"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOX"[gene - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630118	NM_002317.7(LOX):c.1247+5G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1753246	NM_002317.7(LOX):c.1221G>A (p.Ala407=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1407636	NM_002317.7(LOX):c.1035+4T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	LOX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3051592	NM_002317.7(LOX):c.968del (p.Phe323fs)	LOX, SRFBP1 (F26fs +2 more)	Deletion (frameshift variant)	LOX-related disorder	GUncertain significance
Select item 496155	NM_002317.7(LOX):c.918G>A (p.Leu306=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1763847	NM_002317.7(LOX):c.855C>G (p.Ser285=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1763280	NM_002317.7(LOX):c.840C>T (p.Ser280=)	SRFBP1, LOX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1762533	NM_002317.7(LOX):c.822A>G (p.Thr274=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 496152	NM_002317.7(LOX):c.534T>C (p.Ser178=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1570227	NM_002317.7(LOX):c.472C>A (p.Arg158=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2986632	NM_002317.7(LOX):c.417C>G (p.Ala139=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	LOX-related disorder +1 more	GLikely benign
Select item 496151	NM_002317.7(LOX):c.395C>T (p.Ser132Phe)	LOX, SRFBP1 (S132F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 736277	NM_002317.7(LOX):c.322G>A (p.Gly108Ser)	LOX, SRFBP1 (G108S)	Single nucleotide variant (missense variant)	LOX-related disorder +3 more	GLikely benign
Select item 723122	NM_002317.7(LOX):c.308G>C (p.Arg103Pro)	LOX, SRFBP1 (R103P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3056533	NM_002317.7(LOX):c.273C>T (p.Ile91=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	LOX-related disorder	GLikely benign
Select item 1209132	NM_002317.7(LOX):c.216G>A (p.Pro72=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	LOX-related disorder +2 more	GBenign/Likely benign
Select item 2632792	NM_002317.7(LOX):c.215C>T (p.Pro72Leu)	LOX, SRFBP1 (P72L)	Single nucleotide variant (missense variant)	LOX-related disorder	GUncertain significance