"Counsyl"[submitter] AND "LAMA3"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551414	NM_198129.4(LAMA3):c.18del (p.Pro7fs)	LAMA3 (P7fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 554427	NM_198129.4(LAMA3):c.394del (p.Leu132fs)	LAMA3 (L132fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549966	NM_198129.4(LAMA3):c.566-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553765	NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter)	LAMA3 (L195*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553414	NM_198129.4(LAMA3):c.734del (p.Phe245fs)	LAMA3 (F245fs)	Deletion (frameshift variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 553175	NM_198129.4(LAMA3):c.856-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 554383	NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)	LAMA3 (E306*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557786	NM_198129.4(LAMA3):c.938del (p.Pro313fs)	LAMA3 (P313fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553415	NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter)	LAMA3 (E352*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551564	NM_198129.4(LAMA3):c.1064-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557988	NM_198129.4(LAMA3):c.1064-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 553009	NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter)	LAMA3 (R519*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553416	NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter)	LAMA3 (W537*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 555318	NM_198129.4(LAMA3):c.1741+2T>C	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551828	NM_198129.4(LAMA3):c.1742-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549876	NM_198129.4(LAMA3):c.1941+1del	LAMA3	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 556152	NM_198129.4(LAMA3):c.1942-2A>C	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557036	NM_198129.4(LAMA3):c.2147+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 556564	NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs)	LAMA3 (D735fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 550798	NM_198129.4(LAMA3):c.2305-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549867	NM_198129.4(LAMA3):c.2428+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553593	NM_198129.4(LAMA3):c.2571+2dup	LAMA3	Duplication (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 556710	NM_198129.4(LAMA3):c.2572-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557238	NM_198129.4(LAMA3):c.2823+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557098	NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter)	LAMA3 (Y956*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551786	NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter)	LAMA3 (Y962*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 555147	NM_198129.4(LAMA3):c.3093+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552950	NM_198129.4(LAMA3):c.3093+1G>C	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549875	NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs)	LAMA3 (V1047fs)	Microsatellite (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552587	NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter)	LAMA3 (R1059*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549869	NM_198129.4(LAMA3):c.3336+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553661	NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter)	LAMA3 (R1126*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551493	NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter)	LAMA3 (Y1127*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553453	NM_198129.4(LAMA3):c.3463+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551577	NM_198129.4(LAMA3):c.3719+3_3719+6del	LAMA3	Microsatellite (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 558602	NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter)	LAMA3 (C1312*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551474	NM_198129.4(LAMA3):c.3972del (p.Gln1325fs)	LAMA3 (Q1325fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 554331	NM_198129.4(LAMA3):c.4128del (p.Gln1377fs)	LAMA3 (Q1377fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553510	NM_198129.4(LAMA3):c.4174del (p.Cys1392fs)	LAMA3 (C1392fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549914	NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter)	LAMA3 (E1401*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 555970	NM_198129.4(LAMA3):c.4422+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549883	NM_198129.4(LAMA3):c.4501del (p.Ser1501fs)	LAMA3 (S1501fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549985	NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)	LAMA3 (Q1507*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549888	NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs)	LAMA3 (I1513fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551372	NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)	LAMA3 (R1584*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GConflicting classifications of pathogenicity
Select item 556713	NM_198129.4(LAMA3):c.4768-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 549886	NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del)	LAMA3 (E1605del)	Microsatellite (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552622	NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter)	LAMA3 (Q1619*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 555923	NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs)	LAMA3 (E1637fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552745	NM_198129.4(LAMA3):c.4974del (p.Ala1659fs)	LAMA3 (A1659fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 558470	NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter)	LAMA3 (Q1666*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 557106	NM_000227.6(LAMA3):c.1A>T (p.Met1Leu)	LAMA3, LOC126862707 (M1L)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552389	NM_000227.6(LAMA3):c.2T>C (p.Met1Thr)	LAMA3, LOC126862707 (M1T)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555642	NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter)	LAMA3, LOC126862707 (W14*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370468	NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter)	LAMA3, LOC126862707 (Q31*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550430	NM_000227.6(LAMA3):c.108del (p.Leu38fs)	LAMA3, LOC126862707 (L38fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 370752	NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)	LAMA3 (C1684fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 554660	NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup)	LAMA3	Insertion (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552993	NM_198129.4(LAMA3):c.5112+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 2A, intermediate +2 more	GLikely pathogenic
Select item 371119	NM_198129.4(LAMA3):c.5112+1G>T	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 550193	NM_198129.4(LAMA3):c.5112+2T>G	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370423	NM_198129.4(LAMA3):c.5113-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 371389	NM_198129.4(LAMA3):c.5152del (p.Cys1718fs)	LAMA3 (C109fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550890	NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)	LAMA3 (A124fs +1 more)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371559	NM_198129.4(LAMA3):c.5205del (p.Cys1736fs)	LAMA3 (C127fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550199	NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly)	LAMA3 (S132G +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552205	NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA	LAMA3	Indel (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 553451	NM_198129.4(LAMA3):c.5461+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 551582	NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup)	LAMA3	Insertion (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 558647	NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs)	LAMA3 (T256fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371489	NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter)	LAMA3 (D288* +1 more)	Duplication (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552923	NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter)	LAMA3 (Q1928* +1 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370555	NM_198129.4(LAMA3):c.5836+2T>C	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370688	NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer)	LAMA3	Deletion (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 549906	NM_198129.4(LAMA3):c.6041del (p.Gln2014fs)	LAMA3 (Q1958fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 555742	NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)	LAMA3	Microsatellite (nonsense)	Junctional epidermolysis bullosa +2 more	GPathogenic
Select item 551643	NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter)	LAMA3 (S480* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370162	NM_198129.4(LAMA3):c.6318+2T>C	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 556481	NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs)	LAMA3 (V2126fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558412	NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter)	LAMA3 (E2158* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370424	NM_198129.4(LAMA3):c.6505del (p.Val2169fs)	LAMA3 (V504fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551623	NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del)	LAMA3 (A569del +3 more)	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 556752	NM_198129.4(LAMA3):c.6567del (p.Glu2190fs)	LAMA3 (E2134fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 326311	NM_198129.4(LAMA3):c.6616-13G>T	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 371342	NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs)	LAMA3 (K571fs +3 more)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553076	NM_198129.4(LAMA3):c.6719-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555094	NM_198129.4(LAMA3):c.6836-36_6836-16del	LAMA3	Deletion (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 551972	NM_198129.4(LAMA3):c.6836-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554636	NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter)	LAMA3 (K743* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 551628	NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter)	LAMA3 (Q750* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 370161	NM_198129.4(LAMA3):c.7158+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	not provided +4 more	GLikely pathogenic
Select item 556395	NM_198129.4(LAMA3):c.7165del (p.Val2389fs)	LAMA3 (V2389fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558002	NM_198129.4(LAMA3):c.7219del (p.Leu2407fs)	LAMA3 (L2351fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555967	NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs)	LAMA3 (Y2448fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 557357	NM_198129.4(LAMA3):c.7352del (p.Met2451fs)	LAMA3 (M2395fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 427194	NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu)	LAMA3 (M2487L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553194	NM_198129.4(LAMA3):c.7461_7481+17del	LAMA3	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 557141	NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter)	LAMA3 (Q2497* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370583	NM_198129.4(LAMA3):c.7677del (p.Gly2560fs)	LAMA3 (G2504fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554763	NM_198129.4(LAMA3):c.7820del (p.Gly2607fs)	LAMA3 (G2607fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic

<< First< Prev

Page of 2