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Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
LOC129929998, LOC129929999
+293 more
Copy number loss
See cases
GPathogenic
A3GALT2, ADGRB2
+214 more
Copy number loss
See cases
GPathogenic
AK2
(S165fs +3 more)
Deletion
(frameshift variant +3 more)
Reticular dysgenesis
GPathogenic
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
AK2
Deletion
(stop lost +2 more)
Reticular dysgenesis
GUncertain significance
AK2
Microsatellite
(3 prime UTR variant +1 more)
not provided
GBenign
AK2
Single nucleotide variant
(3 prime UTR variant +1 more)
AK2-related condition
GLikely benign
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(I191fs +1 more)
Duplication
(frameshift variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
Duplication
(inframe_insertion +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(M237T +1 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(K185fs +1 more)
Indel
(frameshift variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(K233* +1 more)
Single nucleotide variant
(nonsense +2 more)
Reticular dysgenesis
GPathogenic
AK2
(L224V +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(A179T +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(V171fs +3 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
AK2
(V171M +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GUncertain significance
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GBenign
AK2
(S213Y +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(A164T +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GUncertain significance
AK2
(D211N +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(I162M +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
Single nucleotide variant
(synonymous variant +2 more)
AK2-related condition
+1 more
GLikely benign
AK2
(A201S +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(A209T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(S166A +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
AK2
(S160P +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(G157fs +3 more)
Deletion
(frameshift variant +2 more)
Reticular dysgenesis
GLikely pathogenic
AK2
Single nucleotide variant
(synonymous variant +2 more)
AK2-related condition
+1 more
GLikely benign
AK2
(G157E +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AK2
(R156Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(R156W +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(R154T +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
+2 more
GLikely benign
AK2
(Y153F +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AK2
(Y158* +3 more)
Duplication
(nonsense +2 more)
Reticular dysgenesis
GPathogenic
AK2
(Y152* +3 more)
Single nucleotide variant
(nonsense +2 more)
Severe combined immunodeficiency disease
GLikely pathogenic
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GBenign
AK2
Single nucleotide variant
(synonymous variant +2 more)
AK2-related condition
+1 more
GBenign/Likely benign
AK2
(T146A +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(T144N +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(H191D +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GBenign
AK2
(R138H +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(R186C +3 more)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency disease
GLikely pathogenic
AK2
(A182V +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(A182D +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GPathogenic/Likely pathogenic
AK2
(K133N +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GBenign
AK2
(D178N +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GUncertain significance
AK2
(D129G +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(R133P +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GLikely pathogenic
AK2
(R127G +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AK2
(R167fs +3 more)
Deletion
(frameshift variant +2 more)
Reticular dysgenesis
GPathogenic
AK2
(G121R +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(I119fs +3 more)
Insertion
(frameshift variant +2 more)
Severe combined immunodeficiency disease
GLikely pathogenic
AK2
(I119fs +3 more)
Insertion
(frameshift variant +2 more)
Severe combined immunodeficiency disease
GLikely pathogenic
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GBenign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(intron variant)
not provided
GBenign
AK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AK2
Single nucleotide variant
(intron variant)
not provided
GBenign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency disease
+1 more
GPathogenic
AK2
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(D165G +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GPathogenic
AK2
(M121T +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(P150S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AK2
(P126S)
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(N109K +4 more)
Single nucleotide variant
(missense variant +1 more)
Reticular dysgenesis
GUncertain significance
AK2
(N157S +3 more)
Single nucleotide variant
(missense variant +2 more)
AK2-related condition
+1 more
GUncertain significance
AK2
(V124I)
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(E155K +4 more)
Single nucleotide variant
(missense variant +1 more)
Reticular dysgenesis
GUncertain significance
AK2
(E106D +4 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(E106K +4 more)
Single nucleotide variant
(missense variant +1 more)
AK2-related condition
+2 more
GBenign/Likely benign
AK2
(H153D +4 more)
Single nucleotide variant
(missense variant +1 more)
Reticular dysgenesis
GUncertain significance
AK2
(L120I)
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(Y104fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
AK2
(R142H +3 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GUncertain significance
AK2
(Q115*)
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
(H97D +4 more)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
GUncertain significance
AK2
(I96M +4 more)
Single nucleotide variant
(missense variant +1 more)
Reticular dysgenesis
GUncertain significance
AK2
(D112H)
Single nucleotide variant
(synonymous variant +2 more)
Reticular dysgenesis
GLikely benign
AK2
Deletion
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Single nucleotide variant
(intron variant)
Reticular dysgenesis
GLikely benign
AK2
Microsatellite
(intron variant)
Reticular dysgenesis
GBenign
AK2
Single nucleotide variant
(intron variant)
not provided
GBenign
AK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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