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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH2
(V901I)
Single nucleotide variant
(missense variant)
Premature ovarian failure 2A
GUncertain significance
DIAPH2
(E529A)
Single nucleotide variant
(missense variant)
Premature ovarian failure 2A
GUncertain significance
DIAPH2
(A83T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DIAPH2
Translocation
Premature ovarian failure 2A
GPathogenic
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