APOB[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16855251.	NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs) GRCh37: Chr2:21224901-21224902 GRCh38: Chr2:21002029-21002030	APOB	K4465fs	Hypercholesterolemia, autosomal dominant, type B	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 4405052.	NM_000384.3(APOB):c.13220T>C (p.Ile4407Thr) GRCh37: Chr2:21225074 GRCh38: Chr2:21002202	APOB	I4407T	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 2658953.	NM_000384.3(APOB):c.13158del (p.Glu4387fs) GRCh37: Chr2:21225136 GRCh38: Chr2:21002264	APOB	E4387fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 4405084.	NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro) GRCh37: Chr2:21225143 GRCh38: Chr2:21002271	APOB	L4384P	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 4405095.	NM_000384.3(APOB):c.13135C>T (p.Gln4379Ter) GRCh37: Chr2:21225159 GRCh38: Chr2:21002287	APOB	Q4379*	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 4405106.	NM_000384.3(APOB):c.13129_13130del (p.Ile4377fs) GRCh37: Chr2:21225164-21225165 GRCh38: Chr2:21002292-21002293	APOB	I4377fs	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 4405127.	NM_000384.3(APOB):c.13114C>T (p.Gln4372Ter) GRCh37: Chr2:21225180 GRCh38: Chr2:21002308	APOB	Q4372*	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 2102228.	NM_000384.3(APOB):c.13025del (p.Pro4342fs) GRCh37: Chr2:21225269 GRCh38: Chr2:21002397	APOB	P4342fs	Hypobetalipoproteinemia	Likely pathogenic (Aug 20, 2014)	criteria provided, single submitter
Select item 13300719.	NM_000384.3(APOB):c.13020T>G (p.Tyr4340Ter) GRCh37: Chr2:21225274 GRCh38: Chr2:21002402	APOB	Y4340*	not specified	Likely pathogenic (Jan 27, 2021)	criteria provided, single submitter
Select item 170191910.	NM_000384.3(APOB):c.12578dup (p.Ile4194fs) GRCh37: Chr2:21225715-21225716 GRCh38: Chr2:21002843-21002844	APOB	I4194fs	Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 1788511.	NM_000384.3(APOB):c.12181del (p.Glu4061fs) GRCh37: Chr2:21226113 GRCh38: Chr2:21003241	APOB	E4061fs	Familial hypobetalipoproteinemia	Pathogenic (Aug 1, 1992)	no assertion criteria provided
Select item 1788812.	NM_000384.2(APOB):c.11905del GRCh37: Chr2:21227323 GRCh38: Chr2:21004451	APOB		Familial hypobetalipoproteinemia	Pathogenic (Sep 1, 1996)	no assertion criteria provided
Select item 43425113.	NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs) GRCh37: Chr2:21227523-21227524 GRCh38: Chr2:21004651-21004652	APOB	D3938fs	Hypobetalipoproteinemia	Likely pathogenic (Jan 19, 2016)	criteria provided, single submitter
Select item 58045114.	NM_000384.3(APOB):c.11789-1G>C GRCh37: Chr2:21227548 GRCh38: Chr2:21004676	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely pathogenic (May 3, 2018)	criteria provided, single submitter
Select item 43150215.	NM_000384.3(APOB):c.11789-2A>C GRCh37: Chr2:21227549 GRCh38: Chr2:21004677	APOB		Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 95101116.	NM_000384.3(APOB):c.11764C>T (p.Gln3922Ter) GRCh37: Chr2:21227976 GRCh38: Chr2:21005104	APOB	Q3922*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jul 24, 2019)	criteria provided, single submitter
Select item 141613617.	NM_000384.3(APOB):c.11532del (p.Asn3845fs) GRCh37: Chr2:21228208 GRCh38: Chr2:21005336	APOB	N3845fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 143282518.	NM_000384.3(APOB):c.11465del (p.Val3822fs) GRCh37: Chr2:21228275 GRCh38: Chr2:21005403	APOB	V3822fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jan 7, 2021)	criteria provided, single submitter
Select item 129958619.	NM_000384.3(APOB):c.11397del (p.Lys3799fs) GRCh37: Chr2:21228343 GRCh38: Chr2:21005471	APOB	K3799fs	Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 170496320.	NM_000384.3(APOB):c.11330C>A (p.Ser3777Ter) GRCh37: Chr2:21228410 GRCh38: Chr2:21005538	APOB	S3777*	not provided	Pathogenic (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93923721.	NM_000384.3(APOB):c.11060_11061delinsAA (p.Phe3687Ter) GRCh37: Chr2:21228679-21228680 GRCh38: Chr2:21005807-21005808	APOB	F3687*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jul 26, 2019)	criteria provided, single submitter
Select item 209451322.	NM_000384.3(APOB):c.11060del (p.Phe3687fs) GRCh37: Chr2:21228680 GRCh38: Chr2:21005808	APOB	F3687fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 132332523.	NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) GRCh37: Chr2:21228700 GRCh38: Chr2:21005828	APOB	Y3680*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic/Likely pathogenic (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44051624.	NM_000384.3(APOB):c.10768G>A (p.Glu3590Lys) GRCh37: Chr2:21228972 GRCh38: Chr2:21006100	APOB	E3590K	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 44052225.	NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) GRCh37: Chr2:21229107 GRCh38: Chr2:21006235	APOB	E3545*	Familial hypobetalipoproteinemia	Pathogenic	no assertion criteria provided
Select item 44052326.	NM_000384.3(APOB):c.10580G>T (p.Arg3527Leu) GRCh37: Chr2:21229160 GRCh38: Chr2:21006288	APOB	R3527L	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 145495627.	NM_000384.3(APOB):c.10327G>T (p.Glu3443Ter) GRCh37: Chr2:21229413 GRCh38: Chr2:21006541	APOB	E3443*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Nov 30, 2021)	criteria provided, single submitter
Select item 43425228.	NM_000384.3(APOB):c.10238del (p.Thr3413fs) GRCh37: Chr2:21229502 GRCh38: Chr2:21006630	APOB	T3413fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1, Hypobetalipoproteinemia, not provided	Pathogenic/Likely pathogenic (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18027829.	NM_000384.3(APOB):c.10187C>A (p.Ala3396Asp) GRCh37: Chr2:21229553 GRCh38: Chr2:21006681	APOB	A3396D	Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic (Jun 16, 2014)	no assertion criteria provided
Select item 44401030.	NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr) GRCh37: Chr2:21229554 GRCh38: Chr2:21006682	APOB	A3396T	Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic (Oct 19, 2017)	no assertion criteria provided
Select item 208423831.	NM_000384.3(APOB):c.10182G>C (p.Lys3394Asn) GRCh37: Chr2:21229558 GRCh38: Chr2:21006686	APOB	K3394N	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 43831032.	NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) GRCh37: Chr2:21229558 GRCh38: Chr2:21006686	APOB	K3394N	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104627033.	NM_000384.3(APOB):c.10181A>C (p.Lys3394Thr) GRCh37: Chr2:21229559 GRCh38: Chr2:21006687	APOB	K3394T	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 91784434.	NM_000384.3(APOB):c.10171del (p.Arg3391fs) GRCh37: Chr2:21229569 GRCh38: Chr2:21006697	APOB	R3391fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jun 2, 2021)	criteria provided, single submitter
Select item 140695135.	NM_000384.3(APOB):c.9960del (p.Phe3320fs) GRCh37: Chr2:21229780 GRCh38: Chr2:21006908	APOB	F3320fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Dec 28, 2020)	criteria provided, single submitter
Select item 98279236.	NM_000384.3(APOB):c.9706G>T (p.Glu3236Ter) GRCh37: Chr2:21230034 GRCh38: Chr2:21007162	APOB	E3236*	Hypercholesterolemia, autosomal dominant, type B	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 167879737.	NM_000384.3(APOB):c.9632dup (p.Asn3211fs) GRCh37: Chr2:21230107-21230108 GRCh38: Chr2:21007235-21007236	APOB	N3211fs	not provided, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic/Likely pathogenic (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106882438.	NM_000384.3(APOB):c.9615del (p.Asp3205fs) GRCh37: Chr2:21230125 GRCh38: Chr2:21007253	APOB	D3205fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Mar 22, 2020)	criteria provided, single submitter
Select item 23775439.	NM_000384.3(APOB):c.9523del (p.Ala3175fs) GRCh37: Chr2:21230217 GRCh38: Chr2:21007345	APOB	A3175fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1	Pathogenic (Jun 18, 2016)	criteria provided, single submitter
Select item 171310340.	NM_000384.3(APOB):c.9316AAC[1] (p.Asn3107del) GRCh37: Chr2:21230419-21230421 GRCh38: Chr2:21007547-21007549	APOB	N3107del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 1789241.	NM_000384.3(APOB):c.9200del (p.Lys3067fs) GRCh37: Chr2:21230540 GRCh38: Chr2:21007668	APOB	K3067fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Sep 27, 2021)	criteria provided, single submitter
Select item 85309942.	NM_000384.3(APOB):c.9180dup (p.Pro3061fs) GRCh37: Chr2:21230559-21230560 GRCh38: Chr2:21007687-21007688	APOB	P3061fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Mar 5, 2019)	criteria provided, single submitter
Select item 168552643.	NM_000384.3(APOB):c.9152_9155del (p.Asn3051fs) GRCh37: Chr2:21230585-21230588 GRCh38: Chr2:21007713-21007716	APOB	N3051fs	Hypercholesterolemia, autosomal dominant, type B	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 54407644.	NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) GRCh37: Chr2:21230621-21230625 GRCh38: Chr2:21007749-21007753	APOB	F3039fs	not provided, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1	Pathogenic/Likely pathogenic (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 204498945.	NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs) GRCh37: Chr2:21231000-21231001 GRCh38: Chr2:21008128-21008129	APOB	L2914fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 107154646.	NM_000384.3(APOB):c.8594dup (p.Asn2865fs) GRCh37: Chr2:21231145-21231146 GRCh38: Chr2:21008273-21008274	APOB	N2865fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jul 21, 2017)	criteria provided, single submitter
Select item 145578247.	NM_000384.3(APOB):c.8528_8531dup (p.Phe2845fs) GRCh37: Chr2:21231208-21231209 GRCh38: Chr2:21008336-21008337	APOB	F2845fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Aug 18, 2021)	criteria provided, single submitter
Select item 84325948.	NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter) GRCh37: Chr2:21231348 GRCh38: Chr2:21008476	APOB	E2798*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, not provided	Pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136465449.	NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs) GRCh37: Chr2:21231663-21231664 GRCh38: Chr2:21008791-21008792	APOB	L2693fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jul 4, 2021)	criteria provided, single submitter
Select item 145316450.	NM_000384.3(APOB):c.7966_7969del (p.Phe2656fs) GRCh37: Chr2:21231771-21231774 GRCh38: Chr2:21008899-21008902	APOB	F2656fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Nov 11, 2020)	criteria provided, single submitter
Select item 191476851.	NM_000384.3(APOB):c.7861del (p.Pro2620_Leu2621insTer) GRCh37: Chr2:21231879 GRCh38: Chr2:21009007	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 52409352.	NM_000384.3(APOB):c.7851del (p.Phe2617fs) GRCh37: Chr2:21231889 GRCh38: Chr2:21009017	APOB	F2617fs	not provided	Likely pathogenic (Apr 10, 2018)	criteria provided, single submitter
Select item 171295853.	NM_000384.3(APOB):c.7785dup (p.Thr2596fs) GRCh37: Chr2:21231954-21231955 GRCh38: Chr2:21009082-21009083	APOB	T2596fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 145641554.	NM_000384.3(APOB):c.7704T>G (p.Tyr2568Ter) GRCh37: Chr2:21232036 GRCh38: Chr2:21009164	APOB	Y2568*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Oct 4, 2021)	criteria provided, single submitter
Select item 107040655.	NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter) GRCh37: Chr2:21232041 GRCh38: Chr2:21009169	APOB	Q2567*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Mar 21, 2020)	criteria provided, single submitter
Select item 54407156.	NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) GRCh37: Chr2:21232135 GRCh38: Chr2:21009263	APOB	Y2535*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Dec 7, 2017)	criteria provided, single submitter
Select item 198378457.	NM_000384.3(APOB):c.7558C>T (p.Arg2520Ter) GRCh37: Chr2:21232182 GRCh38: Chr2:21009310	APOB	R2520*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 6951158.	NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) GRCh37: Chr2:21232203 GRCh38: Chr2:21009331	APOB	R2513*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138629159.	NM_000384.3(APOB):c.7489C>T (p.Gln2497Ter) GRCh37: Chr2:21232251 GRCh38: Chr2:21009379	APOB	Q2497*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jul 20, 2021)	criteria provided, single submitter
Select item 95057760.	NM_000384.3(APOB):c.7403del (p.Leu2468fs) GRCh37: Chr2:21232337 GRCh38: Chr2:21009465	APOB	L2468fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jul 4, 2019)	criteria provided, single submitter
Select item 97830161.	NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs) GRCh37: Chr2:21232591-21232592 GRCh38: Chr2:21009719-21009720	APOB	Q2383fs	Hypercholesterolemia, familial, 1	Likely pathogenic (Sep 5, 2019)	criteria provided, single submitter
Select item 1789362.	NM_000384.3(APOB):c.6835C>T (p.Gln2279Ter) GRCh37: Chr2:21232905 GRCh38: Chr2:21010033	APOB	Q2279*	Familial hypobetalipoproteinemia 1	Pathogenic (Jul 1, 2005)	no assertion criteria provided
Select item 199165163.	NM_000384.3(APOB):c.6799C>T (p.Gln2267Ter) GRCh37: Chr2:21232941 GRCh38: Chr2:21010069	APOB	Q2267*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (May 30, 2021)	criteria provided, single submitter
Select item 180386664.	NM_000384.3(APOB):c.6673dup (p.Thr2225fs) GRCh37: Chr2:21233066-21233067 GRCh38: Chr2:21010194-21010195	APOB	T2225fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 220211165.	NM_000384.3(APOB):c.6567T>A (p.Tyr2189Ter) GRCh37: Chr2:21233173 GRCh38: Chr2:21010301	APOB	Y2189*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 56969966.	NM_000384.3(APOB):c.6543del (p.Phe2181fs) GRCh37: Chr2:21233197 GRCh38: Chr2:21010325	APOB	F2181fs	not provided, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic/Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193925167.	NM_000384.3(APOB):c.6540del (p.Gln2180fs) GRCh37: Chr2:21233200 GRCh38: Chr2:21010328	APOB	Q2180fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 107065968.	NM_000384.3(APOB):c.6403del (p.Val2135fs) GRCh37: Chr2:21233337 GRCh38: Chr2:21010465	APOB	V2135fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jun 10, 2020)	criteria provided, single submitter
Select item 213094369.	NM_000384.3(APOB):c.6330del (p.Lys2110fs) GRCh37: Chr2:21233410 GRCh38: Chr2:21010538	APOB	K2110fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 171302070.	NM_000384.3(APOB):c.6181G>T (p.Asp2061Tyr) GRCh37: Chr2:21233559 GRCh38: Chr2:21010687	APOB	D2061Y	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 93076971.	NM_000384.3(APOB):c.5893G>T (p.Glu1965Ter) GRCh37: Chr2:21233847 GRCh38: Chr2:21010975	APOB	E1965*	Familial hypobetalipoproteinemia 1	Likely pathogenic (Jul 10, 2019)	criteria provided, single submitter
Select item 171293272.	NM_000384.3(APOB):c.5608_5609insGCGATGTCTGTGTTGAGCCGATGGCTAAACT (p.Thr1870fs) GRCh37: Chr2:21234131-21234132 GRCh38: Chr2:21011259-21011260	APOB	T1870fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171293373.	NM_000384.3(APOB):c.5606_5607insGCCAGCC (p.Asn1869fs) GRCh37: Chr2:21234133-21234134 GRCh38: Chr2:21011261-21011262	APOB	N1869fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 180971074.	NM_000384.3(APOB):c.5516T>C (p.Ile1839Thr) GRCh37: Chr2:21234224 GRCh38: Chr2:21011352	APOB	I1839T	Familial hypercholesterolemia	Likely pathogenic (Jan 18, 2022)	no assertion criteria provided
Select item 1788275.	NM_000384.3(APOB):c.5463del (p.His1822fs) GRCh37: Chr2:21234277 GRCh38: Chr2:21011405	APOB	H1822fs	Familial hypobetalipoproteinemia	Pathogenic (Sep 12, 1988)	no assertion criteria provided
Select item 1788176.	NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) GRCh37: Chr2:21234474-21234477 GRCh38: Chr2:21011602-21011605	APOB	N1755fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44052477.	NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) GRCh37: Chr2:21234502 GRCh38: Chr2:21011630	APOB	Y1746*	Familial hypobetalipoproteinemia	Pathogenic	no assertion criteria provided
Select item 40440978.	NM_000384.3(APOB):c.5116dup (p.Thr1706fs) GRCh37: Chr2:21234623-21234624 GRCh38: Chr2:21011751-21011752	APOB	T1706fs	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Jul 31, 2016)	criteria provided, single submitter
Select item 132336079.	NM_000384.3(APOB):c.4991del (p.Leu1664fs) GRCh37: Chr2:21234749 GRCh38: Chr2:21011877	APOB	L1664fs	not provided	Pathogenic (Dec 17, 2020)	criteria provided, single submitter
Select item 43149980.	NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter) GRCh37: Chr2:21235089 GRCh38: Chr2:21012217	APOB	Q1551*	Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43149881.	NM_000384.3(APOB):c.4590del (p.Asn1531fs) GRCh37: Chr2:21235150 GRCh38: Chr2:21012278	APOB	N1531fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 82763782.	NM_000384.3(APOB):c.4571C>T (p.Ser1524Phe) GRCh37: Chr2:21235169 GRCh38: Chr2:21012297	APOB	S1524F	Familial hypobetalipoproteinemia 1	Likely pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 62021683.	NM_000384.3(APOB):c.4471A>T (p.Arg1491Ter) GRCh37: Chr2:21235269 GRCh38: Chr2:21012397	APOB	R1491*	not provided	Likely pathogenic (May 31, 2018)	criteria provided, single submitter
Select item 1789484.	NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) GRCh37: Chr2:21235311 GRCh38: Chr2:21012439	APOB	Q1477*	Familial hypobetalipoproteinemia	Pathogenic (Apr 14, 1992)	no assertion criteria provided
Select item 1788985.	NM_000384.3(APOB):c.4352del (p.Gly1451fs) GRCh37: Chr2:21235388 GRCh38: Chr2:21012516	APOB	G1451fs	Familial hypobetalipoproteinemia	Pathogenic (Mar 1, 1990)	no assertion criteria provided
Select item 47778486.	NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) GRCh37: Chr2:21236159 GRCh38: Chr2:21013287	APOB	Y1363*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 44052587.	NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) GRCh37: Chr2:21236159 GRCh38: Chr2:21013287	APOB	Y1363*	Familial hypobetalipoproteinemia	Pathogenic	no assertion criteria provided
Select item 1788388.	NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) GRCh37: Chr2:21236251 GRCh38: Chr2:21013379	APOB	R1333*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Nov 11, 2021)	criteria provided, single submitter
Select item 145800589.	NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter) GRCh37: Chr2:21237384 GRCh38: Chr2:21014512	APOB	E1260*	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 44052690.	NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) GRCh37: Chr2:21238016-21238027 GRCh38: Chr2:21015144-21015155	APOB		Familial hypobetalipoproteinemia	Pathogenic	no assertion criteria provided
Select item 1790191.	NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter) GRCh37: Chr2:21238041 GRCh38: Chr2:21015169	APOB	Y1200*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 97672692.	NM_000384.3(APOB):c.3562A>T (p.Lys1188Ter) GRCh37: Chr2:21238079 GRCh38: Chr2:21015207	APOB	K1188*	Hypercholesterolemia, autosomal dominant, type B	Pathogenic (Jun 16, 2020)	criteria provided, single submitter
Select item 132331993.	NM_000384.3(APOB):c.3511G>T (p.Glu1171Ter) GRCh37: Chr2:21238130 GRCh38: Chr2:21015258	APOB	E1171*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 149495194.	NM_000384.3(APOB):c.3508+1G>T GRCh37: Chr2:21238241 GRCh38: Chr2:21015369	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 146878995.	NM_000384.3(APOB):c.3508+1G>A GRCh37: Chr2:21238241 GRCh38: Chr2:21015369	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 210063996.	NM_000384.3(APOB):c.3342_3345del (p.Glu1116fs) GRCh37: Chr2:21238405-21238408 GRCh38: Chr2:21015533-21015536	APOB	E1116fs	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 43149497.	NM_000384.3(APOB):c.3012del (p.Glu1004fs) GRCh37: Chr2:21241973 GRCh38: Chr2:21019101	APOB	E1004fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 132392098.	NM_000384.3(APOB):c.2999+1G>A GRCh37: Chr2:21242594 GRCh38: Chr2:21019722	APOB		not provided	Likely pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 37425599.	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs) GRCh37: Chr2:21242600-21242606 GRCh38: Chr2:21019728-21019734	APOB	G997fs	Hypobetalipoproteinemia	Likely pathogenic (Jun 10, 2018)	criteria provided, single submitter
Select item 1369494100.	NM_000384.3(APOB):c.2979T>A (p.Tyr993Ter) GRCh37: Chr2:21242615 GRCh38: Chr2:21019743	APOB	Y993*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (May 13, 2021)	criteria provided, single submitter

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