CYP19A1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 316482	NM_000103.4(CYP19A1):c.-39+14624_-39+14625del	CYP19A1	Deletion (5 prime UTR variant +1 more)	Aromatase deficiency	GUncertain significance
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 516579	NM_000103.4(CYP19A1):c.-39+14555C>T	CYP19A1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 631737	NM_000103.4(CYP19A1):c.-39+1G>A	CYP19A1	Single nucleotide variant (splice donor variant)	Aromatase deficiency	GUncertain significance
Select item 3243898	NC_000015.9:g.(?_51510718)_(51514742_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 3243897	NC_000015.9:g.(?_51507247)_(51520150_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 3243896	NC_000015.9:g.(?_51503005)_(51504778_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 3243895	NC_000015.9:g.(?_51529036)_(51529226_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 1459656	NC_000015.9:g.(?_51529046)_(51547938_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 833490	NC_000015.10:g.(?_51210798)_(51255741_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 830524	NC_000015.10:g.(?_51227769)_(51227943_?)del	CYP19A1	Deletion	not provided	GPathogenic
Select item 17827	CYP19A1, CYP19A1/TRPM7 FUSION	CYP19A1	Complex	Aromatase excess syndrome	GPathogenic