"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LAMA2"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92942	NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)	LAMA2 (G62*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 966128	NM_000426.4(LAMA2):c.307A>G (p.Ile103Val)	LAMA2 (I103V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 642958	NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	LAMA2 (A137T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 659664	NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln)	LAMA2 (R148Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GUncertain significance
Select item 392744	NM_000426.4(LAMA2):c.711C>T (p.Ser237=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GLikely benign
Select item 571211	NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr)	LAMA2 (A238T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GUncertain significance
Select item 218454	NM_000426.4(LAMA2):c.725G>A (p.Arg242His)	LAMA2 (R242H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GUncertain significance
Select item 426679	NM_000426.4(LAMA2):c.848T>C (p.Val283Ala)	LAMA2 (V283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 450302	NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	LAMA2 (D316N)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 552966	NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	LAMA2 (C318fs)	Insertion (frameshift variant)	LAMA2-related muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 355248	NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)	LAMA2 (R458K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 162575	NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)	LAMA2 (P464L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 256052	NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)	LAMA2 (A468G)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 641857	NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)	LAMA2 (R499C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 551956	NM_000426.4(LAMA2):c.1793_1795del (p.Val598del)	LAMA2 (V598del)	Deletion (inframe_deletion)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 477451	NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)	LAMA2 (G747A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 550426	NM_000426.4(LAMA2):c.2451-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 447683	NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)	LAMA2 (R826Q)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 573318	NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)	LAMA2 (G838R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GUncertain significance
Select item 477455	NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	LAMA2 (F852fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 969594	NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser)	LAMA2 (N870S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 1473958	NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser)	LAMA2 (G945S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 279978	NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)	LAMA2 (C1072fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 373189	NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)	LAMA2 (H1082Y)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 129437	NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)	LAMA2 (N1099S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1299048	NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro)	LAMA2 (T1135P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 162576	NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	LAMA2 (A1178T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 129438	NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)	LAMA2 (T1205A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GBenign/Likely benign
Select item 641786	NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg)	LAMA2 (M1221R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 653378	NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe)	LAMA2 (S1268F)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 543854	NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)	LAMA2 (V1288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 92956	NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2 (R1326*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 477467	NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)	LAMA2 (H1337R)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 665251	NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)	LAMA2 (M1359V)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1039834	NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GConflicting classifications of pathogenicity
Select item 355268	NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)	LAMA2 (R1402H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +5 more	GConflicting classifications of pathogenicity
Select item 817614	NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)	LAMA2 (S1427fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 552022	NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)	LAMA2 (T1547M)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 543860	NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln)	LAMA2 (E1649Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 196937	NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)	LAMA2 (V1657M)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 649508	NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)	LAMA2 (E1684K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1118386	NM_000426.4(LAMA2):c.5072-9C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GLikely benign
Select item 287913	NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	LAMA2 (R1706*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 355276	NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln)	LAMA2 (E1727Q)	Single nucleotide variant (missense variant)	Polymicrogyria +5 more	GUncertain significance
Select item 477486	NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)	LAMA2 (R1802L)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1516058	NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)	LAMA2 (R1826Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 197024	NM_000426.4(LAMA2):c.5562+5G>C	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 656982	NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser)	LAMA2 (P1865S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 92974	NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	Merosin deficient congenital muscular dystrophy +5 more	GBenign/Likely benign
Select item 197478	NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	LAMA2, LOC123864065 (Q2054R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 284415	NM_000426.4(LAMA2):c.6268+5G>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +6 more	GUncertain significance
Select item 92976	NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)	LAMA2 (R2108W)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 556858	NM_000426.4(LAMA2):c.6429+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1447839	NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile)	LAMA2 (V2174I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 92978	NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)	LAMA2 (S2188N)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 355293	NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)	LAMA2 (M2278V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 355294	NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)	LAMA2 (R2353C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 431964	NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	LAMA2 (Y2358*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 435714	NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)	LAMA2 (T2363I)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 14300	NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	LAMA2 (R2383*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GPathogenic
Select item 162578	NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)	LAMA2 (H2417R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 959370	NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)	LAMA2 (L2460fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 435715	NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)	LAMA2 (G2472V)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1056728	NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)	LAMA2 (L2492F +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 558356	NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)	LAMA2 (D2494fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 581047	NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn)	LAMA2 (T2518N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GUncertain significance
Select item 14296	NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	LAMA2 (R2578* +1 more)	Single nucleotide variant (nonsense)	Congenital Muscular Dystrophy, LAMA2-related +5 more	GPathogenic
Select item 903728	NM_000426.4(LAMA2):c.7898+12A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1684517	NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)	LAMA2 (L2656I +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 447693	NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)	LAMA2 (P2671T +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 550992	NM_000426.4(LAMA2):c.8244+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 198300	NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)	LAMA2 (D2833Y +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 435716	NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)	LAMA2 (I2842V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 129445	NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)	LAMA2 (N2843S +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GBenign/Likely benign
Select item 983652	NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)	LAMA2 (Q2842* +1 more)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 92991	NM_000426.4(LAMA2):c.8548-10T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +5 more	GBenign/Likely benign
Select item 129446	NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +4 more	GBenign
Select item 385982	NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)	LAMA2 (P2925L +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 355305	NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)	LAMA2 (G2946R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 432055	NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)	LAMA2 (G2948S +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 566814	NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)	LAMA2 (R2969C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 851137	NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)	LAMA2 (A3001V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GConflicting classifications of pathogenicity
Select item 579990	NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)	LAMA2 (A3054E +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 581254	NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His)	LAMA2 (P3063H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 162583	NM_000426.4(LAMA2):c.9211+6T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 1311466	NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe)	LAMA2 (L3069F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 355307	NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys)	LAMA2 (E3110K +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 87