"Counsyl"[submitter] AND "STAR"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 551209	NM_000349.3(STAR):c.801dup (p.Ala268fs)	STAR (A268fs)	Duplication (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely 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 558587	NM_000349.3(STAR):c.745-1_757del	STAR	Deletion (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 554730	NM_000349.3(STAR):c.716_732del (p.Leu239fs)	STAR (L239fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
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 558205	NM_000349.3(STAR):c.695del (p.Gly232fs)	STAR (G232fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554752	NM_000349.3(STAR):c.677del (p.Val226fs)	STAR (V226fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 558210	NM_000349.3(STAR):c.651-1G>C	STAR	Single nucleotide variant (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 370502	NM_000349.3(STAR):c.629_630del (p.Pro210fs)	STAR (P210fs)	Deletion (frameshift 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 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 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)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GPathogenic/Likely pathogenic
Select item 8995	NM_000349.3(STAR):c.545G>A (p.Arg182His)	STAR (R182H)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 550550	NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	STAR (R182C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 448533	NM_000349.3(STAR):c.505G>A (p.Glu169Lys)	STAR (E169K)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GPathogenic/Likely pathogenic
Select item 557765	NM_000349.3(STAR):c.466-11T>A	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 551640	NM_000349.3(STAR):c.298_299del (p.Gln101fs)	STAR (Q101fs)	Microsatellite (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 550533	NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)	STAR (K98del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553713	NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	STAR (Q77*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555439	NM_000349.3(STAR):c.179-2A>G	STAR	Single nucleotide variant (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
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 551528	NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)	STAR	Deletion (inframe_deletion)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 36782	NM_000349.3(STAR):c.135del (p.Ser46fs)	STAR (S46fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557853	NM_000349.3(STAR):c.64+2T>C	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic

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Items: 28