ClinVar for Gene (Select 1557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079520	NM_000769.4(CYP2C19):c.910A>C (p.Thr304Pro)	CYP2C19 (T304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079519	NM_000769.4(CYP2C19):c.664A>G (p.Ile222Val)	CYP2C19 (I222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079518	NM_000769.4(CYP2C19):c.260T>A (p.Leu87Gln)	CYP2C19 (L87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079517	NM_000769.4(CYP2C19):c.1252A>G (p.Asn418Asp)	CYP2C19 (N418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079516	NM_000769.4(CYP2C19):c.1240G>C (p.Asp414His)	CYP2C19 (D414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079515	NM_000769.4(CYP2C19):c.1067A>C (p.Gln356Pro)	CYP2C19 (Q356P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063150	GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684614	GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	ACSM6, ALDH18A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640706	NM_000769.4(CYP2C19):c.1059C>T (p.His353=)	CYP2C19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618711	NM_000769.4(CYP2C19):c.1409C>T (p.Thr470Ile)	CYP2C19 (T470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591511	NM_000769.4(CYP2C19):c.614T>G (p.Ile205Ser)	CYP2C19 (I205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2531522	NM_000769.4(CYP2C19):c.244G>A (p.Val82Met)	CYP2C19 (V82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476783	NM_000769.4(CYP2C19):c.430C>A (p.Arg144Ser)	CYP2C19 (R144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472781	NM_000769.4(CYP2C19):c.392T>C (p.Leu131Pro)	CYP2C19 (L131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465938	NM_000769.4(CYP2C19):c.1094G>C (p.Ser365Thr)	CYP2C19 (S365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2315618	NM_000769.4(CYP2C19):c.595G>A (p.Glu199Lys)	CYP2C19 (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291107	NM_000769.4(CYP2C19):c.1085T>C (p.Ile362Thr)	CYP2C19 (I362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286220	NM_000769.4(CYP2C19):c.644T>C (p.Ile215Thr)	CYP2C19 (I215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283328	NM_000769.4(CYP2C19):c.1188T>A (p.His396Gln)	CYP2C19 (H396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808831	GRCh37/hg19 10q23.33-24.1(chr10:96155285-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1703261	NM_000769.4(CYP2C19):c.681G>T (p.Pro227=)	CYP2C19	Single nucleotide variant (synonymous variant)	Acute coronary syndrome	Gdrug response
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1341260	GRCh37/hg19 10q23.33-24.1(chr10:96136737-97224160)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340013	GRCh37/hg19 10q23.33(chr10:96497260-96558710)x1	CYP2C19	Copy number loss	not provided	GLikely benign
Select item 1276601	NM_000769.4(CYP2C19):c.1251A>C (p.Gly417=)	CYP2C19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 979283	GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3	CYP2C8, CYP2C18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 769226	NM_000769.4(CYP2C19):c.99C>T (p.Pro33=)	CYP2C19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747762	NM_000769.4(CYP2C19):c.1173C>A (p.Leu391=)	CYP2C19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689097	GRCh37/hg19 10q23.33(chr10:96501534-96548712)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 687213	GRCh37/hg19 10q23.33(chr10:96534277-96599102)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 686609	GRCh37/hg19 10q23.33(chr10:96502305-96562508)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 686499	GRCh37/hg19 10q23.33(chr10:96533912-96598380)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 686189	GRCh37/hg19 10q23.33(chr10:96562918-96606761)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 685065	GRCh37/hg19 10q23.33(chr10:96558287-96606761)x1	CYP2C19	Copy number loss	not provided	GUncertain significance
Select item 638805	CYP2C1923/23	CYP2C19 (G91R)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638804	CYP2C1931/31	CYP2C19 (H78Y)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638803	CYP2C1930/30	CYP2C19 (R73C)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638802	CYP2C1916/16	CYP2C19 (R442C)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638801	CYP2C1919/19	CYP2C19 (S51G)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638800	CYP2C1926/26	CYP2C19 (D256N)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638799	CYP2C1915/15	CYP2C19 (I19L)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638798	CYP2C1924/24	CYP2C19 (R335Q)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 638797	CYP2C192/2	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 638796	CYP2C1913/13	CYP2C19 (R410C)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638795	CYP2C1911/11	CYP2C19 (R150H)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638794	CYP2C1922/22	CYP2C19 (R186P)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638793	CYP2C1933/33	CYP2C19 (D188N)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638792	CYP2C1925/25	CYP2C19 (F448L)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638791	CYP2C1914/14	CYP2C19 (L17P)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638790	CYP2C194B/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Clopidogrel response +4 more	Gdrug response
Select item 638789	CYP2C1928/28	CYP2C19, LOC110599570 (I19L +1 more)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638788	CYP2C1932/32	CYP2C19 (H99R)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638787	CYP2C1934/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 638786	CYP2C1935/35	CYP2C19	Single nucleotide variant (intron variant)	Escitalopram response +3 more	Gdrug response
Select item 638785	CYP2C1918/18	CYP2C19 (R329H)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638784	CYP2C1929/29	CYP2C19 (K28I)	Single nucleotide variant (missense variant)	Escitalopram response +3 more	Gdrug response
Select item 638783	CYP2C1927/27	CYP2C19, LOC110599570	Single nucleotide variant	Voriconazole response +3 more	Gdrug response
Select item 638258	CYP2C195/5			Clopidogrel response +4 more	Gdrug response
Select item 638257	CYP2C197/7			Clopidogrel response +4 more	Gdrug response
Select item 638256	CYP2C196/6			Escitalopram response +4 more	Gdrug response
Select item 638255	CYP2C194A/4A			Escitalopram response +4 more	Gdrug response
Select item 638254	CYP2C198/8			Escitalopram response +4 more	Gdrug response
Select item 638253	CYP2C193/3			Voriconazole response +4 more	Gdrug response
Select item 638252	CYP2C199/9			Voriconazole response +3 more	Gdrug response
Select item 638251	CYP2C1917/17			Clopidogrel response +4 more	Gdrug response
Select item 638207	CYP2C191/1	CYP2C19, LOC110599570	Variation	Clopidogrel response +4 more	Gdrug response
Select item 638206	CYP2C1910/10	CYP2C19 (P227L)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 638205	CYP2C1912/12	CYP2C19	Single nucleotide variant (stop lost)	Voriconazole response +3 more	Gdrug response
Select item 634882	NM_000769.4(CYP2C19):c.-13G>A	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
Select item 634879	NM_000769.4(CYP2C19):c.-1439T>C	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
Select item 634877	NM_000769.4(CYP2C19):c.1120G>A (p.Val374Ile)	CYP2C19 (V374I)	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
Select item 634876	NM_000769.4(CYP2C19):c.-2020C>A	CYP2C19	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 634875	NM_000769.4(CYP2C19):c.10T>C (p.Phe4Leu)	CYP2C19 (F4L)	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
Select item 634865	NM_000769.4(CYP2C19):c.1197A>G (p.Lys399=)	CYP2C19	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 634864	NM_000769.4(CYP2C19):c.7C>T (p.Pro3Ser)	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
Select item 634861	NC_000010.11:g.94760676C>T	CYP2C19	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 634859	NM_000769.4(CYP2C19):c.1004G>A (p.Arg335Gln)	CYP2C19 (R335Q)	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
Select item 634427	CYP2C1917/28	CYP2C19, LOC110599570 (I19L +1 more)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634426	CYP2C199/14	CYP2C19 (L17P)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634425	CYP2C199/12	CYP2C19	Single nucleotide variant (stop lost)	Voriconazole response +3 more	Gdrug response
Select item 634424	CYP2C197/30	CYP2C19 (R73C)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634423	CYP2C197/29	CYP2C19 (K28I)	Single nucleotide variant (missense variant)	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 634421	CYP2C195/33	CYP2C19 (D188N)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634420	CYP2C194B/27	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634419	CYP2C194B/23	CYP2C19, LOC110599570 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634418	CYP2C1933/35	CYP2C19 (D188N)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634417	CYP2C1933/34	CYP2C19, LOC110599570 (D188N +2 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)	Voriconazole response +3 more	Gdrug response
Select item 634415	CYP2C193/33	CYP2C19 (D188N)	Single nucleotide variant (missense variant)	Voriconazole response +3 more	Gdrug response
Select item 634414	CYP2C1928/34	CYP2C19, LOC110599570 (I19L +3 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634413	CYP2C1928/33	CYP2C19, LOC110599570 (D188N +2 more)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response
Select item 634412	CYP2C1926/33	CYP2C19 (D188N +1 more)	Single nucleotide variant (missense variant)	Citalopram response +3 more	Gdrug response

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