"GeneDx"[submitter] AND "SCYL1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 422875	NM_020680.4(SCYL1):c.399del (p.Asn133fs)	SCYL1 (N133fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3369649	NM_020680.4(SCYL1):c.737C>G (p.Ala246Gly)	SCYL1 (A103G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307156	NM_020680.4(SCYL1):c.812G>A (p.Arg271His)	SCYL1 (R271H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1049140	NM_020680.4(SCYL1):c.928C>T (p.Arg310Trp)	SCYL1 (R310W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1050770	NM_020680.4(SCYL1):c.1097G>A (p.Arg366His)	SCYL1 (R366H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369650	NM_020680.4(SCYL1):c.1102C>T (p.Arg368Cys)	SCYL1 (R164C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218909	NM_020680.4(SCYL1):c.1230+1G>A	SCYL1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 863618	NM_001130144.3(LTBP3):c.3859G>A (p.Gly1287Ser)	LTBP3, SCYL1 (G1123S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance