ClinVar for MedGen (Select 743307) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2503834	NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)	CYP19A1, MIR4713HG +1 more (N411S)	Single nucleotide variant (missense variant)	Aromatase deficiency	GPathogenic
Select item 2431582	NM_000103.4(CYP19A1):c.859-9A>G	PIRC66, MIR4713HG +1 more	Single nucleotide variant (intron variant)	Aromatase deficiency	GUncertain significance
Select item 1212857	NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)	CYP19A1, MIR4713HG +1 more (R115*)	Single nucleotide variant (nonsense)	Aromatase deficiency +1 more	GPathogenic
Select item 1164769	NM_000103.4(CYP19A1):c.75C>T (p.Thr25=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1125955	NM_000103.4(CYP19A1):c.639C>T (p.Ile213=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990920	NM_000103.4(CYP19A1):c.41C>T (p.Thr14Ile)	LOC110386951, PIRC66 +2 more (T14I)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 990919	NM_000103.4(CYP19A1):c.99C>A (p.Gly33=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990918	NM_000103.4(CYP19A1):c.138A>C (p.Ser46=)	PIRC66, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency	GUncertain significance
Select item 990917	NM_000103.4(CYP19A1):c.146-7G>T	PIRC66, CYP19A1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990916	NM_000103.4(CYP19A1):c.196C>T (p.Leu66=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990915	NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=)	PIRC66, CYP19A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990914	NM_000103.4(CYP19A1):c.237G>A (p.Arg79=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990913	NM_000103.4(CYP19A1):c.467G>A (p.Gly156Asp)	CYP19A1, MIR4713HG +1 more (G156D)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 990912	NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr)	PIRC66, MIR4713HG +1 more (A165T)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 990911	NM_000103.4(CYP19A1):c.625G>A (p.Asp209Asn)	MIR4713HG, PIRC66 +1 more (D209N)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 990910	NM_000103.4(CYP19A1):c.637A>G (p.Ile213Val)	CYP19A1, PIRC66 +1 more (I213V)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 990909	NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg)	MIR4713HG, CYP19A1 +1 more (C275R)	Single nucleotide variant (missense variant)	Aromatase deficiency	GLikely benign
Select item 990908	NM_000103.4(CYP19A1):c.859-6G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990907	NM_000103.4(CYP19A1):c.907A>G (p.Met303Val)	CYP19A1, MIR4713HG +1 more (M303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 990906	NM_000103.4(CYP19A1):c.1133T>C (p.Leu378Ser)	MIR4713HG, CYP19A1 +1 more (L378S)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
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 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 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 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 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 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 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 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 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 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 887527	NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)	CYP19A1, MIR4713HG +1 more (Y81C)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 887526	NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887525	NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn)	CYP19A1, MIR4713HG +1 more (K119N)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 887524	NM_000103.4(CYP19A1):c.383A>G (p.His128Arg)	CYP19A1, MIR4713HG +1 more (H128R)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 887334	NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)	CYP19A1, MIR4713HG +1 more (Y241N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887333	NM_000103.4(CYP19A1):c.924T>G (p.Pro308=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency	GUncertain significance
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 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 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 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 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 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 887216	NM_000103.4(CYP19A1):c.*2624C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
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 887214	NM_000103.4(CYP19A1):c.*2723A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
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 886338	NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 884374	NM_000103.4(CYP19A1):c.-118G>A	CYP19A1, LOC110386947	Single nucleotide variant (5 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884373	NM_000103.4(CYP19A1):c.-39+14640A>G	CYP19A1	Single nucleotide variant (5 prime UTR variant +1 more)	Aromatase deficiency	GUncertain significance
Select item 884372	NM_000103.4(CYP19A1):c.-39+14646C>T	CYP19A1	Single nucleotide variant (5 prime UTR variant +1 more)	Aromatase deficiency	GUncertain significance
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 884315	NM_000103.4(CYP19A1):c.*125T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GUncertain significance
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 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 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 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 859794	NM_000103.4(CYP19A1):c.297-1G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 807260	NM_181789.4(GLDN):c.95C>G (p.Ala32Gly)	GLDN (A32G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 766660	NM_000103.4(CYP19A1):c.465C>T (p.Pro155=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 765780	NM_000103.4(CYP19A1):c.24G>A (p.Pro8=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 764434	NM_000103.4(CYP19A1):c.475C>T (p.Arg159Cys)	CYP19A1, MIR4713HG +1 more (R159C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749543	NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +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)	Aromatase deficiency +1 more	GBenign
Select item 746330	NM_000103.4(CYP19A1):c.451+8G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 736199	NM_000103.4(CYP19A1):c.1263+8C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724362	NM_000103.4(CYP19A1):c.963C>G (p.Leu321=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +1 more	GBenign
Select item 653853	NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)	PIRC66, CYP19A1 +1 more (L353fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 631737	NM_000103.4(CYP19A1):c.-39+1G>A	CYP19A1	Single nucleotide variant (splice donor variant)	Aromatase deficiency	GUncertain significance
Select item 509948	NM_000103.4(CYP19A1):c.109T>C (p.Leu37=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 509947	NM_000103.4(CYP19A1):c.42C>G (p.Thr14=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316483	NM_000103.4(CYP19A1):c.-39+14572C>T	CYP19A1	Single nucleotide variant (5 prime UTR variant +1 more)	Aromatase deficiency	GUncertain significance
Select item 316482	NM_000103.4(CYP19A1):c.-39+14624_-39+14625del	CYP19A1	Deletion (5 prime UTR variant +1 more)	Aromatase deficiency	GUncertain significance
Select item 316481	NM_000103.4(CYP19A1):c.-39+14659C>A	CYP19A1	Single nucleotide variant (5 prime UTR variant +1 more)	Aromatase deficiency +1 more	GBenign
Select item 316480	NM_000103.4(CYP19A1):c.49G>A (p.Val17Met)	PIRC66, CYP19A1 +1 more (V17M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316479	NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg)	CYP19A1, MIR4713HG +1 more (W39R)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	GBenign/Likely benign
Select item 316478	NM_000103.4(CYP19A1):c.186C>T (p.His62=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 316477	NM_000103.4(CYP19A1):c.240A>G (p.Val80=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +2 more	GBenign
Select item 316476	NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met)	CYP19A1, MIR4713HG +1 more (T201M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316475	NM_000103.4(CYP19A1):c.629-10T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316474	NM_000103.4(CYP19A1):c.629-8dup	CYP19A1, MIR4713HG +1 more	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316473	NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr)	CYP19A1, MIR4713HG +1 more (M318T)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	GUncertain significance
Select item 316472	NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser)	CYP19A1, MIR4713HG +1 more (P326S)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	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 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 316469	NM_000103.4(CYP19A1):c.*19C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase excess syndrome +2 more	GBenign
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 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 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 316465	NM_000103.4(CYP19A1):c.*191C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance

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