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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(T10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
(R11C)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
LMNA, LOC129931597
(S22A)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA, LOC129931597
(R25G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
(R25L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(I26T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
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