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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MILR1, POLG2
Single nucleotide variant
(intron variant)
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
+3 more
GBenign
MILR1, POLG2
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MILR1, POLG2
Duplication
(intron variant)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
+5 more
GBenign
MILR1, POLG2
(A169T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
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