ClinVar for MedGen (Select 309962) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022541.	NM_000384.3(APOB):c.10955A>G (p.Asn3652Ser) GRCh37: Chr2:21228785 GRCh38: Chr2:21005913	APOB	N3652S	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 25022482.	NM_000384.3(APOB):c.5898C>A (p.His1966Gln) GRCh37: Chr2:21233842 GRCh38: Chr2:21010970	APOB	H1966Q	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 25021813.	NM_000384.3(APOB):c.10460C>T (p.Thr3487Ile) GRCh37: Chr2:21229280 GRCh38: Chr2:21006408	APOB	T3487I	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 25021764.	NM_000384.3(APOB):c.4097T>C (p.Leu1366Ser) GRCh37: Chr2:21236151 GRCh38: Chr2:21013279	APOB	L1366S	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 25021735.	NM_000384.3(APOB):c.13029T>A (p.Tyr4343Ter) GRCh37: Chr2:21225265 GRCh38: Chr2:21002393	APOB	Y4343*	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 25021526.	NM_000384.3(APOB):c.6752A>G (p.Asn2251Ser) GRCh37: Chr2:21232988 GRCh38: Chr2:21010116	APOB	N2251S	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 24281427.	NM_000384.3(APOB):c.10835A>G (p.Asp3612Gly) GRCh37: Chr2:21228905 GRCh38: Chr2:21006033	APOB	D3612G	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 24229968.	NC_000002.11:g.(?_21224602)_(21266817_?)dup GRCh37: Chr2:21224602-21266817	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 24210969.	NM_000384.3(APOB):c.71G>A (p.Gly24Asp) GRCh37: Chr2:21266747 GRCh38: Chr2:21043875	APOB, LOC106560211	G24D	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 242084810.	NM_000384.3(APOB):c.4812T>C (p.Ala1604=) GRCh37: Chr2:21234928 GRCh38: Chr2:21012056	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 241869611.	NM_000384.3(APOB):c.593A>G (p.Asn198Ser) GRCh37: Chr2:21260072 GRCh38: Chr2:21037200	APOB	N198S	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 241805412.	NM_000384.3(APOB):c.5517C>T (p.Ile1839=) GRCh37: Chr2:21234223 GRCh38: Chr2:21011351	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Jan 10, 2022)	criteria provided, single submitter
Select item 241781613.	NM_000384.3(APOB):c.7601G>A (p.Arg2534Gln) GRCh37: Chr2:21232139 GRCh38: Chr2:21009267	APOB	R2534Q	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 241649914.	NM_000384.3(APOB):c.4272G>T (p.Gly1424=) GRCh37: Chr2:21235468 GRCh38: Chr2:21012596	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 220302215.	NM_000384.3(APOB):c.1471-1G>A GRCh37: Chr2:21252658 GRCh38: Chr2:21029786	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 220211116.	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 220208017.	NM_000384.3(APOB):c.3093T>C (p.Asp1031=) GRCh37: Chr2:21241892 GRCh38: Chr2:21019020	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 220138118.	NM_000384.3(APOB):c.1905G>T (p.Arg635=) GRCh37: Chr2:21250862 GRCh38: Chr2:21027990	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 220009819.	NM_000384.3(APOB):c.21G>A (p.Ala7=) GRCh37: Chr2:21266797 GRCh38: Chr2:21043925	APOB, LOC106560211		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 219908720.	NM_000384.3(APOB):c.874C>T (p.Pro292Ser) GRCh37: Chr2:21257718 GRCh38: Chr2:21034846	APOB	P292S	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 219813121.	NM_000384.3(APOB):c.1618-6C>A GRCh37: Chr2:21251416 GRCh38: Chr2:21028544	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 219794122.	NM_000384.3(APOB):c.2796A>G (p.Pro932=) GRCh37: Chr2:21245723 GRCh38: Chr2:21022851	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 219719723.	NM_000384.3(APOB):c.1058C>T (p.Thr353Ile) GRCh37: Chr2:21256237 GRCh38: Chr2:21033365	APOB	T353I	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 219574924.	NM_000384.3(APOB):c.7434A>T (p.Ala2478=) GRCh37: Chr2:21232306 GRCh38: Chr2:21009434	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 219482625.	NM_000384.3(APOB):c.2928C>T (p.Cys976=) GRCh37: Chr2:21242666 GRCh38: Chr2:21019794	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 219375526.	NM_000384.3(APOB):c.9386C>A (p.Pro3129His) GRCh37: Chr2:21230354 GRCh38: Chr2:21007482	APOB	P3129H	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 219359027.	NM_000384.3(APOB):c.6002C>A (p.Thr2001Asn) GRCh37: Chr2:21233738 GRCh38: Chr2:21010866	APOB	T2001N	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 219346128.	NM_000384.3(APOB):c.624C>A (p.Asp208Glu) GRCh37: Chr2:21260041 GRCh38: Chr2:21037169	APOB	D208E	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 219204729.	NM_000384.3(APOB):c.11736C>A (p.Val3912=) GRCh37: Chr2:21228004 GRCh38: Chr2:21005132	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 218978230.	NM_000384.3(APOB):c.12667G>A (p.Glu4223Lys) GRCh37: Chr2:21225627 GRCh38: Chr2:21002755	APOB	E4223K	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 218761231.	NM_000384.3(APOB):c.10363T>C (p.Ser3455Pro) GRCh37: Chr2:21229377 GRCh38: Chr2:21006505	APOB	S3455P	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 218680732.	NM_000384.3(APOB):c.9706G>A (p.Glu3236Lys) GRCh37: Chr2:21230034 GRCh38: Chr2:21007162	APOB	E3236K	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218570133.	NM_000384.3(APOB):c.12530G>A (p.Arg4177Gln) GRCh37: Chr2:21225764 GRCh38: Chr2:21002892	APOB	R4177Q	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 218444834.	NM_000384.3(APOB):c.5001G>A (p.Leu1667=) GRCh37: Chr2:21234739 GRCh38: Chr2:21011867	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 218419335.	NM_000384.3(APOB):c.4937G>A (p.Arg1646Lys) GRCh37: Chr2:21234803 GRCh38: Chr2:21011931	APOB	R1646K	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 218408536.	NM_000384.3(APOB):c.12135C>A (p.Val4045=) GRCh37: Chr2:21226159 GRCh38: Chr2:21003287	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 218396337.	NM_000384.3(APOB):c.2988C>A (p.Thr996=) GRCh37: Chr2:21242606 GRCh38: Chr2:21019734	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 218181738.	NM_000384.3(APOB):c.1606C>A (p.Pro536Thr) GRCh37: Chr2:21252522 GRCh38: Chr2:21029650	APOB	P536T	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 217983839.	NM_000384.3(APOB):c.9523G>C (p.Ala3175Pro) GRCh37: Chr2:21230217 GRCh38: Chr2:21007345	APOB	A3175P	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 217803840.	NM_000384.3(APOB):c.8813A>G (p.Asp2938Gly) GRCh37: Chr2:21230927 GRCh38: Chr2:21008055	APOB	D2938G	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 217783741.	NM_000384.3(APOB):c.7162G>C (p.Asp2388His) GRCh37: Chr2:21232578 GRCh38: Chr2:21009706	APOB	D2388H	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217731042.	NM_000384.3(APOB):c.8175T>C (p.Thr2725=) GRCh37: Chr2:21231565 GRCh38: Chr2:21008693	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 217703743.	NM_000384.3(APOB):c.4866T>C (p.His1622=) GRCh37: Chr2:21234874 GRCh38: Chr2:21012002	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 217374444.	NM_000384.3(APOB):c.9872G>A (p.Arg3291His) GRCh37: Chr2:21229868 GRCh38: Chr2:21006996	APOB	R3291H	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 217336845.	NM_000384.3(APOB):c.3250A>G (p.Thr1084Ala) GRCh37: Chr2:21239393 GRCh38: Chr2:21016521	APOB	T1084A	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 217139546.	NM_000384.3(APOB):c.6548A>T (p.Gln2183Leu) GRCh37: Chr2:21233192 GRCh38: Chr2:21010320	APOB	Q2183L	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217020947.	NM_000384.3(APOB):c.6063C>T (p.Asp2021=) GRCh37: Chr2:21233677 GRCh38: Chr2:21010805	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Cardiovascular phenotype	Benign/Likely benign (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216997348.	NM_000384.3(APOB):c.11740G>C (p.Asp3914His) GRCh37: Chr2:21228000 GRCh38: Chr2:21005128	APOB	D3914H	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 216983749.	NM_000384.3(APOB):c.8808C>T (p.Phe2936=) GRCh37: Chr2:21230932 GRCh38: Chr2:21008060	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 216792450.	NM_000384.3(APOB):c.3624T>A (p.Ala1208=) GRCh37: Chr2:21238017 GRCh38: Chr2:21015145	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 216592751.	NM_000384.3(APOB):c.4965T>C (p.Ser1655=) GRCh37: Chr2:21234775 GRCh38: Chr2:21011903	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 216423252.	NM_000384.3(APOB):c.10798G>T (p.Val3600Phe) GRCh37: Chr2:21228942 GRCh38: Chr2:21006070	APOB	V3600F	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216320453.	NM_000384.3(APOB):c.2505C>T (p.Ala835=) GRCh37: Chr2:21246496 GRCh38: Chr2:21023624	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 216267154.	NM_000384.3(APOB):c.5678G>T (p.Ser1893Ile) GRCh37: Chr2:21234062 GRCh38: Chr2:21011190	APOB	S1893I	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 216265855.	NM_000384.3(APOB):c.1352+8T>C GRCh37: Chr2:21255218 GRCh38: Chr2:21032346	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 216244956.	NM_000384.3(APOB):c.7523T>A (p.Met2508Lys) GRCh37: Chr2:21232217 GRCh38: Chr2:21009345	APOB	M2508K	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216188457.	NM_000384.3(APOB):c.9204A>C (p.Ile3068=) GRCh37: Chr2:21230536 GRCh38: Chr2:21007664	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 216147158.	NM_000384.3(APOB):c.5862C>A (p.Leu1954=) GRCh37: Chr2:21233878 GRCh38: Chr2:21011006	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 215967259.	NM_000384.3(APOB):c.134G>A (p.Arg45Gln) GRCh37: Chr2:21265336 GRCh38: Chr2:21042464	LOC106560211, APOB	R45Q	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 215841060.	NM_000384.3(APOB):c.1470+19A>G GRCh37: Chr2:21252751 GRCh38: Chr2:21029879	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 215738961.	NM_000384.3(APOB):c.9252A>G (p.Gln3084=) GRCh37: Chr2:21230488 GRCh38: Chr2:21007616	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Cardiovascular phenotype	Likely benign (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215692662.	NM_000384.3(APOB):c.8882A>T (p.Asn2961Ile) GRCh37: Chr2:21230858 GRCh38: Chr2:21007986	APOB	N2961I	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 215613863.	NM_000384.3(APOB):c.693+7C>T GRCh37: Chr2:21259965 GRCh38: Chr2:21037093	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 215592064.	NM_000384.3(APOB):c.7096C>T (p.His2366Tyr) GRCh37: Chr2:21232644 GRCh38: Chr2:21009772	APOB	H2366Y	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 215571665.	NM_000384.3(APOB):c.2304A>G (p.Lys768=) GRCh37: Chr2:21247937 GRCh38: Chr2:21025065	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215549166.	NM_000384.3(APOB):c.5002G>C (p.Glu1668Gln) GRCh37: Chr2:21234738 GRCh38: Chr2:21011866	APOB	E1668Q	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 215537467.	NM_000384.3(APOB):c.10783C>A (p.Gln3595Lys) GRCh37: Chr2:21228957 GRCh38: Chr2:21006085	APOB	Q3595K	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 215451368.	NM_000384.3(APOB):c.5472T>A (p.Ala1824=) GRCh37: Chr2:21234268 GRCh38: Chr2:21011396	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 215417769.	NM_000384.3(APOB):c.3867G>A (p.Leu1289=) GRCh37: Chr2:21236381 GRCh38: Chr2:21013509	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 215309970.	NM_000384.3(APOB):c.6303C>T (p.His2101=) GRCh37: Chr2:21233437 GRCh38: Chr2:21010565	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 215167771.	NM_000384.3(APOB):c.12780T>C (p.His4260=) GRCh37: Chr2:21225514 GRCh38: Chr2:21002642	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 215051672.	NM_000384.3(APOB):c.109C>T (p.Leu37=) GRCh37: Chr2:21266397 GRCh38: Chr2:21043525	APOB, LOC106560211		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 215019273.	NM_000384.3(APOB):c.7752G>T (p.Gly2584=) GRCh37: Chr2:21231988 GRCh38: Chr2:21009116	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 214965474.	NM_000384.3(APOB):c.8886G>A (p.Lys2962=) GRCh37: Chr2:21230854 GRCh38: Chr2:21007982	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 214954175.	NM_000384.3(APOB):c.11338G>T (p.Ala3780Ser) GRCh37: Chr2:21228402 GRCh38: Chr2:21005530	APOB	A3780S	Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 214832976.	NM_000384.3(APOB):c.6231G>A (p.Leu2077=) GRCh37: Chr2:21233509 GRCh38: Chr2:21010637	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 214755677.	NM_000384.3(APOB):c.9466A>G (p.Thr3156Ala) GRCh37: Chr2:21230274 GRCh38: Chr2:21007402	APOB	T3156A	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 214605278.	NM_000384.3(APOB):c.12378C>T (p.Ile4126=) GRCh37: Chr2:21225916 GRCh38: Chr2:21003044	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 214576879.	NM_000384.3(APOB):c.8348C>T (p.Ser2783Leu) GRCh37: Chr2:21231392 GRCh38: Chr2:21008520	APOB	S2783L	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 214541880.	NM_000384.3(APOB):c.12567G>A (p.Leu4189=) GRCh37: Chr2:21225727 GRCh38: Chr2:21002855	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Benign (Jun 9, 2022)	criteria provided, single submitter
Select item 214466481.	NM_000384.3(APOB):c.8946C>T (p.Asn2982=) GRCh37: Chr2:21230794 GRCh38: Chr2:21007922	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214252882.	NM_000384.3(APOB):c.10904A>C (p.Asn3635Thr) GRCh37: Chr2:21228836 GRCh38: Chr2:21005964	APOB	N3635T	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 214213983.	NM_000384.3(APOB):c.1207G>A (p.Ala403Thr) GRCh37: Chr2:21255371 GRCh38: Chr2:21032499	APOB	A403T	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 214180284.	NM_000384.3(APOB):c.13161A>G (p.Glu4387=) GRCh37: Chr2:21225133 GRCh38: Chr2:21002261	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 214130685.	NM_000384.3(APOB):c.6892T>A (p.Leu2298Ile) GRCh37: Chr2:21232848 GRCh38: Chr2:21009976	APOB	L2298I	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214075586.	NM_000384.3(APOB):c.9072T>C (p.His3024=) GRCh37: Chr2:21230668 GRCh38: Chr2:21007796	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 214008187.	NM_000384.3(APOB):c.13616T>C (p.Leu4539Pro) GRCh37: Chr2:21224678 GRCh38: Chr2:21001806	APOB3'MAR, APOB	L4539P	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 213738988.	NM_000384.3(APOB):c.3591C>T (p.Leu1197=) GRCh37: Chr2:21238050 GRCh38: Chr2:21015178	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 213731589.	NM_000384.3(APOB):c.1478G>A (p.Gly493Glu) GRCh37: Chr2:21252650 GRCh38: Chr2:21029778	APOB	G493E	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 213494290.	NM_000384.3(APOB):c.6678C>T (p.Ile2226=) GRCh37: Chr2:21233062 GRCh38: Chr2:21010190	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213444791.	NM_000384.3(APOB):c.82+2T>C GRCh37: Chr2:21266734 GRCh38: Chr2:21043862	APOB, LOC106560211		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 213094392.	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 212989493.	NM_000384.3(APOB):c.2833G>T (p.Val945Phe) GRCh37: Chr2:21242761 GRCh38: Chr2:21019889	APOB	V945F	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212454594.	NM_000384.3(APOB):c.6078G>T (p.Val2026=) GRCh37: Chr2:21233662 GRCh38: Chr2:21010790	APOB		Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211868395.	NM_000384.3(APOB):c.6336A>G (p.Arg2112=) GRCh37: Chr2:21233404 GRCh38: Chr2:21010532	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211697296.	NM_000384.3(APOB):c.10662C>T (p.Ala3554=) GRCh37: Chr2:21229078 GRCh38: Chr2:21006206	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211371397.	NM_000384.3(APOB):c.614C>T (p.Thr205Ile) GRCh37: Chr2:21260051 GRCh38: Chr2:21037179	APOB	T205I	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 211092898.	NM_000384.3(APOB):c.2671A>C (p.Ile891Leu) GRCh37: Chr2:21245848 GRCh38: Chr2:21022976	APOB	I891L	Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211091599.	NM_000384.3(APOB):c.11988C>A (p.Gly3996=) GRCh37: Chr2:21227240 GRCh38: Chr2:21004368	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 2108940100.	NM_000384.3(APOB):c.1099T>C (p.Leu367=) GRCh37: Chr2:21256196 GRCh38: Chr2:21033324	APOB		Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1	Likely benign (Mar 11, 2022)	criteria provided, single submitter

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