U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1084

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+887 more
Copy number gain
See cases
GPathogenic
LOC125371434, LOC125371435
+879 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+664 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+664 more
Copy number loss
See cases
GPathogenic
LOC130062661, LOC130062662
+340 more
Copy number loss
See cases
GPathogenic
LOC130062755, LOC130062756
+644 more
Copy number loss
See cases
GPathogenic
LOC130062777, LOC130062778
+636 more
Copy number loss
See cases
GPathogenic
LOC130062712, LOC130062713
+636 more
Copy number gain
See cases
GPathogenic
ALPK2, ATP8B1
+177 more
Copy number loss
See cases
GPathogenic
LOC110121390, LOC111365201
+602 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+572 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+573 more
Copy number loss
See cases
GPathogenic
LOC130062577, LOC130062578
+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)
Progressive familial intrahepatic cholestasis type 1
GBenign
ATP8B1-AS1, ATP8B1
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
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
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
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
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-AS1, ATP8B1
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
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
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, ATP8B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 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-AS1, ATP8B1
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, ATP8B1-AS1
(T1242S +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+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)
ATP8B1-related condition
+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
Format
Items per page
Sort by
Choose Destination