ClinVar for Gene (Select 164668) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308354	NM_181773.5(APOBEC3H):c.395C>T (p.Pro132Leu)	APOBEC3H (P132L)	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 3127973	NM_181773.5(APOBEC3H):c.49C>T (p.Arg17Cys)	APOBEC3H (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127972	NM_181773.5(APOBEC3H):c.478T>G (p.Tyr160Asp)	APOBEC3H (Y160D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127971	NM_181773.5(APOBEC3H):c.385T>A (p.Ser129Thr)	APOBEC3H (S129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127970	NM_181773.5(APOBEC3H):c.322G>A (p.Ala108Thr)	APOBEC3H (A108T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127969	NM_181773.5(APOBEC3H):c.134G>T (p.Gly45Val)	APOBEC3H (G45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127968	NM_181773.5(APOBEC3H):c.122C>T (p.Thr41Met)	APOBEC3H (T41M)	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 2653141	NM_181773.5(APOBEC3H):c.414C>T (p.Phe138=)	APOBEC3H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610183	NM_181773.5(APOBEC3H):c.314G>T (p.Gly105Val)	APOBEC3H (G105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558734	NM_181773.5(APOBEC3H):c.28C>T (p.Arg10Cys)	APOBEC3H (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509014	NM_181773.5(APOBEC3H):c.29G>A (p.Arg10His)	APOBEC3H (R10H)	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 2384383	NM_181773.5(APOBEC3H):c.338A>G (p.Tyr113Cys)	APOBEC3H (Y113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296756	NM_181773.5(APOBEC3H):c.410G>C (p.Gly137Ala)	APOBEC3H (G137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274872	NM_181773.5(APOBEC3H):c.242C>T (p.Thr81Met)	APOBEC3H (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256632	NM_181773.5(APOBEC3H):c.364G>T (p.Gly122Trp)	APOBEC3H (G122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249034	NM_181773.5(APOBEC3H):c.50G>A (p.Arg17His)	APOBEC3H (R17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240351	NM_181773.5(APOBEC3H):c.103A>T (p.Thr35Ser)	APOBEC3H (T35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227440	NM_181773.5(APOBEC3H):c.371G>A (p.Arg124Gln)	APOBEC3H (R124Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220115	NM_181773.5(APOBEC3H):c.196A>G (p.Met66Val)	APOBEC3H (M66V)	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 717866	NM_181773.5(APOBEC3H):c.321C>T (p.Phe107=)	APOBEC3H	Single nucleotide variant (synonymous variant)	not provided	GBenign
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