C5679788[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543886	NC_000006.12:g.(?_128883226)_(129516367_?)del	LAMA2, LOC123864065 +2 more	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 652379	NC_000006.12:g.(?_128883236)_(129098425_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 477459	NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)	LAMA2 (M1T)	Single nucleotide variant (missense variant +1 more)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 999376	NM_000426.4(LAMA2):c.5C>G (p.Pro2Arg)	LAMA2 (P2R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2015706	NM_000426.4(LAMA2):c.6G>T (p.Pro2=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1991208	NM_000426.4(LAMA2):c.6G>A (p.Pro2=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2189738	NM_000426.4(LAMA2):c.7G>A (p.Gly3Arg)	LAMA2 (G3R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
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 2913817	NM_000426.4(LAMA2):c.12C>T (p.Ala4=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1099739	NM_000426.4(LAMA2):c.12C>G (p.Ala4=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 870965	NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser)	LAMA2 (A5S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 193095	NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr)	LAMA2 (A5T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2062017	NM_000426.4(LAMA2):c.15C>T (p.Ala5=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 750248	NM_000426.4(LAMA2):c.15C>A (p.Ala5=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1630575	NM_000426.4(LAMA2):c.18G>T (p.Gly6=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1579384	NM_000426.4(LAMA2):c.18G>C (p.Gly6=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1156786	NM_000426.4(LAMA2):c.18G>A (p.Gly6=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1981740	NM_000426.4(LAMA2):c.24C>T (p.Leu8=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1641688	NM_000426.4(LAMA2):c.24C>A (p.Leu8=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2084855	NM_000426.4(LAMA2):c.26T>A (p.Leu9His)	LAMA2 (L9H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2720402	NM_000426.4(LAMA2):c.28C>T (p.Leu10Phe)	LAMA2 (L10F)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 554332	NM_000426.4(LAMA2):c.30_32del (p.Leu13del)	LAMA2 (L13del)	Deletion (inframe_deletion)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 3019741	NM_000426.4(LAMA2):c.30T>C (p.Leu10=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 355237	NM_000426.4(LAMA2):c.30T>G (p.Leu10=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
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 1116501	NM_000426.4(LAMA2):c.42C>T (p.Ser14=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1605813	NM_000426.4(LAMA2):c.45A>G (p.Gly15=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 569554	NM_000426.4(LAMA2):c.47G>A (p.Gly16Asp)	LAMA2 (G16D)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2197064	NM_000426.4(LAMA2):c.52G>C (p.Gly18Arg)	LAMA2 (G18R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2020751	NM_000426.4(LAMA2):c.54_64del (p.Gly19fs)	LAMA2 (G19fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 793207	NM_000426.4(LAMA2):c.54G>A (p.Gly18=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2091496	NM_000426.4(LAMA2):c.58dup (p.Val20fs)	LAMA2 (V20fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 1958419	NM_000426.4(LAMA2):c.57C>A (p.Gly19=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1094675	NM_000426.4(LAMA2):c.57C>T (p.Gly19=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1018268	NM_000426.4(LAMA2):c.59T>C (p.Val20Ala)	LAMA2 (V20A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 2911354	NM_000426.4(LAMA2):c.60A>G (p.Val20=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
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 557178	NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)	LAMA2 (Q21*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2120850	NM_000426.4(LAMA2):c.66G>T (p.Ala22=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2003638	NM_000426.4(LAMA2):c.66G>A (p.Ala22=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2031053	NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter)	LAMA2 (Q23*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
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 1084264	NM_000426.4(LAMA2):c.72G>C (p.Arg24=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 557960	NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup)	LAMA2	Microsatellite (inframe_insertion)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 381265	NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	LAMA2 (P25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1148559	NM_000426.4(LAMA2):c.85C>A (p.Arg29=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 2912299	NM_000426.4(LAMA2):c.87G>A (p.Arg29=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
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 2900390	NM_000426.4(LAMA2):c.99A>T (p.Ala33=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
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 1980787	NM_000426.4(LAMA2):c.100C>T (p.His34Tyr)	LAMA2 (H34Y)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 92936	NM_000426.4(LAMA2):c.101A>G (p.His34Arg)	LAMA2 (H34R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 2703292	NM_000426.4(LAMA2):c.102T>C (p.His34=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 552296	NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)	LAMA2 (Q36*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1094934	NM_000426.4(LAMA2):c.108A>G (p.Gln36=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1912215	NM_000426.4(LAMA2):c.112+2_112+12del	LAMA2	Deletion (splice donor variant)	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 92937	NM_000426.4(LAMA2):c.112+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 849735	NM_000426.4(LAMA2):c.112+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 2181879	NM_000426.4(LAMA2):c.112+7T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1536645	NM_000426.4(LAMA2):c.112+7T>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1538349	NM_000426.4(LAMA2):c.112+8C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1595340	NM_000426.4(LAMA2):c.112+9G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2707093	NM_000426.4(LAMA2):c.112+10A>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2109601	NM_000426.4(LAMA2):c.112+15T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2069852	NM_000426.4(LAMA2):c.112+19C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2913499	NM_000426.4(LAMA2):c.112+21del	LAMA2	Deletion (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 543888	NC_000006.11:g.(?_129371043)_(129622037_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GPathogenic
Select item 3012357	NM_000426.4(LAMA2):c.113-16del	LAMA2	Deletion (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020265	NM_000426.4(LAMA2):c.113-13C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1593003	NM_000426.4(LAMA2):c.113-11A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1581174	NM_000426.4(LAMA2):c.113-8T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2743707	NM_000426.4(LAMA2):c.113-4T>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1973508	NM_000426.4(LAMA2):c.113-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 583703	NC_000006.11:g.(?_129371063)_(129622017_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 1121084	NM_000426.4(LAMA2):c.114T>C (p.Gly38=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2854103	NM_000426.4(LAMA2):c.120C>T (p.Phe40=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2894326	NM_000426.4(LAMA2):c.142T>C (p.Ser48Pro)	LAMA2 (S48P)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 759372	NM_000426.4(LAMA2):c.144T>C (p.Ser48=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1948748	NM_000426.4(LAMA2):c.147T>C (p.Asn49=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	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 579145	NM_000426.4(LAMA2):c.151C>T (p.Leu51Phe)	LAMA2 (L51F)	Single nucleotide variant (missense variant)	not provided +1 more	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 955632	NM_000426.4(LAMA2):c.158C>T (p.Thr53Met)	LAMA2 (T53M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 793619	NM_000426.4(LAMA2):c.159G>A (p.Thr53=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1907738	NM_000426.4(LAMA2):c.164A>G (p.Asn55Ser)	LAMA2 (N55S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2838137	NM_000426.4(LAMA2):c.168A>T (p.Ala56=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1605329	NM_000426.4(LAMA2):c.174T>C (p.Cys58=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3011256	NM_000426.4(LAMA2):c.177A>G (p.Gly59=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2055272	NM_000426.4(LAMA2):c.179A>T (p.Glu60Val)	LAMA2 (E60V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
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 1650161	NM_000426.4(LAMA2):c.186A>T (p.Gly62=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2887327	NM_000426.4(LAMA2):c.189T>A (p.Pro63=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1639452	NM_000426.4(LAMA2):c.189T>C (p.Pro63=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1377321	NM_000426.4(LAMA2):c.194T>A (p.Met65Lys)	LAMA2 (M65K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 477446	NM_000426.4(LAMA2):c.195G>A (p.Met65Ile)	LAMA2 (M65I)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 863340	NM_000426.4(LAMA2):c.208G>A (p.Val70Ile)	LAMA2 (V70I)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2848081	NM_000426.4(LAMA2):c.213A>G (p.Glu71=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 743877	NM_000426.4(LAMA2):c.216T>C (p.His72=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 477449	NM_000426.4(LAMA2):c.219C>G (p.Val73=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3019522	NM_000426.4(LAMA2):c.222T>C (p.Pro74=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign

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