APOBEC3B[gene] - ClinVar

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Items: 54

	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 147636	GRCh38/hg38 22q13.1(chr22:38927584-38984034)x1	APOBEC3A, APOBEC3B +1 more	Copy number loss	See cases	GBenign
Select item 154627	GRCh38/hg38 22q13.1(chr22:38957661-39011489)x1	APOBEC3A, APOBEC3B +3 more	Copy number loss	See cases	GBenign
Select item 147560	GRCh38/hg38 22q13.1(chr22:38957661-38984034)x1	APOBEC3A, APOBEC3B +1 more	Copy number loss	See cases	GBenign
Select item 154538	GRCh38/hg38 22q13.1(chr22:38963107-38989480)x1	APOBEC3A, APOBEC3B +2 more	Copy number loss	See cases	GBenign
Select item 2242345	NM_004900.5(APOBEC3B):c.23C>G (p.Pro8Arg)	APOBEC3B (P8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778951	NM_004900.5(APOBEC3B):c.69C>T (p.Asn23=)	APOBEC3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569752	NM_004900.5(APOBEC3B):c.83A>G (p.Tyr28Cys)	APOBEC3B (Y28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208143	NM_004900.5(APOBEC3B):c.95A>G (p.Tyr32Cys)	APOBEC3B (Y32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049516	NM_004900.5(APOBEC3B):c.133C>T (p.Arg45Cys)	APOBEC3B (R45C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1050472	NM_004900.5(APOBEC3B):c.174+1G>T	APOBEC3B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3417215	NM_004900.5(APOBEC3B):c.227G>A (p.Cys76Tyr)	APOBEC3B, LOC126863151 (C76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050592	NM_004900.5(APOBEC3B):c.262A>C (p.Ile88Leu)	APOBEC3B, LOC126863151 (I88L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3417222	NM_004900.5(APOBEC3B):c.287C>G (p.Pro96Arg)	APOBEC3B, LOC126863151 (P96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653140	NM_004900.5(APOBEC3B):c.325T>G (p.Ser109Ala)	APOBEC3A, APOBEC3B (S109A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3127939	NM_004900.5(APOBEC3B):c.456A>C (p.Glu152Asp)	APOBEC3B (E152D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308331	NM_004900.5(APOBEC3B):c.547C>T (p.Arg183Cys)	APOBEC3B (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127940	NM_004900.5(APOBEC3B):c.548G>A (p.Arg183His)	APOBEC3B (R183H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591413	NM_004900.5(APOBEC3B):c.594C>G (p.Phe198Leu)	APOBEC3B (F198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777709	NM_004900.5(APOBEC3B):c.618T>C (p.Pro206=)	APOBEC3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1048995	NM_004900.5(APOBEC3B):c.631C>T (p.Arg211Trp)	APOBEC3B (R211W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1050576	NM_004900.5(APOBEC3B):c.703A>G (p.Met235Val)	APOBEC3B (M235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308332	NM_004900.5(APOBEC3B):c.796C>A (p.Gln266Lys)	APOBEC3B (Q266K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417204	NM_004900.5(APOBEC3B):c.799T>G (p.Leu267Val)	APOBEC3B (L242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308333	NM_004900.5(APOBEC3B):c.799T>A (p.Leu267Met)	APOBEC3B (L242M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3417194	NM_004900.5(APOBEC3B):c.836T>G (p.Ile279Ser)	APOBEC3B (I279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127941	NM_004900.5(APOBEC3B):c.838T>A (p.Ser280Thr)	APOBEC3B (S255T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233914	NM_004900.5(APOBEC3B):c.846C>A (p.Ser282Arg)	APOBEC3B (S257R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456739	NM_004900.5(APOBEC3B):c.917G>A (p.Arg306His)	APOBEC3B (R306H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381796	NM_004900.5(APOBEC3B):c.979C>T (p.Arg327Trp)	APOBEC3B, APOBEC3B-AS1 (R302W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1049449	NM_004900.5(APOBEC3B):c.1026G>C (p.Glu342Asp)	APOBEC3B, APOBEC3B-AS1 (E317D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3127937	NM_004900.5(APOBEC3B):c.1051C>T (p.Arg351Cys)	APOBEC3B, APOBEC3B-AS1 (R326C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050108	NM_004900.5(APOBEC3B):c.1052G>A (p.Arg351His)	APOBEC3B-AS1, APOBEC3B (R326H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2540306	NM_004900.5(APOBEC3B):c.1069C>G (p.Gln357Glu)	APOBEC3B, APOBEC3B-AS1 (Q357E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312926	NM_004900.5(APOBEC3B):c.1072C>A (p.Pro358Thr)	APOBEC3B, APOBEC3B-AS1 (P333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127938	NM_004900.5(APOBEC3B):c.1121G>A (p.Arg374Gln)	APOBEC3B, APOBEC3B-AS1 (R374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	MCHR1, MGAT3 +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	PHETA2, PHF5A +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 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
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 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: 54