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Links from MedGen

Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Microsatellite
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
ADCY10, CD247
+9 more
Duplication
Immunodeficiency 25
GUncertain significance
CD247
Duplication
Immunodeficiency 25
GUncertain significance
CD247
Deletion
Immunodeficiency 25
GPathogenic
CD247
(P163R +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(A61V +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
(R164K +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
(Y64C +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
(N69T +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
(R132H +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
(A121G +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(Q15L)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
(Q15H)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
(A9T)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R133K +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
+1 more
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GBenign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
(D84A +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(A59T +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R121H +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
(A10S)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(A9V)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R83K +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(G97R +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(S56I +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(D115N +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R110* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 25
GPathogenic
CD247
(V85I +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GBenign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GBenign
CD247
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GLikely benign
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GLikely benign
CD247
Duplication
Immunodeficiency 25
GUncertain significance
CD247
(D116G +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R132W +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(N107S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
+1 more
GUncertain significance
CD247
(R92W +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(D84Y +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(K103E +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
+1 more
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GUncertain significance
CD247
(F50L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
(R132Q +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(intron variant)
Immunodeficiency 25
GUncertain significance
CD247
Single nucleotide variant
(synonymous variant)
Immunodeficiency 25
GUncertain significance
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