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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HYAL1
(E430D +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hyaluronoglucosaminidase
+2 more
GUncertain significance
HYAL1
(A426G +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hyaluronoglucosaminidase
GBenign
HYAL1
(T392M +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hyaluronoglucosaminidase
+1 more
GBenign
HYAL1
(G256R +1 more)
Single nucleotide variant
(missense variant +2 more)
Deficiency of hyaluronoglucosaminidase
+2 more
GBenign/Likely benign
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