ClinVar for MedGen (Select 859840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3578414	NM_000228.3(LAMB3):c.28+2dup	LAMB3	Duplication (splice donor variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578407	NM_000228.3(LAMB3):c.73del (p.Ala25fs)	LAMB3 (A25fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578402	NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)	LAMB3 (Y27*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578377	NM_000228.3(LAMB3):c.314del (p.Ser105fs)	LAMB3 (S105fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578368	NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)	LAMB3 (Q178*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578363	NM_000228.3(LAMB3):c.568C>T (p.Gln190Ter)	LAMB3 (Q190*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578344	NM_000228.3(LAMB3):c.1192C>T (p.Gln398Ter)	LAMB3 (Q398*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578340	NM_000228.3(LAMB3):c.1201_1202del (p.Cys401fs)	LAMB3 (C401fs)	Microsatellite (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578324	NM_000228.3(LAMB3):c.1410del (p.His469_Trp470insTer)	LAMB3	Deletion (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578321	NM_000228.3(LAMB3):c.1472del (p.Pro491fs)	LAMB3 (P491fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578314	NM_000228.3(LAMB3):c.1485+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578275	NM_000228.3(LAMB3):c.2911_2938del	LAMB3	Deletion	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578270	NM_000228.3(LAMB3):c.3004C>T (p.Gln1002Ter)	LAMB3 (Q1002*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 3578264	NM_000228.3(LAMB3):c.3061_3063delinsAAAAGCTG (p.Val1021fs)	LAMB3 (V1021fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 2910131	NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)	LAMB3 (A1055fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 2810532	NM_000228.3(LAMB3):c.2701+2T>C	LAMB3	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 2734071	NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)	LAMB3 (A1064*)	Indel (nonsense)	Amelogenesis imperfecta type 1A +3 more	GPathogenic
Select item 2696593	NM_000228.3(LAMB3):c.1357del (p.Cys453fs)	LAMB3 (C453fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2572041	NM_000494.4(COL17A1):c.2947+2T>C	COL17A1	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2572040	NM_000494.4(COL17A1):c.2912del (p.Pro971fs)	COL17A1 (P971fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2572039	NM_000494.4(COL17A1):c.2435-1G>A	COL17A1	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2572038	NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)	COL17A1 (G677D)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2572037	NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)	COL17A1 (G621S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2572036	NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)	COL17A1 (N181fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2572035	NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)	COL17A1 (S1383fs)	Microsatellite (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2572034	NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)	COL17A1 (S1202L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GUncertain significance
Select item 2572033	NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)	COL17A1 (E1199Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2572032	NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)	COL17A1 (G1155fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2572031	NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)	COL17A1 (P1154fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2572030	NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)	COL17A1 (R1133C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GUncertain significance
Select item 2572029	NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)	COL17A1 (Y1099*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A	GPathogenic
Select item 2499991	NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)	LAMB3 (G1102fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2445230	NM_000228.3(LAMB3):c.2926del (p.Val976fs)	LAMB3 (V976fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2445229	NM_000228.3(LAMB3):c.944-14C>G	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A	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 2420300	NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)	LAMB3	Deletion (nonsense)	not provided +3 more	GPathogenic
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 2211005	NM_000494.4(COL17A1):c.340del (p.Ser114fs)	COL17A1 (S114fs)	Deletion (frameshift variant)	Epithelial recurrent erosion dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2106326	NM_000228.3(LAMB3):c.2495del (p.Ala832fs)	LAMB3 (A832fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2095236	NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)	LAMB3 (E748*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1709533	NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)	COL17A1 (G671S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683769	NM_000228.3(LAMB3):c.628+2T>A	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +2 more	GLikely pathogenic
Select item 1361158	NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs)	LAMB3 (Y146fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1180485	NM_000228.3(LAMB3):c.2556+60C>T	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
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 1180469	NM_000228.3(LAMB3):c.1289-186G>A	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A +3 more	GBenign
Select item 1180468	NM_000228.3(LAMB3):c.1289-52G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	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 1074943	NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer)	LAMB3	Deletion (nonsense)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 1066049	NM_000228.3(LAMB3):c.28+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +3 more	GLikely pathogenic
Select item 1050101	NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)	LAMB3 (R878C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 1034117	NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)	LAMB3 (R988Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
Select item 1030687	NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser)	LAMB3 (V219S)	Indel (missense variant)	Amelogenesis imperfecta type 1A	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 931124	NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)	COL17A1 (R154*)	Single nucleotide variant (nonsense)	Epithelial recurrent erosion dystrophy	GPathogenic
Select item 876214	NM_000228.3(LAMB3):c.-72C>A	LAMB3, LOC126805999	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
Select item 839926	NM_000228.3(LAMB3):c.3228+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +4 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 620137	NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)	LAMB3 (W95*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 594239	NM_000494.4(COL17A1):c.3277+1G>A	COL17A1	Single nucleotide variant (splice donor variant)	not provided	GLikely 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 +3 more	GLikely pathogenic
Select item 551490	NM_000228.3(LAMB3):c.977del (p.His326fs)	LAMB3 (H326fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GUncertain significance
Select item 449050	NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	LAMB3 (R972*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +4 more	GPathogenic
Select item 419475	NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)	LAMB3 (R81*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A +4 more	GPathogenic
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 393553	NM_000228.3(LAMB3):c.3383-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1A +2 more	GLikely pathogenic
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 372402	NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	LAMB3 (Y339*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic
Select item 370673	NM_000228.3(LAMB3):c.372+2T>G	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +2 more	GLikely pathogenic
Select item 295145	NM_000228.3(LAMB3):c.225_226del (p.His75fs)	LAMB3 (H75fs)	Microsatellite (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 295136	NM_000228.3(LAMB3):c.564+10G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +4 more	GBenign
Select item 295099	NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +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, non-Herlitz type +4 more	GBenign
Select item 295095	NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 295092	NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met)	LAMB3 (I799M)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	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 279829	NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)	LAMB3 (N345fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic
Select item 265229	NM_000228.3(LAMB3):c.1132+5G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa +4 more	GPathogenic/Likely pathogenic
Select item 255598	NM_000228.3(LAMB3):c.823-15C>T	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GBenign
Select item 255597	NM_000228.3(LAMB3):c.822+33G>C	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +4 more	GBenign
Select item 255596	NM_000228.3(LAMB3):c.384C>T (p.Pro128=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 255595	NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GBenign
Select item 255593	NM_000228.3(LAMB3):c.298+50T>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GBenign
Select item 255592	NM_000228.3(LAMB3):c.291A>C (p.Ser97=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	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 255589	NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 255588	NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)	LAMB3 (M852L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 255587	NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GBenign
Select item 255586	NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)	LAMB3 (V527M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 255585	NM_000228.3(LAMB3):c.1486-18G>A	LAMB3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255584	NM_000228.3(LAMB3):c.138C>T (p.Thr46=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa +5 more	GBenign
Select item 189034	NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)	LAMB3 (R660*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 189004	NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	LAMB3 (N456fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 188937	NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	LAMB3 (S155fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic/Likely pathogenic
Select item 188764	NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3 (R569*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 180677	NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)	LAMB3 (E1132fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A	GPathogenic
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 180675	NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	LAMB3 (G1149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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