ClinVar for Gene (Select 200315) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308329	NM_145699.4(APOBEC3A):c.46C>T (p.His16Tyr)	APOBEC3A (H16Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308328	NM_145699.4(APOBEC3A):c.322G>A (p.Gly108Arg)	APOBEC3A (G108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2653140	NM_004900.5(APOBEC3B):c.325T>G (p.Ser109Ala)	APOBEC3B, APOBEC3A (S109A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653139	NM_145699.4(APOBEC3A):c.126T>C (p.Asn42=)	APOBEC3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522099	NM_145699.4(APOBEC3A):c.106G>A (p.Glu36Lys)	APOBEC3A (E18K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2408776	NM_145699.4(APOBEC3A):c.206G>A (p.Arg69His)	APOBEC3A (R51H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380056	NM_145699.4(APOBEC3A):c.554C>A (p.Ala185Asp)	APOBEC3A (A185D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364453	NM_145699.4(APOBEC3A):c.571C>T (p.Arg191Trp)	APOBEC3A (R191W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216994	NM_145699.4(APOBEC3A):c.103T>A (p.Tyr35Asn)	APOBEC3A (Y35N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215531	NM_145699.4(APOBEC3A):c.205C>T (p.Arg69Cys)	APOBEC3A (R69C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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
Select item 154627	GRCh38/hg38 22q13.1(chr22:38957661-39011489)x1	APOBEC3A, APOBEC3B +3 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 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 151374	GRCh38/hg38 22q13.1(chr22:38846447-38976338)x3	APOBEC3A, CBX6 +8 more	Copy number gain	See cases	GLikely benign
Select item 147636	GRCh38/hg38 22q13.1(chr22:38927584-38984034)x1	APOBEC3A, APOBEC3B +1 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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
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 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 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

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Links from Gene

Items: 34