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Items: 1 to 100 of 315

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GLikely pathogenic
LAMA2
(C2679* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GLikely pathogenic
LAMA2
(C411S)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(C862Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(L10H)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(S960fs)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GLikely pathogenic
LAMA2, LOC126859784
(N2767fs +1 more)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GLikely pathogenic
LAMA2
Deletion
(splice donor variant)
not provided
+1 more
GUncertain significance
LAMA2
(P1625L)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+2 more
GUncertain significance
LAMA2
(C1448R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LAMA2
(E1708*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
LAMA2
(T178M +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(D978N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(W512fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(W543*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K2655fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(F926fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(G2187fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LOC123864065, LAMA2
(K2049fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K1946*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2, LOC123864065
(V2083fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S2406fs)
Indel
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K1607fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L130fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(C456fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(F972fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+2 more
GPathogenic/Likely pathogenic
LAMA2
(R96*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K2493* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2, LOC123864065
(K2078*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(T2732fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S521fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(N2587fs +1 more)
Indel
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E1432*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(P783fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S1390fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(V745fs)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(V723fs)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(N2864fs +1 more)
Duplication
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(G2215*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E1502*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L2376fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E1141fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(T2524fs +1 more)
Microsatellite
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(A2381fs)
Indel
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(G841*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L366*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(V2789fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E2555* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(Q1972fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E802*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(N1047fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(A170fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K890fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L824*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S960*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(C411*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
LAMA2
(S2549* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(T339fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S2924fs +1 more)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S801fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(R399fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(D1585fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(P2537fs +1 more)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K2432fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S563fs)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
Indel
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(K1137*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E1526*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(V171fs)
Microsatellite
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L2427fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(S2863fs +1 more)
Insertion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(C1466fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(E928fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(D1688fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(Q1892fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(D2011fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(Y2900* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(T1369fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(V669fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(L1299*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+1 more
GLikely pathogenic
LAMA2
(W1235*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(T821fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(E430fs)
Insertion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(Q557fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(Y2523fs +1 more)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(G799*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(R1729fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(R2608* +1 more)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(H644fs)
Indel
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(K477*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(H1097fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(R244fs)
Microsatellite
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(E1951*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(W2229*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(C937*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(F1758fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(H2844fs +1 more)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(C322*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(F2458fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(M1370fs)
Indel
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
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