ClinVar for Gene (Select 120227) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2426825	NC_000011.9:g.(?_14899668)_(14902334_?)dup	CYP2R1	Duplication	not provided	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 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 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 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 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 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
Select item 2260893	NM_024514.5(CYP2R1):c.1196C>G (p.Thr399Arg)	CYP2R1, PDE3B (T384R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233339	NM_024514.5(CYP2R1):c.1397T>C (p.Leu466Pro)	CYP2R1, PDE3B (L233P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2193872	NM_024514.5(CYP2R1):c.1280A>G (p.Asp427Gly)	CYP2R1, PDE3B (D101G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2188696	NM_024514.5(CYP2R1):c.615C>T (p.Thr205=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2179637	NM_024514.5(CYP2R1):c.14G>C (p.Trp5Ser)	CYP2R1, PDE3B (W5S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2178298	NM_024514.5(CYP2R1):c.186C>T (p.Pro62=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172123	NM_024514.5(CYP2R1):c.582C>G (p.Ile194Met)	CYP2R1, PDE3B (I140M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2171361	NM_024514.5(CYP2R1):c.885C>T (p.Phe295=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2160764	NM_024514.5(CYP2R1):c.1142A>G (p.His381Arg)	CYP2R1, PDE3B (H148R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2145574	NM_024514.5(CYP2R1):c.1001-9C>G	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2138093	NM_024514.5(CYP2R1):c.1351G>A (p.Glu451Lys)	CYP2R1, PDE3B (E125K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127312	NM_024514.5(CYP2R1):c.1436C>A (p.Pro479Gln)	CYP2R1, PDE3B (P246Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121402	NM_024514.5(CYP2R1):c.54C>T (p.Leu18=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117407	NM_024514.5(CYP2R1):c.294C>A (p.Cys98Ter)	CYP2R1, PDE3B (C83* +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 2101242	NM_024514.5(CYP2R1):c.699A>G (p.Pro233=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2092937	NM_024514.5(CYP2R1):c.1232A>G (p.Glu411Gly)	CYP2R1, PDE3B (E396G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084757	NM_024514.5(CYP2R1):c.40C>G (p.Leu14Val)	CYP2R1, PDE3B (L14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081014	NM_024514.5(CYP2R1):c.225+20C>T	CYP2R1, LOC130005371 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068341	NM_024514.5(CYP2R1):c.325A>G (p.Arg109Gly)	CYP2R1, PDE3B (R55G +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2067369	NM_024514.5(CYP2R1):c.661G>A (p.Ala221Thr)	CYP2R1, PDE3B (A173T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2067311	NM_024514.5(CYP2R1):c.1147A>G (p.Thr383Ala)	PDE3B, CYP2R1 (T335A +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2064356	NM_024514.5(CYP2R1):c.162C>T (p.Ser54=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2060962	NM_024514.5(CYP2R1):c.577C>G (p.Leu193Val)	PDE3B, CYP2R1 (L178V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2042908	NM_024514.5(CYP2R1):c.1482C>T (p.Tyr494=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027652	NM_024514.5(CYP2R1):c.237A>G (p.Leu79=)	CYP2R1, PDE3B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2016123	NM_024514.5(CYP2R1):c.1498A>T (p.Arg500Ter)	CYP2R1, PDE3B (R452* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2015214	NM_024514.5(CYP2R1):c.1000+17T>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004924	NM_024514.5(CYP2R1):c.58C>G (p.Leu20Val)	CYP2R1, PDE3B (L20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996774	NM_024514.5(CYP2R1):c.806A>G (p.Lys269Arg)	CYP2R1, PDE3B (K154R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1991099	NM_024514.5(CYP2R1):c.1341T>C (p.His447=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974460	NM_024514.5(CYP2R1):c.1001-20G>A	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973812	NM_024514.5(CYP2R1):c.225+11G>A	CYP2R1, LOC130005371 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966066	NM_024514.5(CYP2R1):c.226-10C>T	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960174	NM_024514.5(CYP2R1):c.192C>T (p.Val64=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959247	NM_024514.5(CYP2R1):c.1330+20G>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951401	NM_024514.5(CYP2R1):c.711C>T (p.Ile237=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1950230	NM_024514.5(CYP2R1):c.169G>T (p.Ala57Ser)	CYP2R1, PDE3B (A57S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1950218	NM_024514.5(CYP2R1):c.289G>T (p.Glu97Ter)	CYP2R1, PDE3B (E49* +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1939745	NM_024514.5(CYP2R1):c.112G>A (p.Gly38Ser)	CYP2R1, PDE3B (G38S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938520	NM_024514.5(CYP2R1):c.1452G>A (p.Arg484=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929675	NM_024514.5(CYP2R1):c.628_629del (p.Met210fs)	CYP2R1, PDE3B (M210fs +4 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1928765	NM_024514.5(CYP2R1):c.966G>A (p.Ala322=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1926241	NM_024514.5(CYP2R1):c.391C>T (p.Arg131Ter)	CYP2R1, PDE3B (R83* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1919558	NM_024514.5(CYP2R1):c.17G>C (p.Arg6Thr)	CYP2R1, PDE3B (R6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918882	NM_024514.5(CYP2R1):c.744A>C (p.Arg248Ser)	CYP2R1, PDE3B (R200S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1912325	NM_024514.5(CYP2R1):c.272G>A (p.Gly91Asp)	CYP2R1, PDE3B (G43D +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1909715	NM_024514.5(CYP2R1):c.132_140del (p.Gly45_Pro47del)	CYP2R1, PDE3B	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1903764	NM_024514.5(CYP2R1):c.1331-19A>G	PDE3B, CYP2R1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897257	NM_024514.5(CYP2R1):c.367+14C>T	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1714746	NM_024514.5(CYP2R1):c.1054T>A (p.Trp352Arg)	CYP2R1, PDE3B (W119R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1693599	NM_024514.5(CYP2R1):c.225+1110A>G	CYP2R1, PDE3B	Single nucleotide variant (5 prime UTR variant +2 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1672915	NM_024514.5(CYP2R1):c.834T>C (p.Asp278=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637925	NM_024514.5(CYP2R1):c.1330+17G>A	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1623257	NM_024514.5(CYP2R1):c.1000+18_1000+20del	CYP2R1, PDE3B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1607021	NM_024514.5(CYP2R1):c.955C>T (p.Leu319=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605101	NM_024514.5(CYP2R1):c.225+10C>T	CYP2R1, LOC130005371 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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