ClinVar for Gene (Select 109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358782	NM_004036.5(ADCY3):c.2333C>T (p.Thr778Met)	ADCY3 (T537M +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3358559	NM_004036.5(ADCY3):c.2228C>T (p.Thr743Met)	ADCY3 (T502M +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3358535	NM_004036.5(ADCY3):c.102G>A (p.Arg34=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3358526	NM_004036.5(ADCY3):c.2446G>A (p.Ala816Thr)	ADCY3 (A575T +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3358444	NM_004036.5(ADCY3):c.2544C>T (p.Leu848=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3358353	NM_004036.5(ADCY3):c.826-7dup	ADCY3	Duplication (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3358345	NM_004036.5(ADCY3):c.172G>T (p.Val58Leu)	ADCY3 (V58L)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3358322	NM_004036.5(ADCY3):c.2823C>T (p.Ile941=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3358266	NM_004036.5(ADCY3):c.2849G>A (p.Arg950His)	ADCY3 (R709H +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3358259	NM_004036.5(ADCY3):c.2120C>T (p.Thr707Ile)	ADCY3 (T466I +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3358154	NM_004036.5(ADCY3):c.1125C>G (p.Gly375=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3358145	NM_004036.5(ADCY3):c.3237C>T (p.Val1079=)	ADCY3, CENPO	Single nucleotide variant (non-coding transcript variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3357929	NM_004036.5(ADCY3):c.2352A>G (p.Ala784=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3357878	NM_004036.5(ADCY3):c.1644C>T (p.Pro548=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357828	NM_004036.5(ADCY3):c.2412C>G (p.His804Gln)	ADCY3 (H563Q +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3357814	NM_004036.5(ADCY3):c.1456G>A (p.Gly486Ser)	ADCY3 (G245S +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3357750	NM_004036.5(ADCY3):c.2233G>A (p.Gly745Ser)	ADCY3 (G504S +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3357666	NM_004036.5(ADCY3):c.1116C>T (p.Cys372=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357642	NM_004036.5(ADCY3):c.642G>A (p.Gln214=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357620	NM_004036.5(ADCY3):c.1991T>G (p.Phe664Cys)	ADCY3 (F423C +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3357616	NM_004036.5(ADCY3):c.567C>T (p.Pro189=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357575	NM_004036.5(ADCY3):c.3303G>A (p.Val1101=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3357491	NM_004036.5(ADCY3):c.1365C>T (p.His455=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357401	NM_004036.5(ADCY3):c.2704C>T (p.Arg902Cys)	ADCY3 (R661C +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3357374	NM_004036.5(ADCY3):c.702G>T (p.Leu234=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3357334	NM_004036.5(ADCY3):c.3423G>A (p.Val1141=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3357312	NM_004036.5(ADCY3):c.675+9T>C	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3357303	NM_004036.5(ADCY3):c.1924G>A (p.Val642Ile)	ADCY3 (V401I +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3357222	NM_004036.5(ADCY3):c.1069-8C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3357193	NM_004036.5(ADCY3):c.2464G>A (p.Gly822Arg)	ADCY3 (G581R +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3357187	NM_004036.5(ADCY3):c.35A>G (p.Tyr12Cys)	ADCY3 (Y12C)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3357170	NM_004036.5(ADCY3):c.1731G>A (p.Val577=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357081	NM_004036.5(ADCY3):c.2595G>C (p.Arg865=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3357023	NM_004036.5(ADCY3):c.1048C>T (p.Arg350Cys)	ADCY3 (R109C +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356988	NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)	ADCY3, CENPO (R1009fs +5 more)	Microsatellite (frameshift variant +2 more)	ADCY3-related disorder	GLikely pathogenic
Select item 3356885	NM_004036.5(ADCY3):c.2905C>T (p.Arg969Trp)	ADCY3 (R728W +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356737	NM_004036.5(ADCY3):c.2310G>A (p.Gln770=)	ADCY3	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3356696	NM_004036.5(ADCY3):c.3133_3134dup (p.Asn1045fs)	ADCY3, CENPO (N1045fs +5 more)	Duplication (frameshift variant +2 more)	ADCY3-related disorder	GLikely pathogenic
Select item 3356682	NM_004036.5(ADCY3):c.2541C>T (p.Phe847=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3356639	NM_004036.5(ADCY3):c.3253-8C>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3356526	NM_004036.5(ADCY3):c.1235G>C (p.Arg412Pro)	ADCY3 (R171P +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356461	NM_004036.5(ADCY3):c.2737-7T>G	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3356406	NM_004036.5(ADCY3):c.117_120dup (p.Arg41fs)	ADCY3 (R41fs)	Duplication (frameshift variant)	ADCY3-related disorder	GUncertain significance
Select item 3356394	NM_004036.5(ADCY3):c.1571G>C (p.Ser524Thr)	ADCY3 (S283T +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356380	NM_004036.5(ADCY3):c.362T>A (p.Leu121His)	ADCY3 (L121H)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356366	NM_004036.5(ADCY3):c.1789C>A (p.Arg597=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3356328	NM_004036.5(ADCY3):c.1632G>T (p.Thr544=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3356297	NM_004036.5(ADCY3):c.1772A>G (p.Asn591Ser)	ADCY3 (N350S +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3356107	NM_004036.5(ADCY3):c.725T>C (p.Met242Thr)	ADCY3 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3355921	NM_004036.5(ADCY3):c.956+9G>C	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3355860	NM_004036.5(ADCY3):c.36C>T (p.Tyr12=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3355832	NM_004036.5(ADCY3):c.2013C>A (p.Leu671=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3355765	NM_004036.5(ADCY3):c.3366G>A (p.Arg1122=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3355427	NM_004036.5(ADCY3):c.2578-10G>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3355264	NM_004036.5(ADCY3):c.2508G>A (p.Val836=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3355194	NM_004036.5(ADCY3):c.1332G>T (p.Lys444Asn)	ADCY3 (K203N +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3355155	NM_004036.5(ADCY3):c.952G>A (p.Val318Ile)	ADCY3 (V318I +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3355138	NM_004036.5(ADCY3):c.1299C>T (p.Asp433=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3355046	NM_004036.5(ADCY3):c.2261A>G (p.Tyr754Cys)	ADCY3 (Y513C +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3355036	NM_004036.5(ADCY3):c.2251C>A (p.Pro751Thr)	ADCY3 (P510T +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3355002	NM_004036.5(ADCY3):c.489C>T (p.His163=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3354951	NM_004036.5(ADCY3):c.2578-8G>A	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3354941	NM_004036.5(ADCY3):c.956+4C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3354825	NM_004036.5(ADCY3):c.3306G>A (p.Arg1102=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3354773	NM_004036.5(ADCY3):c.2573G>A (p.Arg858His)	ADCY3 (R617H +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3354649	NM_004036.5(ADCY3):c.3364C>T (p.Arg1122Trp)	ADCY3, CENPO (R1076W +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3354617	NM_004036.5(ADCY3):c.1242G>T (p.Gly414=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3354599	NM_004036.5(ADCY3):c.1204C>T (p.Arg402Trp)	ADCY3 (R161W +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3354594	NM_004036.5(ADCY3):c.1481C>T (p.Ala494Val)	ADCY3 (A253V +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3354583	NM_004036.5(ADCY3):c.1606G>A (p.Gly536Arg)	ADCY3 (G295R +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3354543	NM_004036.5(ADCY3):c.2280G>A (p.Leu760=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3354524	NM_004036.5(ADCY3):c.681G>A (p.Leu227=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3354510	NM_004036.5(ADCY3):c.2055+1G>C	ADCY3	Single nucleotide variant (splice donor variant)	ADCY3-related disorder	GLikely pathogenic
Select item 3354502	NM_004036.5(ADCY3):c.1263G>A (p.Leu421=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3354393	NM_004036.5(ADCY3):c.2432+10A>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3354311	NM_004036.5(ADCY3):c.1494G>T (p.Glu498Asp)	ADCY3 (E257D +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3354111	NM_004036.5(ADCY3):c.1702C>T (p.Arg568Cys)	ADCY3 (R327C +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3354081	NM_004036.5(ADCY3):c.469C>T (p.Leu157=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3354053	NM_004036.5(ADCY3):c.1085G>A (p.Arg362Gln)	ADCY3 (R121Q +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353994	NM_004036.5(ADCY3):c.2742G>A (p.Leu914=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3353899	NM_004036.5(ADCY3):c.2528C>T (p.Thr843Met)	ADCY3 (T602M +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3353874	NM_004036.5(ADCY3):c.755G>A (p.Arg252His)	ADCY3 (R11H +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353796	NM_004036.5(ADCY3):c.2334G>A (p.Thr778=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3353784	NM_004036.5(ADCY3):c.1892A>G (p.Gln631Arg)	ADCY3 (Q390R +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353727	NM_004036.5(ADCY3):c.666G>A (p.Leu222=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3353717	NM_004036.5(ADCY3):c.1806-8C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3353698	NM_004036.5(ADCY3):c.1947C>T (p.Val649=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3353635	NM_004036.5(ADCY3):c.3307C>T (p.Arg1103Ter)	ADCY3, CENPO (R1057* +4 more)	Single nucleotide variant (nonsense +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3353516	NM_004036.5(ADCY3):c.160C>A (p.Arg54=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3353384	NM_004036.5(ADCY3):c.3325AAGGGG[3] (p.Gly1112_Glu1113insLysGly)	ADCY3, CENPO	Microsatellite (inframe_insertion +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3353351	NM_004036.5(ADCY3):c.1359C>T (p.Arg453=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3353337	NM_004036.5(ADCY3):c.500A>G (p.Asp167Gly)	ADCY3 (D167G)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353212	NM_004036.5(ADCY3):c.1205G>A (p.Arg402Gln)	ADCY3 (R161Q +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353158	NM_004036.5(ADCY3):c.395A>G (p.Asp132Gly)	ADCY3 (D132G)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353135	NM_004036.5(ADCY3):c.1235G>A (p.Arg412His)	ADCY3 (R171H +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353122	NM_004036.5(ADCY3):c.1345G>A (p.Gly449Ser)	ADCY3 (G208S +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3353087	NM_004036.5(ADCY3):c.1197-4G>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3353055	NM_004036.5(ADCY3):c.492G>T (p.Ala164=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3353041	NM_004036.5(ADCY3):c.1533+7_1533+8insG	ADCY3	Insertion (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3352970	NM_004036.5(ADCY3):c.1666G>A (p.Asp556Asn)	ADCY3 (D315N +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance

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