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Links from Gene

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EBNA1BP2
(A112V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(R262Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf210, C1orf50
+20 more
Deletion
not provided
GPathogenic
EBNA1BP2
(R151Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf210, C1orf50
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
C1orf210, CFAP144
+4 more
Copy number gain
not provided
GUncertain significance
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
EBNA1BP2
(D80H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(Q180H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(P98T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP144, CFAP57
+2 more
Duplication
GLUT1 deficiency syndrome 1, autosomal recessive
GUncertain significance
EBNA1BP2
(T182M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(L61V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(S207P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(P293S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EBNA1BP2
(A141T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP57, EBNA1BP2
(Y2C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBNA1BP2
(Q158P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
CDC20, CFAP144
+10 more
Deletion
not provided
GPathogenic
EBNA1BP2
(N345I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EBNA1BP2
(P131R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARTN, ATP6V0B
+24 more
Copy number loss
not provided
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+36 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
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