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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4, SLC26A4-AS1
(E29Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
PRKAG2
(R302Q +4 more)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+8 more
GPathogenic
NODAL
(G260R +1 more)
Single nucleotide variant
(missense variant)
Visceral heterotaxy
+4 more
GConflicting classifications of pathogenicity
MYH6
(A1004S)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
MYH7
(R243H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
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