ClinVar for Gene (Select 60489) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308353	NM_021822.4(APOBEC3G):c.708C>G (p.Asn236Lys)	APOBEC3G (N169K +2 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 3127967	NM_021822.4(APOBEC3G):c.998C>A (p.Ala333Asp)	APOBEC3G (A266D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127966	NM_021822.4(APOBEC3G):c.976C>T (p.Arg326Cys)	APOBEC3G (R315C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127965	NM_021822.4(APOBEC3G):c.88C>T (p.Arg30Trp)	APOBEC3G (R30W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127964	NM_021822.4(APOBEC3G):c.818T>C (p.Leu273Pro)	APOBEC3G (L206P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127963	NM_021822.4(APOBEC3G):c.1064G>T (p.Gly355Val)	APOBEC3G (G355V +2 more)	Single nucleotide variant (missense variant)	not specified	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 2592903	NM_021822.4(APOBEC3G):c.214C>G (p.His72Asp)	APOBEC3G (H5D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551593	NM_021822.4(APOBEC3G):c.935C>T (p.Ala312Val)	APOBEC3G (A301V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538724	NM_021822.4(APOBEC3G):c.199G>A (p.Glu67Lys)	APOBEC3G (E67K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510257	NM_021822.4(APOBEC3G):c.798T>G (p.Ile266Met)	APOBEC3G (I199M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478913	NM_021822.4(APOBEC3G):c.36G>A (p.Met12Ile)	APOBEC3G (M12I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462468	NM_021822.4(APOBEC3G):c.364C>T (p.Arg122Cys)	APOBEC3G (R55C +2 more)	Single nucleotide variant (missense variant +1 more)	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 2403426	NM_021822.4(APOBEC3G):c.1106A>G (p.Gln369Arg)	APOBEC3G (Q369R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392711	NM_021822.4(APOBEC3G):c.938G>A (p.Arg313His)	APOBEC3G (R246H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385399	NM_021822.4(APOBEC3G):c.589A>G (p.Met197Val)	APOBEC3G (M197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363118	NM_021822.4(APOBEC3G):c.844T>G (p.Phe282Val)	APOBEC3G (F215V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326089	NM_021822.4(APOBEC3G):c.206G>A (p.Arg69Lys)	APOBEC3G (R2K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315854	NM_021822.4(APOBEC3G):c.224G>C (p.Ser75Thr)	APOBEC3G (S75T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291317	NM_021822.4(APOBEC3G):c.894C>A (p.Phe298Leu)	APOBEC3G (F287L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263550	NM_021822.4(APOBEC3G):c.814G>T (p.Asp272Tyr)	APOBEC3G (D261Y +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	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 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: 37