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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AR
(Q488*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
AR
(G177E +1 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
GPathogenic
AR
(W220S +1 more)
Single nucleotide variant
(missense variant)
Androgen resistance syndrome
GLikely pathogenic
AR
(R753* +1 more)
Single nucleotide variant
(nonsense)
Androgen resistance syndrome
+2 more
GPathogenic
AR
(Q271fs +1 more)
Duplication
(frameshift variant)
Androgen resistance syndrome
GPathogenic
H2AB3, H2BW1
+502 more
Copy number loss
Turner syndrome
GPathogenic
ABCB7, ABCD1
+822 more
Copy number loss
Turner syndrome
GPathogenic
SCML2, SEPTIN6
+822 more
Copy number gain
Hypotonia
+2 more
GPathogenic
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