"GeneDx"[submitter] AND "APOA5"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 1227731	NM_001371904.1(APOA5):c.*286AG[3]	APOA5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1206592	NM_001371904.1(APOA5):c.*172C>T	APOA5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 127141	NM_001371904.1(APOA5):c.*158C>T	APOA5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1293389	NM_001371904.1(APOA5):c.*31C>T	APOA5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2574273	NM_001371904.1(APOA5):c.1025C>T (p.Ala342Val)	APOA5 (A342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496499	NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)	APOA5 (A315V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 420172	NM_001371904.1(APOA5):c.937C>T (p.Gln313Ter)	APOA5 (Q313*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1678133	NM_001371904.1(APOA5):c.888del (p.Ile296fs)	APOA5 (I296fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1196373	NM_001371904.1(APOA5):c.887T>G (p.Ile296Arg)	APOA5 (I296R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700404	NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile)	APOA5 (T292I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1204530	NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)	APOA5 (Q275*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 2501502	NM_001371904.1(APOA5):c.795del (p.Thr266fs)	APOA5 (T266fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1303205	NM_001371904.1(APOA5):c.763G>A (p.Glu255Lys)	APOA5 (E255K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305346	NM_001371904.1(APOA5):c.749T>C (p.Leu250Pro)	APOA5 (L250P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496497	NM_001371904.1(APOA5):c.696C>G (p.Ser232=)	APOA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1193244	NM_001371904.1(APOA5):c.648C>T (p.His216=)	APOA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3228884	NM_001371904.1(APOA5):c.607G>C (p.Gly203Arg)	APOA5 (G203R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 4402	NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	APOA5 (G185C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1303207	NM_001371904.1(APOA5):c.551C>G (p.Thr184Ser)	APOA5 (T184S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 496496	NM_001371904.1(APOA5):c.457G>A (p.Val153Met)	APOA5 (V153M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GBenign
Select item 1284499	NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)	APOA5 (Q145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712551	NM_001371904.1(APOA5):c.313G>T (p.Ala105Ser)	APOA5 (A105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381733	NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)	APOA5 (Q97*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 1810086	NM_001371904.1(APOA5):c.280C>T (p.Arg94Trp)	APOA5 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369465	NM_001371904.1(APOA5):c.176G>T (p.Ser59Ile)	APOA5, LOC108491825 (S59I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187967	NM_001371904.1(APOA5):c.168G>A (p.Leu56=)	APOA5, LOC108491825	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1297445	NM_001371904.1(APOA5):c.162-43A>G	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250629	NM_001371904.1(APOA5):c.162-251del	APOA5, LOC108491825	Deletion (intron variant)	not provided	GBenign
Select item 496495	NM_001371904.1(APOA5):c.132C>A (p.Ile44=)	APOA5, LOC108491825	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 387939	NM_001371904.1(APOA5):c.118A>G (p.Arg40Gly)	APOA5, LOC108491825 (R40G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 496494	NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu)	APOA5, LOC108491825 (D37E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1201050	NM_001371904.1(APOA5):c.50-28G>A	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252218	NM_001371904.1(APOA5):c.49+55G>T	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 36