"Natera, Inc."[submitter] AND "PIRC66"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 736199	NM_000103.4(CYP19A1):c.1263+8C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 653853	NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)	CYP19A1, MIR4713HG +1 more (L353fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 316472	NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser)	CYP19A1, MIR4713HG +1 more (P326S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 724362	NM_000103.4(CYP19A1):c.963C>G (p.Leu321=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 990907	NM_000103.4(CYP19A1):c.907A>G (p.Met303Val)	CYP19A1, MIR4713HG +1 more (M303V)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
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 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 137064	NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys)	MIR4713HG, PIRC66 +1 more (R264C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 887334	NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)	CYP19A1, MIR4713HG +1 more (Y241N)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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 316476	NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met)	CYP19A1, MIR4713HG +1 more (T201M)	Single nucleotide variant (missense variant)	Aromatase deficiency +1 more	GBenign
Select item 749543	NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 766660	NM_000103.4(CYP19A1):c.465C>T (p.Pro155=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 859794	NM_000103.4(CYP19A1):c.297-1G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (splice acceptor variant)	Aromatase excess syndrome +2 more	GLikely pathogenic
Select item 316477	NM_000103.4(CYP19A1):c.240A>G (p.Val80=)	PIRC66, CYP19A1 +1 more	Single nucleotide variant (synonymous variant)	Aromatase excess syndrome +2 more	GBenign
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 990915	NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous 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 316478	NM_000103.4(CYP19A1):c.186C>T (p.His62=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	Aromatase deficiency +2 more	GBenign
Select item 990917	NM_000103.4(CYP19A1):c.146-7G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron 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 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 1164769	NM_000103.4(CYP19A1):c.75C>T (p.Thr25=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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

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Items: 44