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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107075317, SIX5
(G365R)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 2
GPathogenic
LOC107075317, SIX5
(A296T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DM1-AS, LOC107075317
+1 more
(A158T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
Gother
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