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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
(D91N +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+2 more
GBenign/Likely benign
HPGD
Single nucleotide variant
(intron variant)
Isolated congenital digital clubbing
+2 more
GBenign/Likely benign
HPGD
(N95S)
Single nucleotide variant
(missense variant +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+2 more
GUncertain significance
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