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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTL9
(E401fs)
Deletion
(frameshift variant)
Spermatogenic failure 53
GUncertain significance
ACTL9
(Y403*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 53
GPathogenic
ACTL9
(V380L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 53
GPathogenic
ACTL9
(S345L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 53
GPathogenic
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