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Items: 1 to 100 of 1176

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067034, LOC130067035
+535 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
AIFM3, BCR
+265 more
Copy number loss
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
BCR, C22orf15
+229 more
Copy number gain
See cases
GUncertain significance
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+222 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+227 more
Copy number loss
See cases
GPathogenic
DDTL, DERL3
+164 more
Duplication
Schizophrenia
GLikely pathogenic
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+160 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+160 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
DRICH1, FAM230I
+162 more
Copy number gain
See cases
GUncertain significance
IGLV3-22, IGLV3-25
+160 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+157 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+124 more
Copy number gain
See cases
GUncertain significance
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+84 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+81 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+81 more
Copy number gain
See cases
GLikely benign
ADORA2A, ADORA2A-AS1
+80 more
Copy number gain
See cases
GUncertain significance
LOC130067094, LOC130067095
+80 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+80 more
Copy number gain
See cases
GUncertain significance
DDT, C22orf15
+78 more
Duplication
Schizophrenia
GLikely pathogenic
LRRC75B, MIF
+78 more
Duplication
Schizophrenia
GLikely pathogenic
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+76 more
Copy number gain
See cases
GUncertain significance
LOC130067120, LOC130067121
+76 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+70 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+76 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
DERL3, LOC111721701
+3 more
Duplication
Intellectual disability, autosomal dominant 15
GUncertain significance
SMARCB1
Single nucleotide variant
not provided
GBenign
SMARCB1
Single nucleotide variant
not provided
GBenign
SMARCB1
Single nucleotide variant
not provided
GBenign
SMARCB1
Single nucleotide variant
not provided
GLikely benign
SMARCB1
Single nucleotide variant
not provided
GBenign
DERL3, SMARCB1
Duplication
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome
+2 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Rhabdoid tumor predisposition syndrome 1
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 1
+1 more
GBenign
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SMARCB1
Deletion
not provided
GPathogenic
SMARCB1
Deletion
not provided
GPathogenic
SMARCB1
Duplication
not provided
GUncertain significance
SMARCB1
Deletion
Rhabdoid tumor predisposition syndrome 1
GPathogenic
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
(M4del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
SMARCB1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SMARCB1
(M4del)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
SMARCB1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
SMARCB1
(M2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(M2R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(M2I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(M3K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
Indel
(missense variant)
not provided
GUncertain significance
SMARCB1
(M4fs)
Deletion
(frameshift variant)
Schwannomatosis 1
GLikely pathogenic
SMARCB1
(M4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(M4T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMARCB1
(A5S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(A5P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(A5V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCB1
(L6V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMARCB1
(S7I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
(S7N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMARCB1
(K8E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCB1
(K8R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCB1
(T9S)
Single nucleotide variant
(missense variant)
Rhabdoid tumor predisposition syndrome 1
GUncertain significance
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SMARCB1
(G11R)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GConflicting classifications of pathogenicity
SMARCB1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCB1
(Q12*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
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