ClinVar for Gene (Select 3949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231966	NM_000527.5(LDLR):c.726G>A (p.Gln242=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231963	NM_000527.5(LDLR):c.631del (p.His211fs)	LDLR (H170fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3231961	NM_000527.5(LDLR):c.479G>C (p.Cys160Ser)	LDLR (C119S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 3231960	NM_000527.5(LDLR):c.423C>T (p.Ala141=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231959	NM_000527.4:c.2462_2463insALU	LDLR	Insertion	Cardiovascular phenotype	GLikely pathogenic
Select item 3231958	NM_000527.5(LDLR):c.2187A>G (p.Leu729=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231957	NM_000527.5(LDLR):c.2076C>T (p.Pro692=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231956	NM_000527.5(LDLR):c.1782C>T (p.Asn594=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231954	NM_000527.5(LDLR):c.1704A>G (p.Leu568=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231953	NM_000527.5(LDLR):c.1661C>G (p.Ser554Trp)	LDLR (S386W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231951	NM_000527.5(LDLR):c.1587-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GPathogenic
Select item 3231948	NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser)	LDLR (I273S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3231947	NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del)	LDLR	Deletion (inframe_deletion)	Cardiovascular phenotype	GLikely pathogenic
Select item 3118265	NM_000527.5(LDLR):c.941-5C>A	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118264	NM_000527.5(LDLR):c.485C>A (p.Pro162His)	LDLR (P162H +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118263	NM_000527.5(LDLR):c.481_482insGACAGC (p.Ile161delinsArgGlnLeu)	LDLR	Insertion (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118261	NM_000527.5(LDLR):c.214G>A (p.Asp72Asn)	LDLR (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118260	NM_000527.5(LDLR):c.1764_1775delinsGTCAATGGGGGCAACC (p.Ile588fs)	LDLR (I461fs +3 more)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3118259	NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)	LDLR (E250fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3076070	NM_000527.5(LDLR):c.1988_2140+1064del	LDLR	Deletion (splice acceptor variant +2 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076062	NC_000019.10:g.(?_11110652)_(11110771_?)dup	LDLR	Duplication	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076055	NC_000019.10:g.(?_11111514)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076054	NC_000019.10:g.(?_11128008)_(11128085_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076048	NC_000019.10:g.(?_11110652)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GPathogenic
Select item 3075824	NM_000527.5(LDLR):c.2322del (p.Asp774fs)	LDLR (D596fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3075778	NM_000527.5(LDLR):c.1637del (p.Gly546fs)	LDLR (G378fs +3 more)	Deletion (frameshift variant)	Homozygous familial hypercholesterolemia	GPathogenic
Select item 3075751	NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs)	LDLR (G576fs +3 more)	Deletion (frameshift variant)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075750	NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter)	LDLR (R494* +3 more)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075749	NM_000527.5(LDLR):c.817+1G>C	LDLR	Single nucleotide variant (splice donor variant +1 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075748	NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)	LDLR, LDLR-AS1 (W6*)	Single nucleotide variant (non-coding transcript variant +1 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075488	NM_000527.5(LDLR):c.1548C>T (p.Gly516=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3075482	NM_000527.5(LDLR):c.1114G>C (p.Glu372Gln)	LDLR (E204Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075304	NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)	LDLR (G177S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075244	NM_000527.5(LDLR):c.2363G>A (p.Arg788Lys)	LDLR (R610K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075220	NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp)	LDLR (E169D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075142	NR_163945.1(LDLR-AS1):n.314G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075090	NM_000527.4(LDLR):c.-177G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075049	NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys)	LDLR (E603K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075020	NM_000527.5(LDLR):c.2548-12A>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3075017	NM_000527.5(LDLR):c.2129G>A (p.Ser710Asn)	LDLR (S542N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074992	NR_163945.1(LDLR-AS1):n.309del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074846	NM_000527.5(LDLR):c.2191G>A (p.Val731Ile)	LDLR (V553I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074591	NM_000527.5(LDLR):c.2446A>G (p.Lys816Glu)	LDLR (K638E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074586	NM_000527.5(LDLR):c.2542C>T (p.Pro848Ser)	LDLR (P670S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074560	NM_000527.5(LDLR):c.336C>A (p.Asp112Glu)	LDLR (D112E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074508	NM_000527.4(LDLR):c.-119A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074505	NM_000527.5(LDLR):c.1849A>G (p.Lys617Glu)	LDLR (K449E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074471	NM_000527.5(LDLR):c.2063A>G (p.Asn688Ser)	LDLR (N520S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074435	NM_000527.4(LDLR):c.-103A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074366	NM_000527.4(LDLR):c.-117A>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074313	NM_000527.5(LDLR):c.912C>T (p.Asp304=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3074305	NM_000527.5(LDLR):c.1166C>G (p.Thr389Arg)	LDLR (T221R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074282	NM_000527.5(LDLR):c.1122C>G (p.Gly374=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3074172	NM_000527.5(LDLR):c.2511C>T (p.His837=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3074135	NM_000527.5(LDLR):c.2494A>G (p.Thr832Ala)	LDLR (T654A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074081	NM_000527.5(LDLR):c.1196C>T (p.Ala399Val)	LDLR (A231V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074006	NM_000527.5(LDLR):c.2242G>C (p.Asp748His)	LDLR (D570H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073987	NM_000527.5(LDLR):c.1315A>G (p.Asn439Asp)	LDLR (N271D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073949	NM_000527.5(LDLR):c.585C>G (p.Ser195Arg)	LDLR (S154R +1 more)	Single nucleotide variant (intron variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073938	NM_000527.5(LDLR):c.303G>T (p.Glu101Asp)	LDLR (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073808	NM_000527.5(LDLR):c.161A>T (p.Asp54Val)	LDLR (D140V +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073748	NM_000527.5(LDLR):c.741C>G (p.Asn247Lys)	LDLR (N120K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073689	NM_000527.5(LDLR):c.2456A>G (p.Asn819Ser)	LDLR (N641S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073674	NM_000527.5(LDLR):c.2390-9T>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3073665	NM_000527.5(LDLR):c.2406T>A (p.Leu802=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3073652	NM_000527.5(LDLR):c.2007G>T (p.Arg669Ser)	LDLR (R501S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073518	NM_000527.5(LDLR):c.1590C>A (p.Phe530Leu)	LDLR (F362L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073501	NM_000527.5(LDLR):c.1093A>G (p.Ser365Gly)	LDLR (S197G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073453	NM_000527.5(LDLR):c.1024G>C (p.Asp342His)	LDLR (D174H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073439	NM_000527.5(LDLR):c.2389+6C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073222	NM_000527.5(LDLR):c.577G>T (p.Asp193Tyr)	LDLR (D152Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073105	NM_000527.5(LDLR):c.2433G>C (p.Lys811Asn)	LDLR (K633N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073101	NM_000527.5(LDLR):c.940G>T (p.Gly314Trp)	LDLR (G146W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073066	NM_000527.5(LDLR):c.64_65insTCG (p.Thr21_Ala22insVal)	LDLR-AS1, LDLR	Insertion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3073022	NM_000527.5(LDLR):c.1023C>G (p.Pro341=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3073000	NM_000527.5(LDLR):c.712C>T (p.Pro238Ser)	LDLR (P111S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072987	NM_000527.5(LDLR):c.1716T>G (p.Ser572Arg)	LDLR (S404R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072881	NM_000527.5(LDLR):c.1483C>G (p.Leu495Val)	LDLR (L327V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072732	NM_000527.5(LDLR):c.1144G>C (p.Gly382Arg)	LDLR (G214R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072729	NM_000527.5(LDLR):c.254A>G (p.Gln85Arg)	LDLR (Q171R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072636	NM_000527.5(LDLR):c.1181C>T (p.Ala394Val)	LDLR (A226V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072630	NM_000527.5(LDLR):c.836C>G (p.Pro279Arg)	LDLR (P111R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072625	NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)	LDLR (V628L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072613	NM_000527.5(LDLR):c.1469G>C (p.Trp490Ser)	LDLR (W322S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072607	NM_000527.5(LDLR):c.2525A>G (p.Gln842Arg)	LDLR (Q664R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072598	NM_000527.5(LDLR):c.-4G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072589	NM_000527.5(LDLR):c.831G>C (p.Glu277Asp)	LDLR (E109D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072588	NR_163945.1(LDLR-AS1):n.304G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072455	NM_000527.5(LDLR):c.1359-31G>C	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3072454	NM_000527.5(LDLR):c.1359-30C>G	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072246	NM_000527.5(LDLR):c.833G>A (p.Gly278Glu)	LDLR (G110E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072154	NM_000527.5(LDLR):c.512C>T (p.Pro171Leu)	LDLR (P130L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072133	NM_000527.5(LDLR):c.1275C>T (p.Asn425=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3072132	NM_000527.5(LDLR):c.432G>T (p.Pro144=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3072042	NM_000527.5(LDLR):c.1359-27_1359-3dup	LDLR, MIR6886	Duplication (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072040	NM_000527.4(LDLR):c.-94G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071961	NM_000527.5(LDLR):c.695-5del	LDLR	Deletion (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071879	NM_000527.5(LDLR):c.1966C>T (p.His656Tyr)	LDLR (H488Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071847	NM_000527.5(LDLR):c.2299A>G (p.Met767Val)	LDLR (M589V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071820	NR_163945.1(LDLR-AS1):n.326T>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance

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