>G (p.Glu1025Gly)	ADCY5 (E1025G +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1679241	NM_183357.3(ADCY5):c.2074G>A (p.Glu692Lys)	ADCY5 (E342K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1489655	NM_183357.3(ADCY5):c.422C>T (p.Ala141Val)	ADCY5 (A141V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1338996	NM_183357.3(ADCY5):c.632C>T (p.Ala211Val)	ADCY5 (A211V)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1334088	NM_183357.3(ADCY5):c.649C>T (p.Arg217Cys)	ADCY5 (R217C)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1327478	NM_183357.3(ADCY5):c.697T>C (p.Tyr233His)	ADCY5 (Y233H)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GPathogenic
Select item 1327477	NM_183357.3(ADCY5):c.3045C>A (p.Asp1015Glu)	ADCY5 (D1015E +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GPathogenic
Select item 1304235	NM_183357.3(ADCY5):c.3532+20G>T	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1287850	NM_183357.3(ADCY5):c.1646+29C>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign
Select item 1274311	NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign
Select item 1266083	NM_183357.3(ADCY5):c.3064-53C>T	ADCY5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia +3 more	GBenign
Select item 1247103	NM_183357.3(ADCY5):c.1646+58G>A	ADCY5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia +3 more	GBenign
Select item 1236068	NM_183357.3(ADCY5):c.3063+27G>A	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1235758	NM_183357.3(ADCY5):c.2257-79T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign
Select item 1224969	NM_183357.3(ADCY5):c.2111+100T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign
Select item 1211556	NM_183357.3(ADCY5):c.351G>A (p.Arg117=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign/Likely benign
Select item 1189010	NM_183357.3(ADCY5):c.1406+70_1406+73dup	ADCY5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1189009	NM_183357.3(ADCY5):c.1519-75T>G	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189008	NM_183357.3(ADCY5):c.2257-83T>G	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189007	NM_183357.3(ADCY5):c.2724+32C>G	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188959	NM_183357.3(ADCY5):c.2724+64T>C	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188958	NM_183357.3(ADCY5):c.2931-31C>G	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188957	NM_183357.3(ADCY5):c.3063+54G>A	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188956	NM_183357.3(ADCY5):c.3532+78A>C	ADCY5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188830	NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del)	ADCY5	Deletion (inframe_deletion)	Dyskinesia with orofacial involvement, autosomal dominant	GPathogenic
Select item 1170029	NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu)	ADCY5 (P10L)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 1169341	NM_183357.3(ADCY5):c.2900+4T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign
Select item 1167872	NM_183357.3(ADCY5):c.753C>T (p.Leu251=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 1167871	NM_183357.3(ADCY5):c.2111+12G>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign
Select item 1165864	NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu)	ADCY5 (P81L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1165394	NM_183357.3(ADCY5):c.3064-18G>A	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1164246	NM_183357.3(ADCY5):c.144C>T (p.Gly48=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1164245	NM_183357.3(ADCY5):c.1805+13T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign
Select item 1031781	NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)	ADCY5 (G134S)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 1031780	NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg)	ADCY5 (P132R)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1030446	NM_183357.3(ADCY5):c.503G>A (p.Arg168His)	ADCY5 (R168H)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1030392	NM_183357.3(ADCY5):c.2443-14T>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 931467	NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)	ADCY5 (V1230M +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 918056	NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del)	ADCY5 (D80del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 915299	NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile)	ADCY5 (V584I +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 807534	NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val)	ADCY5 (A441V +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 807533	NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe)	ADCY5 (I110F +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 807532	NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu)	ADCY5 (K691E +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 801999	NM_183357.3(ADCY5):c.459_460del (p.Arg154fs)	ADCY5 (R154fs)	Deletion (frameshift variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 801998	NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr)	ADCY5 (P177T +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 801997	NM_183357.3(ADCY5):c.1647-17T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +1 more	GBenign
Select item 801996	NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala)	ADCY5 (E1025A +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 784018	NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 775045	NM_183357.3(ADCY5):c.1285-8C>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign/Likely benign
Select item 706217	NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)	ADCY5 (D606N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 703755	NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign/Likely benign
Select item 703359	NM_183357.3(ADCY5):c.816C>A (p.Ala272=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 703250	NM_183357.3(ADCY5):c.3012C>T (p.His1004=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 702999	NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 702629	NM_183357.3(ADCY5):c.963G>A (p.Gln321=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 702084	NM_183357.3(ADCY5):c.130C>T (p.His44Tyr)	ADCY5 (H44Y)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 701916	NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 697629	NM_183357.3(ADCY5):c.1285-6C>T	ADCY5	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 697428	NM_183357.3(ADCY5):c.2481C>A (p.Ile827=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 587479	NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln)	ADCY5 (E34Q)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 390053	NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr)	ADCY5 (A102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 389810	NM_183357.3(ADCY5):c.3169C>T (p.Arg1057Trp)	ADCY5 (R1057W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381222	NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)	ADCY5 (E634D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218355	NM_183357.3(ADCY5):c.2088+1G>A	ADCY5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 218354	NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)	ADCY5 (R418Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 208485	NM_183357.3(ADCY5):c.2088+1G>T	ADCY5	Single nucleotide variant (splice donor variant)	Dyskinesia with orofacial involvement, autosomal dominant	GPathogenic
Select item 162092	NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys)	ADCY5 (M1029K +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GPathogenic
Select item 162091	NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)	ADCY5 (A726T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 162090	NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	ADCY5 (R418W +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +2 more	GPathogenic

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Items: 78