"Illumina Laboratory Services, Illumina"[submitter] AND "LTBP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886320	NM_000428.3(LTBP2):c.*2684A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 886321	NM_000428.3(LTBP2):c.*2569G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886322	NM_000428.3(LTBP2):c.*2463G>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +2 more	GBenign/Likely benign
Select item 886323	NM_000428.3(LTBP2):c.*2419C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887315	NM_000428.3(LTBP2):c.*2363A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GConflicting classifications of pathogenicity
Select item 314242	NM_000428.3(LTBP2):c.*2353T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314243	NM_000428.3(LTBP2):c.*2266G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887316	NM_000428.3(LTBP2):c.*2236C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887500	NM_000428.3(LTBP2):c.*2153T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +2 more	GBenign/Likely benign
Select item 887501	NM_000428.3(LTBP2):c.*2112G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887502	NM_000428.3(LTBP2):c.*2044G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 314244	NM_000428.3(LTBP2):c.*2026T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314245	NM_000428.3(LTBP2):c.*1957A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GBenign
Select item 884352	NM_000428.3(LTBP2):c.*1873C>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 314246	NM_000428.3(LTBP2):c.*1818C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign
Select item 884353	NM_000428.3(LTBP2):c.*1777A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 886375	NM_000428.3(LTBP2):c.*1776C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 314247	NM_000428.3(LTBP2):c.*1743C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314248	NM_000428.3(LTBP2):c.*1631C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 314249	NM_000428.3(LTBP2):c.1518_1520dup	LTBP2	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 886376	NM_000428.3(LTBP2):c.*1481C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886377	NM_000428.3(LTBP2):c.*1427A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GConflicting classifications of pathogenicity
Select item 887370	NM_000428.3(LTBP2):c.*1393T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314251	NM_000428.3(LTBP2):c.*1302G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 314250	NM_000428.3(LTBP2):c.*1302G>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314252	NM_000428.3(LTBP2):c.*1180C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314253	NM_000428.3(LTBP2):c.*1170A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887566	NM_000428.3(LTBP2):c.*1029G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887567	NM_000428.3(LTBP2):c.*1005C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 884413	NM_000428.3(LTBP2):c.*945T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GConflicting classifications of pathogenicity
Select item 884414	NM_000428.3(LTBP2):c.*929A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314254	NM_000428.3(LTBP2):c.*824C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +2 more	GBenign
Select item 314255	NM_000428.3(LTBP2):c.*743G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 884415	NM_000428.3(LTBP2):c.*742C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 885343	NM_000428.3(LTBP2):c.*705C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314256	NM_000428.3(LTBP2):c.*638T>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 885344	NM_000428.3(LTBP2):c.*609A>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 885345	NM_000428.3(LTBP2):c.*397C>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887439	NM_000428.3(LTBP2):c.*384G>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 314257	NM_000428.3(LTBP2):c.*373A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887440	NM_000428.3(LTBP2):c.*316C>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887441	NM_000428.3(LTBP2):c.*312T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314258	NM_000428.3(LTBP2):c.*233A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314259	NM_000428.3(LTBP2):c.*229C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314260	NM_000428.3(LTBP2):c.*206C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314261	NM_000428.3(LTBP2):c.*167G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314262	NM_000428.3(LTBP2):c.*147A>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 884477	NM_000428.3(LTBP2):c.*119C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 314263	NM_000428.3(LTBP2):c.*55G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314264	NM_000428.3(LTBP2):c.*10dup	LTBP2	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 884478	NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg)	LTBP2 (C1804R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 885417	NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)	LTBP2 (R1801H)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 885418	NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg)	LTBP2 (G1783R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 314265	NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr)	LTBP2 (D1766Y)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 314266	NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe)	LTBP2 (C1757F)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314267	NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg)	LTBP2 (C1757R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 886436	NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val)	LTBP2 (I1739V)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 731624	NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886437	NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser)	LTBP2 (G1728S)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887686	NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 887687	NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met)	LTBP2 (V1719M)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 887688	NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile)	LTBP2 (V1686I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 884539	NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 884540	NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 314268	NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys)	LTBP2 (Y1655C)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 884541	NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu)	LTBP2 (R1652L)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 732225	NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 314269	NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 314270	NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 885477	NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His)	LTBP2 (R1603H)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 256099	NM_000428.3(LTBP2):c.4782G>A (p.Val1594=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +3 more	GBenign
Select item 771904	NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)	LTBP2 (V1590A)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 886496	NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314271	NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)	LTBP2 (E1541K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 788707	NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887742	NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg)	LTBP2 (L1512R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 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 314273	NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 314274	NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=)	LTBP2	Single nucleotide variant (synonymous variant)	LTBP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 884603	NM_000428.3(LTBP2):c.4370-14G>A	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 773556	NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln)	LTBP2 (R1429Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
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 779689	NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GBenign/Likely benign
Select item 885538	NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg)	LTBP2 (M1411R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 314276	NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=)	LTBP2	Single nucleotide variant (synonymous variant)	LTBP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 885539	NM_000428.3(LTBP2):c.4178-6G>A	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 885540	NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys)	LTBP2 (R1387C)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 314277	NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
Select item 886562	NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr)	LTBP2 (A1359T)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 886563	NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 314278	NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 784290	NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
Select item 314279	NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His)	LTBP2 (R1284H)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 887816	NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp)	LTBP2 (G1272D)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 732472	NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +3 more	GConflicting classifications of pathogenicity
Select item 314280	NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=)	LTBP2	Single nucleotide variant (synonymous variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 884668	NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys)	LTBP2 (E1237K)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 723541	NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884669	NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp)	LTBP2 (G1212W)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +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

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