LAMB3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 368859	NM_000228.2(LAMB3):c.*403A>G	LAMB3	Single nucleotide variant	Junctional epidermolysis bullosa	GBenign
Select item 368860	NM_000228.2(LAMB3):c.*402C>T	LAMB3	Single nucleotide variant	Junctional epidermolysis bullosa	GLikely benign
Select item 295056	NM_000228.3(LAMB3):c.*392C>T	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 874109	NM_000228.3(LAMB3):c.*279G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 295058	NM_000228.3(LAMB3):c.*275C>T	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 874110	NM_000228.3(LAMB3):c.*262G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GLikely benign
Select item 874111	NM_000228.3(LAMB3):c.*224G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 874112	NM_000228.3(LAMB3):c.*137T>C	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GLikely benign
Select item 874113	NM_000228.3(LAMB3):c.*132G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 874114	NM_000228.3(LAMB3):c.*124C>T	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 295059	NM_000228.3(LAMB3):c.*102C>T	LAMB3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 875046	NM_000228.3(LAMB3):c.*70G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GLikely benign
Select item 974970	NM_000228.3(LAMB3):c.*19G>A	LAMB3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 370323	NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)	LAMB3	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2823185	NM_000228.3(LAMB3):c.3507C>T (p.Ala1169=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795010	NM_000228.3(LAMB3):c.3501C>T (p.Tyr1167=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933165	NM_000228.3(LAMB3):c.3492C>T (p.Arg1164=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2444517	NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)	LAMB3 (R1164C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GUncertain significance
Select item 2747902	NM_000228.3(LAMB3):c.3483C>T (p.Ile1161=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295060	NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg)	LAMB3 (H1160R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578329	NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)	LAMB3 (E1155fs)	Deletion (frameshift variant)	Amelogenesis imperfecta	GPathogenic
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 2715805	NM_000228.3(LAMB3):c.3456G>A (p.Lys1152=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135573	NM_000228.3(LAMB3):c.3453G>A (p.Glu1151=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180675	NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	LAMB3 (G1149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1116916	NM_000228.3(LAMB3):c.3450G>A (p.Leu1150=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295061	NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 761846	NM_000228.3(LAMB3):c.3444A>G (p.Thr1148=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724574	NM_000228.3(LAMB3):c.3435G>A (p.Ala1145=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591326	NM_000228.3(LAMB3):c.3432_3434delinsGGT (p.Ala1145Val)	LAMB3 (A1145V)	Indel (missense variant)	not provided	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 255595	NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)	LAMB3	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta type 1A +5 more	GBenign
Select item 180676	NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)	LAMB3 (S1144*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 1111399	NM_000228.3(LAMB3):c.3429C>T (p.Arg1143=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141288	NM_000228.3(LAMB3):c.3428G>A (p.Arg1143His)	LAMB3 (R1143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607702	NM_000228.3(LAMB3):c.3426G>A (p.Leu1142=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965492	NM_000228.3(LAMB3):c.3417C>G (p.Ala1139=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 875047	NM_000228.3(LAMB3):c.3416C>T (p.Ala1139Val)	LAMB3 (A1139V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 1119843	NM_000228.3(LAMB3):c.3414G>A (p.Gln1138=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078823	NM_000228.3(LAMB3):c.3411C>T (p.Ser1137=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1100505	NM_000228.3(LAMB3):c.3408C>T (p.Gly1136=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295062	NM_000228.3(LAMB3):c.3404G>A (p.Arg1135Gln)	LAMB3 (R1135Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2059203	NM_000228.3(LAMB3):c.3403C>T (p.Arg1135Trp)	LAMB3 (R1135W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530889	NM_000228.3(LAMB3):c.3399G>T (p.Leu1133=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180677	NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)	LAMB3 (E1132fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2895578	NM_000228.3(LAMB3):c.3393G>A (p.Leu1131=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 393553	NM_000228.3(LAMB3):c.3383-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2749925	NM_000228.3(LAMB3):c.3383-15T>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892867	NM_000228.3(LAMB3):c.3383-16G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262669	NM_000228.3(LAMB3):c.3383-58G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258580	NM_000228.3(LAMB3):c.3383-334C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2918414	NM_000228.3(LAMB3):c.3382+20G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295063	NM_000228.3(LAMB3):c.3382+8A>G	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 1030686	NM_000228.3(LAMB3):c.3382+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 750909	NM_000228.3(LAMB3):c.3368T>A (p.Met1123Lys)	LAMB3 (M1123K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 2027879	NM_000228.3(LAMB3):c.3357C>T (p.Thr1119=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043983	NM_000228.3(LAMB3):c.3354G>A (p.Glu1118=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840439	NM_000228.3(LAMB3):c.3351G>A (p.Gly1117=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696607	NM_000228.3(LAMB3):c.3351G>T (p.Gly1117=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639979	NM_000228.3(LAMB3):c.3345G>A (p.Leu1115=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576638	NM_000228.3(LAMB3):c.3343C>T (p.Leu1115=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855326	NM_000228.3(LAMB3):c.3342G>A (p.Glu1114=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 393554	NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)	LAMB3 (E1114*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 1589733	NM_000228.3(LAMB3):c.3339G>A (p.Glu1113=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1902778	NM_000228.3(LAMB3):c.3333G>A (p.Glu1111=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295064	NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile)	LAMB3 (T1110I)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	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 3005789	NM_000228.3(LAMB3):c.3321T>C (p.Ser1107=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295065	NM_000228.3(LAMB3):c.3318G>C (p.Gln1106His)	LAMB3 (Q1106H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 1662233	NM_000228.3(LAMB3):c.3309C>A (p.Ala1103=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015594	NM_000228.3(LAMB3):c.3306T>A (p.Gly1102=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499991	NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)	LAMB3 (G1102fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 1603524	NM_000228.3(LAMB3):c.3294G>A (p.Leu1098=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1312007	NM_000228.3(LAMB3):c.3281_3284delinsC (p.Gln1094_Ser1095delinsPro)	LAMB3	Indel (inframe_indel)	not provided	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 1100775	NM_000228.3(LAMB3):c.3279T>C (p.Gly1093=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958150	NM_000228.3(LAMB3):c.3273G>T (p.Arg1091=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641855	NM_000228.3(LAMB3):c.3273G>A (p.Arg1091=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 761876	NM_000228.3(LAMB3):c.3252G>A (p.Lys1084=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 553234	NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs)	LAMB3 (K1084fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1301693	NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)	LAMB3 (Q1083*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1364854	NM_000228.3(LAMB3):c.3239_3240del (p.Arg1080fs)	LAMB3 (R1080fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1095863	NM_000228.3(LAMB3):c.3240A>G (p.Arg1080=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1106658	NM_000228.3(LAMB3):c.3237G>A (p.Glu1079=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976138	NM_000228.3(LAMB3):c.3231A>T (p.Gly1077=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592016	NM_000228.3(LAMB3):c.3229-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2967919	NM_000228.3(LAMB3):c.3229-4T>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640860	NM_000228.3(LAMB3):c.3229-9C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962462	NM_000228.3(LAMB3):c.3229-16A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793969	NM_000228.3(LAMB3):c.3229-19A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975127	NM_000228.3(LAMB3):c.3228+18T>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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