LAMB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 1208455	NM_002291.3(LAMB1):c.*85A>G	LAMB1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1294643	NM_002291.3(LAMB1):c.*30A>C	LAMB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1976810	NM_002291.3(LAMB1):c.5348G>A (p.Ser1783Asn)	LAMB1 (S1783N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561154	NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)	LAMB1 (S1783G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 1422179	NM_002291.3(LAMB1):c.5341G>A (p.Val1781Met)	LAMB1 (V1781M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912197	NM_002291.3(LAMB1):c.5336T>C (p.Val1779Ala)	LAMB1 (V1779A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509742	NM_002291.3(LAMB1):c.5325A>T (p.Ile1775=)	LAMB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2851557	NM_002291.3(LAMB1):c.5316A>T (p.Leu1772=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917371	NM_002291.3(LAMB1):c.5314C>T (p.Leu1772=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933864	NM_002291.3(LAMB1):c.5309C>T (p.Ser1770Leu)	LAMB1 (S1770L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496776	NM_002291.3(LAMB1):c.5305C>T (p.Arg1769Cys)	LAMB1 (R1769C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042978	NM_002291.3(LAMB1):c.5282T>G (p.Leu1761Ter)	LAMB1 (L1761*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1365195	NM_002291.3(LAMB1):c.5272G>T (p.Ala1758Ser)	LAMB1 (A1758S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444727	NM_002291.3(LAMB1):c.5272G>A (p.Ala1758Thr)	LAMB1 (A1758T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389369	NM_002291.3(LAMB1):c.5268T>C (p.Asp1756=)	LAMB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2747923	NM_002291.3(LAMB1):c.5253_5256dup (p.Tyr1753fs)	LAMB1 (Y1753fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3044523	NM_002291.3(LAMB1):c.5250T>C (p.Asn1750=)	LAMB1	Single nucleotide variant (synonymous variant)	LAMB1-related condition	GLikely benign
Select item 726971	NM_002291.3(LAMB1):c.5247C>T (p.Asp1749=)	LAMB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2088598	NM_002291.3(LAMB1):c.5245del (p.Asp1749fs)	LAMB1 (D1749fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1476236	NM_002291.3(LAMB1):c.5227T>A (p.Leu1743Ile)	LAMB1 (L1743I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506354	NM_002291.3(LAMB1):c.5225-6_5225-5del	LAMB1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 2185384	NM_002291.3(LAMB1):c.5225-12_5225-7del	LAMB1	Deletion (intron variant)	not provided	GLikely benign
Select item 369575	NM_002291.3(LAMB1):c.5225-7C>T	DLD, LAMB1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1673891	NM_002291.3(LAMB1):c.5225-9_5225-8insTATA	LAMB1	Insertion (intron variant)	not provided	GLikely benign
Select item 718052	NM_002291.3(LAMB1):c.5225-8C>A	LAMB1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 422541	NM_002291.3(LAMB1):c.5225-9_5225-8insTA	LAMB1	Insertion (intron variant)	not provided	GLikely benign
Select item 2183714	NM_002291.3(LAMB1):c.5225-22AT[7]	LAMB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 787672	NM_002291.3(LAMB1):c.5225-22AT[8]	LAMB1	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 380842	NM_002291.3(LAMB1):c.5225-10C>A	LAMB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1607537	NM_002291.3(LAMB1):c.5225-22AT[3]	LAMB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1203700	NM_002291.3(LAMB1):c.5225-22AT[4]	LAMB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1987572	NM_002291.3(LAMB1):c.5225-14A>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080529	NM_002291.3(LAMB1):c.5224+2T>C	LAMB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2113973	NM_002291.3(LAMB1):c.5203A>G (p.Ser1735Gly)	LAMB1 (S1735G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379346	NM_002291.3(LAMB1):c.5198C>G (p.Ala1733Gly)	LAMB1 (A1733G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054630	NM_002291.3(LAMB1):c.5194C>G (p.Gln1732Glu)	LAMB1 (Q1732E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366041	NM_002291.3(LAMB1):c.5188_5189del (p.Leu1730fs)	LAMB1 (L1730fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1966672	NM_002291.3(LAMB1):c.5187T>C (p.Leu1729=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523350	NM_002291.3(LAMB1):c.5182del (p.Thr1728fs)	LAMB1 (T1728fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2083370	NM_002291.3(LAMB1):c.5163G>C (p.Met1721Ile)	LAMB1 (M1721I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2724463	NM_002291.3(LAMB1):c.5158G>A (p.Glu1720Lys)	LAMB1 (E1720K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057247	NM_002291.3(LAMB1):c.5157C>T (p.Ala1719=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309430	NM_002291.3(LAMB1):c.5147G>A (p.Arg1716Lys)	LAMB1 (R1716K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499422	NM_002291.3(LAMB1):c.5093A>G (p.Tyr1698Cys)	LAMB1 (Y1698C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317901	NM_002291.3(LAMB1):c.5087A>G (p.Glu1696Gly)	LAMB1 (E1696G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441937	NM_002291.3(LAMB1):c.5069T>C (p.Leu1690Ser)	LAMB1 (L1690S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537078	NM_002291.3(LAMB1):c.5065-5T>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232572	NM_002291.3(LAMB1):c.5065-149T>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682993	NM_002291.3(LAMB1):c.5065-173T>G	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224270	NM_002291.3(LAMB1):c.5065-191A>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681226	NM_002291.3(LAMB1):c.5065-304G>A	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261449	NM_002291.3(LAMB1):c.5064+270_5064+271dup	LAMB1	Duplication (intron variant)	not provided	GBenign
Select item 1220899	NM_002291.3(LAMB1):c.5064+270dup	LAMB1	Duplication (intron variant)	not provided	GBenign
Select item 1191996	NM_002291.3(LAMB1):c.5064+282_5064+284del	LAMB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1244831	NM_002291.3(LAMB1):c.5064+269_5064+271del	LAMB1	Deletion (intron variant)	not provided	GBenign
Select item 682982	NM_002291.3(LAMB1):c.5064+198T>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682981	NM_002291.3(LAMB1):c.5064+140C>A	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211703	NM_002291.3(LAMB1):c.5064+107del	LAMB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1355670	NM_002291.3(LAMB1):c.5045G>A (p.Ser1682Asn)	LAMB1 (S1682N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1476358	NM_002291.3(LAMB1):c.5041C>G (p.Gln1681Glu)	LAMB1 (Q1681E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2971609	NM_002291.3(LAMB1):c.5034T>C (p.Thr1678=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092943	NM_002291.3(LAMB1):c.5034T>G (p.Thr1678=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011550	NM_002291.3(LAMB1):c.5017G>C (p.Glu1673Gln)	LAMB1 (E1673Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405862	NM_002291.3(LAMB1):c.5006C>A (p.Ala1669Glu)	LAMB1 (A1669E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981898	NM_002291.3(LAMB1):c.5002del (p.Glu1668fs)	LAMB1 (E1668fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 2203172	NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)	LAMB1 (G1667R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2187347	NM_002291.3(LAMB1):c.4998C>T (p.Ser1666=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2657934	NM_002291.3(LAMB1):c.4989C>T (p.Ala1663=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941034	NM_002291.3(LAMB1):c.4979G>A (p.Arg1660Gln)	LAMB1 (R1660Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417764	NM_002291.3(LAMB1):c.4978C>T (p.Arg1660Trp)	LAMB1 (R1660W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163370	NM_002291.3(LAMB1):c.4969G>A (p.Glu1657Lys)	LAMB1 (E1657K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1174739	NM_002291.3(LAMB1):c.4964T>C (p.Val1655Ala)	LAMB1 (V1655A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969237	NM_002291.3(LAMB1):c.4958G>C (p.Arg1653Thr)	LAMB1 (R1653T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721746	NM_002291.3(LAMB1):c.4947C>T (p.Ser1649=)	LAMB1	Single nucleotide variant (synonymous variant)	LAMB1-related condition +1 more	GLikely benign
Select item 1484370	NM_002291.3(LAMB1):c.4946G>A (p.Ser1649Asn)	LAMB1 (S1649N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900317	NM_002291.3(LAMB1):c.4939C>T (p.Arg1647Cys)	LAMB1 (R1647C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170942	NM_002291.3(LAMB1):c.4932G>A (p.Ala1644=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993048	NM_002291.3(LAMB1):c.4930G>A (p.Ala1644Thr)	LAMB1 (A1644T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386186	NM_002291.3(LAMB1):c.4929C>T (p.Asn1643=)	LAMB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3043192	NM_002291.3(LAMB1):c.4920C>A (p.Thr1640=)	LAMB1	Single nucleotide variant (synonymous variant)	LAMB1-related condition	GLikely benign
Select item 2062592	NM_002291.3(LAMB1):c.4920C>T (p.Thr1640=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364693	NM_002291.3(LAMB1):c.4916A>C (p.Glu1639Ala)	LAMB1 (E1639A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781110	NM_002291.3(LAMB1):c.4890T>C (p.Ile1630=)	LAMB1	Single nucleotide variant (synonymous variant)	LAMB1-related condition +1 more	GBenign
Select item 1067017	NM_002291.3(LAMB1):c.4888-1G>T	LAMB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1580874	NM_002291.3(LAMB1):c.4888-7C>T	LAMB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516912	NM_002291.3(LAMB1):c.4888-8G>A	LAMB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1630227	NM_002291.3(LAMB1):c.4888-15T>C	LAMB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257927	NM_002291.3(LAMB1):c.4888-282A>G	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177751	NM_002291.3(LAMB1):c.4887+275C>T	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237259	NM_002291.3(LAMB1):c.4887+196_4887+198del	LAMB1	Deletion (intron variant)	not provided	GBenign
Select item 683002	NM_002291.3(LAMB1):c.4887+95A>T	LAMB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380841	NM_002291.3(LAMB1):c.4879T>C (p.Leu1627=)	LAMB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2068817	NM_002291.3(LAMB1):c.4876C>T (p.Leu1626=)	LAMB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082451	NM_002291.3(LAMB1):c.4861C>T (p.Gln1621Ter)	LAMB1 (Q1621*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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