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Links from MedGen

Items: 1 to 100 of 642

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(M2690fs +1 more)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(D547fs)
Microsatellite
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(D2982fs +1 more)
Microsatellite
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(N1781fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(E2991* +1 more)
Microsatellite
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
(W330fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(C930fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(G6fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(S925fs)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(D908fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(W2843* +1 more)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(E1630fs)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LOC123864065, LAMA2
(Q2035*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(G62fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(H1621fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
(F397fs)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(L2561fs +1 more)
Insertion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(R1366fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(G935*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(W2208*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2, LOC126859784
(A2749fs +1 more)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Indel
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(Q1440fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(Q508*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(Q1626fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Microsatellite
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(L561fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(A2872fs +1 more)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Deletion
(splice donor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(C1429fs)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(D1328fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(K3070fs +1 more)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(S659*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
(E658fs)
Indel
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(G374fs)
Indel
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(W2316*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Microsatellite
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(E2335fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(M2981fs +1 more)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(C930*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(F2925fs +1 more)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(Y839fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(C287*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(intron variant)
Merosin deficient congenital muscular dystrophy
GUncertain significance
LAMA2
Microsatellite
(nonsense)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
(S1483fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
Duplication
(nonsense)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
Merosin deficient congenital muscular dystrophy
GLikely pathogenic
LAMA2
(R148fs)
Deletion
(frameshift variant)
Merosin deficient congenital muscular dystrophy
GPathogenic
LAMA2
Deletion
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
LAMA2
(P1625L)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+2 more
GUncertain significance
LAMA2, LOC123864065
(D2050fs)
Deletion
(frameshift variant)
LAMA2-related muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
LAMA2
(Y583*)
Single nucleotide variant
(nonsense)
Merosin deficient congenital muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
LAMA2-related muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice acceptor variant)
LAMA2-related muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
Single nucleotide variant
(splice donor variant)
Merosin deficient congenital muscular dystrophy
+1 more
GLikely pathogenic
LAMA2
(E795*)
Single nucleotide variant
(nonsense)
LAMA2-related muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
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)
Merosin deficient congenital muscular dystrophy
+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
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