"Ambry Genetics"[submitter] AND "LAMB3"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2215370	NM_000228.3(LAMB3):c.3491G>A (p.Arg1164His)	LAMB3 (R1164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488589	NM_000228.3(LAMB3):c.3457C>A (p.Arg1153Ser)	LAMB3 (R1153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546624	NM_000228.3(LAMB3):c.3434C>T (p.Ala1145Val)	LAMB3 (A1145V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2311552	NM_000228.3(LAMB3):c.3334G>A (p.Ala1112Thr)	LAMB3 (A1112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875972	NM_000228.3(LAMB3):c.3323T>G (p.Val1108Gly)	LAMB3 (V1108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2558905	NM_000228.3(LAMB3):c.3293T>C (p.Leu1098Pro)	LAMB3 (L1098P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595830	NM_000228.3(LAMB3):c.3280C>A (p.Gln1094Lys)	LAMB3 (Q1094K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592555	NM_000228.3(LAMB3):c.3272G>A (p.Arg1091Gln)	LAMB3 (R1091Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406937	NM_000228.3(LAMB3):c.3218G>A (p.Ser1073Asn)	LAMB3 (S1073N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381444	NM_000228.3(LAMB3):c.3212C>A (p.Ala1071Glu)	LAMB3 (A1071E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241104	NM_000228.3(LAMB3):c.3191C>T (p.Ala1064Val)	LAMB3 (A1064V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295069	NM_000228.3(LAMB3):c.3151C>T (p.Arg1051Trp)	LAMB3 (R1051W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2260755	NM_000228.3(LAMB3):c.3136C>T (p.Leu1046Phe)	LAMB3 (L1046F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512509	NM_000228.3(LAMB3):c.3089C>T (p.Thr1030Ile)	LAMB3 (T1030I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370275	NM_000228.3(LAMB3):c.3067C>T (p.Arg1023Trp)	LAMB3 (R1023W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265713	NM_000228.3(LAMB3):c.3026G>A (p.Arg1009Gln)	LAMB3 (R1009Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263909	NM_000228.3(LAMB3):c.3026G>T (p.Arg1009Leu)	LAMB3 (R1009L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876950	NM_000228.3(LAMB3):c.3025C>T (p.Arg1009Trp)	LAMB3 (R1009W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 2206873	NM_000228.3(LAMB3):c.3017G>A (p.Arg1006His)	LAMB3 (R1006H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295072	NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys)	LAMB3 (R1006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2383304	NM_000228.3(LAMB3):c.2878C>T (p.Arg960Cys)	LAMB3 (R960C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491794	NM_000228.3(LAMB3):c.2863G>T (p.Asp955Tyr)	LAMB3 (D955Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206380	NM_000228.3(LAMB3):c.2802G>T (p.Glu934Asp)	LAMB3 (E934D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349916	NM_000228.3(LAMB3):c.2795T>C (p.Met932Thr)	LAMB3 (M932T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348263	NM_000228.3(LAMB3):c.2687G>A (p.Arg896Gln)	LAMB3 (R896Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551673	NM_000228.3(LAMB3):c.2665C>G (p.Arg889Gly)	LAMB3 (R889G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875090	NM_000228.3(LAMB3):c.2665C>T (p.Arg889Trp)	LAMB3 (R889W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2548256	NM_000228.3(LAMB3):c.2639A>T (p.Gln880Leu)	LAMB3 (Q880L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396034	NM_000228.3(LAMB3):c.2605C>T (p.Arg869Cys)	LAMB3 (R869C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273290	NM_000228.3(LAMB3):c.2599G>A (p.Ala867Thr)	LAMB3 (A867T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245126	NM_000228.3(LAMB3):c.2529T>G (p.Asn843Lys)	LAMB3 (N843K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406427	NM_000228.3(LAMB3):c.2519G>A (p.Arg840Gln)	LAMB3 (R840Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 290569	NM_000228.3(LAMB3):c.2320A>T (p.Met774Leu)	LAMB3 (M774L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2561473	NM_000228.3(LAMB3):c.2236C>T (p.Arg746Trp)	LAMB3 (R746W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360676	NM_000228.3(LAMB3):c.2176G>T (p.Ala726Ser)	LAMB3 (A726S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557407	NM_000228.3(LAMB3):c.2081C>G (p.Thr694Ser)	LAMB3 (T694S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744738	NM_000228.3(LAMB3):c.1924G>A (p.Ala642Thr)	LAMB3 (A642T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295097	NM_000228.3(LAMB3):c.1868G>A (p.Arg623Gln)	LAMB3 (R623Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2523632	NM_000228.3(LAMB3):c.1837C>T (p.Pro613Ser)	LAMB3 (P613S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326697	NM_000228.3(LAMB3):c.1826T>A (p.Leu609Gln)	LAMB3 (L609Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295098	NM_000228.3(LAMB3):c.1807C>T (p.Arg603Cys)	LAMB3 (R603C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 2398222	NM_000228.3(LAMB3):c.1727C>G (p.Pro576Arg)	LAMB3 (P576R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698574	NM_000228.3(LAMB3):c.1721G>A (p.Arg574His)	LAMB3 (R574H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2285571	NM_000228.3(LAMB3):c.1718A>G (p.Asn573Ser)	LAMB3 (N573S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723816	NM_000228.3(LAMB3):c.1677G>T (p.Leu559Phe)	LAMB3 (L559F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 295101	NM_000228.3(LAMB3):c.1667G>A (p.Arg556His)	LAMB3 (R556H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2218083	NM_000228.3(LAMB3):c.1654C>T (p.Arg552Cys)	LAMB3 (R552C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763952	NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln)	LAMB3 (R539Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295106	NM_000228.3(LAMB3):c.1546A>G (p.Ile516Val)	LAMB3 (I516V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GUncertain significance
Select item 2257899	NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)	LAMB3 (G475S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +1 more	GUncertain significance
Select item 2389505	NM_000228.3(LAMB3):c.1349G>A (p.Arg450His)	LAMB3 (R450H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206350	NM_000228.3(LAMB3):c.1325T>C (p.Met442Thr)	LAMB3 (M442T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237632	NM_000228.3(LAMB3):c.1244C>T (p.Pro415Leu)	LAMB3 (P415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334021	NM_000228.3(LAMB3):c.1168G>T (p.Ala390Ser)	LAMB3 (A390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 73532	NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn)	LAMB3 (D384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267517	NM_000228.3(LAMB3):c.1103C>T (p.Pro368Leu)	LAMB3 (P368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310847	NM_000228.3(LAMB3):c.1091G>A (p.Arg364Gln)	LAMB3 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244459	NM_000228.3(LAMB3):c.1066G>A (p.Glu356Lys)	LAMB3 (E356K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367431	NM_000228.3(LAMB3):c.1040G>A (p.Arg347Gln)	LAMB3 (R347Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248164	NM_000228.3(LAMB3):c.983A>G (p.Asp328Gly)	LAMB3 (D328G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536579	NM_000228.3(LAMB3):c.920G>A (p.Gly307Asp)	LAMB3 (G307D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2198093	NM_000228.3(LAMB3):c.898C>T (p.Arg300Trp)	LAMB3 (R300W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 295130	NM_000228.3(LAMB3):c.773G>A (p.Arg258His)	LAMB3 (R258H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 2479355	NM_000228.3(LAMB3):c.758A>G (p.His253Arg)	LAMB3 (H253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295132	NM_000228.3(LAMB3):c.671T>C (p.Leu224Pro)	LAMB3 (L224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 295133	NM_000228.3(LAMB3):c.582G>T (p.Met194Ile)	LAMB3 (M194I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 295137	NM_000228.3(LAMB3):c.557G>A (p.Gly186Glu)	LAMB3 (G186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259396	NM_000228.3(LAMB3):c.482G>A (p.Arg161His)	LAMB3 (R161H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874325	NM_000228.3(LAMB3):c.475C>T (p.Arg159Trp)	LAMB3 (R159W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2372979	NM_000228.3(LAMB3):c.409T>A (p.Ser137Thr)	LAMB3 (S137T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259421	NM_000228.3(LAMB3):c.218A>C (p.Gln73Pro)	LAMB3 (Q73P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348870	NM_000228.3(LAMB3):c.170C>T (p.Thr57Ile)	LAMB3 (T57I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140379	NM_000228.3(LAMB3):c.116G>A (p.Arg39Gln)	LAMB3 (R39Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2236178	NM_000228.3(LAMB3):c.74C>T (p.Ala25Val)	LAMB3 (A25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387849	NM_000228.3(LAMB3):c.55C>A (p.Gln19Lys)	LAMB3 (Q19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538110	NM_000228.3(LAMB3):c.38G>A (p.Gly13Asp)	LAMB3 (G13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 76