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Items: 1 to 100 of 1103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
LOC130062683, LOC130062684
+664 more
Copy number loss
See cases
GPathogenic
ALPK2, ATP8B1
+340 more
Copy number loss
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
ALPK2, ATP8B1
+177 more
Copy number loss
See cases
GPathogenic
LOC130062592, LOC130062593
+602 more
Copy number loss
See cases
GPathogenic
LOC130062765, LOC130062766
+572 more
Copy number loss
See cases
GPathogenic
LOC108281158, LOC110120868
+573 more
Copy number loss
See cases
GPathogenic
LOC130062566, LOC130062567
+87 more
Duplication
not provided
GUncertain significance
ATP8B1, ATP8B1-AS1
Deletion
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GLikely benign
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 1
GUncertain significance
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ATP8B1, ATP8B1-AS1
(R1247C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
(Y1195H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
(A1243T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP8B1-AS1, ATP8B1
(T1242S +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related disorder
+1 more
GConflicting classifications of pathogenicity
ATP8B1-AS1, ATP8B1
(G1191fs +1 more)
Deletion
(frameshift variant)
Progressive familial intrahepatic cholestasis type 1
GPathogenic
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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