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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
CCDC157, DUSP18
+54 more
Copy number gain
See cases
GUncertain significance
SEC14L2
(Q12E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEC14L2
(R43Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEC14L2
(R3Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(R63Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEC14L2
(N16D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEC14L2
(L76M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEC14L2
(H137R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SEC14L2
(I68V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(P112A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SEC14L2
(E179D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(P100H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(E130K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(P234S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(V183M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(G261R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(M270T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEC14L2
(M394I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASTOR1, CCDC157
+13 more
Copy number gain
not provided
GUncertain significance
AP1B1, ASCC2
+71 more
Duplication
not provided
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
NEFH, PIK3IP1
+42 more
Inversion
Anaplastic ependymoma
GLikely pathogenic
ADORA2A, AP1B1
+129 more
Copy number gain
not provided
GPathogenic
AP1B1, ASCC2
+32 more
Copy number loss
not provided
GPathogenic
DEPDC5, DRG1
+70 more
Copy number gain
See cases
GLikely pathogenic
ADORA2A, AP1B1
+131 more
Copy number gain
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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