"Genome-Nilou Lab"[submitter] AND "COL18A1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518320	NM_001379500.1(COL18A1):c.107-12592T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 261919	NM_001379500.1(COL18A1):c.107-12073A>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1217343	NM_001379500.1(COL18A1):c.107-11850G>A	COL18A1 (A288T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 261890	NM_001379500.1(COL18A1):c.1312-37G>A	COL18A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 261892	NM_001379500.1(COL18A1):c.1674+34A>C	COL18A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 261895	NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 261898	NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)	COL18A1 (P886R +1 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +3 more	GBenign/Likely benign
Select item 261902	NM_001379500.1(COL18A1):c.2577+37del	COL18A1	Deletion (intron variant)	not provided +3 more	GBenign
Select item 1217345	NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)	COL18A1, SLC19A1	Variation (no sequence alteration)	Glaucoma, primary closed-angle +1 more	GBenign
Select item 261910	NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)	SLC19A1, COL18A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 261884	NM_001379500.1(COL18A1):c.*16G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign