ClinVar for Gene (Select 116519) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066069	NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter)	APOA5, ZPR1 (C227*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1	GLikely pathogenic
Select item 3040144	NM_001371904.1(APOA5):c.819C>T (p.Asp273=)	APOA5	Single nucleotide variant (synonymous variant)	APOA5-related condition	GLikely benign
Select item 3021405	NM_001371904.1(APOA5):c.622G>A (p.Glu208Lys)	APOA5 (E208K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997690	NM_001371904.1(APOA5):c.360G>C (p.Trp120Cys)	APOA5 (W120C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992805	NM_001371904.1(APOA5):c.563A>G (p.Lys188Arg)	APOA5 (K188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978737	NM_001371904.1(APOA5):c.610C>T (p.Arg204Cys)	APOA5 (R204C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964344	NM_001371904.1(APOA5):c.698G>A (p.Arg233Gln)	APOA5 (R233Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961422	NM_001371904.1(APOA5):c.954A>C (p.Pro318=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959280	NM_001371904.1(APOA5):c.848A>G (p.Gln283Arg)	APOA5 (Q283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871459	NM_001371904.1(APOA5):c.1095C>T (p.Asp365=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853696	NM_001371904.1(APOA5):c.1066C>T (p.His356Tyr)	APOA5 (H356Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841830	NM_001371904.1(APOA5):c.1028G>C (p.Arg343Pro)	APOA5 (R343P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816589	NM_001371904.1(APOA5):c.225G>A (p.Arg75=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813598	NM_001371904.1(APOA5):c.43C>T (p.Leu15Phe)	APOA5, LOC108491825 (L15F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798990	NM_001371904.1(APOA5):c.161+15dup	APOA5, LOC108491825	Duplication (intron variant)	not provided	GBenign
Select item 2788251	NM_001371904.1(APOA5):c.894C>T (p.Ala298=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771672	NM_001371904.1(APOA5):c.777A>T (p.Arg259Ser)	APOA5 (R259S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757041	NM_001371904.1(APOA5):c.576C>T (p.His192=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710449	NM_001371904.1(APOA5):c.49+5G>T	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2709662	NM_001371904.1(APOA5):c.593T>C (p.Leu198Pro)	APOA5 (L198P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702539	NM_001371904.1(APOA5):c.256C>G (p.Pro86Ala)	APOA5 (P86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697497	NM_001371904.1(APOA5):c.509_514del (p.Trp170_Ala171del)	APOA5	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2685424	GRCh37/hg19 11q23.3(chr11:116575812-116684028)x1	APOA5, BUD13 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2683167	NM_001371904.1(APOA5):c.8G>A (p.Ser3Asn)	APOA5, LOC108491825 (S3N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2636423	NM_001371904.1(APOA5):c.428G>A (p.Arg143His)	APOA5 (R143H)	Single nucleotide variant (missense variant)	APOA5-related condition	GUncertain significance
Select item 2627073	NM_001371904.1(APOA5):c.16_39del (p.Ala6_Ala13del)	APOA5, LOC108491825	Deletion (inframe_deletion)	Familial type 5 hyperlipoproteinemia	GLikely pathogenic
Select item 2624862	NM_001371904.1(APOA5):c.802G>A (p.Glu268Lys)	APOA5 (E268K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2617654	NM_001371904.1(APOA5):c.694T>C (p.Ser232Pro)	APOA5 (S232P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609895	NM_001371904.1(APOA5):c.500A>T (p.Asp167Val)	APOA5 (D167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587098	NM_001371904.1(APOA5):c.105C>T (p.Ser35=)	APOA5, LOC108491825	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2587097	NM_001371904.1(APOA5):c.1002C>A (p.Gly334=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2587096	NM_001371904.1(APOA5):c.454C>T (p.Arg152Cys)	APOA5 (R152C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587095	NM_001371904.1(APOA5):c.889G>A (p.Ala297Thr)	APOA5 (A297T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587094	NM_001371904.1(APOA5):c.578_601del (p.Pro193_Gly201delinsArg)	APOA5	Deletion (inframe_indel)	Cardiovascular phenotype	GUncertain significance
Select item 2587093	NM_001371904.1(APOA5):c.42dup (p.Leu15fs)	APOA5, LOC108491825 (L15fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2581642	NM_001371904.1(APOA5):c.274A>G (p.Met92Val)	APOA5 (M92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581639	NM_001371904.1(APOA5):c.-11C>G	APOA5, LOC108491825	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2581547	NM_001371904.1(APOA5):c.*12C>T	APOA5	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2581546	NM_001371904.1(APOA5):c.*17G>A	APOA5	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2577176	NM_001371904.1(APOA5):c.625C>T (p.Leu209=)	APOA5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2567122	NM_001371904.1(APOA5):c.521A>G (p.Gln174Arg)	APOA5 (Q174R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2567121	NM_001371904.1(APOA5):c.641C>T (p.Ala214Val)	APOA5 (A214V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567120	NM_001371904.1(APOA5):c.615C>A (p.His205Gln)	APOA5 (H205Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567117	NM_001371904.1(APOA5):c.932A>G (p.Gln311Arg)	APOA5 (Q311R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567116	NM_001371904.1(APOA5):c.916G>A (p.Glu306Lys)	APOA5 (E306K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567115	NM_001371904.1(APOA5):c.624G>A (p.Glu208=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2567114	NM_001371904.1(APOA5):c.586G>A (p.Glu196Lys)	APOA5 (E196K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567113	NM_001371904.1(APOA5):c.480C>A (p.Ala160=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2535100	NM_001371904.1(APOA5):c.535C>T (p.Arg179Cys)	APOA5 (R179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501502	NM_001371904.1(APOA5):c.795del (p.Thr266fs)	APOA5 (T266fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2452822	NM_001371904.1(APOA5):c.919A>G (p.Thr307Ala)	APOA5 (T307A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452821	NM_001371904.1(APOA5):c.902G>A (p.Arg301His)	APOA5 (R301H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452820	NM_001371904.1(APOA5):c.122T>C (p.Val41Ala)	APOA5, LOC108491825 (V41A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452819	NM_001371904.1(APOA5):c.210C>T (p.Phe70=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2452818	NM_001371904.1(APOA5):c.333G>T (p.Met111Ile)	APOA5 (M111I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452817	NM_001371904.1(APOA5):c.548A>T (p.His183Leu)	APOA5 (H183L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452816	NM_001371904.1(APOA5):c.495C>A (p.Gly165=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2452815	NM_001371904.1(APOA5):c.332T>A (p.Met111Lys)	APOA5 (M111K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2434519	NM_001371904.1(APOA5):c.117_120del (p.Arg40fs)	APOA5, LOC108491825 (R40fs)	Deletion (frameshift variant)	Familial type 5 hyperlipoproteinemia	GLikely pathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2417683	NM_001371904.1(APOA5):c.578C>T (p.Pro193Leu)	APOA5 (P193L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330568	NM_001371904.1(APOA5):c.565G>A (p.Glu189Lys)	APOA5 (E189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293426	NM_001371904.1(APOA5):c.77G>C (p.Gly26Ala)	LOC108491825, APOA5 (G26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273739	NM_001371904.1(APOA5):c.152G>C (p.Arg51Pro)	APOA5, LOC108491825 (R51P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253204	NM_001371904.1(APOA5):c.703C>T (p.Leu235Phe)	APOA5 (L235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184688	NM_001371904.1(APOA5):c.730G>T (p.Ala244Ser)	APOA5 (A244S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2137254	NM_001371904.1(APOA5):c.327dup (p.Tyr110fs)	APOA5 (Y110fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2137253	NM_001371904.1(APOA5):c.518T>C (p.Leu173Pro)	APOA5 (L173P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137252	NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu)	APOA5 (P215L)	Single nucleotide variant (missense variant)	Hypertriglyceridemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2137251	NM_001371904.1(APOA5):c.733C>T (p.Arg245Cys)	APOA5 (R245C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137250	NM_001371904.1(APOA5):c.815C>A (p.Pro272Gln)	APOA5 (P272Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114736	NM_001371904.1(APOA5):c.556C>A (p.Arg186Ser)	APOA5 (R186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076306	NM_001371904.1(APOA5):c.295G>A (p.Glu99Lys)	APOA5 (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2076102	NM_001371904.1(APOA5):c.162-8T>G	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2049432	NM_001371904.1(APOA5):c.119G>T (p.Arg40Met)	APOA5, LOC108491825 (R40M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2023733	NM_001371904.1(APOA5):c.162-5T>A	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1994276	NM_001371904.1(APOA5):c.386T>C (p.Leu129Pro)	APOA5 (L129P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965965	NM_001371904.1(APOA5):c.49+5G>A	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1963193	NM_001371904.1(APOA5):c.471C>T (p.Asp157=)	APOA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944909	NM_001371904.1(APOA5):c.648C>A (p.His216Gln)	APOA5 (H216Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940036	NM_001371904.1(APOA5):c.979G>C (p.Glu327Gln)	APOA5 (E327Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925752	NM_001371904.1(APOA5):c.973G>A (p.Ala325Thr)	APOA5 (A325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923334	NM_001371904.1(APOA5):c.161+14G>C	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1807952	GRCh37/hg19 11q23.3(chr11:116660464-116711974)x1	APOA1, APOA4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1803845	NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)	APOA5 (S361R)	Single nucleotide variant (missense variant)	Familial type 5 hyperlipoproteinemia +1 more	GUncertain significance
Select item 1798043	NM_001371904.1(APOA5):c.294G>C (p.Glu98Asp)	APOA5 (E98D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797037	NM_001371904.1(APOA5):c.286C>T (p.Leu96=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796430	NM_001371904.1(APOA5):c.281G>A (p.Arg94Gln)	APOA5 (R94Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1795279	NM_001371904.1(APOA5):c.272G>A (p.Gly91Asp)	APOA5 (G91D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794670	NM_001371904.1(APOA5):c.267G>A (p.Pro89=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1792194	NM_001371904.1(APOA5):c.249T>C (p.Pro83=)	APOA5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1783579	NM_001371904.1(APOA5):c.196A>G (p.Asn66Asp)	APOA5 (N66D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1778113	NM_001371904.1(APOA5):c.168G>C (p.Leu56=)	APOA5, LOC108491825	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1776373	NM_001371904.1(APOA5):c.161+3G>A	APOA5, LOC108491825	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1775043	NM_001371904.1(APOA5):c.1044G>A (p.Trp348Ter)	APOA5 (W348*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1775030	NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)	APOA5, LOC108491825 (E52*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic

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