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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPS22
(T6A)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 7
GUncertain significance
MRPS22
(R135Q +2 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GUncertain significance
MRPS22
(R202H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MRPS22
(R170H +2 more)
Single nucleotide variant
(missense variant)
Hypotonia with lactic acidemia and hyperammonemia
+2 more
GPathogenic/Likely pathogenic
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