ClinVar for Gene (Select 4023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382796	NM_000237.3(LPL):c.347G>C (p.Arg116Pro)	LPL (R116P)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +1 more	GLikely pathogenic
Select item 3379805	NM_000237.3(LPL):c.1060A>G (p.Ser354Gly)	LPL (S354G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379804	NM_000237.3(LPL):c.143A>T (p.Asp48Val)	LPL (D48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376967	NM_000237.3(LPL):c.632C>A (p.Thr211Lys)	LPL (T211K)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GLikely pathogenic
Select item 3366687	NM_000237.3(LPL):c.913T>C (p.Cys305Arg)	LPL (C305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366654	NM_000237.3(LPL):c.249+5G>A	LPL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3349008	NM_000237.3(LPL):c.941G>T (p.Gly314Val)	LPL (G314V)	Single nucleotide variant (missense variant)	LPL-related disorder	GUncertain significance
Select item 3344811	NM_000237.3(LPL):c.278C>T (p.Pro93Leu)	LPL (P93L)	Single nucleotide variant (missense variant)	LPL-related disorder	GUncertain significance
Select item 3343433	NM_000237.3(LPL):c.274G>A (p.Val92Met)	LPL (V92M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340534	NM_000237.3(LPL):c.827T>C (p.Ile276Thr)	LPL (I276T)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 3339313	NM_000237.3(LPL):c.*12T>G	LPL	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3337998	NM_000237.3(LPL):c.296T>C (p.Leu99Pro)	LPL (L99P)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GUncertain significance
Select item 3336283	NM_000237.3(LPL):c.636C>G (p.Phe212Leu)	LPL (F212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336195	NM_000237.3(LPL):c.397C>G (p.Gln133Glu)	LPL (Q133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291195	NM_000237.3(LPL):c.976A>G (p.Ser326Gly)	LPL (S326G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291194	NM_000237.3(LPL):c.259A>T (p.Met87Leu)	LPL (M87L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291193	NM_000237.3(LPL):c.1274G>A (p.Gly425Asp)	LPL (G425D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291191	NM_000237.3(LPL):c.1264A>G (p.Ser422Gly)	LPL (S422G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291190	NM_000237.3(LPL):c.1256A>T (p.Asp419Val)	LPL (D419V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291189	NM_000237.3(LPL):c.974G>C (p.Ser325Thr)	LPL (S325T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291188	NM_000237.3(LPL):c.250G>T (p.Val84Leu)	LPL (V84L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291187	NM_000237.3(LPL):c.64C>A (p.Arg22Ser)	LPL (R22S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3251983	NM_000237.3(LPL):c.804C>A (p.His268Gln)	LPL (H268Q)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GConflicting classifications of pathogenicity
Select item 3251615	NM_000237.3(LPL):c.679G>C (p.Val227Leu)	LPL (V227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251541	NM_000237.3(LPL):c.802C>T (p.His268Tyr)	LPL (H268Y)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GLikely pathogenic
Select item 3251523	NM_000237.3(LPL):c.874A>G (p.Ser292Gly)	LPL (S292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245557	NC_000008.10:g.(?_19362692)_(20112692_?)del	ATP6V1B2, CSGALNACT1 +4 more	Deletion	not provided	GPathogenic
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3245550	NC_000008.10:g.(?_19796952)_(19805871_?)del	LPL	Deletion	not provided	GPathogenic
Select item 3245549	NC_000008.10:g.(?_19805671)_(19805871_?)del	LPL	Deletion	not provided	GPathogenic
Select item 3245547	NC_000008.10:g.(?_19796952)_(19822821_?)del	LPL	Deletion	not provided	GPathogenic
Select item 3234449	NM_000237.3(LPL):c.1295G>C (p.Arg432Thr)	LPL (R432T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233749	NM_000237.3(LPL):c.149C>G (p.Ala50Gly)	LPL (A50G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3230723	NM_000237.3(LPL):c.97G>C (p.Asp33His)	LPL (D33H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230722	NM_000237.3(LPL):c.790G>A (p.Val264Met)	LPL (V264M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230721	NM_000237.3(LPL):c.409C>T (p.Arg137Trp)	LPL (R137W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230720	NM_000237.3(LPL):c.142G>T (p.Asp48Tyr)	LPL (D48Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230719	NM_000237.3(LPL):c.1406C>T (p.Ser469Phe)	LPL (S469F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230718	NM_000237.3(LPL):c.1370A>G (p.Lys457Arg)	LPL (K457R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119790	NM_000237.3(LPL):c.814A>C (p.Ile272Leu)	LPL (I272L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119789	NM_000237.3(LPL):c.764G>C (p.Arg255Thr)	LPL (R255T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119788	NM_000237.3(LPL):c.756T>G (p.Ile252Met)	LPL (I252M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119787	NM_000237.3(LPL):c.478C>G (p.Leu160Val)	LPL (L160V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3068354	NM_000237.3(LPL):c.1127_1137del (p.Ile376fs)	LPL (I376fs)	Deletion (frameshift variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 3066297	NM_000237.3(LPL):c.386_389del (p.Lys129fs)	LPL (K129fs)	Deletion (frameshift variant)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3020967	NM_000237.3(LPL):c.541+18T>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017837	NM_000237.3(LPL):c.870G>A (p.Arg290=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015165	NM_000237.3(LPL):c.89-17C>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014470	NM_000237.3(LPL):c.89-15A>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010890	NM_000237.3(LPL):c.1113C>G (p.Ala371=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010646	NM_000237.3(LPL):c.900G>T (p.Gly300=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006722	NM_000237.3(LPL):c.684G>A (p.Gly228=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006226	NM_000237.3(LPL):c.1139+16G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006057	NM_000237.3(LPL):c.333G>A (p.Val111=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004006	NM_000237.3(LPL):c.776-7dup	LPL	Duplication (intron variant)	not provided	GBenign
Select item 3003133	NM_000237.3(LPL):c.378C>A (p.Gly126=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999253	NM_000237.3(LPL):c.1428-18T>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992928	NM_000237.3(LPL):c.568G>A (p.Glu190Lys)	LPL (E190K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992733	NM_000237.3(LPL):c.1019-1G>A	LPL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2991949	NM_000237.3(LPL):c.89-19del	LPL	Deletion (intron variant)	not provided	GLikely benign
Select item 2988969	NM_000237.3(LPL):c.1018+12A>G	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988064	NM_000237.3(LPL):c.305G>C (p.Arg102Thr)	LPL (R102T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2988045	NM_000237.3(LPL):c.828C>A (p.Ile276=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985254	NM_000237.3(LPL):c.732C>T (p.Asn244=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985224	NM_000237.3(LPL):c.1140-14G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982831	NM_000237.3(LPL):c.1427+20del	LPL	Deletion (intron variant)	not provided	GLikely benign
Select item 2982060	NM_000237.3(LPL):c.1019-13T>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980267	NM_000237.3(LPL):c.249+17G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978890	NM_000237.3(LPL):c.363C>T (p.Tyr121=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977369	NM_000237.3(LPL):c.1427+8T>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976096	NM_000237.3(LPL):c.1139+12A>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972813	NM_000237.3(LPL):c.1014C>G (p.Tyr338Ter)	LPL (Y338*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2965680	NM_000237.3(LPL):c.534A>G (p.Arg178=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964606	NM_000237.3(LPL):c.1427+14G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963632	NM_000237.3(LPL):c.775+15G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959112	NM_000237.3(LPL):c.1427+13G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919886	NM_000237.3(LPL):c.57C>T (p.Thr19=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918791	NM_000237.3(LPL):c.1428-12_1428-11insT	LPL	Insertion (intron variant)	not provided	GLikely benign
Select item 2917907	NM_000237.3(LPL):c.250-16G>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916109	NM_000237.3(LPL):c.542-18_542-16del	LPL	Deletion (intron variant)	not provided	GLikely benign
Select item 2913183	NM_000237.3(LPL):c.1019-18G>A	LPL	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2912842	NM_000237.3(LPL):c.1139+14G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910502	NM_000237.3(LPL):c.1139+14G>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909073	NM_000237.3(LPL):c.429+13G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906107	NM_000237.3(LPL):c.1139+13G>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902929	NM_000237.3(LPL):c.450G>A (p.Leu150=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901077	NM_000237.3(LPL):c.429+11G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895548	NM_000237.3(LPL):c.429+16G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895318	NM_000237.3(LPL):c.250-14G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894781	NM_000237.3(LPL):c.776-17G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894160	NM_000237.3(LPL):c.1139+15G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885431	NM_000237.3(LPL):c.775+20G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884875	NM_000237.3(LPL):c.541+16C>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879905	NM_000237.3(LPL):c.498C>T (p.Gly166=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876937	NM_000237.3(LPL):c.1323-9C>T	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874984	NM_000237.3(LPL):c.366A>G (p.Pro122=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872828	NM_000237.3(LPL):c.541+8A>G	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867283	NM_000237.3(LPL):c.1161G>A (p.Lys387=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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