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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C19orf12
(T11M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodegeneration with brain iron accumulation 4
+2 more
GPathogenic/Likely pathogenic
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other