"Illumina Laboratory Services, Illumina"[submitter] AND "LOXL3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337136	NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 337137	NM_013247.5(HTRA2):c.1155C>T (p.Pro385=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	HTRA2-related condition +2 more	GLikely benign
Select item 4341	NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)	HTRA2, LOXL3 (G399S)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 337138	NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile)	HTRA2, LOXL3 (T449I +3 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 337139	NM_013247.5(HTRA2):c.*94C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337140	NM_013247.5(HTRA2):c.*249G>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896084	NM_013247.5(HTRA2):c.*265C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897673	NM_013247.5(HTRA2):c.*267C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337141	NM_013247.5(HTRA2):c.*291G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337142	NM_032603.5(LOXL3):c.*237G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337143	NM_032603.5(LOXL3):c.*178A>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337144	NM_032603.5(LOXL3):c.*108A>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337145	NM_032603.5(LOXL3):c.*90T>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337146	NM_032603.5(LOXL3):c.*84C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance