Related gene-specific medical variations for Gene (Select 109729174) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3577358	NM_000103.4(CYP19A1):c.145+2T>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (splice donor variant)	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3577357	NM_031226.3(CYP19A1):c.297del	CYP19A1, MIR4713HG +1 more	Deletion	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3577356	NM_000103.4(CYP19A1):c.316del (p.His105_Ile106insTer)	CYP19A1, MIR4713HG +1 more	Deletion (nonsense)	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3577355	NM_000103.4(CYP19A1):c.724A>T (p.Lys242Ter)	CYP19A1, MIR4713HG +1 more (K242*)	Single nucleotide variant (nonsense)	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3577354	NM_000103.4(CYP19A1):c.1022-2A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (splice acceptor variant)	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3577353	NM_000103.4(CYP19A1):c.1369C>T (p.Arg457Ter)	CYP19A1, MIR4713HG +1 more (R457*)	Single nucleotide variant (nonsense)	Aromatase deficiency +1 more	GLikely pathogenic
Select item 3499047	NM_000103.4(CYP19A1):c.1324A>T (p.Ile442Phe)	CYP19A1, MIR4713HG +1 more (I442F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3499046	NM_000103.4(CYP19A1):c.229T>C (p.Tyr77His)	CYP19A1, MIR4713HG +1 more (Y77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3459103	NM_207381.4(TNFAIP8L3):c.75G>T (p.Trp25Cys)	MIR4713HG, PIRC66 +1 more (W25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3459102	NM_001311175.2(TNFAIP8L3):c.24G>C (p.Gln8His)	MIR4713HG, PIRC66 +1 more (Q8H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3459101	NM_207381.4(TNFAIP8L3):c.82G>A (p.Gly28Arg)	MIR4713HG, PIRC66 +1 more (G28R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3388966	NM_000103.4(CYP19A1):c.640G>A (p.Val214Met)	PIRC66, MIR4713HG +1 more (V214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376992	NM_000103.4(CYP19A1):c.538A>G (p.Asn180Asp)	CYP19A1, MIR4713HG +1 more (N180D)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 3364351	NM_000103.4(CYP19A1):c.1160C>T (p.Pro387Leu)	CYP19A1, MIR4713HG +1 more (P387L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338979	NM_000103.4(CYP19A1):c.1327G>A (p.Ala443Thr)	CYP19A1, MIR4713HG +1 more (A443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327470	NM_001311175.2(TNFAIP8L3):c.34G>A (p.Glu12Lys)	MIR4713HG, PIRC66 +1 more (E100K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327469	NM_001311175.2(TNFAIP8L3):c.475G>A (p.Gly159Arg)	MIR4713HG, PIRC66 +1 more (G159R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270496	NM_000103.4(CYP19A1):c.513T>A (p.His171Gln)	CYP19A1, MIR4713HG +1 more (H171Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252486	NM_000103.4(CYP19A1):c.376G>A (p.Gly126Ser)	CYP19A1, MIR4713HG +1 more (G126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251564	NM_000103.4(CYP19A1):c.1124G>T (p.Arg375Leu)	CYP19A1, MIR4713HG +1 more (R375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180199	NM_207381.4(TNFAIP8L3):c.80A>G (p.Asn27Ser)	MIR4713HG, PIRC66 +1 more (N27S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180198	NM_001311175.2(TNFAIP8L3):c.545G>C (p.Gly182Ala)	MIR4713HG, PIRC66 +1 more (G182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180197	NM_001311175.2(TNFAIP8L3):c.527C>G (p.Thr176Ser)	MIR4713HG, PIRC66 +1 more (T264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180196	NM_001311175.2(TNFAIP8L3):c.368A>G (p.Tyr123Cys)	MIR4713HG, PIRC66 +1 more (Y211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180195	NM_001311175.2(TNFAIP8L3):c.139A>G (p.Met47Val)	MIR4713HG, PIRC66 +1 more (M47V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180194	NM_207381.4(TNFAIP8L3):c.34G>T (p.Val12Phe)	MIR4713HG, PIRC66 +1 more (V12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CYP19A1, MIR4713HG +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	PIRC66, CYP19A1 +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	CYP19A1, MIR4713HG +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

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