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Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENPP1
(N731fs)
Deletion
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
(G10fs)
Duplication
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
(Q744*)
Single nucleotide variant
(nonsense)
Arterial calcification, generalized, of infancy, 1
+1 more
GPathogenic
ENPP1
(A66fs)
Microsatellite
(frameshift variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GPathogenic
ENPP1
Single nucleotide variant
(splice donor variant)
Hypophosphatemic rickets, autosomal recessive, 2
GPathogenic
ENPP1
(E192fs)
Deletion
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
(K171*)
Single nucleotide variant
(nonsense)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
Single nucleotide variant
(splice donor variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
Insertion
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
(G751E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ENPP1
(N199D)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
(Y451C)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GConflicting classifications of pathogenicity
ENPP1
(R782*)
Single nucleotide variant
(nonsense)
Obesity
+6 more
GPathogenic
ENPP1
Duplication
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+5 more
GBenign/Likely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
ENPP1
(I567V)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+5 more
GUncertain significance
ENPP1
(T209M)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
Deletion
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+4 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GLikely benign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
(N731Y)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+2 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
(G229S)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
(P72S)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
(M53V)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
Hypophosphatemic rickets, autosomal recessive, 2
+2 more
GConflicting classifications of pathogenicity
ENPP1
(A205E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
ENPP1
(P201S)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
(N179S)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+2 more
GConflicting classifications of pathogenicity
ENPP1
(D4N)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GLikely benign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GLikely benign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+4 more
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
Arterial calcification, generalized, of infancy, 1
+2 more
GConflicting classifications of pathogenicity
ENPP1
(V794I)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+6 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
(T148S)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Deletion
(splice donor variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
+5 more
GUncertain significance
ENPP1
(R821H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+5 more
GLikely benign
ENPP1
(S875F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
(H777R)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
ENPP1
(C108F)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GLikely pathogenic
ENPP1
(R481W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(splice acceptor variant)
not provided
+5 more
GLikely pathogenic
ENPP1
Deletion
(splice donor variant)
Hypophosphatemic rickets, autosomal recessive, 2
GPathogenic
ENPP1
(T779N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GBenign
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
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