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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCE
Single nucleotide variant
(intron variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GBenign/Likely benign
TBCE
(P72S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
TBCE
(K77T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCE
(V205A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TBCE
(E409G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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