600[HGNC] - ClinVar - NCBI

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	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 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 17919	NC_000011.10:g.(?_116800700)_(116841000_?)del	APOA1, APOA1-AS +3 more	Deletion	Apolipoprotein A-I deficiency	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 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 17918	NC_000011.10:g.116830247_116836307inv	APOA1, APOA1-AS +1 more	Inversion (splice acceptor variant +2 more)	High density lipoprotein deficiency, Detroit type +1 more	GPathogenic
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 302500	NM_000039.3(APOA1):c.*19C>G	APOA1	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +4 more	GBenign
Select item 877608	NM_000039.3(APOA1):c.*17C>T	APOA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GLikely benign
Select item 2573398	NM_000039.3(APOA1):c.11_15del	APOA1	Deletion (3 prime UTR variant)	not specified	GUncertain significance
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 3231952	NM_000039.3(APOA1):c.790C>G (p.Leu264Val)	APOA1 (L155V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231950	NM_000039.3(APOA1):c.789G>T (p.Lys263Asn)	APOA1 (K154N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1574974	NM_000039.3(APOA1):c.789G>A (p.Lys263=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715453	NM_000039.3(APOA1):c.779A>G (p.Tyr260Cys)	APOA1 (Y151C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868047	NM_000039.3(APOA1):c.777G>A (p.Glu259=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2452143	NM_000039.3(APOA1):c.772G>C (p.Glu258Gln)	APOA1 (E258Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2072977	NM_000039.3(APOA1):c.771C>T (p.Leu257=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454529	NM_000039.3(APOA1):c.771C>G (p.Leu257=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3231949	NM_000039.3(APOA1):c.769C>T (p.Leu257Phe)	APOA1 (L148F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760067	NM_000039.3(APOA1):c.766G>A (p.Ala256Thr)	APOA1 (A147T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1760017	NM_000039.3(APOA1):c.765C>T (p.Ser255=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2829433	NM_000039.3(APOA1):c.761T>G (p.Leu254Arg)	APOA1 (L145R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2452142	NM_000039.3(APOA1):c.760C>T (p.Leu254=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1301313	NM_000039.3(APOA1):c.752T>A (p.Val251Asp)	APOA1 (V142D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1993549	NM_000039.3(APOA1):c.741G>C (p.Glu247Asp)	APOA1 (E138D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1758352	NM_000039.3(APOA1):c.732C>T (p.Pro244=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1590899	NM_000039.3(APOA1):c.726G>C (p.Leu242=)	APOA1	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +4 more	GLikely benign
Select item 1757901	NM_000039.3(APOA1):c.724C>A (p.Leu242Met)	APOA1 (L242M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1922067	NM_000039.3(APOA1):c.714C>T (p.Leu238=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711000	NM_000039.3(APOA1):c.711C>T (p.Asp237=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2452141	NM_000039.3(APOA1):c.705C>T (p.Leu235=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 877609	NM_000039.3(APOA1):c.705C>G (p.Leu235=)	APOA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1756824	NM_000039.3(APOA1):c.703C>G (p.Leu235Val)	APOA1 (L126V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756514	NM_000039.3(APOA1):c.699C>T (p.Pro233=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231946	NM_000039.3(APOA1):c.693C>G (p.Ala231=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2880958	NM_000039.3(APOA1):c.690G>A (p.Lys230=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1755932	NM_000039.3(APOA1):c.687G>A (p.Glu229=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 17921	NM_000039.3(APOA1):c.678del (p.Leu227fs)	APOA1 (L118fs +1 more)	Deletion (frameshift variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 878622	NM_000039.3(APOA1):c.677C>T (p.Thr226Met)	APOA1 (T117M +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 1472118	NM_000039.3(APOA1):c.668A>G (p.His223Arg)	APOA1 (H114R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563010	NM_000039.3(APOA1):c.666G>A (p.Glu222=)	APOA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 17912	NM_000039.3(APOA1):c.664G>A (p.Glu222Lys)	APOA1 (E222K +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +2 more	GUncertain significance
Select item 1919413	NM_000039.3(APOA1):c.663C>G (p.Thr221=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1754560	NM_000039.3(APOA1):c.662C>G (p.Thr221Ser)	APOA1 (T221S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2702220	NM_000039.3(APOA1):c.658G>C (p.Ala220Pro)	APOA1 (A111P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1753541	NM_000039.3(APOA1):c.643G>A (p.Glu215Lys)	APOA1 (E106K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430668	NM_000039.3(APOA1):c.643G>C (p.Glu215Gln)	APOA1 (E106Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604560	NM_000039.3(APOA1):c.642C>T (p.Ala214=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1553912	NM_000039.3(APOA1):c.642C>G (p.Ala214=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008488	NM_000039.3(APOA1):c.641C>T (p.Ala214Val)	APOA1 (A105V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123175	NM_000039.3(APOA1):c.639G>A (p.Leu213=)	APOA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306910	NM_000039.3(APOA1):c.634A>G (p.Arg212Gly)	APOA1 (R103G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231944	NM_000039.3(APOA1):c.629G>A (p.Gly210Asp)	APOA1 (G101D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231943	NM_000039.3(APOA1):c.627C>T (p.Gly209=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 915860	NM_000039.3(APOA1):c.625G>A (p.Gly209Ser)	APOA1 (G100S +1 more)	Single nucleotide variant (missense variant)	Chronic kidney disease	GUncertain significance
Select item 2808039	NM_000039.3(APOA1):c.621G>C (p.Glu207Asp)	APOA1 (E207D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1284381	NM_000039.3(APOA1):c.605T>C (p.Leu202Pro)	APOA1 (L202P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2111719	NM_000039.3(APOA1):c.602G>C (p.Arg201Pro)	APOA1 (R92P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2566615	NM_000039.3(APOA1):c.599C>T (p.Ala200Val)	APOA1 (A200V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 17934	NM_000039.3(APOA1):c.595G>C (p.Ala199Pro)	APOA1 (A199P +1 more)	Single nucleotide variant (missense variant)	Familial amyloid polyneuropathy, Iowa type	GPathogenic
Select item 2023977	NM_000039.3(APOA1):c.577_592dup (p.Leu198Ter)	APOA1 (L198* +1 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 17933	NM_000039.3(APOA1):c.593T>C (p.Leu198Ser)	APOA1 (L198S +1 more)	Single nucleotide variant (missense variant)	Familial amyloid polyneuropathy, Iowa type	GPathogenic
Select item 2137255	NM_000039.3(APOA1):c.590G>C (p.Arg197Pro)	APOA1 (R88P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17909	NM_000039.3(APOA1):c.589C>T (p.Arg197Cys)	APOA1 (R197C +1 more)	Single nucleotide variant (missense variant)	APOLIPOPROTEIN A-I (MILANO)	GPathogenic
Select item 2108457	NM_000039.3(APOA1):c.577G>T (p.Glu193Ter)	APOA1 (E193* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1749522	NM_000039.3(APOA1):c.576C>G (p.Asp192Glu)	APOA1 (D192E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1749121	NM_000039.3(APOA1):c.569A>G (p.Tyr190Cys)	APOA1 (Y81C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 17916	NM_000039.3(APOA1):c.566C>G (p.Pro189Arg)	APOA1 (P189R +1 more)	Single nucleotide variant (missense variant)	Apolipoprotein A-I deficiency	GPathogenic
Select item 2809567	NM_000039.3(APOA1):c.551_564dup (p.Pro189fs)	APOA1 (P189fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3306899	NM_000039.3(APOA1):c.564C>T (p.Ala188=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1217233	NM_000039.3(APOA1):c.564C>G (p.Ala188=)	APOA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 3030577	NM_000039.3(APOA1):c.563C>T (p.Ala188Val)	APOA1 (A173V +2 more)	Single nucleotide variant (missense variant)	APOA1-related disorder	GUncertain significance
Select item 3231941	NM_000039.3(APOA1):c.562G>A (p.Ala188Thr)	APOA1 (A173T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 302502	NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)	APOA1 (A188S +1 more)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +4 more	GConflicting classifications of pathogenicity
Select item 2452144	NM_000039.3(APOA1):c.555G>A (p.Thr185=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1609652	NM_000039.3(APOA1):c.555G>C (p.Thr185=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1748231	NM_000039.3(APOA1):c.554C>T (p.Thr185Met)	APOA1 (T76M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2735759	NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)	APOA1 (L168P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979720	NM_000039.3(APOA1):c.544G>A (p.Ala182Thr)	APOA1 (A182T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341582	NM_000039.3(APOA1):c.542A>G (p.Asp181Gly)	APOA1 (D181G +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GLikely pathogenic
Select item 1747282	NM_000039.3(APOA1):c.539T>C (p.Val180Ala)	APOA1 (V71A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 17929	NM_000039.3(APOA1):c.539T>A (p.Val180Glu)	APOA1 (V180E +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 1907392	NM_000039.3(APOA1):c.537T>G (p.His179Gln)	APOA1 (H179Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591724	NM_000039.3(APOA1):c.524_535dup (p.Ala178_His179insArgAlaArgAla)	APOA1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3231937	NM_000039.3(APOA1):c.534C>G (p.Ala178=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 565272	NM_000039.3(APOA1):c.532_533dup (p.His179fs)	APOA1 (H179fs +1 more)	Microsatellite (frameshift variant)	Hypoalphalipoproteinemia, primary, 2, intermediate +3 more	GPathogenic/Likely pathogenic
Select item 3127886	NM_000039.3(APOA1):c.532_533del (p.Ala178fs)	APOA1 (A178fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
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 2407516	NM_000039.3(APOA1):c.527C>T (p.Ala176Val)	APOA1 (A176V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2780235	NM_000039.3(APOA1):c.523C>T (p.Arg175Cys)	APOA1 (R175C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1746278	NM_000039.3(APOA1):c.523C>G (p.Arg175Gly)	APOA1 (R175G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2850625	NM_000039.3(APOA1):c.520G>A (p.Asp174Asn)	APOA1 (D159N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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