"GeneDx"[submitter] AND "SCARB1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 1297808	NM_005505.5(SCARB1):c.*94G>A	SCARB1 (G433R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1181016	NM_005505.5(SCARB1):c.*72G>A	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1254971	NM_005505.5(SCARB1):c.*1-112C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316819	NM_005505.5(SCARB1):c.*1-143C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317404	NM_005505.5(SCARB1):c.*1530+78G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316820	NM_005505.5(SCARB1):c.1401+174T>C	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1246761	NM_005505.5(SCARB1):c.1401+130T>C	SCARB1 (C470R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1232985	NM_005505.5(SCARB1):c.1255-41C>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261540	NM_005505.5(SCARB1):c.1255-52T>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275395	NM_005505.5(SCARB1):c.1255-69G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227556	NM_005505.5(SCARB1):c.1254+274G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282071	NM_005505.5(SCARB1):c.1202+216del	SCARB1	Deletion (intron variant)	not provided	GBenign
Select item 1316664	NM_005505.5(SCARB1):c.1202+80G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270257	NM_005505.5(SCARB1):c.1129-7G>A	LOC129390586, SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284028	NM_005505.5(SCARB1):c.1129-161dup	SCARB1	Duplication (intron variant)	not provided	GBenign
Select item 1224844	NM_005505.5(SCARB1):c.1129-154del	SCARB1	Deletion (intron variant)	not provided	GBenign
Select item 1296954	NM_005505.5(SCARB1):c.1128+73C>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236346	NM_005505.5(SCARB1):c.1050T>C (p.Ala350=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1224092	NM_005505.5(SCARB1):c.903C>T (p.Phe301=)	SCARB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1316875	NM_005505.5(SCARB1):c.843-180G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227259	NM_005505.5(SCARB1):c.843-202A>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317599	NM_005505.5(SCARB1):c.727-9T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288656	NM_005505.5(SCARB1):c.727-193G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274275	NM_005505.5(SCARB1):c.726+255G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280787	NM_005505.5(SCARB1):c.726+55G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250072	NM_005505.5(SCARB1):c.726+54C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278311	NM_005505.5(SCARB1):c.631-53C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572765	NM_005505.5(SCARB1):c.631-193C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287588	NM_005505.5(SCARB1):c.631-203C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259707	NM_005505.5(SCARB1):c.631-239C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317128	NM_005505.5(SCARB1):c.630+15G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1283188	NM_005505.5(SCARB1):c.501C>T (p.Gly167=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317027	NM_005505.5(SCARB1):c.427-80G>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242016	NM_005505.5(SCARB1):c.426+150T>C	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317811	NM_005505.5(SCARB1):c.426+117C>T	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248125	NM_005505.5(SCARB1):c.403G>A (p.Val135Ile)	SCARB1 (V135I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1164177	NM_005505.5(SCARB1):c.386C>T (p.Ser129Leu)	SCARB1 (S129L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1181708	NM_005505.5(SCARB1):c.285-170G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316290	NM_005505.5(SCARB1):c.285-190A>G	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720609	NM_005505.5(SCARB1):c.276C>T (p.Tyr92=)	SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1702535	NM_005505.5(SCARB1):c.126+261G>A	SCARB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290029	NM_005505.5(SCARB1):c.21G>C (p.Ala7=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1283556	NM_005505.5(SCARB1):c.12C>T (p.Ser4=)	LOC130009157, SCARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1264359	NM_005505.5(SCARB1):c.4G>A (p.Gly2Ser)	LOC130009157, SCARB1 (G2S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 46