"GeneDx"[submitter] AND "LAMB3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 180675	NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	LAMB3 (G1149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 3372018	NM_000228.3(LAMB3):c.3443C>A (p.Thr1148Lys)	LAMB3 (T1148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255595	NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +5 more	GBenign
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 1312007	NM_000228.3(LAMB3):c.3281_3284delinsC (p.Gln1094_Ser1095delinsPro)	LAMB3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3371375	NM_000228.3(LAMB3):c.3266A>G (p.Lys1089Arg)	LAMB3 (K1089R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449050	NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	LAMB3 (R972*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +4 more	GPathogenic
Select item 1278813	NM_000228.3(LAMB3):c.2910-115C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286389	NM_000228.3(LAMB3):c.2910-169G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280325	NM_000228.3(LAMB3):c.2909+194C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276454	NM_000228.3(LAMB3):c.2909+182C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1291217	NM_000228.3(LAMB3):c.2777C>G (p.Ala926Gly)	LAMB3 (A926G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 255591	NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)	LAMB3 (A926D)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 295080	NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)	LAMB3 (T908I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 255590	NM_000228.3(LAMB3):c.2702-12dup	LAMB3	Duplication (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +4 more	GBenign
Select item 295081	NM_000228.3(LAMB3):c.2702-14G>A	LAMB3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255589	NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1180485	NM_000228.3(LAMB3):c.2556+60C>T	LAMB3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 295086	NM_000228.3(LAMB3):c.2556+13G>A	LAMB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255588	NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)	LAMB3 (M852L)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +5 more	GBenign
Select item 295087	NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp)	LAMB3 (R848W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 816952	NM_000228.3(LAMB3):c.2533C>T (p.Gln845Ter)	LAMB3 (Q845*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 620454	NM_000228.3(LAMB3):c.2275G>T (p.Gly759Ter)	LAMB3 (G759*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1675237	NM_000228.3(LAMB3):c.2138-24C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295095	NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GBenign
Select item 295096	NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)	LAMB3 (N690S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GBenign
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 3372019	NM_000228.3(LAMB3):c.1989G>C (p.Gln663His)	LAMB3 (Q663H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1234605	NM_000228.3(LAMB3):c.1976+222C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180455	NM_000228.3(LAMB3):c.1976+169T>C	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 14539	NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	LAMB3 (R635*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 295099	NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GBenign
Select item 255587	NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +5 more	GBenign
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 763596	NM_000228.3(LAMB3):c.1549C>T (p.Arg517Cys)	LAMB3 (R517C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 2499257	NM_000228.3(LAMB3):c.1522G>A (p.Gly508Ser)	LAMB3 (G508S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255585	NM_000228.3(LAMB3):c.1486-18G>A	LAMB3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
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 295110	NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr)	LAMB3 (S438T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1180468	NM_000228.3(LAMB3):c.1289-52G>A	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A +3 more	GBenign
Select item 1282150	NM_000228.3(LAMB3):c.1289-150C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180469	NM_000228.3(LAMB3):c.1289-186G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1291215	NM_000228.3(LAMB3):c.1288+29G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 282914	NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)	LAMB3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 255582	NM_000228.3(LAMB3):c.1149G>A (p.Pro383=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1237103	NM_000228.3(LAMB3):c.1133-34T>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236358	NM_000228.3(LAMB3):c.1133-172A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279296	NM_000228.3(LAMB3):c.1132+124G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265229	NM_000228.3(LAMB3):c.1132+5G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic/Likely pathogenic
Select item 427159	NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser)	LAMB3 (C376S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1443250	NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)	LAMB3 (C355R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 279829	NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)	LAMB3 (N345fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 372402	NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	LAMB3 (Y339*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 1288042	NM_000228.3(LAMB3):c.943+52C>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291214	NM_000228.3(LAMB3):c.943+18C>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803490	NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)	LAMB3 (C293S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255598	NM_000228.3(LAMB3):c.823-15C>T	LAMB3	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1277408	NM_000228.3(LAMB3):c.822+296A>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255597	NM_000228.3(LAMB3):c.822+33G>C	LAMB3	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 35480	NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)	LAMB3 (Q243*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 14543	NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	LAMB3 (E210K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 1074201	NM_000228.3(LAMB3):c.565-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 188846	NM_000228.3(LAMB3):c.565-2A>G	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 1252810	NM_000228.3(LAMB3):c.564+286C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260284	NM_000228.3(LAMB3):c.564+250C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295136	NM_000228.3(LAMB3):c.564+10G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GBenign
Select item 295139	NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp)	LAMB3 (N181D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 255596	NM_000228.3(LAMB3):c.384C>T (p.Pro128=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GBenign
Select item 295142	NM_000228.3(LAMB3):c.372+10C>T	LAMB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255593	NM_000228.3(LAMB3):c.298+50T>A	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A +4 more	GBenign
Select item 3253096	NM_000228.3(LAMB3):c.298+3_298+8del	LAMB3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 255592	NM_000228.3(LAMB3):c.291A>C (p.Ser97=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +5 more	GBenign
Select item 620137	NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)	LAMB3 (W95*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 419475	NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)	LAMB3 (R81*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +1 more	GPathogenic
Select item 1180480	NM_000228.3(LAMB3):c.184-70A>G	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1229586	NM_000228.3(LAMB3):c.184-286A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234777	NM_000228.3(LAMB3):c.184-335del	LAMB3	Deletion (intron variant)	not provided	GBenign
Select item 1231514	NM_000228.3(LAMB3):c.184-335C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 255584	NM_000228.3(LAMB3):c.138C>T (p.Thr46=)	LAMB3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 14541	NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	LAMB3 (R42*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic
Select item 633285	NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	LAMB3 (L11fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 1286607	NM_000228.3(LAMB3):c.28+326C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276329	NM_000228.3(LAMB3):c.28+292G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229231	NM_000228.3(LAMB3):c.28+163C>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257334	NM_000228.3(LAMB3):c.28+88G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249913	NM_000228.3(LAMB3):c.-37-26A>T	LAMB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252656	NM_000228.3(LAMB3):c.-37-381T>A	LAMB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

<< First< Prev

Page of 2