Related gene-specific medical variations for Gene (Select 335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236478	NM_000039.3(APOA1):c.478G>T (p.Glu160Ter)	APOA1, APOA1-AS (E145* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypoalphalipoproteinemia, primary, 2, intermediate	GPathogenic
Select item 3235072	NM_000039.3(APOA1):c.254G>C (p.Arg85Pro)	APOA1, APOA1-AS (R85P)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GUncertain significance
Select item 3231928	NM_000039.3(APOA1):c.42G>A (p.Thr14=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231920	NM_000039.3(APOA1):c.297G>C (p.Leu99=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231915	NM_000039.3(APOA1):c.279G>C (p.Gln93His)	APOA1, APOA1-AS (Q93H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231914	NM_000039.3(APOA1):c.271G>A (p.Val91Met)	APOA1, APOA1-AS (V91M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231910	NM_000039.3(APOA1):c.267C>A (p.Gly89=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231907	NM_000039.3(APOA1):c.176G>A (p.Gly59Asp)	APOA1, APOA1-AS (G59D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3127887	NM_000039.3(APOA1):c.79C>T (p.Pro27Ser)	APOA1, APOA1-AS (P27S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3022247	NM_000039.3(APOA1):c.420C>T (p.Arg140=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3012795	NM_000039.3(APOA1):c.489G>C (p.Glu163Asp)	APOA1, APOA1-AS (E148D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3007086	NM_000039.3(APOA1):c.308C>T (p.Thr103Ile)	APOA1, APOA1-AS (T103I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005790	NM_000039.3(APOA1):c.200+18G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004131	NM_000039.3(APOA1):c.11C>A (p.Ala4Glu)	APOA1, APOA1-AS (A4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002347	NM_000039.3(APOA1):c.391_392delinsTG (p.Lys131Trp)	APOA1, APOA1-AS (K131W +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2998246	NM_000039.3(APOA1):c.298G>C (p.Glu100Gln)	APOA1, APOA1-AS (E100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991021	NM_000039.3(APOA1):c.91C>T (p.Pro31Ser)	APOA1, APOA1-AS (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986425	NM_000039.3(APOA1):c.471G>C (p.Lys157Asn)	APOA1, APOA1-AS (K48N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2985998	NM_000039.3(APOA1):c.91C>G (p.Pro31Ala)	APOA1, APOA1-AS (P31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976950	NM_000039.3(APOA1):c.200+7A>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964007	NM_000039.3(APOA1):c.436C>T (p.Leu146=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2956739	NM_000039.3(APOA1):c.195G>A (p.Gln65=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917009	NM_000039.3(APOA1):c.261G>T (p.Gln87His)	APOA1, APOA1-AS (Q87H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2915469	NM_000039.3(APOA1):c.409G>T (p.Glu137Ter)	APOA1, APOA1-AS (E28* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2849555	NM_000039.3(APOA1):c.143A>G (p.Asp48Gly)	APOA1, APOA1-AS (D48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843554	NM_000039.3(APOA1):c.49C>A (p.Gln17Lys)	APOA1, APOA1-AS (Q17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836028	NM_000039.3(APOA1):c.114G>C (p.Leu38=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827883	NM_000039.3(APOA1):c.301A>G (p.Lys101Glu)	APOA1, APOA1-AS (K101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819693	NM_000039.3(APOA1):c.75T>G (p.Asp25Glu)	APOA1, APOA1-AS (D25E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782640	NM_000039.3(APOA1):c.280G>A (p.Glu94Lys)	APOA1, APOA1-AS (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780236	NM_000039.3(APOA1):c.56G>A (p.Arg19Gln)	APOA1, APOA1-AS (R19Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755101	NM_000039.3(APOA1):c.201-1G>C	APOA1, APOA1-AS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2735761	NM_000039.3(APOA1):c.392A>T (p.Lys131Met)	APOA1, APOA1-AS (K22M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2735760	NM_000039.3(APOA1):c.494T>G (p.Leu165Arg)	APOA1, APOA1-AS (L150R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2724538	NM_000039.3(APOA1):c.279G>A (p.Gln93=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642398	NM_000039.3(APOA1):c.491A>G (p.Lys164Arg)	APOA1, APOA1-AS (K149R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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)	Cardiovascular phenotype	GUncertain significance
Select item 2586723	NM_000039.3(APOA1):c.57G>T (p.Arg19=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2586722	NM_000039.3(APOA1):c.494T>C (p.Leu165Pro)	APOA1, APOA1-AS (L165P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 2572647	NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)	APOA1, APOA1-AS (Y42*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type	GLikely pathogenic
Select item 2566618	NM_000039.3(APOA1):c.465C>G (p.Arg155=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566617	NM_000039.3(APOA1):c.84C>T (p.Pro28=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2566616	NM_000039.3(APOA1):c.477C>G (p.His159Gln)	APOA1-AS, APOA1 (H159Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566614	NM_000039.3(APOA1):c.82C>T (p.Pro28Ser)	APOA1, APOA1-AS (P28S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2554657	NM_000039.3(APOA1):c.88A>G (p.Ser30Gly)	APOA1, APOA1-AS (S30G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452145	NM_000039.3(APOA1):c.397C>G (p.Gln133Glu)	APOA1, APOA1-AS (Q24E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2443193	NM_000039.3(APOA1):c.51G>C (p.Gln17His)	APOA1-AS, APOA1 (Q17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233945	NM_000039.3(APOA1):c.228C>G (p.Ser76Arg)	APOA1, APOA1-AS (S76R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2174166	NM_000039.3(APOA1):c.227G>A (p.Ser76Asn)	APOA1, APOA1-AS (S76N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2137256	NM_000039.3(APOA1):c.100C>T (p.Arg34Ter)	APOA1-AS, APOA1 (R34*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2120160	NM_000039.3(APOA1):c.120T>C (p.Thr40=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105130	NM_000039.3(APOA1):c.378C>G (p.Asp126Glu)	APOA1, APOA1-AS (D126E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2076307	NM_000039.3(APOA1):c.200+9C>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064501	NM_000039.3(APOA1):c.201-11_201-10insG	APOA1, APOA1-AS	Insertion (intron variant)	not provided	GUncertain significance
Select item 2038229	NM_000039.3(APOA1):c.39G>A (p.Leu13=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036853	NM_000039.3(APOA1):c.489G>A (p.Glu163=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2002302	NM_000039.3(APOA1):c.367C>A (p.Pro123Thr)	APOA1, APOA1-AS (P14T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001864	NM_000039.3(APOA1):c.76G>C (p.Glu26Gln)	APOA1, APOA1-AS (E26Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994280	NM_000039.3(APOA1):c.477C>A (p.His159Gln)	APOA1, APOA1-AS (H159Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1977672	NM_000039.3(APOA1):c.389A>G (p.Lys130Arg)	APOA1, APOA1-AS (K21R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1976011	NM_000039.3(APOA1):c.483G>A (p.Leu161=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1973337	NM_000039.3(APOA1):c.200+13C>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952221	NM_000039.3(APOA1):c.112C>G (p.Leu38Val)	APOA1, APOA1-AS (L38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943822	NM_000039.3(APOA1):c.452A>G (p.Gln151Arg)	APOA1, APOA1-AS (Q151R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1935798	NM_000039.3(APOA1):c.44-18C>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931763	NM_000039.3(APOA1):c.460G>A (p.Ala154Thr)	APOA1, APOA1-AS (A45T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1926174	NM_000039.3(APOA1):c.44-6C>T	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925385	NM_000039.3(APOA1):c.176G>T (p.Gly59Val)	APOA1, APOA1-AS (G59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918898	NM_000039.3(APOA1):c.43+5G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908611	NM_000039.3(APOA1):c.108G>A (p.Lys36=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1905986	NM_000039.3(APOA1):c.492G>A (p.Lys164=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1900584	NM_000039.3(APOA1):c.44-5C>G	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900575	NM_000039.3(APOA1):c.102A>G (p.Arg34=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900214	NM_000039.3(APOA1):c.201-13T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1799141	NM_000039.3(APOA1):c.303G>A (p.Lys101=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796177	NM_000039.3(APOA1):c.27C>T (p.Ala9=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1794433	NM_000039.3(APOA1):c.265G>A (p.Gly89Ser)	APOA1, APOA1-AS (G89S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793226	NM_000039.3(APOA1):c.256G>A (p.Glu86Lys)	APOA1, APOA1-AS (E86K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1789838	NM_000039.3(APOA1):c.233C>T (p.Thr78Ile)	APOA1, APOA1-AS (T78I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1786571	NM_000039.3(APOA1):c.213T>G (p.Leu71=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1782630	NM_000039.3(APOA1):c.191A>G (p.Lys64Arg)	APOA1, APOA1-AS (K64R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781662	NM_000039.3(APOA1):c.186G>A (p.Leu62=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779941	NM_000039.3(APOA1):c.177C>G (p.Gly59=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778327	NM_000039.3(APOA1):c.16C>T (p.Leu6=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1773749	NM_000039.3(APOA1):c.148G>A (p.Gly50Ser)	APOA1, APOA1-AS (G50S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1769377	NM_000039.3(APOA1):c.12G>T (p.Ala4=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1753309	NM_000039.3(APOA1):c.63C>T (p.Phe21=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1749760	NM_000039.3(APOA1):c.57G>A (p.Arg19=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1746022	NM_000039.3(APOA1):c.51G>A (p.Gln17=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1743841	NM_000039.3(APOA1):c.488A>G (p.Glu163Gly)	APOA1, APOA1-AS (E163G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1743497	NM_000039.3(APOA1):c.483G>T (p.Leu161=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1743264	NM_000039.3(APOA1):c.480G>A (p.Glu160=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1743028	NM_000039.3(APOA1):c.477C>T (p.His159=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1739552	NM_000039.3(APOA1):c.43+3A>G	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737998	NM_000039.3(APOA1):c.411G>A (p.Glu137=)	APOA1-AS, APOA1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1733864	NM_000039.3(APOA1):c.367C>T (p.Pro123Ser)	APOA1, APOA1-AS (P123S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1731004	NM_000039.3(APOA1):c.339T>G (p.Asp113Glu)	APOA1, APOA1-AS (D4E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1730297	NM_000039.3(APOA1):c.332G>A (p.Ser111Asn)	APOA1, APOA1-AS (S2N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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