ClinVar for MedGen (Select 1794246) - ClinVar

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Items: 32

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13274821.	NM_183357.3(ADCY5):c.1762G>A (p.Asp588Asn) GRCh37: Chr3:123047534 GRCh38: Chr3:123328687	ADCY5	D588N, D238N	Dyskinesia with orofacial involvement, autosomal recessive	Pathogenic (Aug 11, 2022)	no assertion criteria provided
Select item 13042352.	NM_183357.3(ADCY5):c.3532+20G>T GRCh37: Chr3:123008577 GRCh38: Chr3:123289730	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12878503.	NM_183357.3(ADCY5):c.1646+29C>A GRCh37: Chr3:123049707 GRCh38: Chr3:123330860	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12743114.	NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=) GRCh37: Chr3:123046573 GRCh38: Chr3:123327726	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12660835.	NM_183357.3(ADCY5):c.3064-53C>T GRCh37: Chr3:123010276 GRCh38: Chr3:123291429	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12471036.	NM_183357.3(ADCY5):c.1646+58G>A GRCh37: Chr3:123049678 GRCh38: Chr3:123330831	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12360687.	NM_183357.3(ADCY5):c.3063+27G>A GRCh37: Chr3:123014904 GRCh38: Chr3:123296057	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12357588.	NM_183357.3(ADCY5):c.2257-79T>C GRCh37: Chr3:123037043 GRCh38: Chr3:123318196	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12249699.	NM_183357.3(ADCY5):c.2111+100T>C GRCh37: Chr3:123039496 GRCh38: Chr3:123320649	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121155610.	NM_183357.3(ADCY5):c.351G>A (p.Arg117=) GRCh37: Chr3:123167042 GRCh38: Chr3:123448195	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118895711.	NM_183357.3(ADCY5):c.3063+54G>A GRCh37: Chr3:123014877 GRCh38: Chr3:123296030	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117002912.	NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu) GRCh37: Chr3:123167364 GRCh38: Chr3:123448517	ADCY5	P10L	not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116934113.	NM_183357.3(ADCY5):c.2900+4T>C GRCh37: Chr3:123018963 GRCh38: Chr3:123300116	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116787214.	NM_183357.3(ADCY5):c.753C>T (p.Leu251=) GRCh37: Chr3:123166640 GRCh38: Chr3:123447793	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116787115.	NM_183357.3(ADCY5):c.2111+12G>A GRCh37: Chr3:123039584 GRCh38: Chr3:123320737	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116586416.	NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) GRCh37: Chr3:123167151 GRCh38: Chr3:123448304	ADCY5	P81L	not provided, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 116539417.	NM_183357.3(ADCY5):c.3064-18G>A GRCh37: Chr3:123010241 GRCh38: Chr3:123291394	ADCY5		Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116424518.	NM_183357.3(ADCY5):c.1805+13T>C GRCh37: Chr3:123047478 GRCh38: Chr3:123328631	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103178119.	NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) GRCh37: Chr3:123166993 GRCh38: Chr3:123448146	ADCY5	G134S	not provided, Inborn genetic diseases, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 78401820.	NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=) GRCh37: Chr3:123003464 GRCh38: Chr3:123284617	ADCY5		Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77504521.	NM_183357.3(ADCY5):c.1285-8C>A GRCh37: Chr3:123066758 GRCh38: Chr3:123347911	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70375522.	NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=) GRCh37: Chr3:123008754 GRCh38: Chr3:123289907	ADCY5		Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70335923.	NM_183357.3(ADCY5):c.816C>A (p.Ala272=) GRCh37: Chr3:123166577 GRCh38: Chr3:123447730	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70325024.	NM_183357.3(ADCY5):c.3012C>T (p.His1004=) GRCh37: Chr3:123014982 GRCh38: Chr3:123296135	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, not provided, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70299925.	NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=) GRCh37: Chr3:123003545 GRCh38: Chr3:123284698	ADCY5		Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, not provided	Benign/Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70262926.	NM_183357.3(ADCY5):c.963G>A (p.Gln321=) GRCh37: Chr3:123166430 GRCh38: Chr3:123447583	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive	Benign/Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70208427.	NM_183357.3(ADCY5):c.130C>T (p.His44Tyr) GRCh37: Chr3:123167263 GRCh38: Chr3:123448416	ADCY5	H44Y	not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70191628.	NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=) GRCh37: Chr3:123014979 GRCh38: Chr3:123296132	ADCY5		not provided, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69762929.	NM_183357.3(ADCY5):c.1285-6C>T GRCh37: Chr3:123066756 GRCh38: Chr3:123347909	ADCY5		Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal dominant, not provided, Inborn genetic diseases	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 69742830.	NM_183357.3(ADCY5):c.2481C>A (p.Ile827=) GRCh37: Chr3:123022992 GRCh38: Chr3:123304145	ADCY5		not provided, Dyskinesia with orofacial involvement, autosomal dominant, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52103631.	NM_183357.3(ADCY5):c.409_428del (p.Gly137fs) GRCh37: Chr3:123166965-123166984 GRCh38: Chr3:123448118-123448137	ADCY5	G137fs	Inborn genetic diseases	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 52103532.	NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys) GRCh37: Chr3:123014957 GRCh38: Chr3:123296110	ADCY5	R1013C, R663C, R1038C	Inborn genetic diseases	Likely pathogenic (Nov 13, 2020)	criteria provided, single submitter

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Items: 32