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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAG3
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 61
GPathogenic
STAG3
(A588fs +1 more)
Duplication
(frameshift variant +1 more)
Spermatogenic failure 61
GPathogenic
STAG3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
STAG3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
STAG3
(L16F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
STAG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
STAG3
Single nucleotide variant
(intron variant)
Spermatogenic failure 61
+2 more
GBenign
STAG3
(T36P)
Single nucleotide variant
(missense variant)
Premature ovarian failure 8
+2 more
GBenign
STAG3
(R263H +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure 8
+2 more
GPathogenic/Likely pathogenic
STAG3
(R438* +1 more)
Single nucleotide variant
(nonsense)
Spermatogenesis maturation arrest
+1 more
GLikely pathogenic
STAG3
(L421R +1 more)
Single nucleotide variant
(missense variant)
Spermatogenesis maturation arrest
+1 more
GLikely pathogenic
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