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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRORP, PRORP-PSMA6
(T59fs)
Deletion
(non-coding transcript variant +2 more)
Combined oxidative phosphorylation deficiency 54
GUncertain significance
PRORP, PRORP-PSMA6
(Q217* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Combined oxidative phosphorylation deficiency 54
GUncertain significance
PRORP, PRORP-PSMA6
(Y270H +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 54
GUncertain significance
PRORP, PRORP-PSMA6
(A398V +3 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 54
GPathogenic/Likely pathogenic
PRORP, PRORP-PSMA6
(T292A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined oxidative phosphorylation deficiency 54
GPathogenic/Likely pathogenic
PRORP, PRORP-PSMA6
(R130Q +3 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 54
GUncertain significance
PRORP, PRORP-PSMA6
(A339D +3 more)
Single nucleotide variant
(missense variant)
PRORP-related disorder
GBenign
PRORP, PRORP-PSMA6
(N317S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRORP, PRORP-PSMA6
(S28fs +3 more)
Duplication
(frameshift variant)
Microcephaly
+9 more
GPathogenic/Likely pathogenic
PRORP, PRORP-PSMA6
(R445Q +3 more)
Single nucleotide variant
(missense variant)
Microcephaly
+9 more
GPathogenic/Likely pathogenic
PRORP, PRORP-PSMA6
(A485V +3 more)
Single nucleotide variant
(missense variant)
Perrault syndrome 1
+1 more
GPathogenic/Likely pathogenic
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