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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMC3IP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLX, PSMC3IP
(E126fs +3 more)
Deletion
(frameshift variant +2 more)
Ovarian dysgenesis 3
GPathogenic
PSMC3IP
Single nucleotide variant
(5 prime UTR variant +1 more)
Ovarian dysgenesis 3
GUncertain significance
NRXN1
(M54I)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
GUncertain significance
MLX, PSMC3IP
Microsatellite
(splice acceptor variant +1 more)
Ovarian dysgenesis 3
GPathogenic
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