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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGV
(A151V +1 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(G107V)
Single nucleotide variant
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(V116fs +2 more)
Deletion
(frameshift variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(S49*)
Single nucleotide variant
(nonsense +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
+2 more
GConflicting classifications of pathogenicity
PIGL
(F146L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PIGV
(H143R +1 more)
Single nucleotide variant
(intron variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GUncertain significance
PIGV
(Y81C)
Single nucleotide variant
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(G62S)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GBenign
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(F362L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(N118S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
(K196R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(synonymous variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(P89S)
Single nucleotide variant
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(A75T)
Single nucleotide variant
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(R203C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PIGV
(S31N +1 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GLikely benign
PIGO
(Q799H)
Single nucleotide variant
(missense variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GPathogenic
PIGV
(L243P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGB
(H407R)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(R19C)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GLikely pathogenic
PIGV
(R270H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PIGV
(V383M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
(E39K)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PIGV
(L457F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PIGV
(N205S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PIGV
Single nucleotide variant
(synonymous variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GConflicting classifications of pathogenicity
PIGV
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
PIGV
(N291S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GBenign
PIGV
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(T493A +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GUncertain significance
PIGV
Single nucleotide variant
(synonymous variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(F405I +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(I336M +2 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(G284D +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
(R270C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
Single nucleotide variant
(synonymous variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(I117V)
Single nucleotide variant
(missense variant +3 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PIGV
Single nucleotide variant
(synonymous variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
+3 more
GConflicting classifications of pathogenicity
PIGV
(P34L)
Single nucleotide variant
(missense variant +3 more)
not specified
+3 more
GBenign/Likely benign
PIGV
Single nucleotide variant
(intron variant)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GBenign
PIGV
Single nucleotide variant
(5 prime UTR variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GBenign
PIGV
(I117V)
Indel
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GConflicting classifications of pathogenicity
PIGV
(R45H)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
PIGG
(R669C +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 53
+2 more
GConflicting classifications of pathogenicity
PIGV
(P426L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 1
+1 more
GConflicting classifications of pathogenicity
PIGV
(A165E +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PIGV
(C156Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
PIGV
(A341V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GPathogenic
PIGV
(Q256K +1 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GPathogenic
PIGV
(H385P +2 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GPathogenic
PIGV
(A341E +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
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