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Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
(D978N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
GUncertain significance
LAMA2
(V1821I)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(T1794A)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(C1420R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GUncertain significance
LAMA2
(P1412Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(G904R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(E849K)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(D539H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(R843S)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(D786E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(G440E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(Q21R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(T2815A +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GUncertain significance
LAMA2
(R2803G +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GConflicting classifications of pathogenicity
LAMA2, LOC126859784
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(V2411I)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
LAMA2
(G2396R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2, LOC123864065
(N2061K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMA2
(G1763E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(Q3075K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(R3032H +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(V2658A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LAMA2
(R2383Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(I2002M)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(A1945P)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(D1908N)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(G1170S)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+1 more
GUncertain significance
LAMA2
(T1113I)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(A679G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA2
(R2231S)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(S2212C)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(R2200C)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(A1846T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMA2
(P1531R)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(L1068S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LAMA2
(A586V)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(R551H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(Y240H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(W3021R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(N3003D +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
Single nucleotide variant
(intron variant)
Merosin deficient congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
LAMA2
(Q1591R)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(G1002S)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(T2891S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LAMA2
(Y1386F)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(G2561S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
LAMA2
(G1559S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LAMA2
(R2295H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
(A137T)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+4 more
GConflicting classifications of pathogenicity
LAMA2
(R239H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LAMA2, LOC123864065
(S2087Y)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GUncertain significance
LAMA2
(D2274fs)
Deletion
(frameshift variant)
LAMA2-related muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
LAMA2
(E1764fs)
Duplication
(frameshift variant)
Merosin deficient congenital muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
LAMA2
(R362*)
Single nucleotide variant
(nonsense)
Muscular dystrophy, limb-girdle, autosomal recessive 23
+2 more
GConflicting classifications of pathogenicity
LAMA2
(E155*)
Single nucleotide variant
(nonsense)
Congenital muscular dystrophy due to partial LAMA2 deficiency
GUncertain significance
LAMA2
(D1540E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GUncertain significance
LAMA2
(E1720Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMA2
(R2231H)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
LAMA2
(R2969C +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LAMA2
(E1815Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GUncertain significance
LAMA2, LOC126859784
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GConflicting classifications of pathogenicity
LAMA2
(R2108Q)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+4 more
GUncertain significance
LAMA2
(E2796D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LAMA2
(L2509H +1 more)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+1 more
GUncertain significance
LAMA2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GConflicting classifications of pathogenicity
LAMA2
(V2964L +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+1 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
(E1637K)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
LAMA2
(H1337R)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
LAMA2-related muscular dystrophy
+2 more
GBenign/Likely benign
LAMA2
(A763V)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(synonymous variant)
LAMA2-related muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
LAMA2
(S521L)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GUncertain significance
LAMA2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LAMA2
(D978N)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+2 more
GConflicting classifications of pathogenicity
LAMA2
(D316N)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
LAMA2
(P2671T +1 more)
Single nucleotide variant
(missense variant)
Merosin deficient congenital muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
LAMA2
(A1897T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, congenital, merosin deficient or partially deficient
+3 more
GPathogenic
LAMA2
(S529N)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+2 more
GBenign/Likely benign
LAMA2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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