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

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 1290027	NM_000349.3(STAR):c.744+211_744+212del	STAR	Deletion (intron variant)	not provided	GBenign
Select item 1262645	NM_000349.3(STAR):c.744+212del	STAR	Deletion (intron variant)	not provided	GBenign
Select item 1181788	NM_000349.3(STAR):c.650+95C>G	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 8988	NM_000349.3(STAR):c.545G>T (p.Arg182Leu)	STAR (R182L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 362846	NM_000349.3(STAR):c.466-5G>A	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GConflicting classifications of pathogenicity
Select item 1292008	NM_000349.3(STAR):c.466-68C>A	STAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448532	NM_000349.3(STAR):c.465+20A>G	STAR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1197267	NM_000349.3(STAR):c.307-157G>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198198	NM_000349.3(STAR):c.306+54G>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2442502	NM_000349.3(STAR):c.221C>G (p.Ala74Gly)	STAR (A74G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216316	NM_000349.3(STAR):c.178+113C>T	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362849	NM_000349.3(STAR):c.153G>A (p.Gln51=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 362850	NM_000349.3(STAR):c.120G>A (p.Leu40=)	STAR	Single nucleotide variant (synonymous variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GConflicting classifications of pathogenicity
Select item 1315415	NM_000349.3(STAR):c.110G>A (p.Arg37Gln)	STAR (R37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291799	NM_000349.3(STAR):c.65-59del	STAR	Deletion (intron variant)	not provided	GBenign
Select item 1232022	NM_000349.3(STAR):c.65-64G>C	STAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 550998	NM_000349.3(STAR):c.64+1G>T	STAR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 908499	NC_000008.11:g.38150990G>A	LOC108863620, STAR	Single nucleotide variant	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GBenign/Likely benign
Select item 1712031	NC_000008.11:g.38151235G>C	LOC108863620, STAR	Single nucleotide variant	not provided	GLikely benign
Select item 253803	GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3	C8orf86, RAB11FIP1 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 26