"Pecori Giraldi Lab, University of Milan"[submitter] AND "POR"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256842	NM_001395413.1(POR):c.378A>G (p.Pro126=)	POR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 978019	NM_001395413.1(POR):c.822-35C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign/Likely benign
Select item 138789	NM_001395413.1(POR):c.1058-13C>G	POR	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +4 more	GBenign
Select item 256838	NM_001395413.1(POR):c.1239+12C>T	POR	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 256839	NM_001395413.1(POR):c.1239+20G>A	POR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 138790	NM_001395413.1(POR):c.1446T>C (p.Ala482=)	POR	Single nucleotide variant (synonymous variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +4 more	GBenign
Select item 256840	NM_001395413.1(POR):c.1499C>T (p.Ala500Val)	POR (A450V +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GBenign/Likely benign
Select item 256841	NM_001395413.1(POR):c.1707G>A (p.Ser569=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GBenign