APOBEC3C[gene] - ClinVar

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Items: 35

	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 2411462	NM_014508.3(APOBEC3C):c.34A>G (p.Met12Val)	APOBEC3C (M12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127946	NM_014508.3(APOBEC3C):c.55T>G (p.Phe19Val)	APOBEC3C (F19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490365	NM_014508.3(APOBEC3C):c.73T>C (p.Trp25Arg)	APOBEC3C (W25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570279	NM_014508.3(APOBEC3C):c.88C>T (p.Arg30Trp)	APOBEC3C (R30W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556678	NM_014508.3(APOBEC3C):c.146C>G (p.Ser49Cys)	APOBEC3C (S49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366309	NM_014508.3(APOBEC3C):c.155C>T (p.Thr52Met)	APOBEC3C (T52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293020	NM_014508.3(APOBEC3C):c.158G>T (p.Gly53Val)	APOBEC3C (G53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370464	NM_014508.3(APOBEC3C):c.191A>C (p.His64Pro)	APOBEC3C (H64P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616103	NM_014508.3(APOBEC3C):c.196C>T (p.His66Tyr)	APOBEC3C (H66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127942	NM_014508.3(APOBEC3C):c.210C>G (p.Cys70Trp)	APOBEC3C (C70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127943	NM_014508.3(APOBEC3C):c.234C>G (p.Asp78Glu)	APOBEC3C (D78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127944	NM_014508.3(APOBEC3C):c.256T>A (p.Tyr86Asn)	APOBEC3C (Y86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247162	NM_014508.3(APOBEC3C):c.275C>T (p.Thr92Ile)	APOBEC3C (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279583	NM_014508.3(APOBEC3C):c.401G>C (p.Gly134Ala)	APOBEC3C (G134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127945	NM_014508.3(APOBEC3C):c.513G>C (p.Trp171Cys)	APOBEC3C (W171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252475	NM_014508.3(APOBEC3C):c.527C>A (p.Thr176Asn)	APOBEC3C (T176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710831	NM_014508.3(APOBEC3C):c.563G>T (p.Ser188Ile)	APOBEC3C (S188I)	Single nucleotide variant (missense variant)	not provided	GBenign
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	APOL2, APOL3 +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: 35