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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(S22L)
Single nucleotide variant
(missense variant)
not provided
+14 more
GConflicting classifications of pathogenicity
LMNA
(L38H)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GUncertain significance
LMNA
(Y45H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+2 more
GConflicting classifications of pathogenicity
LMNA
(I63L)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+13 more
GConflicting classifications of pathogenicity
LMNA
(R249W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GPathogenic/Likely pathogenic
LMNA
(M464K +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
+1 more
GConflicting classifications of pathogenicity
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GConflicting classifications of pathogenicity
LMNA
(S553L +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+15 more
GConflicting classifications of pathogenicity
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