"Illumina Laboratory Services, Illumina"[submitter] AND "LAMA3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 890251	NM_198129.4(LAMA3):c.4998+1367G>A	LAMA3, LOC126862707	Single nucleotide variant (5 prime UTR variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GLikely benign
Select item 890252	NM_000227.6(LAMA3):c.19C>T (p.Arg7Trp)	LAMA3, LOC126862707 (R7W)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326291	NM_000227.6(LAMA3):c.30C>T (p.Cys10=)	LOC126862707, LAMA3	Single nucleotide variant (synonymous variant +1 more)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 890253	NM_000227.6(LAMA3):c.71A>G (p.Gln24Arg)	LAMA3, LOC126862707 (Q24R)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326292	NM_000227.6(LAMA3):c.110T>G (p.Phe37Cys)	LAMA3, LOC126862707 (F37C)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign
Select item 326293	NM_000227.6(LAMA3):c.128A>C (p.Gln43Pro)	LAMA3, LOC126862707 (Q43P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 326294	NM_198129.4(LAMA3):c.5131G>A (p.Ala1711Thr)	LAMA3 (A102T +1 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326295	NM_198129.4(LAMA3):c.5169T>C (p.Tyr1723=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326296	NM_198129.4(LAMA3):c.5223-13G>C	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 326297	NM_198129.4(LAMA3):c.5304-4G>A	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 255581	NM_198129.4(LAMA3):c.5322C>T (p.Phe1774=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 795777	NM_198129.4(LAMA3):c.5340C>T (p.Phe1780=)	LAMA3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 326298	NM_198129.4(LAMA3):c.5410+10A>G	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326299	NM_198129.4(LAMA3):c.5493C>T (p.Asn1831=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326300	NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)	LAMA3 (R1841H +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 326301	NM_198129.4(LAMA3):c.5613+13C>T	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326302	NM_198129.4(LAMA3):c.5613+15_5613+20del	LAMA3	Deletion (intron variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 326303	NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)	LAMA3 (L1874S +1 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326304	NM_198129.4(LAMA3):c.5773C>T (p.Arg1925Trp)	LAMA3 (R1925W +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 890293	NM_198129.4(LAMA3):c.5830G>A (p.Val1944Met)	LAMA3 (V335M +1 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326305	NM_198129.4(LAMA3):c.5848C>G (p.Gln1950Glu)	LAMA3 (Q1950E +1 more)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 890294	NM_198129.4(LAMA3):c.5865T>G (p.Asp1955Glu)	LAMA3 (D1955E +1 more)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 788005	NM_198129.4(LAMA3):c.5924G>A (p.Arg1975His)	LAMA3 (R1975H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 890859	NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)	LAMA3 (R372Q +1 more)	Single nucleotide variant (intron variant +1 more)	Laryngo-onycho-cutaneous syndrome +4 more	GConflicting classifications of pathogenicity
Select item 326306	NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)	LAMA3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326307	NM_198129.4(LAMA3):c.6013C>T (p.Arg2005Trp)	LAMA3 (R2005W +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 255573	NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=)	LAMA3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 892094	NM_198129.4(LAMA3):c.6158A>T (p.Asn2053Ile)	LAMA3 (N1997I +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326308	NM_198129.4(LAMA3):c.6202-12T>A	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 892095	NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val)	LAMA3 (I2040V +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 888642	NM_198129.4(LAMA3):c.6290C>T (p.Ala2097Val)	LAMA3 (A488V +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 709161	NM_198129.4(LAMA3):c.6436G>A (p.Ala2146Thr)	LAMA3 (A481T +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GLikely benign
Select item 888643	NM_198129.4(LAMA3):c.6507G>A (p.Val2169=)	LAMA3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326309	NM_198129.4(LAMA3):c.6509G>C (p.Arg2170Pro)	LAMA3 (R561P +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326310	NM_198129.4(LAMA3):c.6555C>T (p.Ala2185=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign
Select item 890342	NM_198129.4(LAMA3):c.6574G>A (p.Ala2192Thr)	LAMA3 (A583T +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326311	NM_198129.4(LAMA3):c.6616-13G>T	LAMA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326312	NM_198129.4(LAMA3):c.6690C>T (p.Ala2230=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 725305	NM_198129.4(LAMA3):c.6805C>G (p.Leu2269Val)	LAMA3 (L2213V +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +4 more	GBenign/Likely benign
Select item 890907	NM_198129.4(LAMA3):c.7016-7C>T	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 890908	NM_198129.4(LAMA3):c.7080G>A (p.Leu2360=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326313	NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)	LAMA3 (R2374Q +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 892140	NM_198129.4(LAMA3):c.7181A>G (p.Asn2394Ser)	LAMA3 (N785S +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326314	NM_198129.4(LAMA3):c.7218C>T (p.Asp2406=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign/Likely benign
Select item 892141	NM_198129.4(LAMA3):c.7238A>G (p.Tyr2413Cys)	LAMA3 (Y2413C +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 892142	NM_198129.4(LAMA3):c.7267C>G (p.Pro2423Ala)	LAMA3 (P2423A +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326315	NM_198129.4(LAMA3):c.7336C>T (p.Arg2446Trp)	LAMA3 (R2446W +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326316	NM_198129.4(LAMA3):c.7465C>T (p.Arg2489Trp)	LAMA3 (R2489W +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326317	NM_198129.4(LAMA3):c.7482-5A>C	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 285244	NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)	LAMA3 (N2502S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 326318	NM_198129.4(LAMA3):c.7519G>A (p.Ala2507Thr)	LAMA3 (A2507T +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 326319	NM_198129.4(LAMA3):c.7545C>T (p.Pro2515=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 890404	NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg)	LAMA3 (G2460R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 326320	NM_198129.4(LAMA3):c.7590T>C (p.Asn2530=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326321	NM_198129.4(LAMA3):c.7593G>A (p.Leu2531=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 736965	NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)	LAMA3 (Y2519H +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 326322	NM_198129.4(LAMA3):c.7727A>G (p.Asn2576Ser)	LAMA3 (N2576S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 890967	NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)	LAMA3 (T2580K +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 734769	NM_198129.4(LAMA3):c.7740A>G (p.Thr2580=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 892200	NM_198129.4(LAMA3):c.7779-8G>C	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326323	NM_198129.4(LAMA3):c.7797C>T (p.Asp2599=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +3 more	GBenign/Likely benign
Select item 709953	NM_198129.4(LAMA3):c.7818G>A (p.Thr2606=)	LAMA3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GBenign
Select item 555355	NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)	LAMA3 (R1001* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 888766	NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888767	NM_198129.4(LAMA3):c.7916A>G (p.Glu2639Gly)	LAMA3 (E974G +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326324	NM_198129.4(LAMA3):c.7928G>T (p.Arg2643Leu)	LAMA3 (R2643L +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GLikely benign
Select item 888768	NM_198129.4(LAMA3):c.7964T>C (p.Met2655Thr)	LAMA3 (M1046T +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 708962	NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 890474	NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His)	LAMA3 (R2692H +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 326325	NM_198129.4(LAMA3):c.8095G>A (p.Val2699Ile)	LAMA3 (V2699I +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326326	NM_198129.4(LAMA3):c.8104A>G (p.Thr2702Ala)	LAMA3 (T2702A +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GBenign
Select item 891031	NM_198129.4(LAMA3):c.8107A>G (p.Ile2703Val)	LAMA3 (I1094V +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GUncertain significance
Select item 891032	NM_198129.4(LAMA3):c.8138C>T (p.Thr2713Ile)	LAMA3 (T1104I +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326327	NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326328	NM_198129.4(LAMA3):c.8204G>A (p.Arg2735Gln)	LAMA3 (R2735Q +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326329	NM_198129.4(LAMA3):c.8241C>T (p.Val2747=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326330	NM_198129.4(LAMA3):c.8278T>G (p.Cys2760Gly)	LAMA3 (C2760G +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326331	NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu)	LAMA3 (S2761L +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326332	NM_198129.4(LAMA3):c.8283G>A (p.Ser2761=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +3 more	GConflicting classifications of pathogenicity
Select item 326333	NM_198129.4(LAMA3):c.8327G>A (p.Gly2776Glu)	LAMA3 (G1167E +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 255575	NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys)	LAMA3 (N1206K +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 255576	NM_198129.4(LAMA3):c.8500= (p.Gly2834=)	LAMA3	Single nucleotide variant (no sequence alteration)	not specified +4 more	GBenign
Select item 326334	NM_198129.4(LAMA3):c.8576+7G>T	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign/Likely benign
Select item 255577	NM_198129.4(LAMA3):c.8576+7G>C	LAMA3	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 890555	NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 890556	NM_198129.4(LAMA3):c.8622G>T (p.Arg2874Ser)	LAMA3 (R1265S +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 326335	NM_198129.4(LAMA3):c.8629C>T (p.His2877Tyr)	LAMA3 (H2877Y +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign/Likely benign
Select item 326336	NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys)	LAMA3 (R1277C +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326337	NM_198129.4(LAMA3):c.8657G>A (p.Arg2886His)	LAMA3 (R1277H +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326338	NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326339	NM_198129.4(LAMA3):c.8708+4G>A	LAMA3	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 255578	NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 326340	NM_198129.4(LAMA3):c.8773G>A (p.Gly2925Arg)	LAMA3 (G1316R +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance
Select item 290582	NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +3 more	GConflicting classifications of pathogenicity
Select item 555996	NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)	LAMA3 (R1342C +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GConflicting classifications of pathogenicity
Select item 326341	NM_198129.4(LAMA3):c.8898C>T (p.Ser2966=)	LAMA3	Single nucleotide variant (synonymous variant)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign
Select item 888924	NM_198129.4(LAMA3):c.9011A>G (p.Glu3004Gly)	LAMA3 (E1395G +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 326342	NM_198129.4(LAMA3):c.9027-14G>A	LAMA3	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 2A, intermediate +4 more	GConflicting classifications of pathogenicity
Select item 890622	NM_198129.4(LAMA3):c.9027-11G>A	LAMA3	Single nucleotide variant (intron variant)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign
Select item 326343	NM_198129.4(LAMA3):c.9028T>G (p.Ser3010Ala)	LAMA3 (S3010A +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +1 more	GUncertain significance

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