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Items: 1 to 100 of 671

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105378448, LOC107195252
+245 more
Copy number loss
See cases
GPathogenic
ACSM6, CEP55
+105 more
Copy number loss
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
ACSM6, CYP2C18
+32 more
Copy number loss
See cases
GUncertain significance
ACSM6, CYP2C18
+45 more
Copy number gain
See cases
GUncertain significance
ACSM6, CYP2C18
+43 more
Copy number gain
See cases
GUncertain significance
CYP2C19
Single nucleotide variant
warfarin response - Dosage
Gdrug response
CYP2C18, CYP2C19
+2 more
Copy number loss
See cases
GBenign
CYP2C19, LOC110599570
+1 more
Copy number loss
Premature ovarian failure
GBenign
CYP2C19, LOC110599570
+1 more
Deletion
Normal pregnancy
Gnot provided
CYP2C19, LOC110599570
Copy number loss
See cases
GBenign
CYP2C19
Single nucleotide variant
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CYP2C19
Single nucleotide variant
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CYP2C19, LOC110599570
Single nucleotide variant
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CYP2C19, LOC110599570
Single nucleotide variant
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(H78Y)
Single nucleotide variant
(missense variant)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(S51G)
Single nucleotide variant
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(I19L)
Single nucleotide variant
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(L17P)
Single nucleotide variant
(missense variant)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(K28I)
Single nucleotide variant
(missense variant)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(D256N)
Single nucleotide variant
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(F448L)
Single nucleotide variant
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(R335Q)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(G91R)
Single nucleotide variant
(missense variant)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
(synonymous variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
(stop lost)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
CYP2C19: uncertain function
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
CYP2C19: increased function
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Clopidogrel response
+4 more
Gdrug response
CYP2C19, LOC110599570
(G91R)
Variation
(missense variant)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(L17P)
Variation
(missense variant)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
Variation
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(R335Q)
Variation
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(K28I)
Variation
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(F448L)
Variation
(missense variant)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(S51G)
Variation
(missense variant)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(I19L)
Variation
(missense variant)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Variation
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
(synonymous variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
Variation
CYP2C19: normal function
Gdrug response
CYP2C19, LOC110599570
Single nucleotide variant
(5 prime UTR variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +2 more)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+4 more
Gdrug response
CYP2C19, LOC110599570
(M1V)
Single nucleotide variant
(missense variant +1 more)
CYP2C19: no function
Gdrug response
CYP2C19
(M1V)
Single nucleotide variant
(missense variant +1 more)
CYP2C19: no function
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19
(P3S)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +2 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +3 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +2 more)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Sertraline response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +1 more)
Single nucleotide variant
(missense variant +2 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Citalopram response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Voriconazole response
+3 more
Gdrug response
CYP2C19, LOC110599570
(P3S +2 more)
Single nucleotide variant
(missense variant +1 more)
Escitalopram response
+3 more
Gdrug response
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