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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH4
(S754L)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
+2 more
GPathogenic/Likely pathogenic
PNLDC1
(G237D +1 more)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
+1 more
GLikely pathogenic
STAG3
(A590T +1 more)
Single nucleotide variant
(missense variant +1 more)
Non-obstructive azoospermia
+1 more
GUncertain significance
STAG3
(L594del +1 more)
Deletion
(inframe_deletion +1 more)
Premature ovarian insufficiency
+1 more
GLikely pathogenic
L3MBTL2
(E14K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Non-obstructive azoospermia
GPathogenic
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