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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 19
GLikely pathogenic
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
TFAP2B
Single nucleotide variant
(intron variant)
Patent ductus arteriosus 2
+1 more
GPathogenic
MYBPC3
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
ATM
(Q268*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
PKP2
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular dysplasia 9
+4 more
GPathogenic
CYP2A6
(L160H)
Single nucleotide variant
(missense variant)
Warfarin response
+1 more
Gdrug response
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