ClinVar for MedGen (Select 1642123) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383350	NM_001379500.1(COL18A1):c.1222-2A>G	COL18A1, MIR6815	Single nucleotide variant (non-coding transcript variant +1 more)	Knobloch syndrome 1	GLikely pathogenic
Select item 3024164	NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)	COL18A1, SLC19A1 (S1028* +2 more)	Single nucleotide variant (nonsense)	Knobloch syndrome 1	GLikely pathogenic
Select item 2664684	NM_001379500.1(COL18A1):c.799-6C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2431924	NM_001379500.1(COL18A1):c.2032-1G>A	COL18A1	Single nucleotide variant (splice acceptor variant)	Knobloch syndrome 1 +1 more	GLikely pathogenic
Select item 1950913	NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)	COL18A1 (T697M +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +1 more	GUncertain significance
Select item 1924745	NM_001379500.1(COL18A1):c.2577+1G>A	COL18A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1809690	NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)	COL18A1	Deletion	Glaucoma, primary closed-angle +1 more	GBenign
Select item 1661788	NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Glaucoma, primary closed-angle +2 more	GLikely benign
Select item 1635424	NM_001379500.1(COL18A1):c.2869-11G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Glaucoma, primary closed-angle +2 more	GLikely benign
Select item 1571068	NM_001379500.1(COL18A1):c.1702-20G>A	COL18A1	Single nucleotide variant (intron variant)	Glaucoma, primary closed-angle +2 more	GBenign/Likely benign
Select item 1519449	NM_001379500.1(COL18A1):c.107-12513C>T	COL18A1 (R67W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1511225	NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val)	COL18A1, SLC19A1 (A1149V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1505525	NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	COL18A1, SLC19A1 (G1090R +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1493910	NM_001379500.1(COL18A1):c.1058G>A (p.Arg353Gln)	COL18A1 (R353Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1457175	NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs)	COL18A1 (P425fs +2 more)	Deletion (frameshift variant)	Knobloch syndrome 1 +1 more	GPathogenic
Select item 1446491	NM_001379500.1(COL18A1):c.1720G>A (p.Gly574Ser)	COL18A1 (G754S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1446350	NM_001379500.1(COL18A1):c.1292T>C (p.Val431Ala)	COL18A1 (V611A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445237	NM_001379500.1(COL18A1):c.1195G>A (p.Gly399Ser)	COL18A1 (G814S +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +2 more	GUncertain significance
Select item 1438410	NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu)	COL18A1, SLC19A1 (P1576L +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +1 more	GUncertain significance
Select item 1417839	NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs)	COL18A1, SLC19A1 (P1427fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1417474	NM_001379500.1(COL18A1):c.577C>T (p.Arg193Trp)	COL18A1 (R193W +2 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +3 more	GUncertain significance
Select item 1395895	NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser)	COL18A1, SLC19A1 (G977S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1366287	NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs)	COL18A1 (P581fs +2 more)	Duplication (frameshift variant)	Knobloch syndrome +2 more	GPathogenic
Select item 1354496	NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val)	COL18A1, SLC19A1 (A1431V +2 more)	Single nucleotide variant (missense variant)	COL18A1-related disorder +3 more	GUncertain significance
Select item 1168719	NM_001379500.1(COL18A1):c.3495+14C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Glaucoma, primary closed-angle +2 more	GBenign/Likely benign
Select item 1119343	NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp)	COL18A1, SLC19A1 (R1106W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1046232	NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1043254	NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg)	COL18A1, SLC19A1 (G1430R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1040700	NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His)	COL18A1, SLC19A1 (R1160H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031584	NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)	COL18A1, SLC19A1 (R1180Q +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1022823	NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg)	COL18A1 (G1113R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1001754	NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys)	COL18A1, SLC19A1 (R1160C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 896439	NC_000021.9:g.45405398C>T	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866461	NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)	COL18A1 (Q645fs +2 more)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 623349	NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs)	COL18A1, SLC19A1 (P1405fs +2 more)	Deletion (frameshift variant)	Knobloch syndrome +1 more	GPathogenic
Select item 515305	NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 447125	NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 446008	NM_001379500.1(COL18A1):c.2032-9T>A	COL18A1	Single nucleotide variant (intron variant)	Glaucoma, primary closed-angle +2 more	GBenign/Likely benign
Select item 445973	NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del)	COL18A1, SLC19A1 (L1082del +1 more)	Microsatellite (inframe_deletion)	Glaucoma, primary closed-angle +3 more	GBenign/Likely benign
Select item 403722	NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)	COL18A1 (G1072fs +2 more)	Duplication (frameshift variant)	Knobloch syndrome +2 more	GPathogenic
Select item 340254	NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu)	COL18A1, SLC19A1 (P1078L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 340197	NM_001379500.1(COL18A1):c.613G>A (p.Val205Met)	COL18A1 (V385M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 191317	NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)	SLC19A1, COL18A1 (R1095* +1 more)	Single nucleotide variant (nonsense)	Knobloch syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic
Select item 17119	NM_001379500.1(COL18A1):c.3013+3A>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Knobloch syndrome 1	GLikely pathogenic

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Items: 45