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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+638 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
LOC116268457, LOC121468007
+321 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010165, LOC130010166
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130010213, LOC130010214
+261 more
Deletion
Factor VII deficiency
+1 more
GPathogenic
ADPRHL1, ANKRD10
+179 more
Copy number loss
See cases
GPathogenic
MCF2L, MCF2L-AS1
+158 more
Copy number gain
See cases
GLikely pathogenic
ADPRHL1, ARHGEF7
+149 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+143 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+141 more
Copy number gain
See cases
GPathogenic
GAS6, GAS6-AS1
+4 more
Copy number gain
See cases
GBenign/Likely benign
GAS6-AS1, GAS6
(P672L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(V648G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(A638T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GAS6, GAS6-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GAS6, GAS6-AS1
(G624S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R616Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
GAS6, GAS6-AS1
(E612K)
Single nucleotide variant
(missense variant)
not provided
GBenign
GAS6, GAS6-AS1
(V610M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(E598K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GAS6, GAS6-AS1
(V590A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(E589Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G584C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(S580L)
Single nucleotide variant
(missense variant)
not provided
GBenign
GAS6, GAS6-AS1
(E574K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G572D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(L564I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(K547T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(Y542C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R531H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS6, GAS6-AS1
(R531C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G500R)
Single nucleotide variant
(missense variant)
not provided
GBenign
GAS6, GAS6-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GAS6, GAS6-AS1
(V499I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS6, GAS6-AS1
(A486V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(S478A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R476K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS6, GAS6-AS1
(T474M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(S472L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(V462M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(L441P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GAS6, GAS6-AS1
(A406T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(V405M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(N390H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(N390D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R389Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(E385K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G371S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G365S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R360C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(I333V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS6, GAS6-AS1
(P316A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(V284M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
GAS6, GAS6-AS1
(T276I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(D275N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS6, GAS6-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GAS6, GAS6-AS1
(G266E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(R265L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(G264R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(D263E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS6, GAS6-AS1
(Q244P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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