U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
AADACL3, AADACL4
+304 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+337 more
Copy number loss
See cases
GPathogenic
LOC112577504, LOC112577505
+316 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+288 more
Copy number loss
See cases
GPathogenic
AADACL3, AGMAT
+151 more
Copy number loss
See cases
GPathogenic
LOC129929515, LOC129929516
+211 more
Copy number gain
See cases
GPathogenic
AGMAT, ARHGEF19
+112 more
Copy number loss
See cases
GLikely pathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
CELA2A
(P24S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(A35V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
Deletion
Normal pregnancy
Gnot provided
CELA2A
(K53Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CELA2A
(T70M)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 4
GPathogenic
CELA2A
(R79G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(V83M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(L85M)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 4
+4 more
GPathogenic
CELA2A
(A93V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(V102F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CELA2A
(V107M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(D121N)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 4
+4 more
GPathogenic
CELA2A
(N166Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(G167E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(R177Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(A190T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(V208M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(S211T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(N213S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
Single nucleotide variant
(splice donor variant)
Abdominal obesity-metabolic syndrome 4
+4 more
GPathogenic
CELA2A
(R228Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CELA2A
(G233S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CELA2A
(V251I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A, CELA2B
Deletion
Normal pregnancy
Gnot provided
CELA2A
(S264L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CELA2A
(I266T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
AGMAT, CASP9
+13 more
Copy number loss
not specified
GUncertain significance
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
AGMAT, CASP9
+8 more
Deletion
Hereditary pancreatitis
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+97 more
Copy number loss
See cases
GLikely pathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
Format
Items per page
Sort by
Choose Destination