APOBEC4[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 3127974	NM_203454.3(APOBEC4):c.1066G>A (p.Glu356Lys)	APOBEC4, RGL1 (E356K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783956	NM_203454.3(APOBEC4):c.961A>G (p.Asn321Asp)	APOBEC4, RGL1 (N321D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783957	NM_203454.3(APOBEC4):c.899A>G (p.Asp300Gly)	RGL1, APOBEC4 (D300G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2592625	NM_203454.3(APOBEC4):c.866C>T (p.Ala289Val)	APOBEC4, RGL1 (A289V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3308365	NM_203454.3(APOBEC4):c.844A>C (p.Asn282His)	APOBEC4, RGL1 (N282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387334	NM_203454.3(APOBEC4):c.703G>A (p.Val235Ile)	APOBEC4, RGL1 (V235I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127977	NM_203454.3(APOBEC4):c.680A>G (p.Tyr227Cys)	APOBEC4, RGL1 (Y227C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334007	NM_203454.3(APOBEC4):c.610G>A (p.Gly204Ser)	APOBEC4, RGL1 (G204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783958	NM_203454.3(APOBEC4):c.587C>G (p.Ser196Cys)	APOBEC4, RGL1 (S196C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789700	NM_203454.3(APOBEC4):c.546G>A (p.Pro182=)	APOBEC4, RGL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2264863	NM_203454.3(APOBEC4):c.523C>T (p.Arg175Trp)	APOBEC4, RGL1 (R175W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407999	NM_203454.3(APOBEC4):c.514G>A (p.Glu172Lys)	APOBEC4, RGL1 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127976	NM_203454.3(APOBEC4):c.283G>A (p.Glu95Lys)	APOBEC4, RGL1 (E95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308359	NM_203454.3(APOBEC4):c.229A>G (p.Ser77Gly)	APOBEC4, RGL1 (S77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127975	NM_203454.3(APOBEC4):c.173C>T (p.Thr58Ile)	APOBEC4, RGL1 (T58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514344	NM_203454.3(APOBEC4):c.107G>T (p.Arg36Leu)	APOBEC4, RGL1 (R36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539080	NM_203454.3(APOBEC4):c.92G>T (p.Cys31Phe)	APOBEC4, RGL1 (C31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127978	NM_203454.3(APOBEC4):c.79G>A (p.Asp27Asn)	APOBEC4, RGL1 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062666	GRCh37/hg19 1q25.3(chr1:183494419-183633454)x1	APOBEC4, ARPC5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565203	GRCh37/hg19 1q25.3(chr1:183589206-183827325)x3	RGL1, APOBEC4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 45