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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXNRD2
(Q362fs +3 more)
Duplication
(frameshift variant +1 more)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
TXNRD2
Single nucleotide variant
(splice acceptor variant)
Glucocorticoid deficiency 5
+2 more
GUncertain significance
TXNRD2
(R345Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+2 more
GConflicting classifications of pathogenicity
TXNRD2
(R250W +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TXNRD2
(D344Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+3 more
GUncertain significance
TXNRD2
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
TXNRD2
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+3 more
GBenign/Likely benign
TXNRD2
(G255R +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+3 more
GBenign
TXNRD2
(R254C +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TXNRD2
(R249C +4 more)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+3 more
GUncertain significance
TXNRD2
Single nucleotide variant
(splice donor variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
TXNRD2
(I145V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TXNRD2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
TXNRD2
(A130V +4 more)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+1 more
GUncertain significance
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+3 more
GBenign/Likely benign
TXNRD2
(A27T +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
TXNRD2
(G47R +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
TXNRD2
(Q37L +3 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+4 more
GBenign
LOC130066960, TXNRD2
(V26G)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+3 more
GUncertain significance
TXNRD2, LOC130066960
(R16W)
Single nucleotide variant
(missense variant +1 more)
Glucocorticoid deficiency 5
+2 more
GUncertain significance
TXNRD2
(R14L)
Indel
(missense variant +1 more)
Glucocorticoid deficiency 5
+3 more
GUncertain significance
COMT, TXNRD2
(M1T)
Single nucleotide variant
(missense variant +3 more)
Cardiovascular phenotype
+2 more
GUncertain significance
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