ClinVar for MedGen (Select 1642123) - ClinVar

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Items: 32

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24319241.	NM_001379500.1(COL18A1):c.2032-1G>A GRCh37: Chr21:46910749 GRCh38: Chr21:45490835	COL18A1		Knobloch syndrome 1	Likely pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 19247452.	NM_001379500.1(COL18A1):c.2577+1G>A GRCh37: Chr21:46916483 GRCh38: Chr21:45496569	COL18A1		not provided, Knobloch syndrome 1	Pathogenic/Likely pathogenic (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18096903.	NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)	COL18A1		Glaucoma, primary closed-angle, Knobloch syndrome 1	Benign (Nov 24, 2021)	criteria provided, single submitter
Select item 16617884.	NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) GRCh37: Chr21:46929356 GRCh38: Chr21:45509442	COL18A1, SLC19A1		not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Likely benign (Sep 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16354245.	NM_001379500.1(COL18A1):c.2869-11G>A GRCh37: Chr21:46925037 GRCh38: Chr21:45505123	COL18A1, SLC19A1		not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15710686.	NM_001379500.1(COL18A1):c.1702-20G>A GRCh37: Chr21:46906755 GRCh38: Chr21:45486841	COL18A1		not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15112257.	NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) GRCh37: Chr21:46929466 GRCh38: Chr21:45509552	SLC19A1, COL18A1	A1149V, A1326V, A1561V	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15055258.	NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) GRCh37: Chr21:46924330 GRCh38: Chr21:45504416	COL18A1, SLC19A1	G1090R, G910R, G1325R	not provided, Knobloch syndrome 1	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 14939109.	NM_001379500.1(COL18A1):c.1058G>A (p.Arg353Gln) GRCh37: Chr21:46897716 GRCh38: Chr21:45477802	COL18A1	R353Q, R533Q, R768Q	Glaucoma, primary closed-angle, Knobloch syndrome 1, Inborn genetic diseases, not provided	Uncertain significance (Aug 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145717510.	NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs) GRCh37: Chr21:46899838-46899847 GRCh38: Chr21:45479924-45479933	COL18A1	P425fs, P605fs, P840fs	Knobloch syndrome 1, not provided	Pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144649111.	NM_001379500.1(COL18A1):c.1720G>A (p.Gly574Ser) GRCh37: Chr21:46906793 GRCh38: Chr21:45486879	COL18A1	G754S, G989S, G574S	not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144635012.	NM_001379500.1(COL18A1):c.1292T>C (p.Val431Ala) GRCh37: Chr21:46899859 GRCh38: Chr21:45479945	COL18A1	V611A, V846A, V431A	Inborn genetic diseases, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144523713.	NM_001379500.1(COL18A1):c.1195G>A (p.Gly399Ser) GRCh37: Chr21:46897853 GRCh38: Chr21:45477939	COL18A1	G814S, G399S, G579S	not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141747414.	NM_001379500.1(COL18A1):c.577C>T (p.Arg193Trp) GRCh37: Chr21:46888626 GRCh38: Chr21:45468712	COL18A1	R193W, R373W, R608W	Inborn genetic diseases, not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139589515.	NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) GRCh37: Chr21:46925108 GRCh38: Chr21:45505194	COL18A1, SLC19A1	G977S, G1389S, G1154S	not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136628716.	NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) GRCh37: Chr21:46897844-46897845 GRCh38: Chr21:45477930-45477931	COL18A1	P581fs, P401fs, P816fs	Knobloch syndrome 1, not provided, Knobloch syndrome	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135449617.	NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) GRCh37: Chr21:46931092 GRCh38: Chr21:45511178	COL18A1, SLC19A1	A1431V, A1254V, A1666V	COL18A1-related condition, Glaucoma, primary closed-angle, Knobloch syndrome 1, not provided	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116871918.	NM_001379500.1(COL18A1):c.3495+14C>G GRCh37: Chr21:46929529 GRCh38: Chr21:45509615	COL18A1, SLC19A1		Glaucoma, primary closed-angle, Knobloch syndrome 1, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111934319.	NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) GRCh37: Chr21:46929336 GRCh38: Chr21:45509422	COL18A1, SLC19A1	R1106W, R1283W, R1518W	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104325420.	NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) GRCh37: Chr21:46931088 GRCh38: Chr21:45511174	COL18A1, SLC19A1	G1430R, G1665R, G1253R	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104070021.	NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) GRCh37: Chr21:46925127 GRCh38: Chr21:45505213	COL18A1, SLC19A1	R1160H, R983H, R1395H	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102282322.	NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg) GRCh37: Chr21:46911163 GRCh38: Chr21:45491249	COL18A1	G1113R, G698R, G878R	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100175423.	NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) GRCh37: Chr21:46925126 GRCh38: Chr21:45505212	COL18A1, SLC19A1	R1160C, R1395C, R983C	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62334924.	NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) GRCh37: Chr21:46925150-46925159 GRCh38: Chr21:45505236-45505245	SLC19A1, COL18A1	P1405fs, P1170fs, P993fs	not provided, Knobloch syndrome	Pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51530525.	NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=) GRCh37: Chr21:46911174 GRCh38: Chr21:45491260	COL18A1		not specified, not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44712526.	NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) GRCh37: Chr21:46925294 GRCh38: Chr21:45505380	COL18A1, SLC19A1		not specified, not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44600827.	NM_001379500.1(COL18A1):c.2032-9T>A GRCh37: Chr21:46910741 GRCh38: Chr21:45490827	COL18A1		not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44597328.	NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) GRCh37: Chr21:46923943-46923945 GRCh38: Chr21:45504029-45504031	COL18A1, SLC19A1	L1082del, L1317del	not provided, Glaucoma, primary closed-angle, Knobloch syndrome 1, not specified	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40372229.	NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) GRCh37: Chr21:46917558-46917559 GRCh38: Chr21:45497644-45497645	COL18A1	G1072fs, G1307fs, G892fs	not provided, Knobloch syndrome 1, Knobloch syndrome	Pathogenic (Oct 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34025430.	NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) GRCh37: Chr21:46923934 GRCh38: Chr21:45504020	COL18A1, SLC19A1	P1078L, P1313L	Knobloch syndrome, Knobloch syndrome 1, Glaucoma, primary closed-angle, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34019731.	NM_001379500.1(COL18A1):c.613G>A (p.Val205Met) GRCh37: Chr21:46888662 GRCh38: Chr21:45468748	COL18A1	V385M, V620M	Knobloch syndrome, not provided, Knobloch syndrome 1, Glaucoma, primary closed-angle	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6541032.	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) GRCh37: Chr21:46930005-46930006 GRCh38: Chr21:45510091-45510092	COL18A1, SLC19A1	L1352fs, L1587fs, L1175fs	Knobloch syndrome, Retinal dystrophy, Glaucoma, primary closed-angle, Knobloch syndrome 1, Knobloch syndrome 1, not provided, Glaucoma, primary closed-angle	Pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 32