ClinVar for MedGen (Select 288328) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1331373	NM_000428.3(LTBP2):c.2428+1G>A	LTBP2	Single nucleotide variant (splice donor variant)	Microspherophakia	GLikely pathogenic
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 988083	NM_000428.3(LTBP2):c.2240A>G (p.Glu747Gly)	LTBP2 (E747G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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)	Glaucoma 3, primary congenital, D +5 more	GConflicting classifications of pathogenicity
Select item 487460	NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])	LTBP2	Duplication (inframe_insertion)	not provided +4 more	GConflicting classifications of pathogenicity
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 31630	NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)	LTBP2 (C1438Y)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GLikely pathogenic
Select item 31629	NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter)	LTBP2 (Q1619*)	Single nucleotide variant (nonsense)	Microspherophakia	GPathogenic
Select item 31628	NM_000428.3(LTBP2):c.1012del (p.Ser338fs)	LTBP2 (S338fs)	Deletion (frameshift variant)	Microspherophakia	GPathogenic
Select item 31627	NM_000428.3(LTBP2):c.1796dup (p.Val600fs)	LTBP2 (V600fs)	Duplication (frameshift variant)	Microspherophakia	GPathogenic
Select item 7558	NM_000428.3(LTBP2):c.5446dup (p.His1816fs)	LTBP2 (H1816fs)	Duplication (frameshift variant)	Microspherophakia	GPathogenic
Select item 7554	NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)	LTBP2 (R299*)	Single nucleotide variant (nonsense)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +1 more	GPathogenic