"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "POR"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176229	NM_001395413.1(POR):c.156C>T (p.Pro52=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GLikely benign
Select item 360701	NM_001395413.1(POR):c.508-4G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2657617	NM_001395413.1(POR):c.549C>T (p.Ala183=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 360702	NM_001395413.1(POR):c.633-5C>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 596382	NM_001395413.1(POR):c.678C>T (p.Ala226=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2657618	NM_001395413.1(POR):c.753C>T (p.Thr251=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2657619	NM_001395413.1(POR):c.948T>C (p.Ser316=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618841	NM_001395413.1(POR):c.1191G>A (p.Ser397=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 761467	NM_001395413.1(POR):c.1482G>A (p.Leu494=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2044354	NM_001395413.1(POR):c.1605C>T (p.Thr535=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 284175	NM_001395413.1(POR):c.1882G>A (p.Val628Ile)	POR (V578I +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GConflicting classifications of pathogenicity
Select item 908745	NM_001395413.1(POR):c.*51C>T	POR	Single nucleotide variant (3 prime UTR variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity