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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(R231W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+20 more
GConflicting classifications of pathogenicity
LMNA
(R545C +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+9 more
GConflicting classifications of pathogenicity
DSP
(R1497Q)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
+9 more
GConflicting classifications of pathogenicity
LAMA4
(I1241V +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(Q1522H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+6 more
GUncertain significance
FLNC-AS1, FLNC
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+9 more
GBenign/Likely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Tetralogy of Fallot
+7 more
GConflicting classifications of pathogenicity
PKP2
(R490W)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 3B
+9 more
GConflicting classifications of pathogenicity
TMPO
(G249A)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+2 more
GUncertain significance
TMPO
(P426L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1T
+6 more
GConflicting classifications of pathogenicity
FKRP
(S43C)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
TXNRD2
(R286S +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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