ClinVar for MedGen (Select 1794246) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327482	NM_183357.3(ADCY5):c.1762G>A (p.Asp588Asn)	ADCY5 (D588N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304235	NM_183357.3(ADCY5):c.3532+20G>T	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +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 +4 more	GBenign
Select item 1274311	NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1266083	NM_183357.3(ADCY5):c.3064-53C>T	ADCY5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1247103	NM_183357.3(ADCY5):c.1646+58G>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +4 more	GBenign
Select item 1236068	NM_183357.3(ADCY5):c.3063+27G>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +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 dominant +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 recessive +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 1188957	NM_183357.3(ADCY5):c.3063+54G>A	ADCY5	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1170029	NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu)	ADCY5 (P10L)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal recessive +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 +4 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)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia +3 more	GBenign
Select item 1165864	NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu)	ADCY5 (P81L)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +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 1164245	NM_183357.3(ADCY5):c.1805+13T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +4 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 784018	NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 775045	NM_183357.3(ADCY5):c.1285-8C>A	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 703755	NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +3 more	GBenign/Likely benign
Select item 702999	NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 702629	NM_183357.3(ADCY5):c.963G>A (p.Gln321=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 702084	NM_183357.3(ADCY5):c.130C>T (p.His44Tyr)	ADCY5 (H44Y)	Single nucleotide variant (missense variant)	not provided +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)	Dyskinesia with orofacial involvement, autosomal recessive +4 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 recessive +3 more	GBenign/Likely benign
Select item 521036	NM_183357.3(ADCY5):c.409_428del (p.Gly137fs)	ADCY5 (G137fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521035	NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys)	ADCY5 (R1013C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic

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Items: 32