ClinVar for Gene (Select 1572) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611493	NM_000774.5(CYP2F1):c.409A>T (p.Met137Leu)	CYP2F1 (M137L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591862	NM_000774.5(CYP2F1):c.1316A>G (p.Glu439Gly)	CYP2F1 (E439G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549697	NM_000774.5(CYP2F1):c.1132C>T (p.Arg378Cys)	CYP2F1 (R378C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526898	NM_000774.5(CYP2F1):c.503C>A (p.Thr168Lys)	CYP2F1 (T168K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524870	NM_000774.5(CYP2F1):c.181G>A (p.Glu61Lys)	CYP2F1 (E61K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2523525	NM_000774.5(CYP2F1):c.784C>T (p.Arg262Trp)	CYP2F1 (R262W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522427	NM_000774.5(CYP2F1):c.1214C>T (p.Pro405Leu)	CYP2F1 (P405L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511274	NM_000774.5(CYP2F1):c.163C>T (p.Leu55Phe)	CYP2F1 (L55F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509230	NM_000774.5(CYP2F1):c.640G>A (p.Gly214Ser)	CYP2F1 (G214S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483156	NM_000774.5(CYP2F1):c.1066G>A (p.Val356Met)	CYP2F1 (V356M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458081	NM_000774.5(CYP2F1):c.1192G>A (p.Asp398Asn)	CYP2F1 (D398N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454539	NM_000774.5(CYP2F1):c.238G>A (p.Gly80Arg)	CYP2F1 (G80R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 2409922	NM_000774.5(CYP2F1):c.1211C>T (p.Thr404Met)	CYP2F1 (T404M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408453	NM_000774.5(CYP2F1):c.46G>A (p.Val16Ile)	CYP2F1 (V16I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393348	NM_000774.5(CYP2F1):c.1472G>A (p.Arg491His)	CYP2F1 (R491H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375524	NM_000774.5(CYP2F1):c.1243G>A (p.Asp415Asn)	CYP2F1 (D415N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371207	NM_000774.5(CYP2F1):c.1319C>T (p.Ser440Leu)	CYP2F1 (S440L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364400	NM_000774.5(CYP2F1):c.1354G>A (p.Ala452Thr)	CYP2F1 (A452T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333157	NM_000774.5(CYP2F1):c.1279A>G (p.Met427Val)	CYP2F1 (M427V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261999	NM_000774.5(CYP2F1):c.650A>G (p.Tyr217Cys)	CYP2F1 (Y217C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236224	NM_000774.5(CYP2F1):c.14G>A (p.Ser5Asn)	CYP2F1 (S5N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225811	NM_000774.5(CYP2F1):c.1382C>T (p.Pro461Leu)	CYP2F1 (P461L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207714	NM_000774.5(CYP2F1):c.359G>A (p.Arg120Gln)	CYP2F1 (R120Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 786844	NM_000774.5(CYP2F1):c.293G>C (p.Arg98Pro)	CYP2F1 (R98P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 771522	NM_000774.5(CYP2F1):c.524T>G (p.Val175Gly)	CYP2F1 (V175G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 771520	NM_000774.5(CYP2F1):c.335-8C>G	CYP2F1	Single nucleotide variant (intron variant)	not provided	GBenign
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 768998	NM_000774.5(CYP2F1):c.798G>C (p.Gln266His)	CYP2F1 (Q266H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 402583	NM_000774.5(CYP2F1):c.15dup (p.Thr6fs)	CYP2F1 (T6fs)	Duplication (frameshift variant +1 more)	not specified	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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

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Links from Gene

Items: 39