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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPAN1, POMGNT1
Single nucleotide variant
(intron variant)
Limb-girdle muscular dystrophy
GUncertain significance
FKRP
(L202P)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GUncertain significance
HMGCR
(G769D +1 more)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GPathogenic
ATL1
(A354V)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GUncertain significance
CAPN3
(G221C)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
CAPN3
(M283V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+1 more
GUncertain significance
ANO5
(K131M +1 more)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
BVES
(R88*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(K22270E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIM32, ASTN2
(A231fs)
Deletion
(frameshift variant +1 more)
Limb-girdle muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
TRAPPC11
(R398*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+12 more
GConflicting classifications of pathogenicity
CAPN3
(E435K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FKRP
(L276I +2 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GLikely pathogenic
TTN, TTN-AS1
(Q34238* +5 more)
Single nucleotide variant
(nonsense)
TTN-related myopathy
+13 more
GConflicting classifications of pathogenicity
ANO5
(H841D +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V15750I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(C72W)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(G56S)
Single nucleotide variant
(missense variant)
not provided
+13 more
GBenign/Likely benign
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+18 more
GPathogenic/Likely pathogenic
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