"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8987	NM_000349.3(STAR):c.772C>T (p.Gln258Ter)	STAR (Q258*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 558171	NM_000349.3(STAR):c.714del (p.Lys238fs)	STAR (K238fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2577277	NM_000349.3(STAR):c.674T>C (p.Met225Thr)	STAR (M225T)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 661662	NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	STAR (G221S)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 8993	NM_000349.3(STAR):c.653C>T (p.Ala218Val)	STAR (A218V)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic
Select item 551230	NM_000349.3(STAR):c.574C>T (p.Arg192Cys)	STAR (R192C)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GConflicting classifications of pathogenicity
Select item 8997	NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	STAR (R188C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 448532	NM_000349.3(STAR):c.465+20A>G	STAR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1811118	NM_000349.3(STAR):c.306+1G>A	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely pathogenic
Select item 36782	NM_000349.3(STAR):c.135del (p.Ser46fs)	STAR (S46fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic