APOH[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 2317475	NM_000042.3(APOH):c.998C>T (p.Ala333Val)	APOH (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206176	NM_000042.3(APOH):c.920G>A (p.Cys307Tyr)	APOH (C307Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391753	NM_000042.3(APOH):c.858T>G (p.Phe286Leu)	APOH (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614298	NM_000042.3(APOH):c.805A>G (p.Lys269Glu)	APOH (K269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16042	NM_000042.2(APOH):c.796G>T (p.Val266Leu)	APOH (V266L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3128015	NM_000042.3(APOH):c.791G>T (p.Cys264Phe)	APOH (C264F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128014	NM_000042.3(APOH):c.652T>C (p.Tyr218His)	APOH (Y218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227280	NM_000042.3(APOH):c.584C>T (p.Thr195Ile)	APOH (T195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128013	NM_000042.3(APOH):c.582G>C (p.Trp194Cys)	APOH (W194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128012	NM_000042.3(APOH):c.544G>A (p.Gly182Arg)	APOH (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308574	NM_000042.3(APOH):c.536C>T (p.Ala179Val)	APOH (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516056	NM_000042.3(APOH):c.508G>A (p.Ala170Thr)	APOH (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780447	NM_000042.3(APOH):c.479C>A (p.Ala160Asp)	APOH (A160D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781328	NM_000042.3(APOH):c.477A>G (p.Ser159=)	APOH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324204	NM_000042.3(APOH):c.467A>G (p.Tyr156Cys)	APOH (Y156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239878	NM_000042.3(APOH):c.461G>A (p.Arg154His)	APOH (R154H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733532	NM_000042.3(APOH):c.396G>A (p.Pro132=)	APOH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548688	NM_000042.3(APOH):c.374C>T (p.Thr125Ile)	APOH (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524670	NM_000042.3(APOH):c.355G>A (p.Ala119Thr)	APOH (A119T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780448	NM_000042.3(APOH):c.338+10T>G	APOH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238518	NM_000042.3(APOH):c.314C>A (p.Thr105Lys)	APOH (T105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488178	NM_000042.3(APOH):c.257T>C (p.Phe86Ser)	APOH (F86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347800	NM_000042.3(APOH):c.242C>A (p.Pro81His)	APOH (P81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771498	NM_000042.3(APOH):c.224A>G (p.Asn75Ser)	APOH (N75S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784362	NM_000042.3(APOH):c.159G>T (p.Pro53=)	APOH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128011	NM_000042.3(APOH):c.122A>G (p.Tyr41Cys)	APOH (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 96713	NM_000042.3(APOH):c.112A>G (p.Lys38Glu)	APOH (K38E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 780449	NM_000042.3(APOH):c.64+8C>T	APOH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3308575	NM_000042.3(APOH):c.29C>G (p.Ser10Trp)	APOH (S10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526583	GRCh37/hg19 17q24.1-24.2(chr17:63764889-64931712)	APOH, CACNG5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 638095	GRCh37/hg19 17q24.1-24.2(chr17:64094511-64805553)x3	APOH, CEP112 +1 more	Copy number gain	See cases	GUncertain significance
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 564462	GRCh37/hg19 17q24.1-24.2(chr17:63623939-64633308)x3	APOH, PRKCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 44