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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 409	NC_000004.11:g.3076606GCA[40_?]	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	GPathogenic
Select item 812592	NC_000004.11:g.3076606GCA[27_35]	HTT	Microsatellite	Huntington disease	Gother
Select item 812591	NC_000004.11:g.3076606GCA[(?_26)]	HTT	Microsatellite	Huntington disease	GBenign
Select item 812582	NC_000004.11:g.3076606GCA[36_39]	HTT	Microsatellite	Huntington disease	Gother
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7110	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	CFTR (R347P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7168	NM_000492.4(CFTR):c.1766+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 38493	NM_000492.4(CFTR):c.2052del (p.Lys684fs)	CFTR (K684fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7224	NM_000492.4(CFTR):c.2988+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7137	NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	CFTR (R1162*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35868	NM_000492.4(CFTR):c.3528del (p.Lys1177fs)	CFTR (K1177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7166	NM_000492.3(CFTR):c.3718-2477C>T	CFTR, LOC113633877	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 638783	CYP2C1927/27	CYP2C19, LOC110599570	Single nucleotide variant	Voriconazole response +3 more	Gdrug response
Select item 634420	CYP2C194B/27	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634344	CYP2C197/27	CYP2C19, LOC110599570	Single nucleotide variant	Escitalopram response +3 more	Gdrug response
Select item 634339	CYP2C1927/31	CYP2C19, LOC110599570 (H78Y)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 634316	CYP2C198/27	CYP2C19, LOC110599570	Single nucleotide variant	Voriconazole response +3 more	Gdrug response
Select item 634305	CYP2C194A/27	CYP2C19, LOC110599570	Single nucleotide variant	Sertraline response +3 more	Gdrug response
Select item 634281	CYP2C1919/27	CYP2C19, LOC110599570 (S51G)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634277	CYP2C1917/27	CYP2C19, LOC110599570	Single nucleotide variant	Citalopram response +3 more	Gdrug response
Select item 634273	CYP2C1915/27	CYP2C19, LOC110599570 (I19L)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634271	CYP2C1914/27	CYP2C19, LOC110599570 (L17P)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634197	CYP2C199/27	CYP2C19, LOC110599570	Single nucleotide variant	Citalopram response +3 more	Gdrug response
Select item 634179	CYP2C196/27	CYP2C19, LOC110599570	Single nucleotide variant	Escitalopram response +3 more	Gdrug response
Select item 634172	CYP2C195/27	CYP2C19, LOC110599570	Single nucleotide variant	Citalopram response +3 more	Gdrug response
Select item 634145	CYP2C193/27	CYP2C19, LOC110599570	Single nucleotide variant	Voriconazole response +3 more	Gdrug response
Select item 634133	CYP2C1927/29	CYP2C19, LOC110599570 (K28I)	Single nucleotide variant (missense variant)	Sertraline response +3 more	Gdrug response
Select item 634128	CYP2C1926/27	CYP2C19, LOC110599570 (D256N)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634124	CYP2C1925/27	CYP2C19, LOC110599570 (F448L)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634120	CYP2C1924/27	CYP2C19, LOC110599570 (R335Q)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634113	CYP2C1923/27	CYP2C19, LOC110599570 (G91R)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634102	CYP2C192/27	CYP2C19, LOC110599570	Single nucleotide variant (synonymous variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634059	CYP2C1912/27	CYP2C19, LOC110599570	Single nucleotide variant (stop lost)	Voriconazole response +3 more	Gdrug response
Select item 634035	CYP2C191/27	CYP2C19, LOC110599570	Single nucleotide variant	Escitalopram response +3 more	Gdrug response
Select item 633851	CYP2C19*27	CYP2C19, LOC110599570	Single nucleotide variant	CYP2C19: uncertain function	Gdrug response
Select item 39357	NM_000769.1(CYP2C19):c.-806C>T	CYP2C19, LOC110599570	Single nucleotide variant	CYP2C19: increased function	Gdrug response
Select item 638207	CYP2C191/1	CYP2C19, LOC110599570	Variation	Clopidogrel response +4 more	Gdrug response
Select item 634351	CYP2C191/8	CYP2C19, LOC110599570	Variation	Sertraline response +4 more	Gdrug response
Select item 634350	CYP2C191/7	CYP2C19, LOC110599570	Variation	Escitalopram response +4 more	Gdrug response
Select item 634256	CYP2C191/23	CYP2C19, LOC110599570 (G91R)	Variation (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634255	CYP2C191/14	CYP2C19, LOC110599570 (L17P)	Variation (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634222	CYP2C191/9	CYP2C19, LOC110599570	Variation	Citalopram response +3 more	Gdrug response
Select item 634208	CYP2C191/24	CYP2C19, LOC110599570 (R335Q)	Variation (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634037	CYP2C191/29	CYP2C19, LOC110599570 (K28I)	Variation (missense variant)	Citalopram response +3 more	Gdrug response
Select item 633936	CYP2C191/25	CYP2C19, LOC110599570 (F448L)	Variation (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 633934	CYP2C191/19	CYP2C19, LOC110599570 (S51G)	Variation (missense variant)	Citalopram response +3 more	Gdrug response
Select item 633882	CYP2C191/15	CYP2C19, LOC110599570 (I19L)	Variation (missense variant)	Citalopram response +3 more	Gdrug response
Select item 633878	CYP2C191/17	CYP2C19, LOC110599570	Variation	Escitalopram response +4 more	Gdrug response
Select item 633863	CYP2C191/6	CYP2C19, LOC110599570	Variation	Clopidogrel response +4 more	Gdrug response
Select item 633862	CYP2C191/5	CYP2C19, LOC110599570	Variation	Clopidogrel response +4 more	Gdrug response
Select item 633861	CYP2C191/4B	CYP2C19, LOC110599570 (M1V)	Variation (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 633859	CYP2C191/4A	CYP2C19, LOC110599570	Variation	Voriconazole response +4 more	Gdrug response
Select item 633858	CYP2C191/3	CYP2C19, LOC110599570	Variation	Voriconazole response +4 more	Gdrug response
Select item 633857	CYP2C191/2	CYP2C19, LOC110599570	Variation (synonymous variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 633855	CYP2C19*1	CYP2C19, LOC110599570	Variation	CYP2C19: normal function	Gdrug response
Select item 638790	CYP2C194B/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 634419	CYP2C194B/23	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634342	CYP2C194B/14	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634251	CYP2C194B/7	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 634216	CYP2C194B/17	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Clopidogrel response +4 more	Gdrug response
Select item 634215	CYP2C194B/15	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634166	CYP2C194B/29	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634023	CYP2C194B/8	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Clopidogrel response +4 more	Gdrug response
Select item 634021	CYP2C194B/24	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 634015	CYP2C193/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Citalopram response +4 more	Gdrug response
Select item 633989	CYP2C194B/9	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 633987	CYP2C194B/25	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 633986	CYP2C194B/19	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 633877	CYP2C194B/6	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +4 more	Gdrug response
Select item 633876	CYP2C194B/5	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +4 more	Gdrug response
Select item 633871	CYP2C194A/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 633860	CYP2C19*4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	CYP2C19: no function	Gdrug response
Select item 16900	NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)	CYP2C19 (M1V)	Single nucleotide variant (missense variant +1 more)	CYP2C19: no function	Gdrug response
Select item 638787	CYP2C1934/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634422	CYP2C195/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634416	CYP2C193/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634394	CYP2C191/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634345	CYP2C198/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634331	CYP2C1916/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634319	CYP2C199/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634308	CYP2C194B/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634297	CYP2C1927/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634285	CYP2C192/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +3 more)	Escitalopram response +3 more	Gdrug response
Select item 634283	CYP2C1919/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634279	CYP2C1917/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response

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