"Ambry Genetics"[submitter] AND "LTBP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2178253	NM_000428.3(LTBP2):c.5366T>C (p.Val1789Ala)	LTBP2 (V1789A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2184634	NM_000428.3(LTBP2):c.5337T>A (p.Asp1779Glu)	LTBP2 (D1779E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2226312	NM_000428.3(LTBP2):c.5254C>T (p.Arg1752Trp)	LTBP2 (R1752W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930251	NM_000428.3(LTBP2):c.5240G>A (p.Arg1747His)	LTBP2 (R1747H)	Single nucleotide variant (missense variant)	not provided +1 more	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 3121443	NM_000428.3(LTBP2):c.5201C>T (p.Ala1734Val)	LTBP2 (A1734V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298904	NM_000428.3(LTBP2):c.5188G>A (p.Glu1730Lys)	LTBP2 (E1730K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3292232	NM_000428.3(LTBP2):c.5132C>T (p.Pro1711Leu)	LTBP2 (P1711L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301080	NM_000428.3(LTBP2):c.5116G>C (p.Glu1706Gln)	LTBP2 (E1706Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384835	NM_000428.3(LTBP2):c.5050G>A (p.Asp1684Asn)	LTBP2 (D1684N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063967	NM_000428.3(LTBP2):c.5047G>A (p.Glu1683Lys)	LTBP2 (E1683K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3292225	NM_000428.3(LTBP2):c.5014G>A (p.Asp1672Asn)	LTBP2 (D1672N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200878	NM_000428.3(LTBP2):c.4984G>A (p.Asp1662Asn)	LTBP2 (D1662N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421505	NM_000428.3(LTBP2):c.4954C>T (p.Arg1652Trp)	LTBP2 (R1652W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1490083	NM_000428.3(LTBP2):c.4945G>A (p.Val1649Ile)	LTBP2 (V1649I)	Single nucleotide variant (missense variant)	not provided +1 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 1448484	NM_000428.3(LTBP2):c.4843G>A (p.Glu1615Lys)	LTBP2 (E1615K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1487634	NM_000428.3(LTBP2):c.4807C>T (p.Arg1603Cys)	LTBP2 (R1603C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510329	NM_000428.3(LTBP2):c.4772C>A (p.Thr1591Asn)	LTBP2 (T1591N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421992	NM_000428.3(LTBP2):c.4718C>T (p.Thr1573Met)	LTBP2 (T1573M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2427811	NM_000428.3(LTBP2):c.4693C>T (p.Arg1565Cys)	LTBP2 (R1565C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1350419	NM_000428.3(LTBP2):c.4660A>G (p.Ser1554Gly)	LTBP2 (S1554G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887742	NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg)	LTBP2 (L1512R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2598725	NM_000428.3(LTBP2):c.4501C>T (p.Arg1501Trp)	LTBP2 (R1501W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1415844	NM_000428.3(LTBP2):c.4493C>T (p.Pro1498Leu)	LTBP2 (P1498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3292229	NM_000428.3(LTBP2):c.4466G>A (p.Cys1489Tyr)	LTBP2 (C1489Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149514	NM_000428.3(LTBP2):c.4445T>C (p.Met1482Thr)	LTBP2 (M1482T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1431951	NM_000428.3(LTBP2):c.4324G>A (p.Ala1442Thr)	LTBP2 (A1442T)	Single nucleotide variant (missense variant)	not provided +1 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 3121442	NM_000428.3(LTBP2):c.4273A>C (p.Ser1425Arg)	LTBP2 (S1425R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991403	NM_000428.3(LTBP2):c.4273A>G (p.Ser1425Gly)	LTBP2 (S1425G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1486737	NM_000428.3(LTBP2):c.4262C>T (p.Ala1421Val)	LTBP2 (A1421V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619662	NM_000428.3(LTBP2):c.4261G>T (p.Ala1421Ser)	LTBP2 (A1421S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932661	NM_000428.3(LTBP2):c.4181A>G (p.Gln1394Arg)	LTBP2 (Q1394R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2073349	NM_000428.3(LTBP2):c.4147G>A (p.Glu1383Lys)	LTBP2 (E1383K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1585184	NM_000428.3(LTBP2):c.4138G>C (p.Asp1380His)	LTBP2 (D1380H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2319319	NM_000428.3(LTBP2):c.4123G>A (p.Asp1375Asn)	LTBP2 (D1375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417223	NM_000428.3(LTBP2):c.4090G>A (p.Val1364Met)	LTBP2 (V1364M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356685	NM_000428.3(LTBP2):c.4061C>T (p.Ala1354Val)	LTBP2 (A1354V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2213011	NM_000428.3(LTBP2):c.4036G>A (p.Val1346Met)	LTBP2 (V1346M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292227	NM_000428.3(LTBP2):c.4010C>T (p.Ser1337Phe)	LTBP2 (S1337F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220254	NM_000428.3(LTBP2):c.3979C>T (p.Arg1327Cys)	LTBP2 (R1327C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121440	NM_000428.3(LTBP2):c.3969T>A (p.Asp1323Glu)	LTBP2 (D1323E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371340	NM_000428.3(LTBP2):c.3931A>C (p.Thr1311Pro)	LTBP2 (T1311P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2076170	NM_000428.3(LTBP2):c.3895G>A (p.Gly1299Arg)	LTBP2 (G1299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2186180	NM_000428.3(LTBP2):c.3857T>C (p.Val1286Ala)	LTBP2 (V1286A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429479	NM_000428.3(LTBP2):c.3837C>A (p.Ser1279Arg)	LTBP2 (S1279R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1375984	NM_000428.3(LTBP2):c.3622G>A (p.Val1208Ile)	LTBP2 (V1208I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2159999	NM_000428.3(LTBP2):c.3575G>C (p.Cys1192Ser)	LTBP2 (C1192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1387221	NM_000428.3(LTBP2):c.3553C>T (p.His1185Tyr)	LTBP2 (H1185Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2160000	NM_000428.3(LTBP2):c.3518T>C (p.Val1173Ala)	LTBP2 (V1173A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243661	NM_000428.3(LTBP2):c.3497T>C (p.Phe1166Ser)	LTBP2 (F1166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547670	NM_000428.3(LTBP2):c.3388G>A (p.Gly1130Ser)	LTBP2 (G1130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183729	NM_000428.3(LTBP2):c.3368G>T (p.Gly1123Val)	LTBP2 (G1123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1943472	NM_000428.3(LTBP2):c.3149A>G (p.Gln1050Arg)	LTBP2 (Q1050R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 314288	NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile)	LTBP2 (T1016I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +3 more	GUncertain significance
Select item 3292223	NM_000428.3(LTBP2):c.3029A>T (p.Asp1010Val)	LTBP2 (D1010V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479252	NM_000428.3(LTBP2):c.3020G>T (p.Ser1007Ile)	LTBP2 (S1007I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292228	NM_000428.3(LTBP2):c.3004C>G (p.Arg1002Gly)	LTBP2 (R1002G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463123	NM_000428.3(LTBP2):c.2881A>T (p.Ile961Phe)	LTBP2 (I961F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1436694	NM_000428.3(LTBP2):c.2860T>A (p.Cys954Ser)	LTBP2 (C954S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 314292	NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile)	LTBP2 (T946I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +3 more	GUncertain significance
Select item 3292224	NM_000428.3(LTBP2):c.2836A>G (p.Thr946Ala)	LTBP2 (T946A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1368142	NM_000428.3(LTBP2):c.2813G>A (p.Gly938Glu)	LTBP2 (G938E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303492	NM_000428.3(LTBP2):c.2795A>C (p.Asn932Thr)	LTBP2 (N932T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328366	NM_000428.3(LTBP2):c.2794A>G (p.Asn932Asp)	LTBP2 (N932D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296462	NM_000428.3(LTBP2):c.2786A>C (p.Gln929Pro)	LTBP2 (Q929P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516457	NM_000428.3(LTBP2):c.2714G>A (p.Arg905His)	LTBP2 (R905H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3292230	NM_000428.3(LTBP2):c.2705G>A (p.Cys902Tyr)	LTBP2 (C902Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121438	NM_000428.3(LTBP2):c.2602T>A (p.Tyr868Asn)	LTBP2 (Y868N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1900525	NM_000428.3(LTBP2):c.2596G>A (p.Asp866Asn)	LTBP2 (D866N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2525215	NM_000428.3(LTBP2):c.2552G>A (p.Gly851Glu)	LTBP2 (G851E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1521783	NM_000428.3(LTBP2):c.2525C>T (p.Thr842Ile)	LTBP2 (T842I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 2364053	NM_000428.3(LTBP2):c.2503G>A (p.Asp835Asn)	LTBP2 (D835N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121437	NM_000428.3(LTBP2):c.2500A>G (p.Thr834Ala)	LTBP2 (T834A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482578	NM_000428.3(LTBP2):c.2462G>A (p.Gly821Glu)	LTBP2 (G821E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887999	NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile)	LTBP2 (V776I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 2206669	NM_000428.3(LTBP2):c.2233G>A (p.Glu745Lys)	LTBP2 (E745K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325912	NM_000428.3(LTBP2):c.2191A>G (p.Thr731Ala)	LTBP2 (T731A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484116	NM_000428.3(LTBP2):c.2177C>A (p.Ala726Asp)	LTBP2 (A726D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401883	NM_000428.3(LTBP2):c.2122G>A (p.Glu708Lys)	LTBP2 (E708K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314303	NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser)	LTBP2 (G681S)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 3292231	NM_000428.3(LTBP2):c.2030C>T (p.Ser677Leu)	LTBP2 (S677L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1900926	NM_000428.3(LTBP2):c.2027G>A (p.Arg676Gln)	LTBP2 (R676Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1488605	NM_000428.3(LTBP2):c.1957A>T (p.Met653Leu)	LTBP2 (M653L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3121435	NM_000428.3(LTBP2):c.1825C>T (p.Pro609Ser)	LTBP2 (P609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121434	NM_000428.3(LTBP2):c.1778C>T (p.Pro593Leu)	LTBP2 (P593L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614870	NM_000428.3(LTBP2):c.1691C>T (p.Ala564Val)	LTBP2 (A564V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121433	NM_000428.3(LTBP2):c.1658G>A (p.Arg553Gln)	LTBP2 (R553Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121431	NM_000428.3(LTBP2):c.1634C>T (p.Pro545Leu)	LTBP2 (P545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431338	NM_000428.3(LTBP2):c.1609C>G (p.Pro537Ala)	LTBP2 (P537A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315414	NM_000428.3(LTBP2):c.1595G>A (p.Arg532Gln)	LTBP2 (R532Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1916487	NM_000428.3(LTBP2):c.1535C>T (p.Pro512Leu)	LTBP2 (P512L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2518232	NM_000428.3(LTBP2):c.1465C>T (p.His489Tyr)	LTBP2 (H489Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080484	NM_000428.3(LTBP2):c.1450G>A (p.Ala484Thr)	LTBP2 (A484T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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