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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAGA
(M328T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NAGA
(E325K)
Single nucleotide variant
(missense variant)
Alpha-N-acetylgalactosaminidase deficiency
+5 more
GConflicting classifications of pathogenicity
NAGA
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
LOC126863160, NAGA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NAGA, LOC126863160
(R37H)
Single nucleotide variant
(missense variant)
Alpha-N-acetylgalactosaminidase deficiency type 1
+3 more
GUncertain significance
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