ClinVar for MedGen (Select 309962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359085	NM_000384.3(APOB):c.12784_12787del (p.Lys4261_Leu4262insTer)	APOB	Deletion (nonsense)	Hypercholesterolemia, autosomal dominant, type B	GPathogenic
Select item 3358994	NM_000384.3(APOB):c.12910C>T (p.Gln4304Ter)	APOB (Q4304*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B	GLikely pathogenic
Select item 3247423	NC_000002.11:g.(?_21224602)_(21266817_?)del	APOB	Deletion	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 3236789	NM_000384.3(APOB):c.12797dup (p.Ser4267fs)	APOB (S4267fs)	Duplication (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B	GPathogenic
Select item 3073733	NM_000384.3(APOB):c.10582T>C (p.Ser3528Pro)	APOB (S3528P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B	GUncertain significance
Select item 3069184	NM_000384.3(APOB):c.7765G>T (p.Glu2589Ter)	APOB (E2589*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B	GLikely pathogenic
Select item 2954477	NM_000384.3(APOB):c.8944A>C (p.Asn2982His)	APOB (N2982H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2954264	NM_000384.3(APOB):c.4007A>G (p.Gln1336Arg)	APOB (Q1336R)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2954263	NM_000384.3(APOB):c.10839C>G (p.Phe3613Leu)	APOB (F3613L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953916	NM_000384.3(APOB):c.6366T>C (p.Ala2122=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953901	NM_000384.3(APOB):c.11789-18A>C	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953686	NM_000384.3(APOB):c.10242G>A (p.Val3414=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953602	NM_000384.3(APOB):c.3180G>T (p.Leu1060Phe)	APOB (L1060F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953583	NM_000384.3(APOB):c.13299T>G (p.Thr4433=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953537	NM_000384.3(APOB):c.1352+17T>A	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953501	NM_000384.3(APOB):c.5352T>C (p.Val1784=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953498	NM_000384.3(APOB):c.1038T>G (p.Asn346Lys)	APOB (N346K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2953480	NM_000384.3(APOB):c.1584C>T (p.Ile528=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953477	NM_000384.3(APOB):c.6760A>T (p.Thr2254Ser)	APOB (T2254S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2953450	NM_000384.3(APOB):c.3342A>G (p.Thr1114=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953383	NM_000384.3(APOB):c.2640T>A (p.Ser880=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 2953340	NM_000384.3(APOB):c.5794C>T (p.Leu1932=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2953191	NM_000384.3(APOB):c.10577del (p.Thr3526fs)	APOB (T3526fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2953129	NM_000384.3(APOB):c.11269C>T (p.Gln3757Ter)	APOB (Q3757*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2953084	NM_000384.3(APOB):c.2683G>A (p.Ala895Thr)	APOB (A895T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2952809	NM_000384.3(APOB):c.3000-8G>C	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2952752	NM_000384.3(APOB):c.4379C>G (p.Ser1460Cys)	APOB (S1460C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952751	NM_000384.3(APOB):c.10051A>G (p.Asn3351Asp)	APOB (N3351D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952681	NM_000384.3(APOB):c.1377G>C (p.Gly459=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2952401	NM_000384.3(APOB):c.2816+5T>G	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952375	NM_000384.3(APOB):c.18_27delinsT (p.9_11LAL[1])	APOB, LOC106560211	Indel (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 2952362	NM_000384.3(APOB):c.12766G>C (p.Glu4256Gln)	APOB (E4256Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952326	NM_000384.3(APOB):c.522G>A (p.Lys174=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2952284	NM_000384.3(APOB):c.3923G>A (p.Arg1308Lys)	APOB (R1308K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952196	NM_000384.3(APOB):c.5569_5570delinsTT (p.Ala1857Phe)	APOB (A1857F)	Indel (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2952141	NM_000384.3(APOB):c.12087+19G>A	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2952014	NM_000384.3(APOB):c.8319A>C (p.Ala2773=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2951697	NM_000384.3(APOB):c.9336G>T (p.Glu3112Asp)	APOB (E3112D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2951661	NM_000384.3(APOB):c.2960_2961del (p.Thr987fs)	APOB (T987fs)	Microsatellite (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2951594	NM_000384.3(APOB):c.1091C>T (p.Thr364Ile)	APOB (T364I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2951482	NM_000384.3(APOB):c.9111T>A (p.Leu3037=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2951310	NM_000384.3(APOB):c.3508+18T>C	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2951231	NM_000384.3(APOB):c.4398T>C (p.Ser1466=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2951076	NM_000384.3(APOB):c.1787A>T (p.His596Leu)	APOB (H596L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 2951059	NM_000384.3(APOB):c.3979G>T (p.Gly1327Ter)	APOB (G1327*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2950826	NM_000384.3(APOB):c.12333T>C (p.Asn4111=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950807	NM_000384.3(APOB):c.9639C>G (p.Asn3213Lys)	APOB (N3213K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GBenign
Select item 2950727	NM_000384.3(APOB):c.12885G>C (p.Val4295=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950563	NM_000384.3(APOB):c.13627C>T (p.Gln4543Ter)	APOB, APOB3'MAR (Q4543*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2950452	NM_000384.3(APOB):c.3696+17C>T	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950369	NM_000384.3(APOB):c.1353-7T>A	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950365	NM_000384.3(APOB):c.647A>G (p.Lys216Arg)	APOB (K216R)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950356	NM_000384.3(APOB):c.297G>C (p.Leu99=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2950253	NM_000384.3(APOB):c.6315T>C (p.Asp2105=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949955	NM_000384.3(APOB):c.225G>A (p.Arg75=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949792	NM_000384.3(APOB):c.12501C>G (p.Leu4167=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949743	NM_000384.3(APOB):c.7363C>T (p.Gln2455Ter)	APOB (Q2455*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2949732	NM_000384.3(APOB):c.7116_7135del (p.Thr2373fs)	APOB (T2373fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2949705	NM_000384.3(APOB):c.7470C>G (p.Thr2490=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949687	NM_000384.3(APOB):c.5955C>G (p.Thr1985=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949614	NM_000384.3(APOB):c.4927G>A (p.Ala1643Thr)	APOB (A1643T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949610	NM_000384.3(APOB):c.741_745del (p.Thr248fs)	APOB (T248fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2949575	NM_000384.3(APOB):c.6249G>A (p.Arg2083=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949375	NM_000384.3(APOB):c.7833C>T (p.Thr2611=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949329	NM_000384.3(APOB):c.4100A>G (p.Tyr1367Cys)	APOB (Y1367C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2949308	NM_000384.3(APOB):c.2437-6C>T	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949174	NM_000384.3(APOB):c.11100G>A (p.Gln3700=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2949042	NM_000384.3(APOB):c.12811G>C (p.Glu4271Gln)	APOB (E4271Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948922	NM_000384.3(APOB):c.9877C>A (p.Pro3293Thr)	APOB (P3293T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2948909	NM_000384.3(APOB):c.8811A>C (p.Ser2937=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948824	NM_000384.3(APOB):c.7593A>T (p.Glu2531Asp)	APOB (E2531D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2948775	NM_000384.3(APOB):c.147C>A (p.Leu49=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948702	NM_000384.3(APOB):c.3332+13G>A	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948665	NM_000384.3(APOB):c.7380A>G (p.Pro2460=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948657	NM_000384.3(APOB):c.7372G>A (p.Glu2458Lys)	APOB (E2458K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948655	NM_000384.3(APOB):c.7433C>T (p.Ala2478Val)	APOB (A2478V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2948620	NM_000384.3(APOB):c.11590A>G (p.Ile3864Val)	APOB (I3864V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2948584	NM_000384.3(APOB):c.3330A>G (p.Leu1110=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948441	NM_000384.3(APOB):c.9606dup (p.Ser3203fs)	APOB (S3203fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2948412	NM_000384.3(APOB):c.6048C>T (p.Asp2016=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2948178	NM_000384.3(APOB):c.9291del (p.Lys3097fs)	APOB (K3097fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2948009	NM_000384.3(APOB):c.12088-15_12088-13del	APOB	Deletion (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GBenign
Select item 2947953	NM_000384.3(APOB):c.11312A>G (p.Tyr3771Cys)	APOB (Y3771C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947952	NM_000384.3(APOB):c.3077A>G (p.Asp1026Gly)	APOB (D1026G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947921	NM_000384.3(APOB):c.992A>G (p.Glu331Gly)	APOB (E331G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947829	NM_000384.3(APOB):c.5429A>G (p.Asn1810Ser)	APOB (N1810S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947682	NM_000384.3(APOB):c.2601C>G (p.Ala867=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947661	NM_000384.3(APOB):c.7751G>T (p.Gly2584Val)	APOB (G2584V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2947512	NM_000384.3(APOB):c.1618-4G>A	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947481	NM_000384.3(APOB):c.4881T>C (p.Asn1627=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947464	NM_000384.3(APOB):c.7630A>T (p.Ser2544Cys)	APOB (S2544C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2947410	NM_000384.3(APOB):c.7904A>G (p.Asp2635Gly)	APOB (D2635G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947359	NM_000384.3(APOB):c.9176G>C (p.Arg3059Pro)	APOB (R3059P)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2947261	NM_000384.3(APOB):c.9183A>T (p.Pro3061=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947134	NM_000384.3(APOB):c.3925G>C (p.Asp1309His)	APOB (D1309H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2947082	NM_000384.3(APOB):c.7902A>T (p.Lys2634Asn)	APOB (K2634N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2947037	NM_000384.3(APOB):c.196G>C (p.Gly66Arg)	APOB, LOC106560211 (G66R)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2947013	NM_000384.3(APOB):c.10435C>A (p.His3479Asn)	APOB (H3479N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2946986	NM_000384.3(APOB):c.7665T>A (p.Thr2555=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2946961	NM_000384.3(APOB):c.7888C>A (p.Gln2630Lys)	APOB (Q2630K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign

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