"PreventionGenetics, part of Exact Sciences"[submitter] AND "LAMA2"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 muscular dystrophy +4 more	GUncertain significance
Select item 92938	NM_000426.4(LAMA2):c.156C>T (p.Ile52=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GBenign
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 387018	NM_000426.4(LAMA2):c.408C>T (p.Ile136=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +2 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 256079	NM_000426.4(LAMA2):c.640-26G>A	LAMA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 167239	NM_000426.4(LAMA2):c.675C>T (p.Ala225=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1160167	NM_000426.4(LAMA2):c.879C>T (p.Ala293=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 256093	NM_000426.4(LAMA2):c.909+32T>A	LAMA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2632433	NM_000426.4(LAMA2):c.1139A>G (p.Asn380Ser)	LAMA2 (N380S)	Single nucleotide variant (missense variant)	LAMA2-related disorder	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 256051	NM_000426.4(LAMA2):c.1207-28G>A	LAMA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 703350	NM_000426.4(LAMA2):c.1207-10T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 211350	NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +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)	LAMA2-related muscular dystrophy +4 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 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 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 92939	NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)	LAMA2 (S541G)	Single nucleotide variant (missense variant)	not provided +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)	not provided +5 more	GConflicting classifications of pathogenicity
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 193992	NM_000426.4(LAMA2):c.1782+10C>T	LAMA2	Single nucleotide variant (intron variant)	not provided +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)	not provided +3 more	GBenign/Likely benign
Select item 380542	NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)	LAMA2 (T605I)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 92943	NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)	LAMA2 (R619H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GBenign
Select item 256055	NM_000426.4(LAMA2):c.1884+50A>C	LAMA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1139950	NM_000426.4(LAMA2):c.2001T>C (p.Phe667=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 706897	NM_000426.4(LAMA2):c.2121C>T (p.Ser707=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +2 more	GLikely benign
Select item 256056	NM_000426.4(LAMA2):c.2323-18T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GBenign/Likely benign
Select item 256057	NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 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 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 256059	NM_000426.4(LAMA2):c.2749+24C>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 256060	NM_000426.4(LAMA2):c.2749+34T>C	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GBenign
Select item 3036374	NM_000426.4(LAMA2):c.2857-48C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 3048306	NM_000426.4(LAMA2):c.2857-47G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 256062	NM_000426.4(LAMA2):c.2857-39T>C	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 256061	NM_000426.4(LAMA2):c.2857-14T>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 705893	NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)	LAMA2 (G1002S)	Single nucleotide variant (missense variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 290869	NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)	LAMA2 (N1005S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 256063	NM_000426.4(LAMA2):c.3037+49G>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 451960	NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)	LAMA2 (S1052G)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3046875	NM_000426.4(LAMA2):c.3168T>C (p.Gly1056=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder	GLikely benign
Select item 256064	NM_000426.4(LAMA2):c.3174+38A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GBenign
Select item 256066	NM_000426.4(LAMA2):c.3175-32_3175-31del	LAMA2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1223572	NM_000426.4(LAMA2):c.3175-25G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder +1 more	GBenign/Likely benign
Select item 256065	NM_000426.4(LAMA2):c.3175-22G>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 702254	NM_000426.4(LAMA2):c.3213A>G (p.Gln1071=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GBenign/Likely benign
Select item 211352	NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
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 1578027	NM_000426.4(LAMA2):c.3429C>T (p.Ile1143=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 162576	NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	LAMA2 (A1178T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +5 more	GConflicting classifications of pathogenicity
Select item 92953	NM_000426.4(LAMA2):c.3556-15T>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 256067	NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +3 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 256068	NM_000426.4(LAMA2):c.3969T>C (p.Thr1323=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1684516	NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)	LAMA2 (P1373L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1630867	NM_000426.4(LAMA2):c.4164C>T (p.Gly1388=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 389231	NM_000426.4(LAMA2):c.4176+9C>T	LAMA2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 256070	NM_000426.4(LAMA2):c.4311+32C>G	LAMA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 426986	NM_000426.4(LAMA2):c.4349G>A (p.Arg1450Gln)	LAMA2 (R1450Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 92958	NM_000426.4(LAMA2):c.4437-5T>A	LAMA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 92959	NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GBenign/Likely benign
Select item 196660	NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	LAMA2 (A1496V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 964923	NM_000426.4(LAMA2):c.4495C>T (p.Arg1499Trp)	LAMA2 (R1499W)	Single nucleotide variant (missense variant)	LAMA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 92960	NM_000426.4(LAMA2):c.4523+19C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GBenign
Select item 3030116	NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter)	LAMA2 (W1563*)	Single nucleotide variant (nonsense)	LAMA2-related disorder	GLikely pathogenic
Select item 256071	NM_000426.4(LAMA2):c.4718-37G>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1543868	NM_000426.4(LAMA2):c.4734C>T (p.Cys1578=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 92962	NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)	LAMA2 (G1584S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 196881	NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 256072	NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 355272	NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 92963	NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GBenign
Select item 506640	NM_000426.4(LAMA2):c.4960-16G>A	LAMA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 779490	NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 211353	NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)	LAMA2 (R1674K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 256073	NM_000426.4(LAMA2):c.5071+18A>G	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 477480	NM_000426.4(LAMA2):c.5072-10C>A	LAMA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 256074	NM_000426.4(LAMA2):c.5121C>T (p.Asp1707=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 772808	NM_000426.4(LAMA2):c.5140T>C (p.Leu1714=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3047752	NM_000426.4(LAMA2):c.5235-28T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 256075	NM_000426.4(LAMA2):c.5280G>A (p.Glu1760=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GBenign/Likely benign
Select item 551387	NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)	LAMA2 (L1776fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 92966	NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92967	NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 477490	NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)	LAMA2 (D1837N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374557	NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)	LAMA2 (R1844C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 92968	NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)	LAMA2 (R1844S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 355280	NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)	LAMA2 (I1853R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 256077	NM_000426.4(LAMA2):c.5727-27C>A	LAMA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 256076	NM_000426.4(LAMA2):c.5727-24T>A	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GBenign
Select item 256078	NM_000426.4(LAMA2):c.5769A>G (p.Ala1923=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 235524	NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser)	LAMA2 (C1970S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

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