CYP2F1[gene] and "single gene"[properties] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079549	NM_000774.5(CYP2F1):c.13A>T (p.Ser5Cys)	CYP2F1 (S5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236224	NM_000774.5(CYP2F1):c.14G>A (p.Ser5Asn)	CYP2F1 (S5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402583	NM_000774.5(CYP2F1):c.15dup (p.Thr6fs)	CYP2F1 (T6fs)	Duplication (frameshift variant +1 more)	not specified	GBenign
Select item 3270598	NM_000774.5(CYP2F1):c.22A>G (p.Ile8Val)	CYP2F1 (I8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408453	NM_000774.5(CYP2F1):c.46G>A (p.Val16Ile)	CYP2F1 (V16I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079553	NM_000774.5(CYP2F1):c.148G>C (p.Asp50His)	CYP2F1 (D50H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511274	NM_000774.5(CYP2F1):c.163C>T (p.Leu55Phe)	CYP2F1 (L55F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524870	NM_000774.5(CYP2F1):c.181G>A (p.Glu61Lys)	CYP2F1 (E61K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2454539	NM_000774.5(CYP2F1):c.238G>A (p.Gly80Arg)	CYP2F1 (G80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786844	NM_000774.5(CYP2F1):c.293G>C (p.Arg98Pro)	CYP2F1 (R98P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3270597	NM_000774.5(CYP2F1):c.304C>T (p.Pro102Ser)	CYP2F1 (P102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771520	NM_000774.5(CYP2F1):c.335-8C>G	CYP2F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2207714	NM_000774.5(CYP2F1):c.359G>A (p.Arg120Gln)	CYP2F1 (R120Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079554	NM_000774.5(CYP2F1):c.382T>G (p.Ser128Ala)	CYP2F1 (S128A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079555	NM_000774.5(CYP2F1):c.386T>A (p.Ile129Asn)	CYP2F1 (I129N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611493	NM_000774.5(CYP2F1):c.409A>T (p.Met137Leu)	CYP2F1 (M137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079556	NM_000774.5(CYP2F1):c.434G>A (p.Arg145Gln)	CYP2F1 (R145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526898	NM_000774.5(CYP2F1):c.503C>A (p.Thr168Lys)	CYP2F1 (T168K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771521	NM_000774.5(CYP2F1):c.523G>C (p.Val175Leu)	CYP2F1 (V175L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 771522	NM_000774.5(CYP2F1):c.524T>G (p.Val175Gly)	CYP2F1 (V175G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3079557	NM_000774.5(CYP2F1):c.586C>T (p.Leu196Phe)	CYP2F1 (L196F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509230	NM_000774.5(CYP2F1):c.640G>A (p.Gly214Ser)	CYP2F1 (G214S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261999	NM_000774.5(CYP2F1):c.650A>G (p.Tyr217Cys)	CYP2F1 (Y217C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523525	NM_000774.5(CYP2F1):c.784C>T (p.Arg262Trp)	CYP2F1 (R262W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079558	NM_000774.5(CYP2F1):c.790T>C (p.Phe264Leu)	CYP2F1 (F264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768998	NM_000774.5(CYP2F1):c.798G>C (p.Gln266His)	CYP2F1 (Q266H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3079559	NM_000774.5(CYP2F1):c.871A>G (p.Thr291Ala)	CYP2F1 (T291A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079560	NM_000774.5(CYP2F1):c.974A>T (p.Gln325Leu)	CYP2F1 (Q325L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079544	NM_000774.5(CYP2F1):c.1015G>A (p.Ala339Thr)	CYP2F1 (A339T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270593	NM_000774.5(CYP2F1):c.1051G>A (p.Ala351Thr)	CYP2F1 (A351T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079545	NM_000774.5(CYP2F1):c.1052C>T (p.Ala351Val)	CYP2F1 (A351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483156	NM_000774.5(CYP2F1):c.1066G>A (p.Val356Met)	CYP2F1 (V356M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785626	NM_000774.5(CYP2F1):c.1110C>T (p.Arg370=)	CYP2F1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2549697	NM_000774.5(CYP2F1):c.1132C>T (p.Arg378Cys)	CYP2F1 (R378C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681225	NM_000774.5(CYP2F1):c.1152+4C>A	CYP2F1	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 768999	NM_000774.5(CYP2F1):c.1172T>C (p.Leu391Pro)	CYP2F1 (L391P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2458081	NM_000774.5(CYP2F1):c.1192G>A (p.Asp398Asn)	CYP2F1 (D398N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270596	NM_000774.5(CYP2F1):c.1198A>T (p.Ser400Cys)	CYP2F1 (S400C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409922	NM_000774.5(CYP2F1):c.1211C>T (p.Thr404Met)	CYP2F1 (T404M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522427	NM_000774.5(CYP2F1):c.1214C>T (p.Pro405Leu)	CYP2F1 (P405L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375524	NM_000774.5(CYP2F1):c.1243G>A (p.Asp415Asn)	CYP2F1 (D415N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333157	NM_000774.5(CYP2F1):c.1279A>G (p.Met427Val)	CYP2F1 (M427V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079547	NM_000774.5(CYP2F1):c.1297C>T (p.Arg433Cys)	CYP2F1 (R433C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591862	NM_000774.5(CYP2F1):c.1316A>G (p.Glu439Gly)	CYP2F1 (E439G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371207	NM_000774.5(CYP2F1):c.1319C>T (p.Ser440Leu)	CYP2F1 (S440L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079548	NM_000774.5(CYP2F1):c.1327C>T (p.Arg443Cys)	CYP2F1 (R443C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364400	NM_000774.5(CYP2F1):c.1354G>A (p.Ala452Thr)	CYP2F1 (A452T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225811	NM_000774.5(CYP2F1):c.1382C>T (p.Pro461Leu)	CYP2F1 (P461L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270599	NM_000774.5(CYP2F1):c.1405G>C (p.Asp469His)	CYP2F1 (D469H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270595	NM_000774.5(CYP2F1):c.1405G>A (p.Asp469Asn)	CYP2F1 (D469N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079552	NM_000774.5(CYP2F1):c.1445G>A (p.Arg482Gln)	CYP2F1 (R482Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393348	NM_000774.5(CYP2F1):c.1472G>A (p.Arg491His)	CYP2F1 (R491H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 52