ClinVar for MedGen (Select 331409) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1601762	NM_000428.3(LTBP2):c.4888+18G>A	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary congenital, D +4 more	GBenign
Select item 1514082	NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)	LTBP2 (G1416R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1510194	NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)	LTBP2 (P317L)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +5 more	GUncertain significance
Select item 1507148	NM_000428.3(LTBP2):c.2389-2A>G	LTBP2	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GLikely pathogenic
Select item 1503216	NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)	LTBP2 (T1591I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1488122	NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val)	CYP1B1 (D316V)	Single nucleotide variant (missense variant)	Congenital glaucoma +4 more	GUncertain significance
Select item 1481517	NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)	LTBP2 (T1505A)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +4 more	GUncertain significance
Select item 1467459	NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)	LTBP2 (P1806L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1463914	NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln)	LTBP2 (R1645Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1447800	NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)	LTBP2 (G1648R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary infantile, B +4 more	GUncertain significance
Select item 1427437	NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr)	LTBP2 (A920T)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +5 more	GUncertain significance
Select item 1380286	NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1357924	NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)	LTBP2 (P1626L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1354646	NM_000428.3(LTBP2):c.654C>T (p.Cys218=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1343424	NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe)	CYP1B1 (L345F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1335386	NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr)	CYP1B1 (A287T)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GConflicting classifications of pathogenicity
Select item 1329081	NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg)	CYP1B1 (Q144R)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 1322184	NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter)	CYP1B1 (E173*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 6 +3 more	GPathogenic
Select item 1307743	NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)	LTBP2 (G496D)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +5 more	GUncertain significance
Select item 1210852	NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)	CYP1B1 (D367fs)	Duplication (frameshift variant)	Glaucoma 3A +3 more	GLikely pathogenic
Select item 1172842	NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)	CYP1B1 (P193L)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +3 more	GLikely pathogenic
Select item 930655	NM_000428.3(LTBP2):c.3850C>T (p.Arg1284Cys)	LTBP2 (R1284C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898364	NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)	CYP1B1 (V198I)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity
Select item 897191	NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)	CYP1B1 (T234M)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +5 more	GConflicting classifications of pathogenicity
Select item 895383	NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu)	CYP1B1 (F123L)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 887878	NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)	LTBP2 (G1106R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +4 more	GUncertain significance
Select item 886736	NM_000428.3(LTBP2):c.2388+8C>T	LTBP2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 885925	NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg)	LTBP2 (Q196R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +5 more	GUncertain significance
Select item 813355	NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	CYP1B1	Deletion (inframe_deletion)	Glaucoma 3A +2 more	GPathogenic/Likely pathogenic
Select item 731625	NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)	LTBP2 (P262L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 595867	NM_000428.3(LTBP2):c.1686+3G>A	LTBP2	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 523943	NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	CYP1B1 (A179fs)	Deletion (frameshift variant)	Glaucoma 3A +6 more	GPathogenic
Select item 402578	NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp)	CYP1B1 (G168D)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 335958	NM_000104.4(CYP1B1):c.-2G>A	CYP1B1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GUncertain significance
Select item 314324	NM_000428.3(LTBP2):c.-93C>T	LTBP2	Single nucleotide variant (5 prime UTR variant)	Weill-Marchesani syndrome +4 more	GUncertain significance
Select item 314311	NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)	LTBP2 (P434L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +6 more	GConflicting classifications of pathogenicity
Select item 314305	NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu)	LTBP2 (P599L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary infantile, B +3 more	GConflicting classifications of pathogenicity
Select item 314295	NM_000428.3(LTBP2):c.2788+14G>A	LTBP2	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +5 more	GConflicting classifications of pathogenicity
Select item 314275	NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)	LTBP2 (R1429W)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +6 more	GUncertain significance
Select item 314264	NM_000428.3(LTBP2):c.*10dup	LTBP2	Duplication (3 prime UTR variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +5 more	GUncertain significance
Select item 265390	NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	CYP1B1	Deletion (nonsense)	Anterior segment dysgenesis 6 +4 more	GPathogenic/Likely pathogenic
Select item 225333	NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu)	CYP1B1 (V320L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 166969	NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)	CYP1B1, LOC128772254 (N453S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +5 more	GBenign/Likely benign
Select item 126958	NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)	LTBP2 (V1638M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 92437	NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)	CYP1B1 (A119S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 7737	NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Congenital glaucoma +5 more	GPathogenic/Likely pathogenic

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Items: 46