LTBP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 1706775	NC_000014.9:g.74498031G>A	LTBP2	Single nucleotide variant	not provided	GLikely benign
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 1944293	NM_000428.3(LTBP2):c.5463G>A (p.Glu1821=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475978	NM_000428.3(LTBP2):c.5463G>C (p.Glu1821Asp)	LTBP2 (E1821D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7558	NM_000428.3(LTBP2):c.5446dup (p.His1816fs)	LTBP2 (H1816fs)	Duplication (frameshift variant)	Microspherophakia	GPathogenic
Select item 1948662	NM_000428.3(LTBP2):c.5441C>T (p.Pro1814Leu)	LTBP2 (P1814L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901835	NM_000428.3(LTBP2):c.5424T>C (p.Tyr1808=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834177	NM_000428.3(LTBP2):c.5421A>C (p.Gly1807=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749586	NM_000428.3(LTBP2):c.5418G>C (p.Pro1806=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360562	NM_000428.3(LTBP2):c.5418G>A (p.Pro1806=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467459	NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)	LTBP2 (P1806L)	Single nucleotide variant (missense variant)	Glaucoma 3, primary infantile, B +4 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 1483464	NM_000428.3(LTBP2):c.5380G>A (p.Glu1794Lys)	LTBP2 (E1794K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983254	NM_000428.3(LTBP2):c.5379C>T (p.Cys1793=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 126959	NM_000428.3(LTBP2):c.5376del (p.Cys1793fs)	LTBP2 (C1793fs)	Deletion (frameshift variant)	Glaucoma 3A +1 more	GPathogenic
Select item 2178253	NM_000428.3(LTBP2):c.5366T>C (p.Val1789Ala)	LTBP2 (V1789A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1467876	NM_000428.3(LTBP2):c.5365G>C (p.Val1789Leu)	LTBP2 (V1789L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1531077	NM_000428.3(LTBP2):c.5364T>C (p.Cys1788=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885418	NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg)	LTBP2 (G1783R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +3 more	GUncertain significance
Select item 2185048	NM_000428.3(LTBP2):c.5346C>T (p.Asn1782=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191548	NM_000428.3(LTBP2):c.5343G>C (p.Leu1781Phe)	LTBP2 (L1781F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184634	NM_000428.3(LTBP2):c.5337T>A (p.Asp1779Glu)	LTBP2 (D1779E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467518	NM_000428.3(LTBP2):c.5327_5330del (p.Asn1776fs)	LTBP2 (N1776fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2733709	NM_000428.3(LTBP2):c.5321-14T>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667913	NM_000428.3(LTBP2):c.5321-16C>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218125	NM_000428.3(LTBP2):c.5320+144G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635412	NM_000428.3(LTBP2):c.5320+10G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766457	NM_000428.3(LTBP2):c.5312C>T (p.Ala1771Val)	LTBP2 (A1771V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399734	NM_000428.3(LTBP2):c.5300C>T (p.Ala1767Val)	LTBP2 (A1767V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 1946978	NM_000428.3(LTBP2):c.5293C>T (p.Leu1765=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115737	NM_000428.3(LTBP2):c.5290C>A (p.Gln1764Lys)	LTBP2 (Q1764K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789497	NM_000428.3(LTBP2):c.5264_5287del (p.Tyr1755_Gly1762del)	LTBP2	Deletion (inframe_deletion)	not provided	GPathogenic
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 1664066	NM_000428.3(LTBP2):c.5265C>T (p.Tyr1755=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226312	NM_000428.3(LTBP2):c.5254C>T (p.Arg1752Trp)	LTBP2 (R1752W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421500	NM_000428.3(LTBP2):c.5250C>T (p.Arg1750=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635386	NM_000428.3(LTBP2):c.5233_5249del (p.Asn1745fs)	LTBP2 (N1745fs)	Deletion (frameshift variant)	LTBP2-related condition	GLikely pathogenic
Select item 1930251	NM_000428.3(LTBP2):c.5240G>A (p.Arg1747His)	LTBP2 (R1747H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553914	NM_000428.3(LTBP2):c.5239C>A (p.Arg1747Ser)	LTBP2 (R1747S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2910357	NM_000428.3(LTBP2):c.5235T>G (p.Asn1745Lys)	LTBP2 (N1745K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1991354	NM_000428.3(LTBP2):c.5224G>A (p.Gly1742Ser)	LTBP2 (G1742S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486297	NM_000428.3(LTBP2):c.5224G>C (p.Gly1742Arg)	LTBP2 (G1742R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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