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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGV
(W2S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGV
(R45H)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
PIGV
(I117V)
Indel
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GConflicting classifications of pathogenicity
PIGV
(N205K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGV
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
PIGV
(T261fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GLikely pathogenic
PIGV
(Y285C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PIGV
(P426L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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