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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SECISBP2
Single nucleotide variant
(splice donor variant)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
(E313fs +6 more)
Microsatellite
(frameshift variant)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
(K479* +7 more)
Single nucleotide variant
(nonsense)
Thyroid hormone metabolism, abnormal 1
GUncertain significance
SECISBP2
(S297L +7 more)
Single nucleotide variant
(missense variant)
Thyroid hormone metabolism, abnormal 1
GUncertain significance
SECISBP2
(R475* +7 more)
Single nucleotide variant
(nonsense)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
(R120* +2 more)
Single nucleotide variant
(nonsense +1 more)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
Single nucleotide variant
(splice donor variant)
Thyroid hormone metabolism, abnormal 1
GLikely pathogenic
SECISBP2
(S46C)
Single nucleotide variant
(missense variant +2 more)
Thyroid hormone metabolism, abnormal 1
GUncertain significance
SECISBP2
Duplication
(frameshift variant +1 more)
Thyroid hormone metabolism, abnormal 1
GPathogenic
TRU-TCA1-1
Single nucleotide variant
Thyroid hormone metabolism, abnormal, 3
+1 more
GPathogenic
SECISBP2
Single nucleotide variant
(intron variant)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
(K438* +7 more)
Single nucleotide variant
(nonsense)
Thyroid hormone metabolism, abnormal 1
GPathogenic
SECISBP2
(R540Q +7 more)
Single nucleotide variant
(missense variant)
Thyroid hormone metabolism, abnormal 1
GPathogenic
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