C0342474[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12159	NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2, LOC106780800 (P454S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 957675	NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	STAR (L275P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334169	NM_000349.3(STAR):c.815G>A (p.Arg272His)	STAR (R272H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 556387	NM_000349.3(STAR):c.811del (p.Leu271fs)	STAR (L271fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 553482	NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	STAR (L260P)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
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 1089539	NM_000349.3(STAR):c.759G>A (p.Lys253=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1137020	NM_000349.3(STAR):c.738C>T (p.Asp246=)	STAR	Single nucleotide variant (synonymous variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 909275	NM_000349.3(STAR):c.731G>A (p.Ser244Asn)	STAR (S244N)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 1142481	NM_000349.3(STAR):c.720G>C (p.Thr240=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 35553	NM_000349.3(STAR):c.577C>T (p.Arg193Ter)	STAR (R193*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 553117	NM_000349.3(STAR):c.563G>A (p.Arg188His)	STAR (R188H)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
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 8996	NM_000349.3(STAR):c.559G>A (p.Val187Met)	STAR (V187M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550550	NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	STAR (R182C)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 1353843	NM_000349.3(STAR):c.488A>T (p.Asp163Val)	STAR (D163V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1110345	NM_000349.3(STAR):c.402T>C (p.Tyr134=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 553713	NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	STAR (Q77*)	Single nucleotide variant (nonsense)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 586680	NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	STAR (Y68fs)	Microsatellite (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic
Select item 557688	NM_000349.3(STAR):c.178+1G>C	STAR	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 911472	NM_000349.3(STAR):c.158G>C (p.Arg53Pro)	STAR (R53P)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 736390	NM_000349.3(STAR):c.158G>T (p.Arg53Leu)	STAR (R53L)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 911473	NM_000349.3(STAR):c.157C>G (p.Arg53Gly)	STAR (R53G)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GUncertain significance
Select item 1087524	NM_000349.3(STAR):c.64+9T>C	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 1529262	NM_000349.3(STAR):c.64+7G>C	STAR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 550998	NM_000349.3(STAR):c.64+1G>T	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GPathogenic

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Items: 27