Related gene-specific medical variations for Gene (Select 1557) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1340013	GRCh37/hg19 10q23.33(chr10:96497260-96558710)x1	CYP2C19	Copy number loss	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 638787	CYP2C1934/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram 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 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 634422	CYP2C195/34	CYP2C19, LOC110599570 (P3S +1 more)	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 634414	CYP2C1928/34	CYP2C19, LOC110599570 (I19L +3 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634408	CYP2C1922/34	CYP2C19, LOC110599570 (R186P +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634394	CYP2C191/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram 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 634333	CYP2C1918/34	CYP2C19, LOC110599570 (R329H +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634331	CYP2C1916/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634319	CYP2C199/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634308	CYP2C194B/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 634297	CYP2C1927/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634285	CYP2C192/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +3 more)	Sertraline response +3 more	Gdrug response
Select item 634283	CYP2C1919/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634279	CYP2C1917/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634275	CYP2C1915/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634266	CYP2C1912/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 634189	CYP2C197/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634182	CYP2C196/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634164	CYP2C194A/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634157	CYP2C1934/35	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 634156	CYP2C1932/34	CYP2C19, LOC110599570 (H99R +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634153	CYP2C1931/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634152	CYP2C1930/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634143	CYP2C1929/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634131	CYP2C1926/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634127	CYP2C1925/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634123	CYP2C1924/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 634118	CYP2C1923/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634080	CYP2C1914/34	CYP2C19, LOC110599570 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 634070	CYP2C1913/34	CYP2C19, LOC110599570 (R410C +2 more)	Single nucleotide variant (missense variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 634052	CYP2C1911/34	CYP2C19, LOC110599570 (R150H +2 more)	Single nucleotide variant (missense variant +1 more)	Citalopram response +3 more	Gdrug response
Select item 634046	CYP2C1910/34	CYP2C19, LOC110599570 (P227L +2 more)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +3 more	Gdrug response
Select item 633847	CYP2C19*34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +1 more)	CYP2C19: uncertain function	Gdrug response
Select item 226207	GRCh37/hg19 10q23.33(chr10:96497751-96560546)	CYP2C19	Copy number loss	Abnormal esophagus morphology	GBenign

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Links from Gene

Items: 51