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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HHAT
(T122del +1 more)
Microsatellite
(inframe_deletion +1 more)
Chondrodysplasia-pseudohermaphroditism syndrome
GUncertain significance
HHAT
(L257P +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia-pseudohermaphroditism syndrome
GPathogenic
HHAT
(G287V +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia-pseudohermaphroditism syndrome
GPathogenic
HHAT
(G333R +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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