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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPV17
Indel
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
GPathogenic
MPV17
(P98L)
Single nucleotide variant
(missense variant)
MPV17-Related Disorders
+4 more
GPathogenic
MPV17
(Q93P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
+1 more
GPathogenic/Likely pathogenic
MPV17
(R50Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
MPV17
(R41Q)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome
+3 more
GPathogenic/Likely pathogenic
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