C2751316[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 13

	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)	Glaucoma 3, primary congenital, D +5 more	GUncertain significance
Select item 314272	NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)	LTBP2 (V1506M)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +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)	Weill-Marchesani syndrome 3 +4 more	GConflicting classifications of pathogenicity
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 785818	NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)	LTBP2 (A1204V)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +5 more	GConflicting classifications of pathogenicity
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 1362045	NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu)	LTBP2 (Q671L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +4 more	GUncertain significance
Select item 828006	NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly)	LTBP2 (R660G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 725005	NM_000428.3(LTBP2):c.1399+10G>T	LTBP2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126949	NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	LTBP2 (P432L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 487460	NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])	LTBP2	Duplication (inframe_insertion)	LTBP2-related condition +5 more	GConflicting classifications of pathogenicity
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 487467	NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln)	LTBP2 (E74Q)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +5 more	GUncertain significance