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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAHD1, MEIOB
(M358fs)
Deletion
(frameshift variant +1 more)
Spermatogenic failure 22
+1 more
GPathogenic
MEIOB
Single nucleotide variant
(splice acceptor variant)
Premature ovarian failure 23
+1 more
GPathogenic
FAHD1, MEIOB
Single nucleotide variant
(synonymous variant +1 more)
Premature ovarian failure 23
GPathogenic
MEIOB
(R272*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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