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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ACSBG1, ADAMTS7
+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)
MIR184-related condition
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
ISLR2, MESD
+209 more
Copy number gain
not provided
GPathogenic
CHRNB4, CTSH
+19 more
Duplication
not provided
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
ALDH1A2, ALPK3
+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
AAGAB, ABHD17C
+523 more
Duplication
not provided
GPathogenic
ABHD17C, ABHD2
+154 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
GPR176, GRAMD2A
+568 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+446 more
Copy number gain
See cases
GPathogenic
SLC24A1, SLC28A1
+310 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+279 more
Copy number gain
See cases
GPathogenic
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