"Ambry Genetics"[submitter] AND "ADCY5"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081909	NM_183357.3(ADCY5):c.3764A>G (p.Asn1255Ser)	ADCY5 (N1255S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081905	NM_183357.3(ADCY5):c.3717C>T (p.Gly1239=)	ADCY5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1900009	NM_183357.3(ADCY5):c.3695C>T (p.Thr1232Met)	ADCY5 (T1257M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3269552	NM_183357.3(ADCY5):c.3689C>T (p.Ala1230Val)	ADCY5 (A1230V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269541	NM_183357.3(ADCY5):c.3688G>A (p.Ala1230Thr)	ADCY5 (A1230T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369340	NM_183357.3(ADCY5):c.3646G>A (p.Asp1216Asn)	ADCY5 (D1241N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069890	NM_183357.3(ADCY5):c.3457G>A (p.Asp1153Asn)	ADCY5 (D1153N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2558046	NM_183357.3(ADCY5):c.3302A>G (p.Asn1101Ser)	ADCY5 (N1101S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246788	NM_183357.3(ADCY5):c.3109C>T (p.Arg1037Trp)	ADCY5 (R687W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 2228812	NM_183357.3(ADCY5):c.2984C>T (p.Ser995Leu)	ADCY5 (S995L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970706	NM_183357.3(ADCY5):c.2976C>G (p.Ile992Met)	ADCY5 (I992M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3081870	NM_183357.3(ADCY5):c.2936A>C (p.Glu979Ala)	ADCY5 (E1004A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081864	NM_183357.3(ADCY5):c.2890G>A (p.Ala964Thr)	ADCY5 (A614T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063123	NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)	ADCY5 (A964S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2205799	NM_183357.3(ADCY5):c.2860C>T (p.Leu954Phe)	ADCY5 (L604F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450184	NM_183357.3(ADCY5):c.2758G>T (p.Ala920Ser)	ADCY5 (A920S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2076475	NM_183357.3(ADCY5):c.2615G>T (p.Ser872Ile)	ADCY5 (S522I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2302072	NM_183357.3(ADCY5):c.2575A>G (p.Arg859Gly)	ADCY5 (R509G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486153	NM_183357.3(ADCY5):c.2554A>C (p.Asn852His)	ADCY5 (N852H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286052	NM_183357.3(ADCY5):c.2446T>C (p.Phe816Leu)	ADCY5 (F466L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2903571	NM_183357.3(ADCY5):c.2377T>C (p.Tyr793His)	ADCY5 (Y443H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1453013	NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del)	ADCY5 (D409del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1384362	NM_183357.3(ADCY5):c.2116G>A (p.Ala706Thr)	ADCY5 (A706T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3081831	NM_183357.3(ADCY5):c.2057G>A (p.Gly686Asp)	ADCY5 (G686D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230131	NM_183357.3(ADCY5):c.2015C>T (p.Pro672Leu)	ADCY5 (P672L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1447056	NM_183357.3(ADCY5):c.1981C>T (p.Arg661Cys)	ADCY5 (R311C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2047528	NM_183357.3(ADCY5):c.1969G>A (p.Ala657Thr)	ADCY5 (A307T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 381222	NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)	ADCY5 (E634D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2252381	NM_183357.3(ADCY5):c.1879G>A (p.Glu627Lys)	ADCY5 (E277K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269593	NM_183357.3(ADCY5):c.1877G>A (p.Gly626Asp)	ADCY5 (G276D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522100	NM_183357.3(ADCY5):c.1646+1G>A	ADCY5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 208670	NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met)	ADCY5 (I475M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 521978	NM_183357.3(ADCY5):c.1312dup (p.Arg438fs)	ADCY5 (R438fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2608800	NM_183357.3(ADCY5):c.1312C>T (p.Arg438Cys)	ADCY5 (R88C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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
Select item 2554898	NM_183357.3(ADCY5):c.1184G>A (p.Cys395Tyr)	ADCY5 (C395Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239253	NM_183357.3(ADCY5):c.1134+31208G>A	ADCY5 (G22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246176	NM_183357.3(ADCY5):c.1036C>G (p.Arg346Gly)	ADCY5 (R346G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619225	NM_183357.3(ADCY5):c.1007T>C (p.Ile336Thr)	ADCY5 (I336T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3269515	NM_183357.3(ADCY5):c.1000T>G (p.Phe334Val)	ADCY5 (F334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218806	NM_183357.3(ADCY5):c.977C>T (p.Ser326Phe)	ADCY5 (S326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379204	NM_183357.3(ADCY5):c.973G>T (p.Ala325Ser)	ADCY5 (A325S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748208	NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr)	ADCY5 (A304T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2886377	NM_183357.3(ADCY5):c.808T>A (p.Tyr270Asn)	ADCY5 (Y270N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2308651	NM_183357.3(ADCY5):c.764T>A (p.Val255Asp)	ADCY5 (V255D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215388	NM_183357.3(ADCY5):c.667T>C (p.Ser223Pro)	ADCY5 (S223P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484373	NM_183357.3(ADCY5):c.611C>T (p.Ser204Phe)	ADCY5 (S204F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346447	NM_183357.3(ADCY5):c.602C>T (p.Ala201Val)	ADCY5 (A201V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200583	NM_183357.3(ADCY5):c.505G>A (p.Ala169Thr)	ADCY5 (A169T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1381207	NM_183357.3(ADCY5):c.467T>A (p.Val156Glu)	ADCY5 (V156E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1422107	NM_183357.3(ADCY5):c.463T>G (p.Ser155Ala)	ADCY5 (S155A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2239961	NM_183357.3(ADCY5):c.458C>T (p.Pro153Leu)	ADCY5 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543651	NM_183357.3(ADCY5):c.457C>T (p.Pro153Ser)	ADCY5 (P153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413937	NM_183357.3(ADCY5):c.455G>A (p.Arg152His)	ADCY5 (R152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2251107	NM_183357.3(ADCY5):c.437C>T (p.Ala146Val)	ADCY5 (A146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985504	NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs)	ADCY5 (S145fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521036	NM_183357.3(ADCY5):c.409_428del (p.Gly137fs)	ADCY5 (G137fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2234883	NM_183357.3(ADCY5):c.412G>C (p.Gly138Arg)	ADCY5 (G138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234882	NM_183357.3(ADCY5):c.409G>C (p.Gly137Arg)	ADCY5 (G137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234881	NM_183357.3(ADCY5):c.407G>C (p.Gly136Ala)	ADCY5 (G136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3081901	NM_183357.3(ADCY5):c.350G>A (p.Arg117Gln)	ADCY5 (R117Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 390053	NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr)	ADCY5 (A102T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3269531	NM_183357.3(ADCY5):c.262C>T (p.Pro88Ser)	ADCY5 (P88S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1439871	NM_183357.3(ADCY5):c.259G>T (p.Asp87Tyr)	ADCY5 (D87Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2017579	NM_183357.3(ADCY5):c.226G>C (p.Asp76His)	ADCY5 (D76H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2976520	NM_183357.3(ADCY5):c.215G>T (p.Arg72Leu)	ADCY5 (R72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1409336	NM_183357.3(ADCY5):c.146C>T (p.Ser49Phe)	ADCY5 (S49F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1598102	NM_183357.3(ADCY5):c.145T>G (p.Ser49Ala)	ADCY5 (S49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3081809	NM_183357.3(ADCY5):c.140G>C (p.Gly47Ala)	ADCY5 (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258192	NM_183357.3(ADCY5):c.67C>G (p.Arg23Gly)	ADCY5 (R23G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2526442	NM_183357.3(ADCY5):c.16A>G (p.Ser6Gly)	ADCY5 (S6G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 74