ClinVar for MedGen (Select 766699) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500056	NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)	LTBP2 (G1314S)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +2 more	GUncertain significance
Select item 1601762	NM_000428.3(LTBP2):c.4888+18G>A	LTBP2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1514082	NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)	LTBP2 (G1416R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +4 more	GUncertain significance
Select item 1510194	NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)	LTBP2 (P317L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1507148	NM_000428.3(LTBP2):c.2389-2A>G	LTBP2	Single nucleotide variant (splice acceptor variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +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 1481517	NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)	LTBP2 (T1505A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1467459	NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)	LTBP2 (P1806L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +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 infantile, B +4 more	GUncertain significance
Select item 1380286	NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 1365526	NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1])	LTBP2	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1362045	NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu)	LTBP2 (Q671L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +4 more	GUncertain significance
Select item 1357924	NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)	LTBP2 (P1626L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +5 more	GUncertain significance
Select item 1354646	NM_000428.3(LTBP2):c.654C>T (p.Cys218=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +4 more	GConflicting classifications of pathogenicity
Select item 1307743	NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)	LTBP2 (G496D)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +5 more	GUncertain significance
Select item 1293672	NM_000428.3(LTBP2):c.1987+21G>A	LTBP2	Single nucleotide variant (intron variant)	Microspherophakia +2 more	GBenign
Select item 1248819	NM_000428.3(LTBP2):c.1864+22C>A	LTBP2	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 3 +2 more	GBenign
Select item 1174683	NM_000428.3(LTBP2):c.2502T>C (p.Thr834=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 973342	NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)	LTBP2 (D1141E)	Single nucleotide variant (missense variant)	Microspherophakia +3 more	GUncertain significance
Select item 887878	NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)	LTBP2 (G1106R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary infantile, B +4 more	GUncertain significance
Select item 886736	NM_000428.3(LTBP2):c.2388+8C>T	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary congenital, D +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)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 828006	NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly)	LTBP2 (R660G)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +5 more	GUncertain significance
Select item 785818	NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)	LTBP2 (A1204V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 737480	NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)	LTBP2 (A1358S)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +3 more	GConflicting classifications of pathogenicity
Select item 731625	NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)	LTBP2 (P262L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +4 more	GBenign
Select item 725005	NM_000428.3(LTBP2):c.1399+10G>T	LTBP2	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +4 more	GConflicting classifications of pathogenicity
Select item 595867	NM_000428.3(LTBP2):c.1686+3G>A	LTBP2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 487467	NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln)	LTBP2 (E74Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 487461	NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr)	LTBP2 (P537T)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3	GUncertain significance
Select item 487460	NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])	LTBP2	Duplication (inframe_insertion)	Weill-Marchesani syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 487459	NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser)	LTBP2 (T814S)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3	GUncertain significance
Select item 314324	NM_000428.3(LTBP2):c.-93C>T	LTBP2	Single nucleotide variant (5 prime UTR variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +4 more	GUncertain significance
Select item 314315	NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu)	LTBP2 (S273L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +3 more	GConflicting classifications of pathogenicity
Select item 314311	NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)	LTBP2 (P434L)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +6 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)	Inborn genetic diseases +6 more	GUncertain significance
Select item 314272	NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)	LTBP2 (V1506M)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +4 more	GConflicting classifications of pathogenicity
Select item 314264	NM_000428.3(LTBP2):c.*10dup	LTBP2	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 256097	NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 126958	NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)	LTBP2 (V1638M)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +4 more	GUncertain significance
Select item 126949	NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	LTBP2 (P432L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37093	NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)	LTBP2 (V1177M)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +1 more	GPathogenic

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Items: 45