LAMB4[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 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 771727	NM_007356.3(LAMB4):c.5265del (p.Lys1755fs)	LAMB4 (K1755fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2328026	NM_007356.3(LAMB4):c.5233A>G (p.Ile1745Val)	LAMB4 (I1745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220962	NM_007356.3(LAMB4):c.5033G>A (p.Arg1678His)	LAMB4 (R1678H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2605094	NM_007356.3(LAMB4):c.4973A>G (p.Gln1658Arg)	LAMB4 (Q1658R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254027	NM_007356.3(LAMB4):c.4954G>C (p.Ala1652Pro)	LAMB4 (A1652P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378457	NM_007356.3(LAMB4):c.4883A>G (p.Glu1628Gly)	LAMB4 (E1628G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623983	NM_007356.3(LAMB4):c.4810G>A (p.Val1604Met)	LAMB4 (V1604M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594585	NM_007356.3(LAMB4):c.4800A>G (p.Ile1600Met)	LAMB4 (I1600M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522631	NM_007356.3(LAMB4):c.4781C>T (p.Thr1594Ile)	LAMB4 (T1594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382911	NM_007356.3(LAMB4):c.4736C>A (p.Ala1579Asp)	LAMB4 (A1579D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411379	NM_007356.3(LAMB4):c.4672G>A (p.Ala1558Thr)	LAMB4 (A1558T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223835	NM_007356.3(LAMB4):c.4610C>T (p.Thr1537Ile)	LAMB4 (T1537I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308284	NM_007356.3(LAMB4):c.4492G>C (p.Asp1498His)	LAMB4 (D1498H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398782	NM_007356.3(LAMB4):c.4453G>A (p.Val1485Met)	LAMB4 (V1485M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595359	NM_007356.3(LAMB4):c.4444A>C (p.Ile1482Leu)	LAMB4 (I1482L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768193	NM_007356.3(LAMB4):c.4394G>T (p.Gly1465Val)	LAMB4 (G1465V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2256505	NM_007356.3(LAMB4):c.4305G>C (p.Gln1435His)	LAMB4 (Q1435H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293875	NM_007356.3(LAMB4):c.4240C>T (p.Leu1414Phe)	LAMB4 (L1414F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309037	NM_007356.3(LAMB4):c.4237A>C (p.Thr1413Pro)	LAMB4 (T1413P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516731	NM_007356.3(LAMB4):c.4184C>A (p.Thr1395Lys)	LAMB4 (T1395K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622153	NM_007356.3(LAMB4):c.4103T>C (p.Ile1368Thr)	LAMB4 (I1368T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522457	NM_007356.3(LAMB4):c.3987T>A (p.Ser1329Arg)	LAMB4 (S1329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538980	NM_007356.3(LAMB4):c.3926A>G (p.Glu1309Gly)	LAMB4 (E1309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719020	NM_007356.3(LAMB4):c.3917-5C>T	LAMB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2366470	NM_007356.3(LAMB4):c.3895G>A (p.Val1299Ile)	LAMB4 (V1299I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407245	NM_007356.3(LAMB4):c.3893G>C (p.Ser1298Thr)	LAMB4 (S1298T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597241	NM_007356.3(LAMB4):c.3850C>T (p.Leu1284Phe)	LAMB4 (L1284F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770741	NM_007356.3(LAMB4):c.3777T>C (p.Asn1259=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777406	NM_007356.3(LAMB4):c.3731T>G (p.Val1244Gly)	LAMB4 (V1244G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746201	NM_007356.3(LAMB4):c.3649T>G (p.Phe1217Val)	LAMB4 (F1217V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2349631	NM_007356.3(LAMB4):c.3584G>T (p.Gly1195Val)	LAMB4 (G1195V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782494	NM_007356.3(LAMB4):c.3487C>A (p.Arg1163=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716085	NM_007356.3(LAMB4):c.3480C>T (p.Arg1160=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352890	NM_007356.3(LAMB4):c.3443G>T (p.Arg1148Leu)	LAMB4 (R1148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461097	NM_007356.3(LAMB4):c.3382T>C (p.Cys1128Arg)	LAMB4 (C1128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215286	NM_007356.3(LAMB4):c.3319G>A (p.Gly1107Arg)	LAMB4 (G1107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205879	NM_007356.3(LAMB4):c.3299C>T (p.Pro1100Leu)	LAMB4 (P1100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285009	NM_007356.3(LAMB4):c.3274T>C (p.Cys1092Arg)	LAMB4 (C1092R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462073	NM_007356.3(LAMB4):c.3188G>A (p.Arg1063His)	LAMB4 (R1063H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227468	NM_007356.3(LAMB4):c.3187C>T (p.Arg1063Cys)	LAMB4 (R1063C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774662	NM_007356.3(LAMB4):c.3168C>T (p.Val1056=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791162	NM_007356.3(LAMB4):c.3061+7C>G	LAMB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532787	NM_007356.3(LAMB4):c.3053C>T (p.Thr1018Ile)	LAMB4 (T1018I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401852	NM_007356.3(LAMB4):c.2956C>T (p.Arg986Trp)	LAMB4 (R986W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235785	NM_007356.3(LAMB4):c.2879C>T (p.Pro960Leu)	LAMB4 (P960L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298633	NM_007356.3(LAMB4):c.2848G>A (p.Gly950Arg)	LAMB4 (G950R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714355	NM_007356.3(LAMB4):c.2835G>A (p.Thr945=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719176	NM_007356.3(LAMB4):c.2784T>C (p.Tyr928=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616880	NM_007356.3(LAMB4):c.2726G>A (p.Arg909His)	LAMB4 (R909H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557026	NM_007356.3(LAMB4):c.2663G>A (p.Gly888Asp)	LAMB4 (G888D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390534	NM_007356.3(LAMB4):c.2642A>G (p.Asn881Ser)	LAMB4 (N881S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393909	NM_007356.3(LAMB4):c.2546G>A (p.Arg849His)	LAMB4 (R849H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245021	NM_007356.3(LAMB4):c.2485T>C (p.Cys829Arg)	LAMB4 (C829R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229269	NM_007356.3(LAMB4):c.2316C>A (p.His772Gln)	LAMB4 (H772Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623082	NM_007356.3(LAMB4):c.2275T>C (p.Ser759Pro)	LAMB4 (S759P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388998	NM_007356.3(LAMB4):c.2204G>A (p.Cys735Tyr)	LAMB4 (C735Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761643	NM_007356.3(LAMB4):c.2142A>G (p.Gln714=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622260	NM_007356.3(LAMB4):c.2122T>C (p.Ser708Pro)	LAMB4 (S708P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709156	NM_007356.3(LAMB4):c.2118G>A (p.Val706=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389677	NM_007356.3(LAMB4):c.2010G>T (p.Met670Ile)	LAMB4 (M670I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236831	NM_007356.3(LAMB4):c.1873C>T (p.His625Tyr)	LAMB4 (H625Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747612	NM_007356.3(LAMB4):c.1863C>T (p.Thr621=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377196	NM_007356.3(LAMB4):c.1862C>T (p.Thr621Ile)	LAMB4 (T621I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729634	NM_007356.3(LAMB4):c.1761T>C (p.Pro587=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2379214	NM_007356.3(LAMB4):c.1738G>A (p.Val580Ile)	LAMB4 (V580I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 787317	NM_007356.3(LAMB4):c.1713G>A (p.Thr571=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569033	NM_007356.3(LAMB4):c.1712C>T (p.Thr571Met)	LAMB4 (T571M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657942	NM_007356.3(LAMB4):c.1707G>A (p.Ser569=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466081	NM_007356.3(LAMB4):c.1706C>T (p.Ser569Leu)	LAMB4 (S569L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255085	NM_007356.3(LAMB4):c.1700T>G (p.Leu567Trp)	LAMB4 (L567W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602397	NM_007356.3(LAMB4):c.1582C>T (p.Arg528Cys)	LAMB4 (R528C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781111	NM_007356.3(LAMB4):c.1506G>A (p.Gly502=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395616	NM_007356.3(LAMB4):c.1447G>A (p.Gly483Arg)	LAMB4 (G483R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243407	NM_007356.3(LAMB4):c.1415C>T (p.Thr472Ile)	LAMB4 (T472I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256073	NM_007356.3(LAMB4):c.1403G>A (p.Cys468Tyr)	LAMB4 (C468Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456078	NM_007356.3(LAMB4):c.1379T>C (p.Leu460Pro)	LAMB4 (L460P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517594	NM_007356.3(LAMB4):c.1280A>G (p.Glu427Gly)	LAMB4 (E427G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493141	NM_007356.3(LAMB4):c.1213G>T (p.Gly405Cys)	LAMB4 (G405C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599092	NM_007356.3(LAMB4):c.1145C>T (p.Pro382Leu)	LAMB4 (P382L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404375	NM_007356.3(LAMB4):c.1069G>T (p.Gly357Cys)	LAMB4 (G357C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304693	NM_007356.3(LAMB4):c.1008C>A (p.Ser336Arg)	LAMB4 (S336R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466365	NM_007356.3(LAMB4):c.998G>C (p.Ser333Thr)	LAMB4 (S333T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758234	NM_007356.3(LAMB4):c.993G>A (p.Ser331=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467928	NM_007356.3(LAMB4):c.842G>A (p.Arg281Gln)	LAMB4 (R281Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235687	NM_007356.3(LAMB4):c.824G>T (p.Arg275Leu)	LAMB4 (R275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782495	NM_007356.3(LAMB4):c.819A>G (p.Glu273=)	LAMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212572	NM_007356.3(LAMB4):c.360A>T (p.Leu120Phe)	LAMB4 (L120F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206076	NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr)	LAMB4 (R117T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2393560	NM_007356.3(LAMB4):c.157A>G (p.Arg53Gly)	LAMB4 (R53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 709430	NM_007356.3(LAMB4):c.34+1G>A	LAMB4	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2543274	NM_007356.3(LAMB4):c.20T>A (p.Leu7His)	LAMB4 (L7H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062964	GRCh37/hg19 7q31.1(chr7:107733483-107776438)x1	LAMB4	Copy number loss	not specified	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance

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