ClinVar for Gene (Select 1588) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3013476	NM_000103.4(CYP19A1):c.743+16T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012428	NM_000103.4(CYP19A1):c.297-20A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007696	NM_000103.4(CYP19A1):c.859-12C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 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 2996348	NM_000103.4(CYP19A1):c.145+10T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987679	NM_000103.4(CYP19A1):c.858+8C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987460	NM_000103.4(CYP19A1):c.462C>T (p.Gly154=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983495	NM_000103.4(CYP19A1):c.351C>G (p.Gly117=)	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 2981545	NM_000103.4(CYP19A1):c.451+17_451+20del	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2981179	NM_000103.4(CYP19A1):c.156C>T (p.Tyr52=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979978	NM_000103.4(CYP19A1):c.1022-20_1022-15dup	CYP19A1, MIR4713HG +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2977866	NM_000103.4(CYP19A1):c.810G>A (p.Glu270=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977386	NM_000103.4(CYP19A1):c.540T>C (p.Asn180=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975017	NM_000103.4(CYP19A1):c.1008C>T (p.Ile336=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959777	NM_000103.4(CYP19A1):c.743+11C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958352	NM_000103.4(CYP19A1):c.969A>G (p.Ala323=)	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 2956171	NM_000103.4(CYP19A1):c.451+14T>A	PIRC66, CYP19A1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955515	NM_000103.4(CYP19A1):c.859-17A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920153	NM_000103.4(CYP19A1):c.744-20T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919102	NM_000103.4(CYP19A1):c.629-12T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917551	NM_000103.4(CYP19A1):c.743+15T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 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 2916906	NM_000103.4(CYP19A1):c.146-17T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916821	NM_000103.4(CYP19A1):c.859-18del	CYP19A1, MIR4713HG +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2912035	NM_000103.4(CYP19A1):c.629-17dup	PIRC66, CYP19A1 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2907144	NM_000103.4(CYP19A1):c.1021+20_1021+23del	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2901435	NM_000103.4(CYP19A1):c.792C>T (p.Arg264=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899148	NM_000103.4(CYP19A1):c.296+17T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898625	NM_000103.4(CYP19A1):c.296+12C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 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 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 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 2897073	NM_000103.4(CYP19A1):c.957A>G (p.Leu319=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893342	NM_000103.4(CYP19A1):c.1021+13C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892498	NM_000103.4(CYP19A1):c.858+19T>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890811	NM_000103.4(CYP19A1):c.744-11T>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880502	NM_000103.4(CYP19A1):c.146-14G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873619	NM_000103.4(CYP19A1):c.1026G>A (p.Glu342=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868639	NM_000103.4(CYP19A1):c.126G>A (p.Glu42=)	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 2863693	NM_000103.4(CYP19A1):c.671G>A (p.Trp224Ter)	CYP19A1, MIR4713HG +1 more (W224*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2859018	NM_000103.4(CYP19A1):c.1021+15A>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857375	NM_000103.4(CYP19A1):c.743+9T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857027	NM_000103.4(CYP19A1):c.628+15A>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855942	NM_000103.4(CYP19A1):c.855A>G (p.Ala285=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849684	NM_000103.4(CYP19A1):c.858+20G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 2838636	NM_000103.4(CYP19A1):c.642G>A (p.Val214=)	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 2836137	NM_000103.4(CYP19A1):c.519C>T (p.Asp173=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835929	NM_000103.4(CYP19A1):c.628+18C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833228	NM_000103.4(CYP19A1):c.1022-20C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825057	NM_000103.4(CYP19A1):c.531G>A (p.Glu177=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822994	NM_000103.4(CYP19A1):c.534G>A (p.Val178=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819578	NM_000103.4(CYP19A1):c.231C>T (p.Tyr77=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818901	NM_000103.4(CYP19A1):c.297-7T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811717	NM_000103.4(CYP19A1):c.296+12C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809977	NM_000103.4(CYP19A1):c.220dup (p.Cys74fs)	CYP19A1, MIR4713HG +1 more (C74fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2807968	NM_000103.4(CYP19A1):c.629-13T>G	MIR4713HG, CYP19A1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807108	NM_000103.4(CYP19A1):c.571C>T (p.Leu191=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796796	NM_000103.4(CYP19A1):c.486A>G (p.Thr162=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous 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 2792249	NM_000103.4(CYP19A1):c.858+20G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789807	NM_000103.4(CYP19A1):c.1021+14A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787433	NM_000103.4(CYP19A1):c.243T>C (p.Tyr81=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786348	NM_000103.4(CYP19A1):c.146-12C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785272	NM_000103.4(CYP19A1):c.339C>T (p.Ser113=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2779478	NM_000103.4(CYP19A1):c.438C>T (p.Pro146=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776323	NM_000103.4(CYP19A1):c.629-15T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770227	NM_000103.4(CYP19A1):c.135C>T (p.Ser45=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769692	NM_000103.4(CYP19A1):c.897C>T (p.Cys299=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769321	NM_000103.4(CYP19A1):c.452-13G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768667	NM_000103.4(CYP19A1):c.786A>G (p.Lys262=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765535	NM_000103.4(CYP19A1):c.652dup (p.Gln218fs)	CYP19A1, MIR4713HG +1 more (Q218fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2762946	NM_000103.4(CYP19A1):c.525G>A (p.Leu175=)	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 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 2748734	NM_000103.4(CYP19A1):c.146-13A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 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 2744294	NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter)	CYP19A1, MIR4713HG +1 more (E342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2730738	NM_000103.4(CYP19A1):c.296+19G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724925	NM_000103.4(CYP19A1):c.261C>A (p.Val87=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719779	NM_000103.4(CYP19A1):c.903G>A (p.Leu301=)	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 2711062	NM_000103.4(CYP19A1):c.1022-11T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710325	NM_000103.4(CYP19A1):c.438C>G (p.Pro146=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706864	NM_000103.4(CYP19A1):c.563del (p.Val187_Leu188insTer)	CYP19A1, MIR4713HG +1 more	Deletion (nonsense)	not provided	GPathogenic
Select item 2701496	NM_000103.4(CYP19A1):c.629-19G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696892	NM_000103.4(CYP19A1):c.385G>T (p.Glu129Ter)	CYP19A1, MIR4713HG +1 more (E129*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2696783	NM_000103.4(CYP19A1):c.146-11A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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