ClinVar for Gene (Select 106560211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231484	NM_000384.3(APOB):c.9G>A (p.Pro3=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231459	NM_000384.3(APOB):c.8_9delinsAA (p.Pro3Gln)	APOB, LOC106560211 (P3Q)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231456	NM_000384.3(APOB):c.78G>A (p.Arg26=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231399	NM_000384.3(APOB):c.32T>C (p.Leu11Pro)	APOB, LOC106560211 (L11P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231393	NM_000384.3(APOB):c.29C>A (p.Ala10Glu)	APOB, LOC106560211 (A10E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3026835	NM_000384.3(APOB):c.67G>T (p.Ala23Ser)	APOB, LOC106560211 (A23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2952375	NM_000384.3(APOB):c.18_27delinsT (p.9_11LAL[1])	APOB, LOC106560211	Indel (inframe_deletion)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2949955	NM_000384.3(APOB):c.225G>A (p.Arg75=)	LOC106560211, APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
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 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 2946562	NM_000384.3(APOB):c.83-18C>A	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
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 2943121	NM_000384.3(APOB):c.18_26del (p.9LAL[1])	APOB, LOC106560211	Deletion (inframe_deletion)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2938966	NM_000384.3(APOB):c.49C>T (p.Leu17=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2931101	NM_000384.3(APOB):c.153G>A (p.Lys51=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2927543	NM_000384.3(APOB):c.83-16T>C	LOC106560211, APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2926969	NM_000384.3(APOB):c.238-19T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2926137	NM_000384.3(APOB):c.4G>A (p.Asp2Asn)	APOB, LOC106560211 (D2N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2922447	NM_000384.3(APOB):c.144C>A (p.His48Gln)	APOB, LOC106560211 (H48Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2921423	NM_000384.3(APOB):c.186T>C (p.Ser62=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2586191	NM_000384.3(APOB):c.102T>C (p.Asn34=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2582602	NM_000384.3(APOB):c.78_82+5del	APOB, LOC106560211	Deletion (splice donor variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely pathogenic
Select item 2565875	NM_000384.3(APOB):c.81C>A (p.Ala27=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451332	NM_000384.3(APOB):c.35_47delinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu)	APOB, LOC106560211	Indel (inframe_indel)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 2421096	NM_000384.3(APOB):c.71G>A (p.Gly24Asp)	APOB, LOC106560211 (G24D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 2200098	NM_000384.3(APOB):c.21G>A (p.Ala7=)	LOC106560211, APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2159672	NM_000384.3(APOB):c.134G>A (p.Arg45Gln)	APOB, LOC106560211 (R45Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2150516	NM_000384.3(APOB):c.109C>T (p.Leu37=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
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 2058930	NM_000384.3(APOB):c.144C>T (p.His48=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2049416	NM_000384.3(APOB):c.44_49del (p.Pro15_Ala16del)	APOB, LOC106560211	Deletion (inframe_deletion)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2038842	NM_000384.3(APOB):c.82+16C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2003000	NM_000384.3(APOB):c.204T>C (p.Ala68=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
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 1955108	NM_000384.3(APOB):c.69G>A (p.Ala23=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1939904	NM_000384.3(APOB):c.238-19del	APOB, LOC106560211	Deletion (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1908237	NM_000384.3(APOB):c.121+16A>G	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GBenign
Select item 1785880	NM_000384.3(APOB):c.20C>T (p.Ala7Val)	APOB, LOC106560211 (A7V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780564	NM_000384.3(APOB):c.180T>A (p.Ser60Arg)	APOB, LOC106560211 (S60R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767895	NM_000384.3(APOB):c.96G>A (p.Leu32=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 1762831	NM_000384.3(APOB):c.82G>C (p.Glu28Gln)	APOB, LOC106560211 (E28Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1753894	NM_000384.3(APOB):c.64C>T (p.Leu22=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 1753329	NM_000384.3(APOB):c.63G>T (p.Leu21=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1750975	NM_000384.3(APOB):c.5A>C (p.Asp2Ala)	APOB, LOC106560211 (D2A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749777	NM_000384.3(APOB):c.49CTG[3] (p.Leu20_Leu22del)	APOB, LOC106560211	Microsatellite (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 1747305	NM_000384.3(APOB):c.53T>A (p.Leu18Gln)	APOB, LOC106560211 (L18Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1741814	NM_000384.3(APOB):c.45T>C (p.Pro15=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 1736000	NM_000384.3(APOB):c.38C>T (p.Ala13Val)	APOB, LOC106560211 (A13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727626	NM_000384.3(APOB):c.30G>C (p.Ala10=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1685528	NC_000002.12:g.21043539_21043552del	APOB, LOC106560211	Deletion	Hypercholesterolemia, autosomal dominant, type B	GPathogenic
Select item 1659118	NM_000384.3(APOB):c.231C>T (p.Asn77=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely benign
Select item 1651928	NM_000384.3(APOB):c.121+18G>T	LOC106560211, APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 1640763	NM_000384.3(APOB):c.83-10T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1596987	NM_000384.3(APOB):c.180T>C (p.Ser60=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1543835	NM_000384.3(APOB):c.237+7A>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 1529332	NM_000384.3(APOB):c.108C>T (p.Ser36=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1495148	NM_000384.3(APOB):c.194C>T (p.Pro65Leu)	APOB, LOC106560211 (P65L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 1429179	NM_000384.3(APOB):c.215G>T (p.Ser72Ile)	APOB, LOC106560211 (S72I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GBenign
Select item 1374170	NM_000384.3(APOB):c.82+6T>G	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 1192328	NM_000384.3(APOB):c.237+92G>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +1 more	GBenign
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 1168150	NM_000384.3(APOB):c.49CTG[5] (p.Leu22del)	APOB, LOC106560211 (L22del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +2 more	GBenign
Select item 1158918	NM_000384.3(APOB):c.159A>G (p.Thr53=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1148275	NM_000384.3(APOB):c.192C>T (p.Val64=)	LOC106560211, APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely benign
Select item 1122097	NM_000384.3(APOB):c.82+8C>G	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 1115315	NM_000384.3(APOB):c.36G>T (p.Leu12=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1091996	NM_000384.3(APOB):c.82+10C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 1064217	NM_000384.3(APOB):c.205G>A (p.Asp69Asn)	APOB, LOC106560211 (D69N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 993131	NM_000384.3(APOB):c.49CTG[7] (p.Leu22dup)	APOB, LOC106560211	Microsatellite (inframe_insertion)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 977986	NM_000384.3(APOB):c.44_50del (p.Pro15fs)	APOB, LOC106560211 (P15fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977985	NM_000384.3(APOB):c.35_39del (p.Leu12fs)	APOB, LOC106560211 (L12fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 976129	NM_000384.3(APOB):c.44_52del (p.Pro15_Leu17del)	APOB, LOC106560211	Deletion (inframe_deletion)	Hypercholesterolemia, autosomal dominant, type B	GUncertain significance
Select item 926075	NM_000384.3(APOB):c.152A>G (p.Lys51Arg)	APOB, LOC106560211 (K51R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 924433	NM_000384.3(APOB):c.237+4T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 924103	NM_000384.3(APOB):c.128C>T (p.Ala43Val)	APOB, LOC106560211 (A43V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 923853	NM_000384.3(APOB):c.110T>A (p.Leu37Gln)	APOB, LOC106560211 (L37Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 921121	NM_000384.3(APOB):c.166T>C (p.Tyr56His)	APOB, LOC106560211 (Y56H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 920621	NM_000384.3(APOB):c.187G>A (p.Gly63Arg)	APOB, LOC106560211 (G63R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 919961	NM_000384.3(APOB):c.143A>T (p.His48Leu)	APOB, LOC106560211 (H48L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 919669	NM_000384.3(APOB):c.215G>A (p.Ser72Asn)	APOB, LOC106560211 (S72N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 918936	NM_000384.3(APOB):c.141G>A (p.Lys47=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 918868	NM_000384.3(APOB):c.238-9A>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 899012	NM_000384.3(APOB):c.-96T>A	APOB, LOC106560211	Single nucleotide variant (5 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 899011	NM_000384.3(APOB):c.-82C>A	APOB, LOC106560211	Single nucleotide variant (5 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 899010	NM_000384.3(APOB):c.-79T>C	LOC106560211, APOB	Single nucleotide variant (5 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 897865	NM_000384.3(APOB):c.8C>T (p.Pro3Leu)	APOB, LOC106560211 (P3L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 897864	NM_000384.3(APOB):c.24G>A (p.Leu8=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 897863	NM_000384.3(APOB):c.35T>C (p.Leu12Pro)	APOB, LOC106560211 (L12P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 864531	NM_000384.3(APOB):c.151A>C (p.Lys51Gln)	APOB, LOC106560211 (K51Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 847160	NM_000384.3(APOB):c.26TGGCGCTGC[3] (p.9LAL[3])	APOB, LOC106560211	Microsatellite (inframe_insertion)	Familial hypobetalipoproteinemia 1 +3 more	GUncertain significance
Select item 808700	NM_000384.3(APOB):c.18C>T (p.Pro6=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 697560	NM_000384.3(APOB):c.81C>G (p.Ala27=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 695711	NM_000384.3(APOB):c.83-7C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 684875	NM_000384.3(APOB):c.149G>A (p.Arg50Gln)	APOB, LOC106560211 (R50Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 682399	NM_000384.3(APOB):c.82+12G>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 655663	NM_000384.3(APOB):c.28_29delinsCTGCT (p.Ala10delinsLeuLeu)	APOB, LOC106560211	Indel (inframe_indel)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 630944	NM_000384.3(APOB):c.237+8G>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 630367	NM_000384.3(APOB):c.85G>A (p.Glu29Lys)	APOB, LOC106560211 (E29K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 630366	NM_000384.3(APOB):c.107G>C (p.Ser36Thr)	APOB, LOC106560211 (S36T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 630365	NM_000384.3(APOB):c.129G>A (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity

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