U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(D464G)
Single nucleotide variant
(missense variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
GUncertain significance
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
(G229S)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
(A205E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+4 more
GUncertain significance
ENPP1
(V794I)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+6 more
GUncertain significance
ENPP1
Deletion
(splice donor variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
+5 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
ENPP1
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+5 more
GLikely benign
ENPP1
(H777R)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
ENPP1
Single nucleotide variant
(splice acceptor variant)
not provided
+5 more
GLikely pathogenic
ENPP1
(N746H)
Single nucleotide variant
(missense variant)
ENPP1-related condition
+6 more
GConflicting classifications of pathogenicity
ENPP1
Deletion
(intron variant)
Hypophosphatemic Rickets, Recessive
+5 more
GBenign
ENPP1
(V697M)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+4 more
GUncertain significance
ENPP1
(Y600H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
ENPP1
Deletion
(intron variant)
Obesity
+6 more
GBenign/Likely benign
ENPP1
(V878A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ENPP1
(C149S)
Single nucleotide variant
(missense variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
GPathogenic
ENPP1
(C164S)
Single nucleotide variant
(missense variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
GPathogenic
ENPP1
(C177Y)
Single nucleotide variant
(missense variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
GPathogenic
ENPP1
(K173Q)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets
+6 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination