"Mendelics"[submitter] AND "COL18A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1366287	NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs)	COL18A1 (P581fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 261898	NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)	COL18A1 (P886R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 803635	NM_001379500.1(COL18A1):c.2157+79dup	COL18A1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1685646	NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs)	COL18A1 (G1072fs +2 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 803636	NM_001379500.1(COL18A1):c.2683+702G>A	COL18A1	Single nucleotide variant (intron variant)	Knobloch syndrome	GBenign
Select item 803638	NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2])	COL18A1, SLC19A1	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 518321	NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	COL18A1, SLC19A1	Deletion (inframe_deletion +1 more)	Knobloch syndrome	GBenign/Likely benign
Select item 17118	NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	COL18A1, SLC19A1 (D1437N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar