"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894998	NM_001379500.1(COL18A1):c.-2G>A	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	Knobloch syndrome +1 more	GUncertain significance
Select item 1804729	NM_001379500.1(COL18A1):c.107-11586del	COL18A1 (L376fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2573470	NM_001379500.1(COL18A1):c.107-11397G>T	COL18A1 (E439*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1619483	NM_001379500.1(COL18A1):c.651+17C>T	COL18A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2146959	NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1312928	NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)	COL18A1 (R327W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1649461	NM_001379500.1(COL18A1):c.1221+12C>T	COL18A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1437174	NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln)	COL18A1, SLC19A1 (R1095Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1657964	NM_001379500.1(COL18A1):c.2869-8G>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 587462	NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])	COL18A1, SLC19A1	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1042819	NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys)	COL18A1, SLC19A1 (E1045K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Glaucoma, primary closed-angle +4 more	GPathogenic
Select item 1121349	NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)	COL18A1, SLC19A1 (S1307L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3068963	NM_001379500.1(COL18A1):c.*1171A>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2691465	NC_000021.8:g.(?_46932478)_(46962355_?)dup	COL18A1, SLC19A1	Duplication	not specified	GUncertain significance
Select item 2691457	NC_000021.8:g.(?_46825079)_(46933635_?)dup	COL18A1	Duplication	not specified	GUncertain significance