CYP19A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 887214	NM_000103.4(CYP19A1):c.*2723A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316440	NM_000103.4(CYP19A1):c.*2645dup	CYP19A1, MIR4713HG +1 more	Duplication (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887215	NM_000103.4(CYP19A1):c.*2632T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 887216	NM_000103.4(CYP19A1):c.*2624C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 887217	NM_000103.4(CYP19A1):c.*2607A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888469	NM_000103.4(CYP19A1):c.*2589C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888470	NM_000103.4(CYP19A1):c.*2536C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888471	NM_000103.4(CYP19A1):c.*2519T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316441	NM_000103.4(CYP19A1):c.*2511G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 888472	NM_000103.4(CYP19A1):c.*2497T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316442	NM_000103.4(CYP19A1):c.*2467G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316443	NM_000103.4(CYP19A1):c.*2274A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316444	NM_000103.4(CYP19A1):c.2258_2259insA	CYP19A1, MIR4713HG +1 more	Insertion (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316445	NM_000103.4(CYP19A1):c.*2257A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316446	NM_000103.4(CYP19A1):c.*2192T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316447	NM_000103.4(CYP19A1):c.*2170G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316448	NM_000103.4(CYP19A1):c.*2155T>C	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884245	NM_000103.4(CYP19A1):c.*2126G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884246	NM_000103.4(CYP19A1):c.*2086G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884247	NM_000103.4(CYP19A1):c.*2067T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316449	NM_000103.4(CYP19A1):c.*2039G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316450	NM_000103.4(CYP19A1):c.*2032G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886275	NM_000103.4(CYP19A1):c.*1889A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886276	NM_000103.4(CYP19A1):c.*1888A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316451	NM_000103.4(CYP19A1):c.*1888A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 886277	NM_000103.4(CYP19A1):c.*1878T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316452	NM_000103.4(CYP19A1):c.*1877T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886278	NM_000103.4(CYP19A1):c.*1833C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316453	NM_000103.4(CYP19A1):c.*1608C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316454	NM_000103.4(CYP19A1):c.*1601G>A	PIRC66, CYP19A1 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 887272	NM_000103.4(CYP19A1):c.*1545G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887273	NM_000103.4(CYP19A1):c.*1441G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887274	NM_000103.4(CYP19A1):c.*1381C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887275	NM_000103.4(CYP19A1):c.*1364C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316455	NM_000103.4(CYP19A1):c.*1296T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 887276	NM_000103.4(CYP19A1):c.*1190C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316456	NM_000103.4(CYP19A1):c.*1069C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316457	NM_000103.4(CYP19A1):c.*1019C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316458	NM_000103.4(CYP19A1):c.*858C>T	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316459	NM_000103.4(CYP19A1):c.*747G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888528	NM_000103.4(CYP19A1):c.*646C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316460	NM_000103.4(CYP19A1):c.*638G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888529	NM_000103.4(CYP19A1):c.*543C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316461	NM_000103.4(CYP19A1):c.*483G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316462	NM_000103.4(CYP19A1):c.*460G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316463	NM_000103.4(CYP19A1):c.*280A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 884314	NM_000103.4(CYP19A1):c.*240C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316465	NM_000103.4(CYP19A1):c.*191C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316464	NM_000103.4(CYP19A1):c.*191del	CYP19A1, MIR4713HG +1 more	Deletion (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316466	NM_000103.4(CYP19A1):c.*166T>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316467	NM_000103.4(CYP19A1):c.*161T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GBenign
Select item 884315	NM_000103.4(CYP19A1):c.*125T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316468	NM_000103.4(CYP19A1):c.*108A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 884316	NM_000103.4(CYP19A1):c.*78G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886337	NM_000103.4(CYP19A1):c.*53C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316469	NM_000103.4(CYP19A1):c.*19C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 316470	NM_000103.4(CYP19A1):c.*9G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 1645488	NM_000103.4(CYP19A1):c.1512G>A (p.Ter504=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298611	NM_000103.4(CYP19A1):c.1497G>T (p.Arg499Ser)	CYP19A1, MIR4713HG +1 more (R499S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1661588	NM_000103.4(CYP19A1):c.1497G>A (p.Arg499=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248532	NM_000103.4(CYP19A1):c.1492G>A (p.Asp498Asn)	CYP19A1, MIR4713HG +1 more (D498N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886338	NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1598326	NM_000103.4(CYP19A1):c.1485A>G (p.Arg495=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715214	NM_000103.4(CYP19A1):c.1479C>T (p.Thr493=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964933	NM_000103.4(CYP19A1):c.1462C>T (p.Leu488=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153743	NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130252	NM_000103.4(CYP19A1):c.1440C>T (p.His480=)	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140804	NM_000103.4(CYP19A1):c.1433C>T (p.Ser478Phe)	PIRC66, CYP19A1 +1 more (S478F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1106853	NM_000103.4(CYP19A1):c.1431G>A (p.Leu477=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990252	NM_000103.4(CYP19A1):c.1425C>T (p.His475=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005493	NM_000103.4(CYP19A1):c.1419G>A (p.Lys473=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897711	NM_000103.4(CYP19A1):c.1416G>A (p.Gln472=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751623	NM_000103.4(CYP19A1):c.1413A>T (p.Ile471=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006236	NM_000103.4(CYP19A1):c.1410C>T (p.Ser470=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122428	NM_000103.4(CYP19A1):c.1404T>C (p.Val468=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795334	NM_000103.4(CYP19A1):c.1387T>C (p.Leu463=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118327	NM_000103.4(CYP19A1):c.1386A>T (p.Thr462=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111830	NM_000103.4(CYP19A1):c.1386A>G (p.Thr462=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917386	NM_000103.4(CYP19A1):c.1383G>A (p.Lys461=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750997	NM_000103.4(CYP19A1):c.1380G>A (p.Val460=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316471	NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met)	CYP19A1, MIR4713HG +1 more (V460M)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 3018284	NM_000103.4(CYP19A1):c.1377C>T (p.His459=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736212	NM_000103.4(CYP19A1):c.1374C>T (p.Phe458=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990253	NM_000103.4(CYP19A1):c.1370G>A (p.Arg457Gln)	CYP19A1, MIR4713HG +1 more (R457Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1373867	NM_000103.4(CYP19A1):c.1365G>A (p.Leu455=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917534	NM_000103.4(CYP19A1):c.1363C>T (p.Leu455=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978129	NM_000103.4(CYP19A1):c.1359A>T (p.Thr453=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794908	NM_000103.4(CYP19A1):c.1353C>T (p.Leu451=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038672	NM_000103.4(CYP19A1):c.1350C>T (p.Ile450=)	MIR4713HG, CYP19A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118328	NM_000103.4(CYP19A1):c.1347C>T (p.Ala449=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597639	NM_000103.4(CYP19A1):c.1326C>A (p.Ile442=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121257	NM_000103.4(CYP19A1):c.1326C>T (p.Ile442=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416700	NM_000103.4(CYP19A1):c.1323C>T (p.Tyr441=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647829	NM_000103.4(CYP19A1):c.1320G>A (p.Lys440=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842510	NM_000103.4(CYP19A1):c.1317A>C (p.Gly439=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17816	NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)	CYP19A1, MIR4713HG +1 more (C437Y)	Single nucleotide variant (missense variant)	Aromatase deficiency	GPathogenic
Select item 17815	NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)	CYP19A1, MIR4713HG +1 more (R435C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1903136	NM_000103.4(CYP19A1):c.1293C>T (p.Gly431=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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