LAMB2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1009

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 345970	NM_002292.4(LAMB2):c.*92A>G	LAMB2	Single nucleotide variant (3 prime UTR variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2433391	NM_002292.4(LAMB2):c.5394del (p.Gln1798fs)	LAMB2 (Q1798fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2689358	NM_002292.4(LAMB2):c.5390G>T (p.Cys1797Phe)	LAMB2 (C1797F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201339	NM_002292.4(LAMB2):c.5385C>T (p.Asn1795=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 444602	NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)	LAMB2 (I1793M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1919128	NM_002292.4(LAMB2):c.5355A>G (p.Gln1785=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 901821	NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe)	LAMB2 (L1784F)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1088162	NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2493777	NM_002292.4(LAMB2):c.5337G>C (p.Arg1779Ser)	LAMB2 (R1779S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627423	NM_002292.4(LAMB2):c.5332G>C (p.Ala1778Pro)	LAMB2 (A1778P)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome	GUncertain significance
Select item 1007841	NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys)	LAMB2 (E1777K)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2947277	NM_002292.4(LAMB2):c.5310A>T (p.Ala1770=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 1971920	NM_002292.4(LAMB2):c.5301G>A (p.Glu1767=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 258615	NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr)	LAMB2 (A1765T)	Single nucleotide variant (missense variant)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 345971	NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2556244	NM_002292.4(LAMB2):c.5281G>A (p.Glu1761Lys)	LAMB2 (E1761K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1360649	NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 1574630	NM_002292.4(LAMB2):c.5261-7T>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 1586162	NM_002292.4(LAMB2):c.5261-8C>T	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 1199749	NM_002292.4(LAMB2):c.5261-27C>G	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300956	NM_002292.4(LAMB2):c.5260+34G>A	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626510	NM_002292.4(LAMB2):c.5260+13G>A	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 2653825	NM_002292.4(LAMB2):c.5260+1G>T	LAMB2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 14531	NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)	LAMB2 (E1754fs)	Duplication (frameshift variant)	Pierson syndrome	GPathogenic
Select item 653426	NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln)	LAMB2 (L1752Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1589651	NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 472498	NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly)	LAMB2 (D1747G)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 902726	NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)	LAMB2 (A1745T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1550981	NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 1413385	NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro)	LAMB2 (A1744P)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 472497	NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val)	LAMB2 (A1738V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1437234	NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala)	LAMB2 (E1737A)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1618040	NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2090523	NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del)	LAMB2	Deletion (inframe_deletion)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2090524	NM_002292.4(LAMB2):c.5187A>T (p.Ala1729=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 1016756	NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val)	LAMB2 (A1729V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2634128	NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter)	LAMB2 (Q1728*)	Single nucleotide variant (nonsense)	LAMB2-related condition	GPathogenic
Select item 1587498	NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 472495	NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1395281	NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr)	LAMB2 (K1720T)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 966962	NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His)	LAMB2 (R1719H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 472494	NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys)	LAMB2 (R1719C)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 707650	NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2195150	NM_002292.4(LAMB2):c.5136G>A (p.Thr1712=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 851915	NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)	LAMB2 (T1712K)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 772703	NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 771553	NM_002292.4(LAMB2):c.5115T>G (p.Pro1705=)	LAMB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2925998	NM_002292.4(LAMB2):c.5109C>A (p.Arg1703=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 345972	NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1442178	NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His)	LAMB2 (R1703H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 2951667	NM_002292.4(LAMB2):c.5100+7T>A	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 2926809	NM_002292.4(LAMB2):c.5100+6T>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GUncertain significance
Select item 2927123	NM_002292.4(LAMB2):c.5061G>C (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 705704	NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +2 more	GLikely benign
Select item 472492	NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 191176	NM_002292.4(LAMB2):c.5056G>T (p.Glu1686Ter)	LAMB2 (E1686*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 345973	NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)	LAMB2 (A1680V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GUncertain significance
Select item 662750	NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile)	LAMB2 (G1676I)	Indel (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 345974	NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)	LAMB2 (G1676V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GBenign/Likely benign
Select item 345975	NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)	LAMB2 (G1676R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 345976	NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln)	LAMB2 (R1674Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1405752	NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp)	LAMB2 (R1674W)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 732272	NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 1634569	NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2050612	NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln)	LAMB2 (R1661Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2317956	NM_002292.4(LAMB2):c.4975A>G (p.Arg1659Gly)	LAMB2 (R1659G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472033	NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu)	LAMB2 (A1656E)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 2141330	NM_002292.4(LAMB2):c.4965T>G (p.Ser1655=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 472491	NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro)	LAMB2 (L1653P)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 901336	NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)	LAMB2 (A1652T)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1629160	NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln)	LAMB2 (R1651Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GLikely benign
Select item 859927	NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp)	LAMB2 (R1651W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2114566	NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val)	LAMB2 (G1648V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1418852	NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp)	LAMB2 (G1648D)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1170847	NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg)	LAMB2 (Q1643R)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GBenign
Select item 1653191	NM_002292.4(LAMB2):c.4924-11A>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 2926060	NM_002292.4(LAMB2):c.4924-15G>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 1218980	NM_002292.4(LAMB2):c.4924-35G>A	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258614	NM_002292.4(LAMB2):c.4923+17A>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +3 more	GBenign/Likely benign
Select item 2203391	NM_002292.4(LAMB2):c.4923+2T>G	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely pathogenic
Select item 2256835	NM_002292.4(LAMB2):c.4923+1G>T	LAMB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1015803	NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys)	LAMB2 (Y1640C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2927348	NM_002292.4(LAMB2):c.4908G>A (p.Glu1636=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2636231	NM_002292.4(LAMB2):c.4907_4908del (p.Glu1636fs)	LAMB2 (E1636fs)	Microsatellite (frameshift variant)	LAMB2-related condition	GLikely pathogenic
Select item 1333511	NM_002292.4(LAMB2):c.4904_4905del (p.Thr1635fs)	LAMB2 (T1635fs)	Microsatellite (frameshift variant)	LAMB2-related infantile-onset nephrotic syndrome	GPathogenic
Select item 2062359	NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln)	LAMB2 (R1633Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1505351	NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp)	LAMB2 (R1633W)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1036192	NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr)	LAMB2 (A1630T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2585397	NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)	LAMB2 (A1628fs)	Duplication (frameshift variant)	Pierson syndrome	GLikely pathogenic
Select item 1053084	NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr)	LAMB2 (A1628T)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 258613	NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 639510	NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln)	LAMB2 (R1626Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 472490	NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro)	LAMB2 (R1626P)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1023301	NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn)	LAMB2 (I1625N)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2241629	NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)	LAMB2 (G1623S)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 1097991	NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 1467022	NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val)	LAMB2 (I1620V)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1474480	NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp)	LAMB2 (G1619D)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance

<< First< Prev

Page of 11