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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBXT
(R40G)
Single nucleotide variant
(missense variant)
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
GUncertain significance
TBXT
(G156C)
Single nucleotide variant
(missense variant)
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
GUncertain significance
TBXT
(H171R)
Single nucleotide variant
(missense variant)
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
GPathogenic
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