ClinVar for Gene (Select 140564) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308343	NM_152426.4(APOBEC3D):c.602T>G (p.Leu201Arg)	APOBEC3D (L201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308342	NM_152426.4(APOBEC3D):c.477C>G (p.Ile159Met)	APOBEC3D (I159M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308340	NM_152426.4(APOBEC3D):c.706G>C (p.Glu236Gln)	APOBEC3D (E236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308337	NM_152426.4(APOBEC3D):c.718C>T (p.His240Tyr)	APOBEC3D (H240Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308336	NM_152426.4(APOBEC3D):c.781T>A (p.Cys261Ser)	APOBEC3D (C261S +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 3127957	NM_152426.4(APOBEC3D):c.994T>C (p.Cys332Arg)	APOBEC3D (C148R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127956	NM_152426.4(APOBEC3D):c.885G>C (p.Glu295Asp)	APOBEC3D (E295D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127955	NM_152426.4(APOBEC3D):c.794G>T (p.Arg265Met)	APOBEC3D (R265M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127954	NM_152426.4(APOBEC3D):c.790G>A (p.Glu264Lys)	APOBEC3D (E264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127953	NM_152426.4(APOBEC3D):c.784C>T (p.His262Tyr)	APOBEC3D (H262Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127952	NM_152426.4(APOBEC3D):c.674G>A (p.Gly225Asp)	APOBEC3D (G225D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127951	NM_152426.4(APOBEC3D):c.587C>T (p.Thr196Met)	APOBEC3D (T196M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127950	NM_152426.4(APOBEC3D):c.361G>T (p.Ala121Ser)	APOBEC3D (A121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127949	NM_152426.4(APOBEC3D):c.248T>G (p.Phe83Cys)	APOBEC3D (F83C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127948	NM_152426.4(APOBEC3D):c.235G>C (p.Ala79Pro)	APOBEC3D (A79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127947	NM_152426.4(APOBEC3D):c.188G>T (p.Arg63Leu)	APOBEC3D (R63L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2608646	NM_152426.4(APOBEC3D):c.509A>C (p.Glu170Ala)	APOBEC3D (E170A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606348	NM_152426.4(APOBEC3D):c.989G>A (p.Gly330Glu)	APOBEC3D (G330E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605080	NM_152426.4(APOBEC3D):c.838A>G (p.Thr280Ala)	APOBEC3D (T280A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523932	NM_152426.4(APOBEC3D):c.359T>C (p.Leu120Ser)	APOBEC3D (L120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487557	NM_152426.4(APOBEC3D):c.938C>T (p.Thr313Ile)	APOBEC3D (T129I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471683	NM_152426.4(APOBEC3D):c.89G>A (p.Arg30Gln)	APOBEC3D (R30Q)	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 2410567	NM_152426.4(APOBEC3D):c.220C>T (p.Arg74Trp)	APOBEC3D (R74W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392432	NM_152426.4(APOBEC3D):c.55G>A (p.Asp19Asn)	APOBEC3D (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374157	NM_152426.4(APOBEC3D):c.173C>T (p.Pro58Leu)	APOBEC3D (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372700	NM_152426.4(APOBEC3D):c.677G>A (p.Arg226Gln)	APOBEC3D (R226Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366357	NM_152426.4(APOBEC3D):c.906G>C (p.Glu302Asp)	APOBEC3D (E118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354357	NM_152426.4(APOBEC3D):c.466C>T (p.Arg156Cys)	APOBEC3D (R156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305782	NM_152426.4(APOBEC3D):c.365A>G (p.Glu122Gly)	APOBEC3D (E122G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305583	NM_152426.4(APOBEC3D):c.985G>A (p.Glu329Lys)	APOBEC3D (E145K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270216	NM_152426.4(APOBEC3D):c.748G>C (p.Val250Leu)	APOBEC3D (V250L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266358	NM_152426.4(APOBEC3D):c.733T>G (p.Phe245Val)	APOBEC3D (F245V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232515	NM_152426.4(APOBEC3D):c.374A>G (p.Asn125Ser)	APOBEC3D (N125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222297	NM_152426.4(APOBEC3D):c.431G>A (p.Arg144Gln)	APOBEC3D (R144Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215402	NM_152426.4(APOBEC3D):c.435G>T (p.Trp145Cys)	APOBEC3D (W145C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211430	NM_152426.4(APOBEC3D):c.737G>T (p.Arg246Leu)	APOBEC3D (R246L)	Single nucleotide variant (missense variant +1 more)	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 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
Select item 157480	NM_152426.3(APOBEC3D):c.598_17235del	APOBEC3D, APOBEC3F +2 more	Deletion	Normal pregnancy	Gnot provided
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

ClinVar

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Links from Gene

Items: 56