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Links from Gene

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NT5E
Single nucleotide variant
(synonymous variant)
NT5E-related disorder
GLikely benign
NT5E
(N453Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(K136E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(R468I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(V277A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(R109L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(K486R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(Y249H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(M105V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(R7G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(M439L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(P416S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NT5E
(I398L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(H375N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
Copy number gain
not specified
GUncertain significance
NT5E
Single nucleotide variant
(synonymous variant)
NT5E-related disorder
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
NT5E-related disorder
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
NT5E-related disorder
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
NT5E-related disorder
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant +1 more)
NT5E-related disorder
GLikely benign
NT5E
(A322V)
Single nucleotide variant
(missense variant)
Hereditary arterial and articular multiple calcification syndrome
GUncertain significance
NT5E
(C426* +1 more)
Single nucleotide variant
(nonsense)
NT5E-related disorder
GLikely pathogenic
NT5E
(D422Y)
Single nucleotide variant
(missense variant +1 more)
NT5E-related disorder
GUncertain significance
NT5E
(T34A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(A260P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(G418E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NT5E
(N190T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(C504Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(R480L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(A151P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CEP162, CYB5R4
+18 more
Copy number loss
See cases
GPathogenic
NT5E
(V275L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(Q69H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CEP162, MRAP2
+3 more
Deletion
not provided
GUncertain significance
NT5E
(T407I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NT5E
(S396P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(S313N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(H437D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NT5E
(L12R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(R413Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(M58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NT5E
(R4G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(F449L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NT5E
(S155T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(L16R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(A280S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(N403S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(A10P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(T11A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NT5E
(W327R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKIRIN2, C6orf163
+15 more
Copy number gain
not provided
GUncertain significance
AKIRIN2, ANKRD6
+65 more
Copy number loss
See cases
GUncertain significance
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
BACH2, ADGRB3
+88 more
Copy number gain
not specified
GPathogenic
CEP162, CGA
+20 more
Copy number loss
not provided
GPathogenic
NT5E
(R413* +1 more)
Single nucleotide variant
(nonsense)
NT5E-related disorder
Gnot provided
NT5E
(E75*)
Single nucleotide variant
(nonsense)
NT5E-related disorder
Gnot provided
NT5E
(V424G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NT5E
(T376A)
Single nucleotide variant
(missense variant)
Hereditary arterial and articular multiple calcification syndrome
GBenign
NT5E
Single nucleotide variant
(intron variant)
Hereditary arterial and articular multiple calcification syndrome
GBenign
NT5E, SNHG5
+4 more
Copy number gain
Intellectual disability
GUncertain significance
CNR1, SLC35A1
+23 more
Copy number loss
not provided
GPathogenic
NT5E
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5E
(V278I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5E
(Q153E)
Single nucleotide variant
(missense variant)
not provided
GBenign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5E
(N403H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NT5E
(T480A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NT5E
(A26S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NT5E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NT5E, SNX14
Copy number loss
not provided
GUncertain significance
NT5E
Copy number loss
not provided
GLikely benign
AKIRIN2, ANKRD6
+56 more
Copy number gain
not provided
GPathogenic
AKIRIN2, ANKRD6
+44 more
Deletion
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
NT5E, SNHG5
+4 more
Copy number gain
See cases
GUncertain significance
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
C6orf163, CGA
+34 more
Copy number loss
See cases
GLikely pathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
NT5E
(V537fs +1 more)
Duplication
(frameshift variant)
NT5E-related disorder
+1 more
GLikely pathogenic
NT5E
(C358Y)
Single nucleotide variant
(missense variant)
Hereditary arterial and articular multiple calcification syndrome
GPathogenic
NT5E
(S221*)
Single nucleotide variant
(nonsense)
Hereditary arterial and articular multiple calcification syndrome
GPathogenic
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