CYP2A7[gene] - ClinVar

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Items: 79

	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 16973	CYP2A6*12A	CYP2A6, CYP2A7 +1 more	Deletion	Warfarin response +1 more	Gdrug response
Select item 217890	NC_000019.9:g.41360272_41392154del31883	LOC110673974, CYP2A7	Deletion	APC-mutation negative familial colorectal cancer	GLikely pathogenic
Select item 2412358	NM_000764.3(CYP2A7):c.1480C>T (p.Arg494Cys)	CYP2A7 (R443C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079484	NM_000764.3(CYP2A7):c.1472T>G (p.Phe491Cys)	CYP2A7 (F440C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271346	NM_000764.3(CYP2A7):c.1471T>C (p.Phe491Leu)	CYP2A7 (F440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079483	NM_000764.3(CYP2A7):c.1466T>G (p.Met489Arg)	CYP2A7 (M438R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212602	NM_000764.3(CYP2A7):c.1465A>G (p.Met489Val)	CYP2A7 (M489V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768994	NM_000764.3(CYP2A7):c.1436T>G (p.Val479Gly)	CYP2A7 (V428G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308741	NM_000764.3(CYP2A7):c.1420T>C (p.Ser474Pro)	CYP2A7 (S423P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649916	NM_000764.3(CYP2A7):c.1366G>A (p.Val456Ile)	CYP2A7 (V405I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2458640	NM_000764.3(CYP2A7):c.1321G>A (p.Gly441Arg)	CYP2A7 (G390R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769974	NM_000764.3(CYP2A7):c.1312A>T (p.Asn438Tyr)	CYP2A7 (N387Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2389356	NM_000764.3(CYP2A7):c.1257C>G (p.Asp419Glu)	CYP2A7 (D368E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399760	NM_000764.3(CYP2A7):c.1252G>A (p.Asp418Asn)	CYP2A7 (D418N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649917	NM_000764.3(CYP2A7):c.1192G>A (p.Val398Met)	CYP2A7 (V347M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770658	NM_000764.3(CYP2A7):c.1191C>T (p.Ser397=)	CYP2A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270561	NM_000764.3(CYP2A7):c.1157C>T (p.Pro386Leu)	CYP2A7 (P335L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768995	NM_000764.3(CYP2A7):c.1115G>A (p.Arg372His)	CYP2A7 (R321H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3270564	NM_000764.3(CYP2A7):c.1096A>T (p.Ile366Phe)	CYP2A7 (I315F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079482	NM_000764.3(CYP2A7):c.1085T>C (p.Phe362Ser)	CYP2A7 (F311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270560	NM_000764.3(CYP2A7):c.1071C>A (p.His357Gln)	CYP2A7 (H357Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341694	NM_000764.3(CYP2A7):c.1028T>G (p.Phe343Cys)	CYP2A7 (F292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079481	NM_000764.3(CYP2A7):c.1016G>A (p.Arg339Gln)	CYP2A7 (R288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218920	NM_000764.3(CYP2A7):c.1016G>C (p.Arg339Pro)	CYP2A7 (R288P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270555	NM_000764.3(CYP2A7):c.1015C>T (p.Arg339Trp)	CYP2A7 (R288W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383252	NM_000764.3(CYP2A7):c.1006G>A (p.Gly336Ser)	CYP2A7 (G336S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079494	NM_000764.3(CYP2A7):c.922A>G (p.Thr308Ala)	CYP2A7 (T257A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372153	NM_000764.3(CYP2A7):c.910G>A (p.Glu304Lys)	CYP2A7 (E304K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589597	NM_000764.3(CYP2A7):c.884C>T (p.Thr295Met)	CYP2A7 (T295M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270563	NM_000764.3(CYP2A7):c.875T>C (p.Met292Thr)	CYP2A7 (M241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270559	NM_000764.3(CYP2A7):c.826C>A (p.Gln276Lys)	CYP2A7 (Q225K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079493	NM_000764.3(CYP2A7):c.796G>C (p.Asp266His)	CYP2A7 (D215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769456	NM_000764.3(CYP2A7):c.794A>G (p.Gln265Arg)	CYP2A7 (Q214R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3079492	NM_000764.3(CYP2A7):c.770G>A (p.Arg257His)	CYP2A7 (R257H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079491	NM_000764.3(CYP2A7):c.727G>T (p.Gly243Trp)	CYP2A7 (G192W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599990	NM_000764.3(CYP2A7):c.698C>A (p.Pro233Gln)	CYP2A7 (P182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270553	NM_000764.3(CYP2A7):c.655C>A (p.Leu219Ile)	CYP2A7 (L168I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270557	NM_000764.3(CYP2A7):c.647C>G (p.Thr216Arg)	CYP2A7 (T216R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491547	NM_000764.3(CYP2A7):c.630G>T (p.Gln210His)	CYP2A7 (Q159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615558	NM_000764.3(CYP2A7):c.593T>G (p.Phe198Cys)	CYP2A7 (F198C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270556	NM_000764.3(CYP2A7):c.556G>T (p.Val186Phe)	CYP2A7 (V186F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276241	NM_000764.3(CYP2A7):c.548G>T (p.Ser183Ile)	CYP2A7 (S132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210956	NM_000764.3(CYP2A7):c.527G>A (p.Arg176His)	CYP2A7 (R125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079489	NM_000764.3(CYP2A7):c.486C>G (p.Ser162Arg)	CYP2A7 (S162R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397907	NM_000764.3(CYP2A7):c.478A>C (p.Ile160Leu)	CYP2A7 (I109L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397905	NM_000764.3(CYP2A7):c.474G>C (p.Glu158Asp)	CYP2A7 (E107D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768996	NM_000764.3(CYP2A7):c.457T>G (p.Ser153Ala)	CYP2A7 (S153A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2359688	NM_000764.3(CYP2A7):c.443G>A (p.Arg148His)	CYP2A7 (R97H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270554	NM_000764.3(CYP2A7):c.436G>A (p.Glu146Lys)	CYP2A7 (E146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079488	NM_000764.3(CYP2A7):c.403C>A (p.Leu135Met)	CYP2A7 (L135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558989	NM_000764.3(CYP2A7):c.401C>T (p.Thr134Ile)	CYP2A7 (T83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768997	NM_000764.3(CYP2A7):c.397G>C (p.Ala133Pro)	CYP2A7 (A133P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3270565	NM_000764.3(CYP2A7):c.377A>T (p.Gln126Leu)	CYP2A7 (Q126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371343	NM_000764.3(CYP2A7):c.361G>C (p.Gly121Arg)	CYP2A7 (G121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519783	NM_000764.3(CYP2A7):c.298G>A (p.Gly100Arg)	CYP2A7 (G100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079486	NM_000764.3(CYP2A7):c.238G>A (p.Val80Met)	CYP2A7 (V80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345087	NM_000764.3(CYP2A7):c.227G>A (p.Arg76Gln)	CYP2A7 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358328	NM_000764.3(CYP2A7):c.206T>C (p.Phe69Ser)	CYP2A7 (F69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258132	NM_000764.3(CYP2A7):c.131G>A (p.Gly44Glu)	CYP2A7 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596949	NM_000764.3(CYP2A7):c.104C>T (p.Pro35Leu)	CYP2A7 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079487	NM_000764.3(CYP2A7):c.38C>A (p.Ala13Asp)	CYP2A7 (A13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270558	NM_000764.3(CYP2A7):c.32T>C (p.Leu11Ser)	CYP2A7 (L11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397390	NM_000764.3(CYP2A7):c.28G>A (p.Ala10Thr)	CYP2A7 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392395	NM_000764.3(CYP2A7):c.16C>A (p.Leu6Met)	CYP2A7 (L6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734245	NM_000764.3(CYP2A7):c.9C>G (p.Ala3=)	CYP2A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210957	NM_000764.3(CYP2A7):c.7G>A (p.Ala3Thr)	CYP2A7 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079490	NM_000764.3(CYP2A7):c.5T>A (p.Leu2Gln)	CYP2A7 (L2Q)	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 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

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Items: 79