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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAG3
(E1125* +2 more)
Single nucleotide variant
(nonsense +1 more)
Premature ovarian failure 8
GLikely pathogenic
STAG3
Indel
(non-coding transcript variant +1 more)
Premature ovarian failure 8
GLikely pathogenic
STAG3
(E1066fs +1 more)
Deletion
(frameshift variant +1 more)
Premature ovarian failure 8
GLikely pathogenic
STAG3
(Y592*)
Single nucleotide variant
(nonsense +1 more)
Premature ovarian failure 8
GPathogenic
STAG3
(N98fs)
Duplication
(frameshift variant)
Premature ovarian failure 8
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
(G818E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Premature ovarian failure 8
GUncertain significance
STAG3
(T36P)
Single nucleotide variant
(missense variant)
Premature ovarian failure 8
+2 more
GBenign
STAG3
(Q466fs +1 more)
Deletion
(frameshift variant)
Premature ovarian failure 8
GLikely pathogenic
STAG3
(R263H +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure 8
+2 more
GPathogenic/Likely pathogenic
STAG3
Single nucleotide variant
(intron variant)
Premature ovarian failure 8
GPathogenic
STAG3
(R926* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GLikely pathogenic
STAG3
(Y650fs +1 more)
Microsatellite
(frameshift variant +1 more)
Premature ovarian failure 8
GPathogenic
STAG3
(Q130fs +1 more)
Deletion
(frameshift variant)
Premature ovarian failure 8
GPathogenic
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