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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGSF1
(E1195fs +2 more)
Duplication
(frameshift variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
(W977* +2 more)
Single nucleotide variant
(nonsense)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
(S863F +2 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
(L773P +2 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
(R748fs +2 more)
Duplication
(frameshift variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
(E745fs +2 more)
Deletion
(frameshift variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
IGSF1
Deletion
(inframe_deletion)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GPathogenic
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