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Items: 1 to 100 of 702

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123775388, LOC123775389
+1449 more
Copy number gain
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
AKAP7, ARG1
+127 more
Copy number loss
See cases
GLikely pathogenic
AKAP7, ARG1
+87 more
Copy number loss
See cases
GLikely pathogenic
CCN2, CCN2-AS1
+14 more
Deletion
Arterial calcification, generalized, of infancy, 1
GPathogenic
ENPP1
Single nucleotide variant
not provided
GBenign
ENPP1
Single nucleotide variant
not provided
GLikely benign
ENPP1
Single nucleotide variant
not provided
GLikely benign
ENPP1
Single nucleotide variant
not provided
GLikely benign
ENPP1
Single nucleotide variant
ENPP1-related condition
+2 more
GLikely benign
ENPP1
Single nucleotide variant
(5 prime UTR variant)
ENPP1-related condition
+3 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ENPP1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ENPP1
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(D4N)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GUncertain significance
ENPP1
(G10fs)
Duplication
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GPathogenic
ENPP1
Single nucleotide variant
(synonymous variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
(G9D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ENPP1
(R12G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ENPP1
(A19T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(P20S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(R21W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(D30Y)
Single nucleotide variant
(missense variant)
ENPP1-related condition
+1 more
GUncertain significance
ENPP1
(R33H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(H35Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(P40T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(D42A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(A45E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(A46S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(L49M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(L50P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(P52S)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+2 more
GConflicting classifications of pathogenicity
ENPP1
(P52L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENPP1
(M53V)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
(A66fs)
Microsatellite
(frameshift variant)
Arterial calcification, generalized, of infancy, 1
+1 more
GPathogenic
ENPP1
(R65G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(A66fs)
Indel
(frameshift variant)
not specified
GBenign
ENPP1
(A66V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(R67G)
Single nucleotide variant
(missense variant)
ENPP1-related condition
+1 more
GUncertain significance
ENPP1
(R67H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(T68N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENPP1
(K70*)
Single nucleotide variant
(nonsense)
Arterial calcification, generalized, of infancy, 1
GPathogenic
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(P72S)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+1 more
GUncertain significance
ENPP1
(N73K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENPP1
(V77I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(S79L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GBenign
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(V84I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
(T89A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENPP1
(I94M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Deletion
(frameshift variant)
not provided
GPathogenic
ENPP1
(K98R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENPP1
(C101R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Duplication
(intron variant)
ENPP1-related condition
+6 more
GBenign/Likely benign
ENPP1
Insertion
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
Deletion
(intron variant)
not provided
GLikely benign
ENPP1
Microsatellite
(intron variant)
not provided
GUncertain significance
ENPP1
Insertion
(intron variant)
ENPP1-related condition
+1 more
GLikely benign
ENPP1
Microsatellite
(intron variant)
not provided
GBenign
ENPP1
Deletion
(intron variant)
not specified
GLikely benign
ENPP1
Insertion
(intron variant)
Hypophosphatemic Rickets, Recessive
+3 more
GConflicting classifications of pathogenicity
ENPP1
Insertion
(intron variant)
Hypophosphatemic Rickets, Recessive
+2 more
GConflicting classifications of pathogenicity
ENPP1
Microsatellite
(intron variant)
Arterial calcification, generalized, of infancy, 1
+2 more
GConflicting classifications of pathogenicity
ENPP1
Microsatellite
(intron variant)
Hypophosphatemic Rickets, Recessive
+3 more
GConflicting classifications of pathogenicity
ENPP1
Insertion
(intron variant)
Hypophosphatemic Rickets, Recessive
+2 more
GUncertain significance
ENPP1
Deletion
(intron variant)
not specified
GBenign
ENPP1
Microsatellite
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+2 more
GBenign
ENPP1
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Microsatellite
(intron variant)
Hypophosphatemic Rickets, Recessive
+3 more
GConflicting classifications of pathogenicity
ENPP1
Microsatellite
(intron variant)
Hypophosphatemic Rickets, Recessive
+2 more
GBenign
ENPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Deletion
(intron variant)
ENPP1-related condition
+1 more
GConflicting classifications of pathogenicity
ENPP1
Deletion
(intron variant)
not provided
GBenign
ENPP1
Deletion
(intron variant)
Obesity
+4 more
GBenign
ENPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+2 more
GConflicting classifications of pathogenicity
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GBenign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GBenign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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