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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B4, LOC129994460
(G16S)
Single nucleotide variant
(missense variant +1 more)
HSD17B4-Related Disorders
+5 more
GConflicting classifications of pathogenicity
HSD17B4
(V82F +3 more)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome
Gnot provided
HSD17B4
(A100S +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GConflicting classifications of pathogenicity
HSD17B4
(Y217C +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HSD17B4
(Y428* +4 more)
Single nucleotide variant
(nonsense)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic
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