1548[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 782344	NM_000762.6(CYP2A6):c.1440T>C (p.Phe480=)	CYP2A6, LOC121627877	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308740	NM_000762.6(CYP2A6):c.1420T>C (p.Ser474Pro)	CYP2A6, LOC121627877 (S474P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079476	NM_000762.6(CYP2A6):c.1384C>T (p.Leu462Phe)	CYP2A6, LOC121627877 (L462F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780572	NM_000762.6(CYP2A6):c.1252A>G (p.Asn418Asp)	CYP2A6 (N418D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719052	NM_000762.6(CYP2A6):c.1239C>T (p.Pro413=)	CYP2A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2649913	NM_000762.6(CYP2A6):c.1209T>C (p.Ser403=)	CYP2A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157442	CM000681.1:g.41350895_41379148dup	CYP2A6, LOC110673974	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 2299738	NM_000762.6(CYP2A6):c.1146T>G (p.Asp382Glu)	CYP2A6 (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508379	NM_000762.6(CYP2A6):c.1072G>A (p.Glu358Lys)	CYP2A6 (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079475	NM_000762.6(CYP2A6):c.1006G>A (p.Gly336Ser)	CYP2A6 (G336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079480	NM_000762.6(CYP2A6):c.979G>A (p.Val327Ile)	CYP2A6 (V327I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079479	NM_000762.6(CYP2A6):c.899T>C (p.Ile300Thr)	CYP2A6 (I300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079478	NM_000762.6(CYP2A6):c.878T>C (p.Met293Thr)	CYP2A6 (M293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270550	NM_000762.6(CYP2A6):c.856T>A (p.Phe286Ile)	CYP2A6 (F286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724556	NM_000762.6(CYP2A6):c.837G>A (p.Glu279=)	CYP2A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482450	NM_000762.6(CYP2A6):c.827A>C (p.Gln276Pro)	CYP2A6 (Q276P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245110	NM_000762.6(CYP2A6):c.820C>T (p.Arg274Cys)	CYP2A6 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321318	NM_000762.6(CYP2A6):c.793C>G (p.Arg265Gly)	CYP2A6 (R265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589296	NM_000762.6(CYP2A6):c.753G>T (p.Lys251Asn)	CYP2A6 (K251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230460	NM_000762.6(CYP2A6):c.727G>A (p.Gly243Arg)	CYP2A6 (G243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270551	NM_000762.6(CYP2A6):c.703C>A (p.Gln235Lys)	CYP2A6 (Q235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16971	NM_000762.5(CYP2A6):c.670T>C (p.Ser224Pro)	CYP2A6 (S224P)	Single nucleotide variant (missense variant)	Tegafur response	Gdrug response
Select item 2380232	NM_000762.6(CYP2A6):c.635C>T (p.Thr212Met)	CYP2A6 (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739786	NM_000762.6(CYP2A6):c.569G>T (p.Arg190Leu)	CYP2A6 (R190L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2547233	NM_000762.6(CYP2A6):c.539A>G (p.Asn180Ser)	CYP2A6 (N180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16969	NM_000762.5(CYP2A6):c.479T>A (p.Leu160His)	CYP2A6 (L160H)	Single nucleotide variant (missense variant)	Warfarin response +1 more	Gdrug response
Select item 2558305	NM_000762.6(CYP2A6):c.472G>T (p.Asp158Tyr)	CYP2A6 (D158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287366	NM_000762.6(CYP2A6):c.464T>G (p.Phe155Cys)	CYP2A6 (F155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270549	NM_000762.6(CYP2A6):c.441G>C (p.Glu147Asp)	CYP2A6 (E147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613627	NM_000762.6(CYP2A6):c.368G>A (p.Arg123His)	CYP2A6 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16973	CYP2A6*12A	CYP2A6, CYP2A7 +1 more	Deletion	Warfarin response +1 more	Gdrug response
Select item 2649914	NM_000762.6(CYP2A6):c.312A>G (p.Gln104=)	CYP2A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528999	NM_000762.6(CYP2A6):c.280C>A (p.Gln94Lys)	CYP2A6 (Q94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079477	NM_000762.6(CYP2A6):c.264G>T (p.Arg88Ser)	CYP2A6 (R88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270548	NM_000762.6(CYP2A6):c.232G>A (p.Val78Ile)	CYP2A6 (V78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649915	NM_000762.6(CYP2A6):c.190C>T (p.Arg64Cys)	CYP2A6 (R64C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221170	NM_000762.6(CYP2A6):c.19C>T (p.Leu7Phe)	CYP2A6 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724431	NM_000762.6(CYP2A6):c.16A>C (p.Met6Leu)	CYP2A6 (M6L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1809178	GRCh37/hg19 19q13.2(chr19:41352689-41604171)x3	CYP2A13, CYP2A6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394914	GRCh37/hg19 19q13.2(chr19:41350886-41381485)x3	CYP2A6, CYP2A7	Copy number gain	See cases	GBenign/Likely benign
Select item 394148	GRCh37/hg19 19q13.2(chr19:41354177-41388178)x3	CYP2A6, CYP2A7	Copy number gain	See cases	GLikely benign
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 16972	CYP2A6*3	CYP2A6	Variation	CYP2A6*3 +2 more	GPathogenic; drug response
Select item 16970	CYP2A6*4A	CYP2A6	Deletion	Lung cancer, protection against +1 more	Gprotective

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Items: 52