LAMA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
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 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 1205768	NC_000006.12:g.128882802G>A	LAMA2	Single nucleotide variant	not provided	GLikely benign
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 543886	NC_000006.12:g.(?_128883226)_(129516367_?)del	LAMA2, LOC123864065 +2 more	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 421527	NM_000426.4(LAMA2):c.-17del	LAMA2	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 652379	NC_000006.12:g.(?_128883236)_(129098425_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 1336740	NM_000426.4(LAMA2):c.-3A>G	LAMA2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 2676267	NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)	LAMA2 (G6fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 870965	NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser)	LAMA2 (A5S)	Single nucleotide variant (missense variant)	not provided +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)	LAMA2-related muscular dystrophy +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 557889	NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup)	LAMA2	Microsatellite (inframe_insertion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
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)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 2585051	NM_000426.4(LAMA2):c.29T>A (p.Leu10His)	LAMA2 (L10H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	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)	not provided +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)	not provided +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557178	NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)	LAMA2 (Q21*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
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 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)	LAMA2-related muscular dystrophy +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)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 555128	NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup)	LAMA2	Microsatellite (inframe_insertion)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 381265	NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	LAMA2 (P25L)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1148559	NM_000426.4(LAMA2):c.85C>A (p.Arg29=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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 3065029	NM_000426.4(LAMA2):c.112G>A (p.Gly38Ser)	LAMA2 (G38S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 2676272	NM_000426.4(LAMA2):c.112+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 870966	NM_000426.4(LAMA2):c.112+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 92937	NM_000426.4(LAMA2):c.112+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +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 355240	NM_000426.4(LAMA2):c.112+3dup	LAMA2	Duplication (intron variant)	Congenital Muscular Dystrophy, LAMA2-related	GUncertain significance
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 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 1676038	NM_000426.4(LAMA2):c.112+33371C>T	LAMA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684643	NC_000006.12:g.128960376_129175759del	LAMA2	Deletion	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 149243	GRCh38/hg38 6q22.33(chr6:129038932-129335187)x1	LAMA2	Copy number loss	See cases	GUncertain significance
Select item 981046	NM_000426.4(LAMA2):c.113-639del	LAMA2	Deletion (intron variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
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 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 509014	NM_000426.4(LAMA2):c.113-14T>A	LAMA2	Single nucleotide variant (intron variant)	not specified	GLikely benign

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