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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPL3
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 9
GLikely pathogenic
MRPL3
(Y265H)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 9
GUncertain significance
MRPL3
(S288P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPL3
(R17fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 9
GPathogenic
MRPL3
(C295S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 9
Gnot provided
MRPL3
(P317R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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