"Illumina Laboratory Services, Illumina"[submitter] AND "LAMA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 355233	NM_000426.4(LAMA2):c.-103C>T	LAMA2	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355234	NM_000426.4(LAMA2):c.-99A>G	LAMA2	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GLikely benign
Select item 355235	NM_000426.4(LAMA2):c.-95GCT[2]	LAMA2	Microsatellite (5 prime UTR variant)	Congenital Muscular Dystrophy, LAMA2-related	GUncertain significance
Select item 355236	NM_000426.4(LAMA2):c.-72G>A	LAMA2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 355237	NM_000426.4(LAMA2):c.30T>G (p.Leu10=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 355238	NM_000426.4(LAMA2):c.61C>G (p.Gln21Glu)	LAMA2 (Q21E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 906785	NM_000426.4(LAMA2):c.62A>G (p.Gln21Arg)	LAMA2 (Q21R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 381265	NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	LAMA2 (P25L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 355239	NM_000426.4(LAMA2):c.98C>A (p.Ala33Glu)	LAMA2 (A33E)	Single nucleotide variant (missense variant)	LAMA2-related condition +4 more	GUncertain significance
Select item 355240	NM_000426.4(LAMA2):c.112+3dup	LAMA2	Duplication (intron variant)	Congenital Muscular Dystrophy, LAMA2-related	GUncertain significance
Select item 92938	NM_000426.4(LAMA2):c.156C>T (p.Ile52=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 355241	NM_000426.4(LAMA2):c.194T>C (p.Met65Thr)	LAMA2 (M65T)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355242	NM_000426.4(LAMA2):c.237G>A (p.Arg79=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 129436	NM_000426.4(LAMA2):c.255C>T (p.Ile85=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 92955	NM_000426.4(LAMA2):c.381C>A (p.Thr127=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 907772	NM_000426.4(LAMA2):c.396+3A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 642958	NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	LAMA2 (A137T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 256069	NM_000426.4(LAMA2):c.411G>A (p.Ala137=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 631970	NM_000426.4(LAMA2):c.463G>T (p.Glu155Ter)	LAMA2 (E155*)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 904443	NM_000426.4(LAMA2):c.519C>T (p.Asp173=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 287678	NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)	LAMA2 (C199S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GUncertain significance
Select item 557426	NM_000426.4(LAMA2):c.640-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Congenital Muscular Dystrophy, LAMA2-related +1 more	GPathogenic/Likely pathogenic
Select item 167239	NM_000426.4(LAMA2):c.675C>T (p.Ala225=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 641637	NM_000426.4(LAMA2):c.716G>A (p.Arg239His)	LAMA2 (R239H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 904444	NM_000426.4(LAMA2):c.718T>C (p.Tyr240His)	LAMA2 (Y240H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 355243	NM_000426.4(LAMA2):c.805A>G (p.Ile269Val)	LAMA2 (I269V)	Single nucleotide variant (missense variant)	Congenital Muscular Dystrophy, LAMA2-related	GUncertain significance
Select item 355244	NM_000426.4(LAMA2):c.818G>A (p.Arg273Lys)	LAMA2 (R273K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355245	NM_000426.4(LAMA2):c.819+7T>C	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 656307	NM_000426.4(LAMA2):c.831G>A (p.Ser277=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 235618	NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)	LAMA2 (E308K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450302	NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	LAMA2 (D316N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 631971	NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)	LAMA2 (R362*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 355246	NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)	LAMA2 (R362I)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 355247	NM_000426.4(LAMA2):c.1169G>C (p.Cys390Ser)	LAMA2 (C390S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 256050	NM_000426.4(LAMA2):c.1206+11C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 211350	NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 906829	NM_000426.4(LAMA2):c.1319G>A (p.Gly440Glu)	LAMA2 (G440E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GUncertain significance
Select item 355248	NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)	LAMA2 (R458K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +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 +4 more	GBenign/Likely benign
Select item 477440	NM_000426.4(LAMA2):c.1467+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 355249	NM_000426.4(LAMA2):c.1467+12A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 129433	NM_000426.4(LAMA2):c.1491T>C (p.Cys497=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 355250	NM_000426.4(LAMA2):c.1506C>A (p.Ser502=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 129434	NM_000426.4(LAMA2):c.1533T>C (p.Asn511=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 355251	NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val)	LAMA2 (E517V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 355252	NM_000426.4(LAMA2):c.1558T>C (p.Cys520Arg)	LAMA2 (C520R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 477443	NM_000426.4(LAMA2):c.1562C>T (p.Ser521Leu)	LAMA2 (S521L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 447681	NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn)	LAMA2 (S529N)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GBenign/Likely benign
Select item 907819	NM_000426.4(LAMA2):c.1615G>C (p.Asp539His)	LAMA2 (D539H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 92939	NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)	LAMA2 (S541G)	Single nucleotide variant (missense variant)	LAMA2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 92940	NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)	LAMA2 (L545Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 477444	NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 904504	NM_000426.4(LAMA2):c.1652G>A (p.Arg551His)	LAMA2 (R551H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 193991	NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GBenign/Likely benign
Select item 355253	NM_000426.4(LAMA2):c.1715C>T (p.Ala572Val)	LAMA2 (A572V)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GUncertain significance
Select item 355254	NM_000426.4(LAMA2):c.1716G>C (p.Ala572=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 904505	NM_000426.4(LAMA2):c.1757C>T (p.Ala586Val)	LAMA2 (A586V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 193992	NM_000426.4(LAMA2):c.1782+10C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 256054	NM_000426.4(LAMA2):c.1782+14T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 92941	NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)	LAMA2 (G600R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 92943	NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)	LAMA2 (R619H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GBenign
Select item 129435	NM_000426.4(LAMA2):c.1930C>G (p.His644Asp)	LAMA2 (H644D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 905294	NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly)	LAMA2 (A679G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 382694	NM_000426.4(LAMA2):c.2097-13T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 355255	NM_000426.4(LAMA2):c.2097-3T>C	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 92945	NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 355256	NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val)	LAMA2 (I717V)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 435712	NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	LAMA2 (W739C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 477452	NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val)	LAMA2 (A763V)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 167240	NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 355257	NM_000426.4(LAMA2):c.2323-7T>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 906895	NM_000426.4(LAMA2):c.2358T>A (p.Asp786Glu)	LAMA2 (D786E)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 477453	NM_000426.4(LAMA2):c.2361A>C (p.Lys787Asn)	LAMA2 (K787N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 705544	NM_000426.4(LAMA2):c.2427T>C (p.Cys809=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 162584	NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)	LAMA2 (T821M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 167241	NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)	LAMA2 (R826W)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 906896	NM_000426.4(LAMA2):c.2527C>A (p.Arg843Ser)	LAMA2 (R843S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355258	NM_000426.4(LAMA2):c.2527C>T (p.Arg843Cys)	LAMA2 (R843C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 907883	NM_000426.4(LAMA2):c.2545G>A (p.Glu849Lys)	LAMA2 (E849K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355259	NM_000426.4(LAMA2):c.2686C>T (p.Arg896Trp)	LAMA2 (R896W)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 907884	NM_000426.4(LAMA2):c.2710G>A (p.Gly904Arg)	LAMA2 (G904R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 355260	NM_000426.4(LAMA2):c.2714A>G (p.Tyr905Cys)	LAMA2 (Y905C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 256058	NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 92948	NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu)	LAMA2 (R919L)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 92949	NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 195461	NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg)	LAMA2 (Q944R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GUncertain significance
Select item 387859	NM_000426.4(LAMA2):c.2856+13G>A	LAMA2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 355261	NM_000426.4(LAMA2):c.2857-13C>T	LAMA2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 451649	NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn)	LAMA2 (D978N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705893	NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)	LAMA2 (G1002S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 355262	NM_000426.4(LAMA2):c.3086G>A (p.Arg1029Gln)	LAMA2 (R1029Q)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 904575	NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser)	LAMA2 (L1068S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 129437	NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)	LAMA2 (N1099S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +5 more	GBenign/Likely benign
Select item 355263	NM_000426.4(LAMA2):c.3304C>T (p.Arg1102Cys)	LAMA2 (R1102C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905361	NM_000426.4(LAMA2):c.3333T>A (p.Pro1111=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905362	NM_000426.4(LAMA2):c.3338C>T (p.Thr1113Ile)	LAMA2 (T1113I)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 92951	NM_000426.4(LAMA2):c.3411+13G>A	LAMA2	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92952	NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)	LAMA2 (V1138M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 355264	NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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