ClinVar for Gene (Select 1553) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270547	NM_000766.5(CYP2A13):c.1316G>A (p.Cys439Tyr)	CYP2A13 (C439Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270546	NM_000766.5(CYP2A13):c.916G>A (p.Val306Met)	CYP2A13 (V306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270545	NM_000766.5(CYP2A13):c.1225C>T (p.Arg409Trp)	CYP2A13 (R409W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079474	NM_000766.5(CYP2A13):c.95A>G (p.Lys32Arg)	CYP2A13 (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079473	NM_000766.5(CYP2A13):c.947T>C (p.Leu316Pro)	CYP2A13 (L316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079472	NM_000766.5(CYP2A13):c.821G>A (p.Arg274His)	CYP2A13 (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079471	NM_000766.5(CYP2A13):c.794G>A (p.Arg265Gln)	CYP2A13 (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079470	NM_000766.5(CYP2A13):c.785A>C (p.Asn262Thr)	CYP2A13 (N262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079468	NM_000766.5(CYP2A13):c.658T>C (p.Tyr220His)	CYP2A13 (Y220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079467	NM_000766.5(CYP2A13):c.646A>G (p.Thr216Ala)	CYP2A13 (T216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079466	NM_000766.5(CYP2A13):c.584A>G (p.Asp195Gly)	CYP2A13 (D195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079465	NM_000766.5(CYP2A13):c.461G>A (p.Gly154Asp)	CYP2A13 (G154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079464	NM_000766.5(CYP2A13):c.421G>A (p.Gly141Ser)	CYP2A13 (G141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079463	NM_000766.5(CYP2A13):c.394A>G (p.Ile132Val)	CYP2A13 (I132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079462	NM_000766.5(CYP2A13):c.247G>A (p.Gly83Arg)	CYP2A13 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079461	NM_000766.5(CYP2A13):c.1223C>T (p.Pro408Leu)	CYP2A13 (P408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079460	NM_000766.5(CYP2A13):c.1209G>C (p.Arg403Ser)	CYP2A13 (R403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079459	NM_000766.5(CYP2A13):c.1142G>A (p.Arg381Gln)	CYP2A13 (R381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079458	NM_000766.5(CYP2A13):c.1061C>G (p.Ala354Gly)	CYP2A13 (A354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649921	NM_000766.5(CYP2A13):c.688C>T (p.Leu230=)	CYP2A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621946	NM_000766.5(CYP2A13):c.931C>T (p.Arg311Cys)	CYP2A13 (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610795	NM_000766.5(CYP2A13):c.1322G>C (p.Gly441Ala)	CYP2A13 (G441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607217	NM_000766.5(CYP2A13):c.291G>T (p.Glu97Asp)	CYP2A13 (E97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598512	NM_000766.5(CYP2A13):c.1166C>T (p.Thr389Ile)	CYP2A13 (T389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588529	NM_000766.5(CYP2A13):c.806A>G (p.Asp269Gly)	CYP2A13 (D269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533922	NM_000766.5(CYP2A13):c.92G>A (p.Gly31Glu)	CYP2A13 (G31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524223	NM_000766.5(CYP2A13):c.1291C>T (p.Pro431Ser)	CYP2A13 (P431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524064	NM_000766.5(CYP2A13):c.539A>G (p.Asn180Ser)	CYP2A13 (N180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516533	NM_000766.5(CYP2A13):c.445A>T (p.Ile149Phe)	CYP2A13 (I149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508141	NM_000766.5(CYP2A13):c.1255A>G (p.Lys419Glu)	CYP2A13 (K419E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494651	NM_000766.5(CYP2A13):c.346G>T (p.Val116Leu)	CYP2A13 (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493767	NM_000766.5(CYP2A13):c.208A>G (p.Thr70Ala)	CYP2A13 (T70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461253	NM_000766.5(CYP2A13):c.398C>T (p.Ala133Val)	CYP2A13 (A133V)	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 2412459	NM_000766.5(CYP2A13):c.1085T>C (p.Phe362Ser)	CYP2A13 (F362S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2409973	NM_000766.5(CYP2A13):c.1379T>G (p.Phe460Cys)	CYP2A13 (F460C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398725	NM_000766.5(CYP2A13):c.172C>T (p.Leu58Phe)	CYP2A13 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397243	NM_000766.5(CYP2A13):c.1354T>G (p.Phe452Val)	CYP2A13 (F452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394606	NM_000766.5(CYP2A13):c.361G>C (p.Gly121Arg)	CYP2A13 (G121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390610	NM_000766.5(CYP2A13):c.742A>G (p.Ile248Val)	CYP2A13 (I248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378264	NM_000766.5(CYP2A13):c.491A>G (p.His164Arg)	CYP2A13 (H164R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337445	NM_000766.5(CYP2A13):c.526C>A (p.Arg176Ser)	CYP2A13 (R176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307245	NM_000766.5(CYP2A13):c.966G>T (p.Glu322Asp)	CYP2A13 (E322D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294909	NM_000766.5(CYP2A13):c.1442C>G (p.Ala481Gly)	CYP2A13 (A481G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293374	NM_000766.5(CYP2A13):c.176T>C (p.Met59Thr)	CYP2A13 (M59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281656	NM_000766.5(CYP2A13):c.733G>A (p.Glu245Lys)	CYP2A13 (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281379	NM_000766.5(CYP2A13):c.1344G>T (p.Glu448Asp)	CYP2A13 (E448D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281108	NM_000766.5(CYP2A13):c.559T>C (p.Phe187Leu)	CYP2A13 (F187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277593	NM_000766.5(CYP2A13):c.46A>T (p.Thr16Ser)	CYP2A13 (T16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268683	NM_000766.5(CYP2A13):c.674C>T (p.Ser225Leu)	CYP2A13 (S225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248232	NM_000766.5(CYP2A13):c.1342G>A (p.Glu448Lys)	CYP2A13 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233848	NM_000766.5(CYP2A13):c.929T>C (p.Leu310Pro)	CYP2A13 (L310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231883	NM_000766.5(CYP2A13):c.443G>A (p.Arg148His)	CYP2A13 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226933	NM_000766.5(CYP2A13):c.1006G>A (p.Gly336Ser)	CYP2A13 (G336S)	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 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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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

ClinVar

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Links from Gene

Items: 62