"GeneDx"[submitter] AND "LAMA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 1205768	NC_000006.12:g.128882802G>A	LAMA2	Single nucleotide variant	not provided	GLikely benign
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 421527	NM_000426.4(LAMA2):c.-17del	LAMA2	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 524103	NM_000426.4(LAMA2):c.12del (p.Ala5fs)	LAMA2 (A5fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 180591	NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro)	LAMA2 (L11P)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 449934	NM_000426.4(LAMA2):c.61_62del (p.Gln21fs)	LAMA2 (Q21fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1302659	NM_000426.4(LAMA2):c.70C>G (p.Arg24Gly)	LAMA2 (R24G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381265	NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	LAMA2 (P25L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355239	NM_000426.4(LAMA2):c.98C>A (p.Ala33Glu)	LAMA2 (A33E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GUncertain significance
Select item 511610	NM_000426.4(LAMA2):c.99A>G (p.Ala33=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 1258415	NM_000426.4(LAMA2):c.112+173G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298160	NM_000426.4(LAMA2):c.112+233T>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207956	NM_000426.4(LAMA2):c.113-166A>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261747	NM_000426.4(LAMA2):c.113-88A>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509014	NM_000426.4(LAMA2):c.113-14T>A	LAMA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 570290	NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)	LAMA2 (A50V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 3373153	NM_000426.4(LAMA2):c.230C>T (p.Pro77Leu)	LAMA2 (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129436	NM_000426.4(LAMA2):c.255C>T (p.Ile85=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 381584	NM_000426.4(LAMA2):c.283+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1202692	NM_000426.4(LAMA2):c.283+214G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684020	NM_000426.4(LAMA2):c.283+300G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215315	NM_000426.4(LAMA2):c.284-258T>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682899	NM_000426.4(LAMA2):c.284-131C>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682901	NM_000426.4(LAMA2):c.284-86_284-85insG	LAMA2	Insertion (intron variant)	not provided	GBenign
Select item 682905	NM_000426.4(LAMA2):c.284-85A>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309628	NM_000426.4(LAMA2):c.335G>A (p.Ser112Asn)	LAMA2 (S112N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 970204	NM_000426.4(LAMA2):c.358G>A (p.Glu120Lys)	LAMA2 (E120K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 551699	NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)	LAMA2 (Y121*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 282977	NM_000426.4(LAMA2):c.396+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GPathogenic
Select item 450173	NM_000426.4(LAMA2):c.397-35_397del	LAMA2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 506687	NM_000426.4(LAMA2):c.397-23TTG[2]	LAMA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 506847	NM_000426.4(LAMA2):c.397-15G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GBenign/Likely benign
Select item 387018	NM_000426.4(LAMA2):c.408C>T (p.Ile136=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2579427	NM_000426.4(LAMA2):c.436_437delinsAA (p.Ser146Asn)	LAMA2 (S146N)	Indel (missense variant)	not provided	GUncertain significance
Select item 543838	NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys)	LAMA2 (S146C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 162573	NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	LAMA2 (S146F)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 432307	NM_000426.4(LAMA2):c.479A>G (p.Asp160Gly)	LAMA2 (D160G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447686	NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)	LAMA2 (Y163F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 551094	NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	LAMA2 (W166*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 429283	NM_000426.4(LAMA2):c.518A>T (p.Asp173Val)	LAMA2 (D173V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1304496	NM_000426.4(LAMA2):c.521C>T (p.Thr174Met)	LAMA2 (T174M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 432590	NM_000426.4(LAMA2):c.525G>C (p.Glu175Asp)	LAMA2 (E175D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 566283	NM_000426.4(LAMA2):c.533C>T (p.Thr178Met)	LAMA2 (T178M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167238	NM_000426.4(LAMA2):c.623C>A (p.Pro208His)	LAMA2 (P208H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1211971	NM_000426.4(LAMA2):c.639+94G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189471	NM_000426.4(LAMA2):c.639+169A>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256079	NM_000426.4(LAMA2):c.640-26G>A	LAMA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 432591	NM_000426.4(LAMA2):c.665G>C (p.Arg222Thr)	LAMA2 (R222T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426628	NM_000426.4(LAMA2):c.670A>G (p.Ser224Gly)	LAMA2 (S224G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167239	NM_000426.4(LAMA2):c.675C>T (p.Ala225=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GBenign/Likely benign
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 224092	NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)	LAMA2 (R239C)	Single nucleotide variant (missense variant)	not specified +4 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 1215147	NM_000426.4(LAMA2):c.819+133ATT[9]	LAMA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1196451	NM_000426.4(LAMA2):c.819+133ATT[5]	LAMA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 682904	NM_000426.4(LAMA2):c.819+197G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250114	NM_000426.4(LAMA2):c.819+205C>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203829	NM_000426.4(LAMA2):c.819+240A>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1308227	NM_000426.4(LAMA2):c.898C>T (p.Pro300Ser)	LAMA2 (P300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304403	NM_000426.4(LAMA2):c.908A>C (p.Asn303Thr)	LAMA2 (N303T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682907	NM_000426.4(LAMA2):c.909+95A>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297406	NM_000426.4(LAMA2):c.909+233dup	LAMA2	Duplication (intron variant)	not provided	GBenign
Select item 1258782	NM_000426.4(LAMA2):c.909+232_909+233dup	LAMA2	Duplication (intron variant)	not provided	GBenign
Select item 1217087	NM_000426.4(LAMA2):c.909+231_909+233dup	LAMA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1188470	NM_000426.4(LAMA2):c.909+233del	LAMA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1186916	NM_000426.4(LAMA2):c.909+231_909+233del	LAMA2	Deletion (intron variant)	not provided	GLikely benign
Select item 668910	NM_000426.4(LAMA2):c.910-311C>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219045	NM_000426.4(LAMA2):c.910-105A>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421904	NM_000426.4(LAMA2):c.910-14del	LAMA2	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 452206	NM_000426.4(LAMA2):c.917G>A (p.Arg306His)	LAMA2 (R306H)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 235618	NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)	LAMA2 (E308K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +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)	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 856319	NM_000426.4(LAMA2):c.1027+3A>G	LAMA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706119	NM_000426.4(LAMA2):c.1127G>T (p.Gly376Val)	LAMA2 (G376V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256050	NM_000426.4(LAMA2):c.1206+11C>T	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GBenign/Likely benign
Select item 1178640	NM_000426.4(LAMA2):c.1206+77T>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258625	NM_000426.4(LAMA2):c.1206+107C>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682900	NM_000426.4(LAMA2):c.1207-134G>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187732	NM_000426.4(LAMA2):c.1207-64C>A	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304404	NM_000426.4(LAMA2):c.1235A>G (p.Gln412Arg)	LAMA2 (Q412R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 524014	NM_000426.4(LAMA2):c.1279_1280del (p.Val427fs)	LAMA2 (V427fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 477436	NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	LAMA2 (R434*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 235805	NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	LAMA2 (R435*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 682915	NM_000426.4(LAMA2):c.1306+93T>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264280	NM_000426.4(LAMA2):c.1306+269AG[4]	LAMA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1197163	NM_000426.4(LAMA2):c.1307-284A>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217084	NM_000426.4(LAMA2):c.1307-117A>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682917	NM_000426.4(LAMA2):c.1307-115A>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3378237	NM_000426.4(LAMA2):c.1307-9T>C	LAMA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 211350	NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 256053	NM_000426.4(LAMA2):c.1467+38C>T	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1282605	NM_000426.4(LAMA2):c.1467+138_1467+139insTATAAATGTCTTTAAATGCCC	LAMA2	Insertion (intron variant)	not provided	GBenign

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