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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGN
(I804K)
Indel
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PIGN
(M328fs)
Duplication
(frameshift variant)
Multiple congenital anomalies-hypotonia-seizures syndrome 1
+1 more
GPathogenic/Likely pathogenic
PIGN
(H263N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PIGN
(H188Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGN
Deletion
(splice donor variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
PIGN
(A56T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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