ClinVar for Gene (Select 5140) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305384	NM_000922.4(PDE3B):c.572A>C (p.Glu191Ala)	PDE3B (E191A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305383	NM_000922.4(PDE3B):c.2326G>C (p.Asp776His)	PDE3B (D725H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305381	NM_000922.4(PDE3B):c.1208C>T (p.Pro403Leu)	PDE3B (P481L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305380	NM_000922.4(PDE3B):c.230G>T (p.Arg77Leu)	PDE3B (R77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305379	NM_000922.4(PDE3B):c.151C>T (p.Leu51Phe)	PDE3B (L51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305378	NM_000922.4(PDE3B):c.311G>A (p.Gly104Glu)	PDE3B (G104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305377	NM_000922.4(PDE3B):c.67C>T (p.Pro23Ser)	PDE3B (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270607	NM_024514.5(CYP2R1):c.1478C>G (p.Pro493Arg)	CYP2R1, PDE3B (P378R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270606	NM_024514.5(CYP2R1):c.77G>C (p.Gly26Ala)	CYP2R1, PDE3B (G26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210694	NM_000922.4(PDE3B):c.802C>G (p.Gln268Glu)	PDE3B (Q268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210693	NM_000922.4(PDE3B):c.77G>A (p.Ser26Asn)	PDE3B (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210692	NM_000922.4(PDE3B):c.748G>T (p.Gly250Cys)	PDE3B (G250C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210691	NM_000922.4(PDE3B):c.709C>G (p.Leu237Val)	PDE3B (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210690	NM_000922.4(PDE3B):c.452C>G (p.Ser151Cys)	PDE3B (S151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210689	NM_000922.4(PDE3B):c.3118A>G (p.Met1040Val)	PDE3B (M1040V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210688	NM_000922.4(PDE3B):c.272C>T (p.Ala91Val)	PDE3B (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210687	NM_000922.4(PDE3B):c.2594G>T (p.Arg865Leu)	PDE3B (R943L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210686	NM_000922.4(PDE3B):c.2594G>A (p.Arg865His)	PDE3B (R865H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210685	NM_000922.4(PDE3B):c.251C>T (p.Ala84Val)	PDE3B (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210684	NM_000922.4(PDE3B):c.2438C>G (p.Ala813Gly)	PDE3B (A813G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210683	NM_000922.4(PDE3B):c.230G>C (p.Arg77Pro)	PDE3B (R77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210682	NM_000922.4(PDE3B):c.2243C>A (p.Ala748Glu)	PDE3B (A826E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210681	NM_000922.4(PDE3B):c.2189G>C (p.Gly730Ala)	PDE3B (G730A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210680	NM_000922.4(PDE3B):c.140T>G (p.Phe47Cys)	PDE3B (F47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079578	NM_024514.5(CYP2R1):c.1424A>G (p.His475Arg)	CYP2R1, PDE3B (H149R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079577	NM_024514.5(CYP2R1):c.1151C>G (p.Ser384Cys)	CYP2R1, PDE3B (S330C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079576	NM_024514.5(CYP2R1):c.1148C>T (p.Thr383Ile)	CYP2R1, PDE3B (T150I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033571	NM_024514.5(CYP2R1):c.45C>A (p.Gly15=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	CYP2R1-related disorder	GLikely benign
Select item 3022350	NM_024514.5(CYP2R1):c.1270C>T (p.Arg424Ter)	CYP2R1, PDE3B (R309* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3016792	NM_024514.5(CYP2R1):c.1322T>C (p.Phe441Ser)	CYP2R1, PDE3B (F326S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011265	NM_024514.5(CYP2R1):c.798C>T (p.Val266=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3010938	NM_024514.5(CYP2R1):c.1479C>T (p.Pro493=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009074	NM_024514.5(CYP2R1):c.36G>C (p.Ala12=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993511	NM_024514.5(CYP2R1):c.219C>A (p.Tyr73Ter)	CYP2R1, PDE3B (Y73*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2991002	NM_024514.5(CYP2R1):c.225+18C>T	CYP2R1, LOC130005371 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968728	NM_024514.5(CYP2R1):c.126G>A (p.Gly42=)	PDE3B, CYP2R1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964676	NM_024514.5(CYP2R1):c.1298C>G (p.Ala433Gly)	CYP2R1, PDE3B (A379G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959209	NM_024514.5(CYP2R1):c.981C>A (p.Ala327=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2918126	NM_024514.5(CYP2R1):c.226-9_226-5del	CYP2R1, PDE3B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2901322	NM_024514.5(CYP2R1):c.1203T>A (p.Ile401=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901225	NM_024514.5(CYP2R1):c.36G>A (p.Ala12=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897896	NM_024514.5(CYP2R1):c.733C>T (p.Gln245Ter)	CYP2R1, PDE3B (Q130* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2883470	NM_024514.5(CYP2R1):c.1206A>C (p.Thr402=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873273	NM_024514.5(CYP2R1):c.872del (p.Pro291fs)	CYP2R1, PDE3B (P237fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2842794	NM_024514.5(CYP2R1):c.1077T>A (p.Pro359=)	PDE3B, CYP2R1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836692	NM_024514.5(CYP2R1):c.192C>G (p.Val64=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802287	NM_024514.5(CYP2R1):c.78G>A (p.Gly26=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794712	NM_024514.5(CYP2R1):c.861T>G (p.Gly287=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2793878	NM_024514.5(CYP2R1):c.226-16T>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790632	NM_024514.5(CYP2R1):c.165G>C (p.Leu55=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751033	NM_024514.5(CYP2R1):c.882_897del (p.Thr294_Phe295insTer)	CYP2R1, PDE3B	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2693212	NM_024514.5(CYP2R1):c.1500A>G (p.Arg500=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620602	NM_000922.4(PDE3B):c.823C>T (p.His275Tyr)	PDE3B (H275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603388	NM_000922.4(PDE3B):c.88G>C (p.Gly30Arg)	PDE3B (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596967	NM_000922.4(PDE3B):c.1373G>A (p.Arg458His)	PDE3B (R536H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580540	NM_024514.5(CYP2R1):c.1427A>T (p.Glu476Val)	CYP2R1, PDE3B (E150V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559698	NM_000922.4(PDE3B):c.1576A>G (p.Thr526Ala)	PDE3B (T604A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558780	NM_000922.4(PDE3B):c.35G>T (p.Arg12Leu)	PDE3B (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554404	NM_024514.5(CYP2R1):c.1303A>G (p.Lys435Glu)	CYP2R1, PDE3B (K202E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551577	NM_000922.4(PDE3B):c.1832A>C (p.Lys611Thr)	PDE3B (K611T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548201	NM_000922.4(PDE3B):c.1685C>T (p.Pro562Leu)	PDE3B (P562L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547321	NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser)	PDE3B (C203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545825	NM_000922.4(PDE3B):c.1079G>C (p.Arg360Pro)	PDE3B (R360P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533332	NM_024514.5(CYP2R1):c.203A>C (p.Lys68Thr)	CYP2R1, PDE3B (K68T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507825	NM_000922.4(PDE3B):c.67C>A (p.Pro23Thr)	PDE3B (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470790	NM_024514.5(CYP2R1):c.899T>G (p.Leu300Arg)	CYP2R1, PDE3B (L185R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2418462	NM_024514.5(CYP2R1):c.1398T>G (p.Leu466=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416170	NM_024514.5(CYP2R1):c.1205C>T (p.Thr402Ile)	CYP2R1, PDE3B (T169I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414155	NM_024514.5(CYP2R1):c.121C>A (p.Pro41Thr)	CYP2R1, PDE3B (P41T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2405049	NM_000922.4(PDE3B):c.357G>C (p.Leu119Phe)	PDE3B (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399470	NM_000922.4(PDE3B):c.1519G>T (p.Ala507Ser)	PDE3B (A456S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397778	NM_000922.4(PDE3B):c.649C>T (p.Arg217Trp)	PDE3B (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392116	NM_000922.4(PDE3B):c.1844A>G (p.Lys615Arg)	PDE3B (K615R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389936	NM_000922.4(PDE3B):c.815C>T (p.Ala272Val)	PDE3B (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375771	NM_000922.4(PDE3B):c.2374T>C (p.Cys792Arg)	PDE3B (C741R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374820	NM_024514.5(CYP2R1):c.497A>G (p.Asn166Ser)	CYP2R1, PDE3B (N112S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374182	NM_000922.4(PDE3B):c.638C>G (p.Pro213Arg)	PDE3B (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361859	NM_000922.4(PDE3B):c.1604T>A (p.Ile535Lys)	PDE3B (I484K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357898	NM_000922.4(PDE3B):c.565C>A (p.Pro189Thr)	PDE3B (P189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357549	NM_000922.4(PDE3B):c.133C>T (p.Arg45Cys)	PDE3B (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351121	NM_000922.4(PDE3B):c.2378C>G (p.Ser793Cys)	PDE3B (S742C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349892	NM_000922.4(PDE3B):c.1486G>A (p.Val496Ile)	PDE3B (V445I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332099	NM_024514.5(CYP2R1):c.163C>G (p.Leu55Val)	CYP2R1, PDE3B (L55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325691	NM_000922.4(PDE3B):c.361C>T (p.Pro121Ser)	PDE3B (P121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321032	NM_000922.4(PDE3B):c.3106G>A (p.Glu1036Lys)	PDE3B (E1036K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308119	NM_000922.4(PDE3B):c.740T>C (p.Leu247Pro)	PDE3B (L247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303494	NM_000922.4(PDE3B):c.923A>G (p.Tyr308Cys)	PDE3B (Y308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299336	NM_000922.4(PDE3B):c.2858A>G (p.Glu953Gly)	PDE3B (E953G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294253	NM_000922.4(PDE3B):c.2340C>A (p.Asn780Lys)	PDE3B (N729K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288830	NM_000922.4(PDE3B):c.1136C>G (p.Ser379Cys)	PDE3B (S457C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288720	NM_024514.5(CYP2R1):c.1178C>T (p.Ser393Phe)	CYP2R1, PDE3B (S278F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288284	NM_000922.4(PDE3B):c.1142G>C (p.Arg381Pro)	PDE3B (R459P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288046	NM_000922.4(PDE3B):c.52G>A (p.Asp18Asn)	PDE3B (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285661	NM_000922.4(PDE3B):c.1818A>C (p.Glu606Asp)	PDE3B (E555D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284489	NM_000922.4(PDE3B):c.1168T>C (p.Phe390Leu)	PDE3B (F390L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281495	NM_024514.5(CYP2R1):c.850A>G (p.Met284Val)	CYP2R1, PDE3B (M169V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269424	NM_000922.4(PDE3B):c.74A>G (p.Glu25Gly)	PDE3B (E25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267429	NM_000922.4(PDE3B):c.1373G>C (p.Arg458Pro)	PDE3B (R536P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265742	NM_000922.4(PDE3B):c.392T>G (p.Phe131Cys)	PDE3B (F131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263146	NM_024514.5(CYP2R1):c.1291T>C (p.Tyr431His)	CYP2R1, PDE3B (Y431H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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