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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
CYP2A6, LOC121627877
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CYP2A6, LOC121627877
(S474P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6, LOC121627877
(L462F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CYP2A6
(N418D)
Single nucleotide variant
(missense variant)
not provided
GBenign
CYP2A6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CYP2A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP2A6, LOC110673974
Duplication
Gestational diabetes mellitus uncontrolled
Gnot provided
CYP2A6
(D382E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(E358K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(G336S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(V327I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CYP2A6
(I300T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(M293T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP2A6
(Q276P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R274C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R265G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(K251N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(G243R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(S224P)
Single nucleotide variant
(missense variant)
Tegafur response
Gdrug response
CYP2A6
(T212M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R190L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYP2A6
(N180S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(L160H)
Single nucleotide variant
(missense variant)
Warfarin response
+1 more
Gdrug response
CYP2A6
(D158Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(F155C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R123H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6, CYP2A7
+1 more
Deletion
Warfarin response
+1 more
Gdrug response
CYP2A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP2A6
(Q94K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R88S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(R64C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYP2A6
(L7F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2A6
(M6L)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ACTMAP, AKT2
+84 more
Duplication
Diamond-Blackfan anemia
+3 more
GUncertain significance
CYP2A13, CYP2A6
+2 more
Copy number gain
not provided
GUncertain significance
B9D2, CYP2S1
+13 more
Copy number gain
not provided
GUncertain significance
ACP7, ACTMAP
+434 more
Copy number gain
not provided
GPathogenic
BICRA, BLOC1S3
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
CYP2A6, CYP2A7
Copy number gain
See cases
GBenign/Likely benign
CYP2A6, CYP2A7
Copy number gain
See cases
GLikely benign
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
CYP2A6
Variation
CYP2A6*3
+2 more
GPathogenic; drug response
CYP2A6
Deletion
Lung cancer, protection against
+1 more
Gprotective
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