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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ALG9, BCO2
+45 more
Copy number gain
See cases
GUncertain significance
CFAP68
(A20T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ALG9, C11orf52
+6 more
Deletion
ALG9 congenital disorder of glycosylation
GPathogenic
ALG9, BTG4
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
ALG9, BTG4
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
BCO2, ALG9
+24 more
Duplication
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
+1 more
GUncertain significance
ALG9, ANKK1
+50 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
FDXACB1, FUT4
+94 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ALG9, BTG4
+20 more
Duplication
Paragangliomas 1
+3 more
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
DIXDC1, ALG9
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
AASDHPPT, ACAT1
+68 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ACAT1
+76 more
Copy number loss
not provided
GPathogenic
ALG9, ANKK1
+45 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ALG9, CFAP68
+3 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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