ClinVar for Gene (Select 1555) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079503	NM_000767.5(CYP2B6):c.881C>T (p.Ser294Leu)	CYP2B6 (S294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079502	NM_000767.5(CYP2B6):c.619T>C (p.Ser207Pro)	CYP2B6 (S207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079501	NM_000767.5(CYP2B6):c.490C>T (p.Leu164Phe)	CYP2B6 (L164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079500	NM_000767.5(CYP2B6):c.461T>C (p.Ile154Thr)	CYP2B6 (I154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079499	NM_000767.5(CYP2B6):c.202G>A (p.Val68Ile)	CYP2B6 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079498	NM_000767.5(CYP2B6):c.1251T>A (p.Asn417Lys)	CYP2B6 (N417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079497	NM_000767.5(CYP2B6):c.1133G>A (p.Arg378Gln)	CYP2B6 (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079496	NM_000767.5(CYP2B6):c.1007G>C (p.Arg336Pro)	CYP2B6 (R336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079495	NM_000767.5(CYP2B6):c.1007G>A (p.Arg336His)	CYP2B6 (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3053232	NM_000767.5(CYP2B6):c.1335A>G (p.Glu445=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3052801	NM_000767.5(CYP2B6):c.1323C>T (p.Ile441=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3049313	NM_000767.5(CYP2B6):c.1152+9G>A	CYP2B6	Single nucleotide variant (intron variant)	CYP2B6-related disorder	GLikely benign
Select item 3048896	NM_000767.5(CYP2B6):c.54C>A (p.Leu18=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3048024	NM_000767.5(CYP2B6):c.795C>T (p.Ile265=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3045935	NM_000767.5(CYP2B6):c.1386C>T (p.Pro462=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3045634	NM_000767.5(CYP2B6):c.723C>A (p.Ile241=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3043157	NM_000767.5(CYP2B6):c.46T>C (p.Leu16=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3041988	NM_000767.5(CYP2B6):c.62A>T (p.Gln21Leu)	CYP2B6 (Q21L)	Single nucleotide variant (missense variant)	CYP2B6-related disorder	GLikely benign
Select item 3040512	NM_000767.5(CYP2B6):c.777C>T (p.Ser259=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3038056	NM_000767.5(CYP2B6):c.714G>A (p.Leu238=)	CYP2B6	Single nucleotide variant (synonymous variant)	CYP2B6-related disorder	GLikely benign
Select item 3033395	NM_000767.5(CYP2B6):c.415A>G (p.Lys139Glu)	CYP2B6 (K139E)	Single nucleotide variant (missense variant)	CYP2B6-related disorder	GLikely benign
Select item 3024890	NM_000767.5(CYP2B6):c.1153-6C>T	CYP2B6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649920	NM_000767.5(CYP2B6):c.1218C>T (p.Asp406=)	CYP2B6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649919	NM_000767.5(CYP2B6):c.777C>A (p.Ser259Arg)	CYP2B6 (S259R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649918	NM_000767.5(CYP2B6):c.419G>A (p.Arg140Gln)	CYP2B6 (R140Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623340	NM_000767.5(CYP2B6):c.313G>C (p.Asp105His)	CYP2B6 (D105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591909	NM_000767.5(CYP2B6):c.523A>G (p.Thr175Ala)	CYP2B6 (T175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589387	NM_000767.5(CYP2B6):c.304G>T (p.Ala102Ser)	CYP2B6 (A102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527009	NM_000767.5(CYP2B6):c.332A>G (p.Tyr111Cys)	CYP2B6 (Y111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513790	NM_000767.5(CYP2B6):c.1081G>A (p.Asp361Asn)	CYP2B6 (D361N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478235	NM_000767.5(CYP2B6):c.472C>T (p.Arg158Trp)	CYP2B6 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2410308	NM_000767.5(CYP2B6):c.1252G>T (p.Gly418Trp)	CYP2B6 (G418W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389414	NM_000767.5(CYP2B6):c.985G>A (p.Glu329Lys)	CYP2B6 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375701	NM_000767.5(CYP2B6):c.445G>A (p.Glu149Lys)	CYP2B6 (E149K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365434	NM_000767.5(CYP2B6):c.1472G>A (p.Arg491His)	CYP2B6 (R491H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333156	NM_000767.5(CYP2B6):c.789C>A (p.Asp263Glu)	CYP2B6 (D263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327826	NM_000767.5(CYP2B6):c.1043A>G (p.Tyr348Cys)	CYP2B6 (Y348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321922	NM_000767.5(CYP2B6):c.1159G>A (p.Glu387Lys)	CYP2B6 (E387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319998	NM_000767.5(CYP2B6):c.293G>A (p.Arg98Gln)	CYP2B6 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308388	NM_000767.5(CYP2B6):c.130C>G (p.Leu44Val)	CYP2B6 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303487	NM_000767.5(CYP2B6):c.1216G>A (p.Asp406Asn)	CYP2B6 (D406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276720	NM_000767.5(CYP2B6):c.1028G>C (p.Arg343Pro)	CYP2B6 (R343P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272191	NM_000767.5(CYP2B6):c.997G>A (p.Gly333Ser)	CYP2B6 (G333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259870	NM_000767.5(CYP2B6):c.483G>T (p.Lys161Asn)	CYP2B6 (K161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256130	NM_000767.5(CYP2B6):c.797A>T (p.Asp266Val)	CYP2B6 (D266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223076	NM_000767.5(CYP2B6):c.1022A>G (p.His341Arg)	CYP2B6 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222623	NM_000767.5(CYP2B6):c.1319G>T (p.Gly440Val)	CYP2B6 (G440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207371	NM_000767.5(CYP2B6):c.1414C>T (p.Pro472Ser)	CYP2B6 (P472S)	Single nucleotide variant (missense variant)	not specified	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 1301546	NM_000767.5(CYP2B6):c.86_87del (p.Arg29fs)	CYP2B6 (R29fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 1301545	NM_000767.5(CYP2B6):c.82_83insGC (p.Asp28fs)	CYP2B6 (D28fs)	Insertion (frameshift variant)	not specified	GBenign
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 395231	GRCh37/hg19 19q13.2(chr19:41450201-41512853)x1	CYP2B6	Copy number loss	See cases	GBenign
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 225985	NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr)	CYP2B6 (I328T)	Single nucleotide variant (missense variant)	nevirapine response - Toxicity	Gdrug response
Select item 145094	GRCh38/hg38 19q13.2(chr19:40942916-41005044)x1	CYP2B6, LOC110599575 +1 more	Copy number loss	See cases	GBenign
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 143912	NM_000767.5(CYP2B6):c.593T>C (p.Met198Thr)	CYP2B6 (M198T)	Single nucleotide variant (missense variant)	Efavirenz response	Gdrug response
Select item 143911	NM_000767.5(CYP2B6):c.1132C>T (p.Arg378Ter)	CYP2B6 (R378*)	Single nucleotide variant (nonsense)	Efavirenz response	Gdrug response
Select item 143910	NM_000767.5(CYP2B6):c.186T>A (p.Tyr62Ter)	CYP2B6 (Y62*)	Single nucleotide variant (nonsense)	Efavirenz response	Gdrug response
Select item 120175	NM_000767.5(CYP2B6):c.637T>C (p.Phe213Leu)	CYP2B6 (F213L)	Single nucleotide variant (missense variant)	Efavirenz response	Gdrug response
Select item 120174	NM_000767.5(CYP2B6):c.548T>G (p.Val183Gly)	CYP2B6 (V183G)	Single nucleotide variant (missense variant)	Efavirenz response	Gdrug response
Select item 120173	NM_000767.5(CYP2B6):c.341T>C (p.Ile114Thr)	CYP2B6 (I114T)	Single nucleotide variant (missense variant)	Efavirenz response	Gdrug response
Select item 120172	NM_000767.5(CYP2B6):c.329G>T (p.Gly110Val)	CYP2B6 (G110V)	Single nucleotide variant (missense variant)	Efavirenz response	Gdrug response
Select item 120171	NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)	CYP2B6 (K262R)	Single nucleotide variant (missense variant)	Efavirenz response +1 more	GBenign
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 29671	NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)	CYP2B6 (Q172H)	Single nucleotide variant (missense variant)	efavirenz response - Toxicity +2 more	Gdrug response

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Links from Gene

Items: 72