ClinVar for PubMed (Select 20032471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2951661	NM_000384.3(APOB):c.2960_2961del (p.Thr987fs)	APOB (T987fs)	Microsatellite (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
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 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 2949610	NM_000384.3(APOB):c.741_745del (p.Thr248fs)	APOB (T248fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2948441	NM_000384.3(APOB):c.9606dup (p.Ser3203fs)	APOB (S3203fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2948178	NM_000384.3(APOB):c.9291del (p.Lys3097fs)	APOB (K3097fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2946216	NM_000384.3(APOB):c.5582del (p.Gly1861fs)	APOB (G1861fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2944843	NM_000384.3(APOB):c.5545del (p.Ala1849fs)	APOB (A1849fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2944775	NM_000384.3(APOB):c.7957del (p.Asn2654fs)	APOB (N2654fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2944357	NM_000384.3(APOB):c.694-4_694-2del	APOB	Deletion (splice acceptor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2943935	NM_000384.3(APOB):c.122-2A>G	APOB, LOC106560211	Single nucleotide variant (splice acceptor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2943324	NM_000384.3(APOB):c.9497del (p.Lys3166fs)	APOB (K3166fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2937495	NM_000384.3(APOB):c.5838C>A (p.Tyr1946Ter)	APOB (Y1946*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2936678	NM_000384.3(APOB):c.3896del (p.Pro1299fs)	APOB (P1299fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2934540	NM_000384.3(APOB):c.2841_2842insCT (p.Thr948fs)	APOB (T948fs)	Insertion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2933458	NM_000384.3(APOB):c.7144C>T (p.Gln2382Ter)	APOB (Q2382*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2931646	NM_000384.3(APOB):c.1618-2A>C	APOB	Single nucleotide variant (splice acceptor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2931489	NM_000384.3(APOB):c.1470+2T>C	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2930593	NM_000384.3(APOB):c.8594del (p.Asn2865fs)	APOB (N2865fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2929773	NM_000384.3(APOB):c.5976C>A (p.Tyr1992Ter)	APOB (Y1992*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2929243	NM_000384.3(APOB):c.2341G>T (p.Gly781Ter)	APOB (G781*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2928257	NM_000384.3(APOB):c.904+1G>A	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2927812	NM_000384.3(APOB):c.10781G>A (p.Trp3594Ter)	APOB (W3594*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2927629	NM_000384.3(APOB):c.7425del (p.Thr2476fs)	APOB (T2476fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2927391	NM_000384.3(APOB):c.2067+1G>T	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2925964	NM_000384.3(APOB):c.10852del (p.Gln3618fs)	APOB (Q3618fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2925318	NM_000384.3(APOB):c.2115del (p.Phe705fs)	APOB (F705fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2925317	NM_000384.3(APOB):c.10734dup (p.Thr3579fs)	APOB (T3579fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2925315	NM_000384.3(APOB):c.11400T>G (p.Tyr3800Ter)	APOB (Y3800*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2922354	NM_000384.3(APOB):c.10230_10234del (p.His3410fs)	APOB (H3410fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2650709	NM_000384.3(APOB):c.6679del (p.His2227fs)	APOB (H2227fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic
Select item 2203022	NM_000384.3(APOB):c.1471-1G>A	APOB	Single nucleotide variant (splice acceptor variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2202111	NM_000384.3(APOB):c.6567T>A (p.Tyr2189Ter)	APOB (Y2189*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2134447	NM_000384.3(APOB):c.82+2T>C	LOC106560211, APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 2130943	NM_000384.3(APOB):c.6330del (p.Lys2110fs)	APOB (K2110fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2100639	NM_000384.3(APOB):c.3342_3345del (p.Glu1116fs)	APOB (E1116fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2094513	NM_000384.3(APOB):c.11060del (p.Phe3687fs)	APOB (F3687fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 2044989	NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs)	APOB (L2914fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic/Likely pathogenic
Select item 2033258	NM_000384.3(APOB):c.1243del (p.Val415fs)	APOB (V415fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1991651	NM_000384.3(APOB):c.6799C>T (p.Gln2267Ter)	APOB (Q2267*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1983784	NM_000384.3(APOB):c.7558C>T (p.Arg2520Ter)	APOB (R2520*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1957134	NM_000384.3(APOB):c.133C>T (p.Arg45Ter)	APOB, LOC106560211 (R45*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1939251	NM_000384.3(APOB):c.6540del (p.Gln2180fs)	APOB (Q2180fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1914768	NM_000384.3(APOB):c.7861del (p.Pro2620_Leu2621insTer)	APOB	Deletion (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1678797	NM_000384.3(APOB):c.9632dup (p.Asn3211fs)	APOB (N3211fs)	Duplication (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 1515327	NM_000384.3(APOB):c.693+2T>A	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 1496923	NC_000002.11:g.(?_21229172)_(21237720_?)del	APOB	Deletion	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 1494951	NM_000384.3(APOB):c.3508+1G>T	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 1468789	NM_000384.3(APOB):c.3508+1G>A	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely pathogenic
Select item 1458186	NM_000384.3(APOB):c.1258G>T (p.Glu420Ter)	APOB (E420*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1458005	NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter)	APOB (E1260*)	Single nucleotide variant (nonsense)	Hypobetalipoproteinemia +2 more	GPathogenic/Likely pathogenic
Select item 1456415	NM_000384.3(APOB):c.7704T>G (p.Tyr2568Ter)	APOB (Y2568*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1455782	NM_000384.3(APOB):c.8528_8531dup (p.Phe2845fs)	APOB (F2845fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1454956	NM_000384.3(APOB):c.10327G>T (p.Glu3443Ter)	APOB (E3443*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1453164	NM_000384.3(APOB):c.7966_7969del (p.Phe2656fs)	APOB (F2656fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1432825	NM_000384.3(APOB):c.11465del (p.Val3822fs)	APOB (V3822fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1416940	NM_000384.3(APOB):c.1998C>A (p.Tyr666Ter)	APOB (Y666*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1416136	NM_000384.3(APOB):c.11532del (p.Asn3845fs)	APOB (N3845fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1406951	NM_000384.3(APOB):c.9960del (p.Phe3320fs)	APOB (F3320fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1402036	NM_000384.3(APOB):c.331_332del (p.Ala111fs)	APOB (A111fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1386291	NM_000384.3(APOB):c.7489C>T (p.Gln2497Ter)	APOB (Q2497*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1369494	NM_000384.3(APOB):c.2979T>A (p.Tyr993Ter)	APOB (Y993*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1364654	NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs)	APOB (L2693fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1323319	NM_000384.3(APOB):c.3511G>T (p.Glu1171Ter)	APOB (E1171*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 1174484	NM_000384.3(APOB):c.226_237+1del	APOB, LOC106560211	Deletion (splice donor variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic/Likely pathogenic
Select item 1071546	NM_000384.3(APOB):c.8594dup (p.Asn2865fs)	APOB (N2865fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1070659	NM_000384.3(APOB):c.6403del (p.Val2135fs)	APOB (V2135fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1070406	NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter)	APOB (Q2567*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 1068824	NM_000384.3(APOB):c.9615del (p.Asp3205fs)	APOB (D3205fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 959104	NM_000384.3(APOB):c.2060del (p.Leu687fs)	APOB (L687fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 951011	NM_000384.3(APOB):c.11764C>T (p.Gln3922Ter)	APOB (Q3922*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 939237	NM_000384.3(APOB):c.11060_11061delinsAA (p.Phe3687Ter)	APOB (F3687*)	Indel (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 927955	NM_000384.3(APOB):c.6034C>T (p.Arg2012Ter)	APOB (R2012*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 925921	NM_000384.3(APOB):c.11124del (p.Phe3708fs)	APOB (F3708fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 921367	NM_000384.3(APOB):c.7151_7155del (p.Val2384fs)	APOB (V2384fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 920726	NM_000384.3(APOB):c.6630_6631del (p.Ser2211_Leu2212insTer)	APOB	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 918183	NM_000384.3(APOB):c.4304del (p.Ile1435fs)	APOB (I1435fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 917844	NM_000384.3(APOB):c.10171del (p.Arg3391fs)	APOB (R3391fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 855100	NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter)	APOB (Q1336*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic
Select item 853099	NM_000384.3(APOB):c.9180dup (p.Pro3061fs)	APOB (P3061fs)	Duplication (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 843259	NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter)	APOB (E2798*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic
Select item 838558	NM_000384.3(APOB):c.5316del (p.Asn1772fs)	APOB (N1772fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 648832	NM_000384.3(APOB):c.671del (p.Pro224fs)	APOB (P224fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 630334	NM_000384.3(APOB):c.2604+1G>A	APOB	Single nucleotide variant (splice donor variant)	APOB-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 580451	NM_000384.3(APOB):c.11789-1G>C	APOB	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely pathogenic
Select item 577519	NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)	APOB (Y1501*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 569699	NM_000384.3(APOB):c.6543del (p.Phe2181fs)	APOB (F2181fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 544076	NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)	APOB (F3039fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 544071	NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter)	APOB (Y2535*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 524093	NM_000384.3(APOB):c.7851del (p.Phe2617fs)	APOB (F2617fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 495857	NM_000384.3(APOB):c.10848del (p.Gly3617fs)	APOB (G3617fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 477783	NM_000384.3(APOB):c.1830-1G>A	APOB	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 431499	NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)	APOB (Q1551*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic
Select item 404400	NM_000384.3(APOB):c.409G>T (p.Glu137Ter)	APOB (E137*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 402378	NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)	APOB (G972S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 237741	NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)	APOB (R558*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity

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