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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
AP3B2, CPEB1
+19 more
Copy number loss
Diamond-Blackfan anemia 4
GPathogenic
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS17
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 4
+1 more
GLikely benign
RPS17
Single nucleotide variant
(intron variant)
not specified
GBenign
RPS17
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
RPS17
(G68fs)
Microsatellite
(frameshift variant +1 more)
Diamond-Blackfan anemia 4
GPathogenic
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
+1 more
GConflicting classifications of pathogenicity
RPS17
(Y53*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 4
GPathogenic
RPS17
Single nucleotide variant
(splice acceptor variant)
Diamond-Blackfan anemia 4
GLikely pathogenic
RPS17
(A51del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
RPS17
(K44Q)
Single nucleotide variant
(missense variant +1 more)
RPS17-related condition
GUncertain significance
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS17
(Y21fs)
Deletion
(frameshift variant +1 more)
Diamond-Blackfan anemia
GPathogenic
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS17
(R5L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPS17
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
RPS17
(M1R)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GPathogenic
RPS17
(M1V)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GPathogenic
RPS17
Single nucleotide variant
not specified
GBenign
LOC130057768, RPS17
Single nucleotide variant
not provided
GBenign
LOC130057768, RPS17
Single nucleotide variant
not provided
GLikely benign
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
RPS17
Copy number loss
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ABHD17C, AP3B2
+22 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, AP3B2
+12 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, AP3B2
+14 more
Copy number gain
not provided
GUncertain significance
ABHD17C, ADAMTS7
+49 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, AP3B2
+12 more
Copy number gain
See cases
GUncertain significance
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ABHD17C, AP3B2
+22 more
Copy number loss
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
FSD2, EFL1
+6 more
Copy number gain
See cases
GUncertain significance
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
RPS17
Deletion
Diamond-Blackfan anemia 4
GPathogenic
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