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Items: 93

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, ASPHD2
+122 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+89 more
Copy number loss
See cases
GPathogenic
AP1B1, C22orf31
+34 more
Copy number loss
See cases
GPathogenic
EWSR1
Single nucleotide variant
(5 prime UTR variant)
EWSR1-related disorder
GLikely benign
EWSR1
Single nucleotide variant
(synonymous variant)
EWSR1-related disorder
GLikely benign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EWSR1
(S19G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
(P47H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(T68A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EWSR1
(G78R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EWSR1
(P80T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EWSR1
(A82T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(Q97P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(T134A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP1B1, ASCC2
+28 more
Copy number gain
See cases
GUncertain significance
EWSR1
(T146I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EWSR1
(S171T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
Ewing sarcoma
+1 more
GBenign
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EWSR1
(S245G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(synonymous variant)
EWSR1-related disorder
GBenign
EWSR1
(F307Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(G328A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(M345V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
(N365D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(S361N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(S370N +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
EWSR1
(T317N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Deletion
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
(S360F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EWSR1
(G409S +3 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+1 more
GConflicting classifications of pathogenicity
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
EWSR1
Microsatellite
(intron variant)
EWSR1-related disorder
GLikely benign
EWSR1
(R506Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EWSR1
(P559L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(G513A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(R580C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EWSR1
(M592L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(G594V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(D539N +3 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
EWSR1
(G600S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EWSR1
(R576G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(G578R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
(R580C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EWSR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP1B1, EMID1
+10 more
Deletion
Neurofibromatosis, type 2
GPathogenic
AP1B1, C22orf31
+17 more
Deletion
Neurofibromatosis, type 2
GPathogenic
AP1B1, ASPHD2
+25 more
Copy number loss
not provided
GPathogenic
AP1B1, ASCC2
+71 more
Duplication
not provided
GUncertain significance
AP1B1, ASCC2
+22 more
Deletion
Familial cancer of breast
GPathogenic
AP1B1, ASCC2
+22 more
Deletion
Neurofibromatosis, type 2
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+24 more
Copy number loss
not provided
GPathogenic
AP1B1, C22orf31
+17 more
Deletion
Familial cancer of breast
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
ERG, EWSR1
Translocation
Neurofibromatosis, type 1
+1 more
GPathogenic
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