"GeneDx"[submitter] AND "MIR4713HG"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
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 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 1180939	NM_000103.4(CYP19A1):c.1264-173T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247428	NM_000103.4(CYP19A1):c.1264-225G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192005	NM_000103.4(CYP19A1):c.1263+252A>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2442503	NM_000103.4(CYP19A1):c.1154G>A (p.Gly385Asp)	CYP19A1, PIRC66 +1 more (G385D)	Single nucleotide variant (missense variant)	not provided	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)	PIRC66, CYP19A1 +1 more (L353fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 523831	NM_000103.4(CYP19A1):c.1051C>T (p.Gln351Ter)	CYP19A1, MIR4713HG +1 more (Q351*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1247264	NM_000103.4(CYP19A1):c.1022-53T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237268	NM_000103.4(CYP19A1):c.1022-176A>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700861	NM_000103.4(CYP19A1):c.916G>A (p.Ala306Thr)	CYP19A1, MIR4713HG +1 more (A306T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293222	NM_000103.4(CYP19A1):c.859-79A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292714	NM_000103.4(CYP19A1):c.859-181G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279539	NM_000103.4(CYP19A1):c.858+118A>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241452	NM_000103.4(CYP19A1):c.858+106A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207345	NM_000103.4(CYP19A1):c.858+101del	CYP19A1, MIR4713HG +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 1293221	NM_000103.4(CYP19A1):c.858+26C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311753	NM_000103.4(CYP19A1):c.820G>A (p.Glu274Lys)	PIRC66, CYP19A1 +1 more (E274K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137064	NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys)	CYP19A1, MIR4713HG +1 more (R264C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1241371	NM_000103.4(CYP19A1):c.744-106T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168854	NM_000103.4(CYP19A1):c.743+36A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174721	NM_000103.4(CYP19A1):c.629-16T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297189	NM_000103.4(CYP19A1):c.603G>T (p.Thr201=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1194713	NM_000103.4(CYP19A1):c.552T>G (p.Tyr184Ter)	CYP19A1, MIR4713HG +1 more (Y184*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1204318	NM_000103.4(CYP19A1):c.451+227G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261563	NM_000103.4(CYP19A1):c.451+79TATT[8]	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1226158	NM_000103.4(CYP19A1):c.451+79TATT[11]	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1208685	NM_000103.4(CYP19A1):c.451+79TATT[10]	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1200202	NM_000103.4(CYP19A1):c.451+79TATT[12]	CYP19A1, MIR4713HG +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1247292	NM_000103.4(CYP19A1):c.451+28_451+30dup	CYP19A1, MIR4713HG +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1267015	NM_000103.4(CYP19A1):c.451+28_451+29insCTT	CYP19A1, MIR4713HG +1 more	Insertion (intron variant)	not provided	GBenign
Select item 373729	NM_000103.4(CYP19A1):c.380T>C (p.Met127Thr)	CYP19A1, MIR4713HG +1 more (M127T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 1251612	NM_000103.4(CYP19A1):c.297-76A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218933	NM_000103.4(CYP19A1):c.297-128C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2581893	NM_000103.4(CYP19A1):c.233A>G (p.Asn78Ser)	CYP19A1, MIR4713HG +1 more (N78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373728	NM_000103.4(CYP19A1):c.230A>G (p.Tyr77Cys)	PIRC66, CYP19A1 +1 more (Y77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1204075	NM_000103.4(CYP19A1):c.165A>T (p.Gly55=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1253920	NM_000103.4(CYP19A1):c.146-27T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271622	NM_000103.4(CYP19A1):c.146-59A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1292659	NM_000103.4(CYP19A1):c.-38-45C>A	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1202950	NM_000103.4(CYP19A1):c.-38-109A>C	MIR4713HG, PIRC66 +2 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign

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Items: 52