"Invitae"[submitter] AND "CYP19A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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
Select item 1434482	NM_000103.4(CYP19A1):c.1289T>C (p.Phe430Ser)	CYP19A1, MIR4713HG +1 more (F430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744523	NM_000103.4(CYP19A1):c.1287A>G (p.Pro429=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668186	NM_000103.4(CYP19A1):c.1284G>A (p.Gln428=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745787	NM_000103.4(CYP19A1):c.1281T>C (p.Phe427=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837461	NM_000103.4(CYP19A1):c.1278C>T (p.Tyr426=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621795	NM_000103.4(CYP19A1):c.1272T>C (p.Tyr424=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532855	NM_000103.4(CYP19A1):c.1266T>C (p.Val422=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864859	NM_000103.4(CYP19A1):c.1264-4A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113855	NM_000103.4(CYP19A1):c.1264-4A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792896	NM_000103.4(CYP19A1):c.1264-6del	CYP19A1, MIR4713HG +1 more	Deletion (intron variant)	not provided	GBenign
Select item 3020748	NM_000103.4(CYP19A1):c.1264-7T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023363	NM_000103.4(CYP19A1):c.1264-8T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693998	NM_000103.4(CYP19A1):c.1264-18G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627917	NM_000103.4(CYP19A1):c.1263+10C>G	MIR4713HG, CYP19A1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736199	NM_000103.4(CYP19A1):c.1263+8C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1349789	NM_000103.4(CYP19A1):c.1263+5G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2780299	NM_000103.4(CYP19A1):c.1263+1G>A	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (splice donor variant)	Aromatase excess syndrome +1 more	GPathogenic/Likely pathogenic
Select item 930859	NM_000103.4(CYP19A1):c.1263+1G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1113987	NM_000103.4(CYP19A1):c.1260G>A (p.Lys420=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897516	NM_000103.4(CYP19A1):c.1257A>C (p.Ala419=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897517	NM_000103.4(CYP19A1):c.1251T>C (p.Asn417=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897518	NM_000103.4(CYP19A1):c.1248A>G (p.Glu416=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112684	NM_000103.4(CYP19A1):c.1245T>C (p.Leu415=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562062	NM_000103.4(CYP19A1):c.1230C>G (p.Pro410=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 886339	NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 748618	NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 990905	NM_000103.4(CYP19A1):c.1221C>T (p.Phe407=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090103	NM_000103.4(CYP19A1):c.1218T>C (p.Phe406=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540777	NM_000103.4(CYP19A1):c.1215G>A (p.Glu405=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084181	NM_000103.4(CYP19A1):c.1212C>T (p.Leu404=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798914	NM_000103.4(CYP19A1):c.1212C>A (p.Leu404=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127949	NM_000103.4(CYP19A1):c.1209A>G (p.Arg403=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147247	NM_000103.4(CYP19A1):c.1206C>T (p.His402=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1457200	NM_000103.4(CYP19A1):c.1200G>A (p.Arg400=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020124	NM_000103.4(CYP19A1):c.1194T>C (p.Ile398=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086841	NM_000103.4(CYP19A1):c.1188G>A (p.Leu396=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020344	NM_000103.4(CYP19A1):c.1179C>T (p.Asn393=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983048	NM_000103.4(CYP19A1):c.1176A>C (p.Thr392=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126641	NM_000103.4(CYP19A1):c.1176A>G (p.Thr392=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615530	NM_000103.4(CYP19A1):c.1173G>A (p.Gly391=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558026	NM_000103.4(CYP19A1):c.1170G>A (p.Lys390=)	PIRC66, CYP19A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 639516	NM_000103.4(CYP19A1):c.1165A>T (p.Lys389Ter)	MIR4713HG, PIRC66 +1 more (K389*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2164254	NM_000103.4(CYP19A1):c.1164G>A (p.Val388=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095830	NM_000103.4(CYP19A1):c.1155C>T (p.Gly385=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576670	NM_000103.4(CYP19A1):c.1152T>C (p.Asp384=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049964	NM_000103.4(CYP19A1):c.1149C>A (p.Ile383=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590775	NM_000103.4(CYP19A1):c.1149C>T (p.Ile383=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077519	NM_000103.4(CYP19A1):c.1143T>C (p.Asp381=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909691	NM_000103.4(CYP19A1):c.1137A>G (p.Glu379=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648300	NM_000103.4(CYP19A1):c.1134A>G (p.Leu378=)	PIRC66, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383947	NM_000103.4(CYP19A1):c.1126A>T (p.Lys376Ter)	CYP19A1, MIR4713HG +1 more (K376*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1664412	NM_000103.4(CYP19A1):c.1125C>T (p.Arg375=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128369	NM_000103.4(CYP19A1):c.1114T>C (p.Leu372=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738287	NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1125087	NM_000103.4(CYP19A1):c.1107C>T (p.Val369=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765676	NM_000103.4(CYP19A1):c.1107C>A (p.Val369=)	PIRC66, CYP19A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1155109	NM_000103.4(CYP19A1):c.1098C>T (p.Tyr366=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957413	NM_000103.4(CYP19A1):c.1093C>A (p.Arg365=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075605	NM_000103.4(CYP19A1):c.1085dup (p.Ser363fs)	CYP19A1, MIR4713HG +1 more (S363fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1957811	NM_000103.4(CYP19A1):c.1077C>T (p.Phe359=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 653853	NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)	CYP19A1, MIR4713HG +1 more (L353fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2000107	NM_000103.4(CYP19A1):c.1058T>A (p.Leu353Ter)	CYP19A1, MIR4713HG +1 more (L353*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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