CYP2R1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	LOC130005370, LOC130005371 +14 more	Copy number gain	See cases	GUncertain significance
Select item 154135	GRCh38/hg38 11p15.2(chr11:14684722-15210307)x3	CALCA, CALCB +13 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 1334316	NM_024514.5(CYP2R1):c.1394T>G (p.Leu465Trp)	CYP2R1, PDE3B (L350W +2 more)	Single nucleotide variant (missense variant)	Low serum calcitriol	GUncertain significance
Select item 1391635	NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln)	CYP2R1, PDE3B (R340Q +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GUncertain significance
Select item 1385510	NM_024514.5(CYP2R1):c.1363C>T (p.Arg455Trp)	CYP2R1, PDE3B (R455W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1025990	NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg)	CYP2R1, PDE3B (G335R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1903764	NM_024514.5(CYP2R1):c.1331-19A>G	PDE3B, CYP2R1	Single nucleotide variant (intron variant)	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 1637925	NM_024514.5(CYP2R1):c.1330+17G>A	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1561214	NM_024514.5(CYP2R1):c.1330+16C>T	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 708207	NM_024514.5(CYP2R1):c.1276C>T (p.Leu426=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 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 2883470	NM_024514.5(CYP2R1):c.1206A>C (p.Thr402=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	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 2901322	NM_024514.5(CYP2R1):c.1203T>A (p.Ile401=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302522	NM_024514.5(CYP2R1):c.1198G>C (p.Val400Leu)	CYP2R1, PDE3B (V285L +2 more)	Single nucleotide variant (missense variant)	not provided	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 930898	NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr)	CYP2R1, PDE3B (I340T +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B	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 1008903	NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu)	CYP2R1, PDE3B (V274E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 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 1117562	NM_024514.5(CYP2R1):c.1146A>C (p.Ala382=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	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 429316	NM_024514.5(CYP2R1):c.1126C>T (p.Pro376Ser)	CYP2R1, PDE3B (P376S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029900	NM_024514.5(CYP2R1):c.1120dup (p.Ile374fs)	CYP2R1, PDE3B (I374fs +2 more)	Duplication (frameshift variant)	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 1167436	NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GBenign/Likely 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 1059302	NM_024514.5(CYP2R1):c.1011G>T (p.Gln337His)	CYP2R1, PDE3B (Q222H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749633	NM_024514.5(CYP2R1):c.1001-5G>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GLikely benign
Select item 2145574	NM_024514.5(CYP2R1):c.1001-9C>G	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	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 1195473	NM_024514.5(CYP2R1):c.1000+187T>A	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	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 2015214	NM_024514.5(CYP2R1):c.1000+17T>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 429315	NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr)	CYP2R1, PDE3B (I332T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1607021	NM_024514.5(CYP2R1):c.955C>T (p.Leu319=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936742	NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser)	CYP2R1, PDE3B (N263S +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GUncertain significance
Select item 1356309	NM_024514.5(CYP2R1):c.913G>A (p.Gly305Ser)	CYP2R1, PDE3B (G305S +2 more)	Single nucleotide variant (missense variant)	not provided	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 2751033	NM_024514.5(CYP2R1):c.882_897del (p.Thr294_Phe295insTer)	CYP2R1, PDE3B	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 735577	NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	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 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 1435363	NM_024514.5(CYP2R1):c.859G>A (p.Gly287Ser)	CYP2R1, PDE3B (G287S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218799	NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile)	CYP2R1, PDE3B (M284I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 418154	NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr)	CYP2R1, PDE3B (M284T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 1672915	NM_024514.5(CYP2R1):c.834T>C (p.Asp278=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 977185	NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)	CYP2R1, PDE3B (L142fs +2 more)	Duplication (frameshift variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic
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 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 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 1016554	NM_024514.5(CYP2R1):c.701G>A (p.Trp234Ter)	CYP2R1, PDE3B (W119* +2 more)	Single nucleotide variant (nonsense)	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 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 711063	NM_024514.5(CYP2R1):c.651T>C (p.Asn217=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 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 756930	NM_024514.5(CYP2R1):c.606T>C (p.Tyr202=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332743	NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter)	CYP2R1, PDE3B (R145* +2 more)	Single nucleotide variant (nonsense)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic/Likely pathogenic
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 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 1310664	NM_024514.5(CYP2R1):c.577C>A (p.Leu193Met)	CYP2R1, PDE3B (L139M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096127	NM_024514.5(CYP2R1):c.552G>A (p.Thr184=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304683	NM_024514.5(CYP2R1):c.551C>T (p.Thr184Met)	CYP2R1, PDE3B (T130M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 835914	NM_024514.5(CYP2R1):c.515A>G (p.Tyr172Cys)	CYP2R1, PDE3B (Y172C +2 more)	Single nucleotide variant (missense variant)	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 934633	NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys)	CYP2R1, PDE3B (S102C +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +2 more	GUncertain significance
Select item 1450676	NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)	CYP2R1, PDE3B (R145* +2 more)	Single nucleotide variant (nonsense)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic/Likely pathogenic
Select item 762264	NM_024514.5(CYP2R1):c.423A>G (p.Val141=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 957411	NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile)	CYP2R1, PDE3B (V87I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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