ClinVar for MedGen (Select 1648462) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664944	NM_000426.4(LAMA2):c.1232G>C (p.Cys411Ser)	LAMA2 (C411S)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GUncertain significance
Select item 2585267	NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr)	LAMA2 (C862Y)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	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 2446462	NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)	LAMA2 (S960fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GLikely pathogenic
Select item 2444255	NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs)	LAMA2, LOC126859784 (N2767fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GLikely pathogenic
Select item 2167228	NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)	LAMA2 (P1625L)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 1804001	NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)	LAMA2 (C1448R)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GConflicting classifications of pathogenicity
Select item 1803157	NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)	LAMA2 (E1708*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GPathogenic
Select item 1802632	NM_000426.4(LAMA2):c.[533C>T;8733G>C]	LAMA2 (T178M +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GUncertain significance
Select item 1802537	NM_000426.4(LAMA2):c.[2522G>A;2932G>A]	LAMA2 (D978N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GUncertain significance
Select item 1726885	NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)	LAMA2 (W512fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726862	NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)	LAMA2 (W543*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726793	NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)	LAMA2 (K2655fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726748	NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)	LAMA2 (F926fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726646	NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)	LAMA2 (G2187fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726627	NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)	LOC123864065, LAMA2 (K2049fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726607	NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)	LAMA2 (K1946*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726602	NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)	LAMA2, LOC123864065 (V2083fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726565	NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)	LAMA2 (S2406fs)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726549	NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)	LAMA2 (K1607fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726540	NM_000426.4(LAMA2):c.389del (p.Leu130fs)	LAMA2 (L130fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726484	NM_000426.4(LAMA2):c.1365del (p.Cys456fs)	LAMA2 (C456fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726400	NM_000426.4(LAMA2):c.2916del (p.Phe972fs)	LAMA2 (F972fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GPathogenic/Likely pathogenic
Select item 1726385	NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)	LAMA2 (R96*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726347	NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)	LAMA2 (K2493* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726328	NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)	LAMA2, LOC123864065 (K2078*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726325	NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)	LAMA2 (T2732fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726246	NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)	LAMA2 (S521fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726218	NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)	LAMA2 (N2587fs +1 more)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726193	NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)	LAMA2 (E1432*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726184	NM_000426.4(LAMA2):c.2348del (p.Pro783fs)	LAMA2 (P783fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726147	NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)	LAMA2 (S1390fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726131	NM_000426.4(LAMA2):c.2233dup (p.Val745fs)	LAMA2 (V745fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726130	NM_000426.4(LAMA2):c.2166dup (p.Val723fs)	LAMA2 (V723fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726127	NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)	LAMA2 (N2864fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726121	NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)	LAMA2 (G2215*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726056	NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)	LAMA2 (E1502*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726053	NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)	LAMA2 (L2376fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726031	NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)	LAMA2 (E1141fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725998	NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)	LAMA2 (T2524fs +1 more)	Microsatellite (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725993	NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)	LAMA2 (A2381fs)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725954	NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)	LAMA2 (G841*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725940	NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)	LAMA2 (L366*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725935	NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)	LAMA2 (V2789fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725896	NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)	LAMA2 (E2555* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725876	NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)	LAMA2 (Q1972fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725774	NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)	LAMA2 (E802*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725770	NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)	LAMA2 (N1047fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725735	NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)	LAMA2 (A170fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725724	NM_000426.4(LAMA2):c.2670del (p.Lys890fs)	LAMA2 (K890fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725692	NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)	LAMA2 (L824*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725688	NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)	LAMA2 (S960*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725656	NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)	LAMA2 (C411*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1725648	NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)	LAMA2 (S2549* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725611	NM_000426.4(LAMA2):c.1011del (p.Thr339fs)	LAMA2 (T339fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725608	NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)	LAMA2 (S2924fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725580	NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)	LAMA2 (S801fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725538	NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)	LAMA2 (R399fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725492	NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)	LAMA2 (D1585fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725484	NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)	LAMA2 (P2537fs +1 more)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725464	NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)	LAMA2 (K2432fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725459	NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)	LAMA2 (S563fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725387	NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)	LAMA2	Indel (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725294	NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)	LAMA2 (K1137*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725284	NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)	LAMA2 (E1526*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725273	NM_000426.4(LAMA2):c.512_513del (p.Val171fs)	LAMA2 (V171fs)	Microsatellite (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725233	NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)	LAMA2 (L2427fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725226	NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)	LAMA2 (S2863fs +1 more)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725148	NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)	LAMA2 (C1466fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725054	NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)	LAMA2 (E928fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724938	NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)	LAMA2 (D1688fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724868	NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)	LAMA2 (Q1892fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724772	NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)	LAMA2 (D2011fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724753	NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)	LAMA2 (Y2900* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724725	NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)	LAMA2 (T1369fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724634	NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)	LAMA2 (V669fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724575	NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)	LAMA2 (L1299*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1724549	NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)	LAMA2 (W1235*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724474	NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)	LAMA2 (T821fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724448	NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)	LAMA2 (E430fs)	Insertion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724425	NM_000426.4(LAMA2):c.1669del (p.Gln557fs)	LAMA2 (Q557fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724366	NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)	LAMA2 (Y2523fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724354	NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)	LAMA2 (G799*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724346	NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)	LAMA2 (R1729fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724344	NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)	LAMA2 (R2608* +1 more)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724194	NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)	LAMA2 (H644fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724192	NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)	LAMA2 (K477*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724182	NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)	LAMA2 (H1097fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724157	NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)	LAMA2 (R244fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724156	NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)	LAMA2 (E1951*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724133	NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)	LAMA2 (W2229*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724112	NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)	LAMA2 (C937*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724094	NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)	LAMA2 (F1758fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724092	NM_000426.4(LAMA2):c.8542del (p.His2848fs)	LAMA2 (H2844fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724079	NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)	LAMA2 (C322*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724076	NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)	LAMA2 (F2458fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1724033	NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)	LAMA2 (M1370fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1723975	NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)	LAMA2 (E1857fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1723926	NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)	LAMA2 (R1762fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1723912	NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)	LAMA2 (A2807fs +1 more)	Insertion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic

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