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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXNRD2
(S444C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
TXNRD2
(R441Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TXNRD2
(R441* +3 more)
Single nucleotide variant
(nonsense +1 more)
Glucocorticoid deficiency 5
+1 more
GConflicting classifications of pathogenicity
TXNRD2
(S299N +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
(R191Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
(Y113H +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
TXNRD2
(R79Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+3 more
GUncertain significance
TXNRD2
(R79L +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Single nucleotide variant
(synonymous variant +1 more)
Primary familial hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
COMT, TXNRD2
(A5V)
Single nucleotide variant
(missense variant +2 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
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