ClinVar for MedGen (Select 7352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582665	NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter)	LPL (Y338*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2572510	NM_000237.3(LPL):c.88+3A>C	LPL	Single nucleotide variant (intron variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 2502272	NM_000237.3(LPL):c.1414A>C (p.Lys472Gln)	LPL (K472Q)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +1 more	GUncertain significance
Select item 2444152	NM_000237.3(LPL):c.550C>T (p.Pro184Ser)	LPL (P184S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 2429774	NM_000237.3(LPL):c.818A>C (p.His273Pro)	LPL (H273P)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GPathogenic
Select item 2429741	NM_000237.3(LPL):c.925del (p.Arg309fs)	LPL (R309fs)	Deletion (frameshift variant)	Hyperlipoproteinemia, type I	GPathogenic
Select item 2136643	NM_000237.3(LPL):c.818A>G (p.His273Arg)	LPL (H273R)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +1 more	GLikely pathogenic
Select item 2045460	NM_000237.3(LPL):c.1379C>T (p.Ala460Val)	LPL (A460V)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +2 more	GConflicting classifications of pathogenicity
Select item 1735664	NM_000237.3(LPL):c.386A>C (p.Lys129Thr)	LPL (K129T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1693264	NM_000237.3(LPL):c.1019-2A>T	LPL	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GPathogenic
Select item 1684861	NM_000237.3(LPL):c.373G>A (p.Ala125Thr)	LPL (A125T)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GUncertain significance
Select item 1677766	NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)	LPL (W417*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1457932	NM_000237.3(LPL):c.1019-3C>A	LPL	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1366216	NM_000237.3(LPL):c.688del (p.Val230fs)	LPL (V230fs)	Deletion (frameshift variant)	Hyperlipidemia, familial combined, LPL related +2 more	GPathogenic/Likely pathogenic
Select item 1343454	NM_000237.3(LPL):c.1123A>G (p.Asn375Asp)	LPL (N375D)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GUncertain significance
Select item 1339047	NM_000237.3(LPL):c.242G>A (p.Gly81Asp)	LPL (G81D)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GPathogenic/Likely pathogenic
Select item 1314220	NM_000237.3(LPL):c.885A>C (p.Glu295Asp)	LPL (E295D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1236167	NM_000237.3(LPL):c.721C>T (p.Pro241Ser)	LPL (P241S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GLikely pathogenic
Select item 1227345	NM_000237.3(LPL):c.1018+82C>A	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210427	NM_000237.3(LPL):c.132G>T (p.Arg44Ser)	LPL (R44S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1210341	NM_000237.3(LPL):c.347G>A (p.Arg116Gln)	LPL (R116Q)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GLikely pathogenic
Select item 1209598	NM_000237.3(LPL):c.190G>A (p.Val64Met)	LPL (V64M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1209597	NM_000237.3(LPL):c.1394G>C (p.Cys465Ser)	LPL (C465S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1209577	NM_000237.3(LPL):c.1401C>A (p.Asp467Glu)	LPL (D467E)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1203042	NM_000237.3(LPL):c.292G>A (p.Ala98Thr)	LPL (A98T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1165810	NM_000237.3(LPL):c.1018+34A>G	LPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1153052	NM_000237.3(LPL):c.744T>C (p.Ala248=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143682	NM_000237.3(LPL):c.72G>C (p.Gly24=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1066636	NM_000237.3(LPL):c.805G>A (p.Glu269Lys)	LPL (E269K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1066635	NM_000237.3(LPL):c.547G>A (p.Asp183Asn)	LPL (D183N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GPathogenic/Likely pathogenic
Select item 1030690	NM_000237.3(LPL):c.991A>G (p.Lys331Glu)	LPL (K331E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1030689	NM_000237.3(LPL):c.487C>T (p.His163Tyr)	LPL (H163Y)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1030688	NM_000237.3(LPL):c.1216A>T (p.Lys406Ter)	LPL (K406*)	Single nucleotide variant (nonsense)	Hyperlipidemia, familial combined, LPL related +1 more	GConflicting classifications of pathogenicity
Select item 995957	NM_000237.3(LPL):c.765_766del (p.Gly256fs)	LPL (G256fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 991266	NM_000237.3(LPL):c.1234G>A (p.Asp412Asn)	LPL (D412N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 991265	NM_000237.3(LPL):c.1207C>T (p.Leu403Phe)	LPL (L403F)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 991264	NM_000237.3(LPL):c.313G>A (p.Asp105Asn)	LPL (D105N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 991263	NM_000237.3(LPL):c.84C>G (p.Ala28=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985671	NM_000237.3(LPL):c.1051G>A (p.Gly351Arg)	LPL (G351R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 979021	NM_000237.3(LPL):c.929G>A (p.Cys310Tyr)	LPL (C310Y)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
Select item 978325	NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala)	APOA5 (G165A)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 973588	NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs)	LPL (K387fs)	Insertion (frameshift variant)	Hyperlipoproteinemia, type I	GLikely pathogenic
Select item 973587	NM_000237.3(LPL):c.1139+1G>A	LPL	Single nucleotide variant (splice donor variant)	Hyperlipoproteinemia, type I +1 more	GLikely pathogenic
Select item 911786	NM_000237.3(LPL):c.*1928T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GBenign
Select item 911785	NM_000237.3(LPL):c.*1891T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911784	NM_000237.3(LPL):c.*1886G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911783	NM_000237.3(LPL):c.*1854T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911714	NM_000237.3(LPL):c.*1048A>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911713	NM_000237.3(LPL):c.*903C>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911649	NM_000237.3(LPL):c.1373C>T (p.Ala458Val)	LPL (A458V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 911648	NM_000237.3(LPL):c.1196T>C (p.Ile399Thr)	LPL (I399T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 911585	NM_000237.3(LPL):c.-101C>T	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910546	NM_000237.3(LPL):c.*1797G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910545	NM_000237.3(LPL):c.*1793G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910544	NM_000237.3(LPL):c.*1788T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910543	NM_000237.3(LPL):c.*1749T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910542	NM_000237.3(LPL):c.*1743G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910483	NM_000237.3(LPL):c.*831G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910482	NM_000237.3(LPL):c.*729A>G	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 910421	NM_000237.3(LPL):c.648C>T (p.Ser216=)	LPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910420	NM_000237.3(LPL):c.501T>C (p.Ile167=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 909614	NM_000237.3(LPL):c.*1547T>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909613	NM_000237.3(LPL):c.*1414C>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909612	NM_000237.3(LPL):c.*1399G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909611	NM_000237.3(LPL):c.*1394A>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909555	NM_000237.3(LPL):c.*648A>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909554	NM_000237.3(LPL):c.*547T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909553	NM_000237.3(LPL):c.*455C>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909552	NM_000237.3(LPL):c.*389C>G	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 909490	NM_000237.3(LPL):c.439A>C (p.Asn147His)	LPL (N147H)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 908759	NM_000237.3(LPL):c.*1387T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GLikely benign
Select item 908758	NM_000237.3(LPL):c.*1373G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 908699	NM_000237.3(LPL):c.*221C>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 908698	NM_000237.3(LPL):c.*135C>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 908697	NM_000237.3(LPL):c.*29G>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I	GBenign
Select item 908696	NM_000237.3(LPL):c.1427+15C>A	LPL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908635	NM_000237.3(LPL):c.249G>A (p.Thr83=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 908634	NM_000237.3(LPL):c.134C>A (p.Thr45Asn)	LPL (T45N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 908633	NM_000237.3(LPL):c.81C>A (p.Ala27=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 908632	NM_000237.3(LPL):c.36C>A (p.Ala12=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 855588	NM_000237.3(LPL):c.835C>G (p.Leu279Val)	LPL (L279V)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +3 more	GPathogenic
Select item 851236	NM_000237.3(LPL):c.836T>G (p.Leu279Arg)	LPL (L279R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 799671	NM_000237.3(LPL):c.1344G>A (p.Glu448=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796133	NM_000237.3(LPL):c.111C>T (p.Ile37=)	LPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 792787	NM_000237.3(LPL):c.1338T>C (p.Ser446=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +3 more	GLikely benign
Select item 766071	NM_000237.3(LPL):c.1325T>G (p.Val442Gly)	LPL (V442G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 765755	NM_000237.3(LPL):c.276G>A (p.Val92=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 764668	NM_000237.3(LPL):c.189C>T (p.Ser63=)	LPL	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 755163	NM_000237.3(LPL):c.112G>A (p.Glu38Lys)	LPL (E38K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 754435	NM_000237.3(LPL):c.542-8C>T	LPL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 753489	NM_000237.3(LPL):c.59C>T (p.Ala20Val)	LPL (A20V)	Single nucleotide variant (missense variant)	LPL-related condition +1 more	GLikely benign
Select item 750857	NM_000237.3(LPL):c.900G>A (p.Gly300=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 747870	NM_000237.3(LPL):c.528C>G (p.Val176=)	LPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 745949	NM_000237.3(LPL):c.1128C>T (p.Ile376=)	LPL	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 742198	NM_000237.3(LPL):c.687T>C (p.His229=)	LPL	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 738167	NM_000237.3(LPL):c.1272C>T (p.Pro424=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 723310	NM_000237.3(LPL):c.290C>T (p.Ala97Val)	LPL (A97V)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 721152	NM_000237.3(LPL):c.456T>C (p.Asn152=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +3 more	GBenign/Likely benign
Select item 719805	NM_000237.3(LPL):c.345A>C (p.Ser115=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 718874	NM_000237.3(LPL):c.798C>T (p.Cys266=)	LPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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