"Counsyl"[submitter] AND "LAMB3"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 295064	NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile)	LAMB3 (T1110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 370778	NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)	LAMB3 (W1040*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551418	NM_000228.3(LAMB3):c.3052-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370774	NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)	LAMB3 (Q1012*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370321	NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)	LAMB3 (R1009fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 295073	NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser)	LAMB3 (G1003S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 556000	NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)	LAMB3 (D982G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553110	NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del)	LAMB3	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 372403	NM_000228.3(LAMB3):c.2842del (p.Val948fs)	LAMB3 (V948fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 553136	NM_000228.3(LAMB3):c.2701+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 556303	NM_000228.3(LAMB3):c.2556+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553294	NM_000228.3(LAMB3):c.2516del (p.Leu839fs)	LAMB3 (L839fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551346	NM_000228.3(LAMB3):c.2396dup (p.Ser800fs)	LAMB3 (S800fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 549907	NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)	LAMB3 (C788fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370879	NM_000228.3(LAMB3):c.2358+2T>C	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370435	NM_000228.3(LAMB3):c.2346del (p.Thr783fs)	LAMB3 (T783fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280743	NM_000228.3(LAMB3):c.2288del (p.Gly763fs)	LAMB3 (G763fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552832	NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup)	LAMB3	Microsatellite (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 550996	NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup)	LAMB3	Microsatellite (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 550865	NM_000228.3(LAMB3):c.2182del (p.Ala728fs)	LAMB3 (A728fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371355	NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter)	LAMB3 (Q724*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553408	NM_000228.2(LAMB3):c.2138_2140delGAG	LAMB3	Deletion	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552357	NM_000228.3(LAMB3):c.2137+37G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 558689	NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer)	LAMB3	Deletion (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552193	NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)	LAMB3 (P679L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550099	NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del)	LAMB3 (L676del)	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 370862	NM_000228.3(LAMB3):c.2011del (p.Leu671fs)	LAMB3 (L671fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 189034	NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)	LAMB3 (R660*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 14545	NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)	LAMB3 (W610*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 370083	NM_000228.3(LAMB3):c.1823dup (p.Ser608fs)	LAMB3 (S608fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188764	NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3 (R569*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 556337	NM_000228.3(LAMB3):c.1597+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 14548	NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)	LAMB3 (G530fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 558343	NM_000228.3(LAMB3):c.1486-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa +2 more	GLikely pathogenic
Select item 554635	NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup)	LAMB3	Duplication (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 189004	NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	LAMB3 (N456fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 557906	NM_000228.3(LAMB3):c.1283_1288+14del	LAMB3	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554569	NM_000228.3(LAMB3):c.1288+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 73532	NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn)	LAMB3 (D384N)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 371216	NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	LAMB3 (Q373*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic/Likely pathogenic
Select item 295115	NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp)	LAMB3 (R364W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 558478	NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer)	LAMB3	Microsatellite (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371462	NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)	LAMB3 (D344fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370208	NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter)	LAMB3 (C343*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371595	NM_000228.3(LAMB3):c.1007del (p.Gln336fs)	LAMB3 (Q336fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 295120	NM_000228.3(LAMB3):c.978del (p.Phe327fs)	LAMB3 (F327fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 551490	NM_000228.3(LAMB3):c.977del (p.His326fs)	LAMB3 (H326fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551313	NM_000228.3(LAMB3):c.943+2T>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370121	NM_000228.3(LAMB3):c.920del (p.Gly307fs)	LAMB3 (G307fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370844	NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter)	LAMB3 (C290*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554258	NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser)	LAMB3 (C290S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553742	NM_000228.3(LAMB3):c.823-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 553473	NM_000228.3(LAMB3):c.822+2dup	LAMB3	Duplication (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 14549	NM_000228.3(LAMB3):c.628+42G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 370503	NM_000228.3(LAMB3):c.628+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 14550	NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)	LAMB3 (G199A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 370693	NM_000228.3(LAMB3):c.565-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370641	NM_000228.3(LAMB3):c.565-2A>C	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371026	NM_000228.3(LAMB3):c.561del (p.Lys188fs)	LAMB3 (K188fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370322	NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter)	LAMB3 (Q169*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370111	NM_000228.3(LAMB3):c.499_500del (p.Ser167fs)	LAMB3 (S167fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188937	NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	LAMB3 (S155fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 488703	NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)	LAMB3 (R144*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +1 more	GPathogenic
Select item 371422	NM_000228.3(LAMB3):c.373-2A>G	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370673	NM_000228.3(LAMB3):c.372+2T>G	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553322	NM_000228.3(LAMB3):c.372+1G>C	LAMB3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 550189	NM_000228.3(LAMB3):c.308del (p.Pro103fs)	LAMB3 (P103fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 371487	NM_000228.3(LAMB3):c.298+2T>C	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 295145	NM_000228.3(LAMB3):c.225_226del (p.His75fs)	LAMB3 (H75fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555352	NM_000228.3(LAMB3):c.183+2T>C	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370941	NM_000228.3(LAMB3):c.69_70del (p.Ala25fs)	LAMB3 (A25fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 188740	NM_000228.3(LAMB3):c.29-2A>G	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic

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Items: 76