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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REPS1
(P506S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
REPS1
(P685S +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
REPS1
(D642N +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 7
+1 more
GConflicting classifications of pathogenicity
REPS1
(A113E)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
GPathogenic
REPS1
(V78L)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 7
GPathogenic
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