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Links from Gene

Items: 1 to 100 of 240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENTPD1, ENTPD1-AS1
(Y149F +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ENTPD1, ENTPD1-AS1
(Y202fs +5 more)
Deletion
(frameshift variant)
ENTPD1-related disorder
GLikely pathogenic
ENTPD1, ENTPD1-AS1
(Q191R +4 more)
Single nucleotide variant
(missense variant)
ENTPD1-related disorder
GUncertain significance
ENTPD1-AS1, ENTPD1
(I355T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ENTPD1, ENTPD1-AS1
(E153fs +4 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 64
GLikely pathogenic
ENTPD1, ENTPD1-AS1
(V151M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(I506K +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(Q206R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCNJ, ENTPD1-AS1
(G5V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(P230T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(F1271L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1-AS1, CC2D2B
(Y266D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CC2D2B, LOC126861005
+1 more
(F322C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(T1158K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(T341M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
+1 more
(R293Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
+1 more
(R309P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
+1 more
(Q1339R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(Q254* +5 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 64
GPathogenic
ENTPD1, ENTPD1-AS1
(K269R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCNJ, ENTPD1-AS1
(G32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(S295L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(N239I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(I265T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(Q197K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(V1216A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(G16V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(I1179T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(I139V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(S156R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(A76T +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(I447T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(T161I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1-AS1, ENTPD1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
(K15E +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 64
GUncertain significance
ENTPD1, ENTPD1-AS1
(Y287* +4 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 64
GPathogenic
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GLikely benign
CCNJ, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
ENTPD1, ENTPD1-AS1
(W179* +4 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ENTPD1, ENTPD1-AS1
(Q328* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CC2D2B, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CC2D2B, ENTPD1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C10orf131, CC2D2B
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CC2D2B, ENTPD1-AS1
(M273L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(V1216I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(I224S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(C297F +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CC2D2B, ENTPD1-AS1
(P1229R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(L165P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(E52A +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CCNJ, ENTPD1-AS1
(A158G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(R270W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(R1101Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(Y1429C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(N1422S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(L328P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(A144E +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(E202K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCNJ, ENTPD1-AS1
(R229C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(F320L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(G108fs +4 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 64
GPathogenic
ENTPD1, ENTPD1-AS1
(L370* +5 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 64
GPathogenic
ENTPD1, ENTPD1-AS1
(Y49C +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CCNJ, ENTPD1-AS1
(R206H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C10orf131, CC2D2B
+1 more
(E137D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCNJ, ENTPD1-AS1
(Q257P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(Q276R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CC2D2B, ENTPD1-AS1
(G128A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(A243S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(K10T +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CC2D2B, ENTPD1-AS1
(S39P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(I109F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(G22C +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(G102R +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ENTPD1, ENTPD1-AS1
(V110I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCNJ, ENTPD1-AS1
(A232V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(H129R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CC2D2B, ENTPD1-AS1
(T170M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNJ, ENTPD1-AS1
(S335N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENTPD1, ENTPD1-AS1
(T111I +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 64
GUncertain significance
ENTPD1, ENTPD1-AS1
(I162V +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 64
GUncertain significance
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 64
GUncertain significance
ENTPD1, ENTPD1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 64
GLikely benign
ENTPD1, ENTPD1-AS1
(E32A +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 64
GUncertain significance
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