"GeneDx"[submitter] AND "APOA1"[gene] - ClinVar

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Items: 29

	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 151348	GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3	APOA1, APOA1-AS +6 more	Copy number gain	See cases	GUncertain significance
Select item 1277343	NC_000011.10:g.116835627T>C	APOA1	Single nucleotide variant	not provided	GBenign
Select item 1286349	NC_000011.10:g.116835630A>T	APOA1	Single nucleotide variant	not provided	GBenign
Select item 1371350	NM_000039.3(APOA1):c.794_796dup (p.Asn265_Thr266insAsn)	APOA1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 302501	NM_000039.3(APOA1):c.732C>G (p.Pro244=)	APOA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 2 +6 more	GBenign/Likely benign
Select item 1306552	NM_000039.3(APOA1):c.611C>T (p.Ala204Val)	APOA1 (A204V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304677	NM_000039.3(APOA1):c.530G>C (p.Arg177Pro)	APOA1 (R177P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305499	NM_000039.3(APOA1):c.526G>A (p.Ala176Thr)	APOA1 (A176T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2624796	NM_000039.3(APOA1):c.485A>C (p.Gln162Pro)	APOA1, APOA1-AS (Q53P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 302505	NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)	APOA1, APOA1-AS (E152K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial visceral amyloidosis, Ostertag type +3 more	GConflicting classifications of pathogenicity
Select item 302506	NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)	APOA1, APOA1-AS (F95Y)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +4 more	GConflicting classifications of pathogenicity
Select item 1311131	NM_000039.3(APOA1):c.275C>T (p.Thr92Ile)	APOA1, APOA1-AS (T92I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337838	NM_000039.3(APOA1):c.242T>A (p.Phe81Tyr)	APOA1, APOA1-AS (F81Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2574405	NM_000039.3(APOA1):c.214G>A (p.Asp72Asn)	APOA1, APOA1-AS (D72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238519	NM_000039.3(APOA1):c.201-63C>T	APOA1-AS, APOA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189610	NM_000039.3(APOA1):c.201-150G>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272681	NM_000039.3(APOA1):c.201-211T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284090	NM_000039.3(APOA1):c.201-274C>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291757	NM_000039.3(APOA1):c.200+204G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220811	NM_000039.3(APOA1):c.200+134T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251605	NM_000039.3(APOA1):c.200+33T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 879223	NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)	APOA1, APOA1-AS (S60A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2578141	NM_000039.3(APOA1):c.100C>G (p.Arg34Gly)	APOA1, APOA1-AS (R34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504196	NM_000039.3(APOA1):c.85dup (p.Gln29fs)	APOA1, APOA1-AS (Q29fs)	Duplication (frameshift variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1225953	NM_000039.3(APOA1):c.43+41T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1239868	NM_000039.3(APOA1):c.-21+67C>T	APOA1, APOA1-AS	Single nucleotide variant (5 prime UTR variant +1 more)	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: 29