APOBEC3F[gene] - ClinVar

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Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 157480	NM_152426.3(APOBEC3D):c.598_17235del	APOBEC3D, APOBEC3F +2 more	Deletion	Normal pregnancy	Gnot provided
Select item 2338776	NM_145298.6(APOBEC3F):c.7C>A (p.Pro3Thr)	APOBEC3F (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367483	NM_145298.6(APOBEC3F):c.85C>G (p.Arg29Gly)	APOBEC3F (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308345	NM_145298.6(APOBEC3F):c.175T>C (p.Tyr59His)	APOBEC3F (Y59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127959	NM_145298.5(APOBEC3F):c.196G>C	APOBEC3F	Single nucleotide variant	not specified	GUncertain significance
Select item 2242465	NM_145298.6(APOBEC3F):c.280A>G (p.Thr94Ala)	APOBEC3F (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300198	NM_145298.6(APOBEC3F):c.298G>A (p.Val100Met)	APOBEC3F (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322999	NM_145298.6(APOBEC3F):c.383G>A (p.Arg128Lys)	APOBEC3F (R128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308349	NM_145298.6(APOBEC3F):c.430G>C (p.Val144Leu)	APOBEC3F (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329418	NM_145298.6(APOBEC3F):c.444C>A (p.Asp148Glu)	APOBEC3F (D148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731745	NM_145298.6(APOBEC3F):c.453A>C (p.Glu151Asp)	APOBEC3F (E151D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2205871	NM_145298.6(APOBEC3F):c.525C>A (p.Asp175Glu)	APOBEC3F (D175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308344	NM_145298.6(APOBEC3F):c.536T>C (p.Phe179Ser)	APOBEC3F (F179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127960	NM_145298.6(APOBEC3F):c.545G>A (p.Arg182His)	APOBEC3F (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781619	NM_145298.6(APOBEC3F):c.573G>A (p.Pro191=)	APOBEC3F, LOC126863152	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2274716	NM_145298.6(APOBEC3F):c.622C>T (p.Arg208Cys)	APOBEC3F, LOC126863152 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525139	NM_145298.6(APOBEC3F):c.688C>G (p.Pro230Ala)	APOBEC3F, LOC126863152 (P230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527489	NM_145298.6(APOBEC3F):c.695C>T (p.Ser232Phe)	APOBEC3F, LOC126863152 (S232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335140	NM_145298.6(APOBEC3F):c.695C>G (p.Ser232Cys)	APOBEC3F, LOC126863152 (S232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527491	NM_145298.6(APOBEC3F):c.697T>C (p.Trp233Arg)	APOBEC3F, LOC126863152 (W233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757565	NM_145298.6(APOBEC3F):c.787C>T (p.Leu263=)	APOBEC3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352961	NM_145298.6(APOBEC3F):c.791C>G (p.Ser264Cys)	APOBEC3F (S264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474987	NM_145298.6(APOBEC3F):c.883A>G (p.Ser295Gly)	APOBEC3F (S295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781910	NM_145298.6(APOBEC3F):c.920A>G (p.Tyr307Cys)	APOBEC3F (Y307C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2343703	NM_145298.6(APOBEC3F):c.955C>T (p.Arg319Cys)	APOBEC3F (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127962	NM_145298.6(APOBEC3F):c.995G>C (p.Gly332Ala)	APOBEC3F (G332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774749	NM_145298.6(APOBEC3F):c.1037A>G (p.Asn346Ser)	APOBEC3F (N346S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3127958	NM_145298.6(APOBEC3F):c.1045G>A (p.Glu349Lys)	APOBEC3F (E349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782756	NM_145298.6(APOBEC3F):c.1117G>A (p.Glu373Lys)	APOBEC3F (E373K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395353	GRCh37/hg19 22q13.1(chr22:39410312-39441701)x3	APOBEC3C, APOBEC3D +1 more	Copy number gain	See cases	GUncertain significance
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 48