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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ATOH8, C2orf68
+302 more
Copy number gain
See cases
GPathogenic
ATOH8, C2orf68
+179 more
Copy number loss
See cases
GPathogenic
CD8A, CD8B
+28 more
Copy number loss
See cases
GPathogenic
CD8A, CD8B
+14 more
Copy number gain
See cases
GBenign
CD8B
(Q190R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CD8B
(R173C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD8B
(A190T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD8B
(P170A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD8B
(E161G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(G127V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(G127R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(G120R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(V119I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD8B
(M117T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(S111R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(R98Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(A60T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD8B
(I45T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ATOH8, C2orf68
+35 more
Copy number loss
not specified
GPathogenic
ATOH8, C2orf68
+41 more
Copy number loss
not provided
GPathogenic
ATOH8, AUP1
+78 more
Copy number loss
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
SFTPB, SH2D6
+81 more
Copy number loss
See cases
GPathogenic
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