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Items: 29

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
LOC130057730, LOC132090332
+175 more
Copy number loss
See cases
GPathogenic
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GLikely benign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
Developmental cataract
+1 more
GUncertain significance
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
EDICT syndrome
GPathogenic
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
MIR184, ANKRD34C-AS1
Single nucleotide variant
not provided
GBenign
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ABHD17C, ADAMTS7
+19 more
Duplication
not provided
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ANKRD34C, MINAR1
+3 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
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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