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Items: 1 to 100 of 5249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ACTB, AIMP2
+119 more
Copy number gain
See cases
GUncertain significance
LOC129997877, LOC129997878
+137 more
Copy number loss
See cases
GPathogenic
LINC03073, LOC106783574
+120 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+78 more
Copy number gain
See cases
GUncertain significance
ACTB, AIMP2
+63 more
Copy number loss
See cases
GPathogenic
ACTB, AIMP2
+71 more
Copy number loss
See cases
GLikely pathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
AIMP2, CCZ1
+14 more
Duplication
7p22.1 microduplication syndrome
GUncertain significance
CCZ1, LOC106783574
+2 more
Copy number gain
See cases
GLikely benign
AIMP2, CCZ1
+5 more
Copy number gain
See cases
GUncertain significance
PMS2
Deletion
Lynch syndrome
GPathogenic
PMS2
Deletion
Lynch syndrome
GPathogenic
PMS2
Deletion
Lynch syndrome
GPathogenic
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Lynch syndrome 4
GLikely benign
PMS2
Deletion
(splice acceptor variant +1 more)
not provided
GPathogenic
PMS2
Duplication
(3 prime UTR variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Lynch syndrome
GBenign
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
PMS2
Deletion
(frameshift variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
PMS2
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
PMS2
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
PMS2
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
PMS2
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
PMS2
Deletion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PMS2
Deletion
(splice acceptor variant)
not provided
GPathogenic
PMS2
Deletion
(splice acceptor variant)
Endometrial carcinoma
GPathogenic
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Deletion
(splice acceptor variant)
not provided
GPathogenic
PMS2
Deletion
(splice acceptor variant)
Endometrial carcinoma
GPathogenic
PMS2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(stop lost +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
Deletion
(stop lost +2 more)
not provided
GPathogenic
PMS2
Single nucleotide variant
(stop lost +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
Single nucleotide variant
(stop lost +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Single nucleotide variant
(stop lost +1 more)
Mismatch repair cancer syndrome 4
+3 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely benign
PMS2
(N862K +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(N671S +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(Q460R +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(Q460* +28 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GLikely benign
PMS2
(S669F +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(S549C +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(I548M +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(I548T +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(I620L +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(I859V +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PMS2
(G546A +28 more)
Indel
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GLikely benign
PMS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GLikely benign
PMS2
(V457A +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(V858I +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PMS2
(G722P +9 more)
Inversion
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(G857V +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(G857A +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
PMS2
(G695C +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(G546S +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(G857R +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(L455P +28 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS2
(L856R +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
PMS2
(L685M +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
PMS2
(N544S +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS2
(N855D +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GLikely benign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PMS2
(A543D +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(A543V +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(A854S +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(A854P +9 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 4
+3 more
GUncertain significance
PMS2
(A854T +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GBenign/Likely benign
PMS2
(I853M +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PMS2
(I747fs +9 more)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
PMS2
(I666V +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(H746fs +9 more)
Duplication
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(H717Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
PMS2
(H665Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely benign
PMS2
(H665fs +9 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
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