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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
DUT, DUT-AS1
+1 more
(I53T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DUT, DUT-AS1
+1 more
Single nucleotide variant
(intron variant)
not specified
GBenign
DUT
(P100S +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
High myopia
GUncertain significance
DUT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DUT
(G135A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUT
(Y142C +3 more)
Single nucleotide variant
(missense variant)
Bone marrow failure and diabetes mellitus syndrome
GPathogenic
DUT
(F117L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUT
(G103R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUT
(R105Q +3 more)
Single nucleotide variant
(missense variant)
Bone marrow failure and diabetes mellitus syndrome
GUncertain significance
DUT
(F158V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP152, CTXN2
+5 more
Deletion
not provided
GPathogenic
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
DUT, FBN1
Copy number gain
not specified
GUncertain significance
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
ADAM10, ALDH1A2
+81 more
Copy number gain
not provided
GPathogenic
DUT, FBN1
Copy number gain
not specified
GUncertain significance
CEP152, COPS2
+52 more
Copy number loss
not specified
GPathogenic
EID1, FAM227B
+15 more
Copy number loss
not specified
GPathogenic
BLOC1S6, C15orf48
+61 more
Copy number loss
not specified
GPathogenic
CTXN2, DUT
+4 more
Deletion
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
CTXN2, DUT
+4 more
Copy number loss
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
CTXN2, DUT
+4 more
Deletion
Marfan syndrome
+1 more
GPathogenic
ATP8B4, CEP152
+20 more
Copy number loss
not provided
GPathogenic
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
CTXN2, DUT
+5 more
Deletion
Marfan syndrome
GPathogenic
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAL, AFG2B
+107 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
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