ClinVar for MedGen (Select 6965) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1803250	NM_000237.3(LPL):c.867C>A (p.Tyr289Ter)	LPL (Y289*)	Single nucleotide variant (nonsense)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
Select item 1765969	NM_000237.3(LPL):c.914G>C (p.Cys305Ser)	LPL (C305S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 1685932	NM_000237.3(LPL):c.984G>T (p.Met328Ile)	LPL (M328I)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +1 more	GPathogenic/Likely pathogenic
Select item 1685931	NM_000237.3(LPL):c.862G>C (p.Ala288Pro)	LPL (A288P)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +1 more	GConflicting classifications of pathogenicity
Select item 1685930	NM_000237.3(LPL):c.691G>A (p.Asp231Asn)	LPL (D231N)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 1685928	NM_000237.3(LPL):c.88+1G>T	LPL	Single nucleotide variant (splice donor variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 1685369	NM_000237.3(LPL):c.1306G>C (p.Gly436Arg)	LPL (G436R)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
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 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 1333456	NM_000237.3(LPL):c.370T>C (p.Ser124Pro)	LPL (S124P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 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 982960	NM_000237.3(LPL):c.804C>G (p.His268Gln)	LPL (H268Q)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	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 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 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 632073	NM_000237.3(LPL):c.998G>A (p.Arg333His)	LPL (R333H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 521082	NM_000237.3(LPL):c.590G>A (p.Arg197His)	LPL (R197H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 424622	NM_000237.3(LPL):c.904T>C (p.Cys302Arg)	LPL (C302R)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
Select item 1550	NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	LPL (N318S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1543	NM_000237.3(LPL):c.1081G>A (p.Ala361Thr)	LPL (A361T)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 1541	NM_000237.3(LPL):c.272G>A (p.Trp91Ter)	LPL (W91*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1540	NM_000237.3(LPL):c.337T>C (p.Trp113Arg)	LPL (W113R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1539	NM_000237.3(LPL):c.829G>A (p.Asp277Asn)	LPL (D277N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1537	NM_000237.3(LPL):c.1227G>A (p.Trp409Ter)	LPL (W409*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +1 more	GPathogenic
Select item 1535	NM_000237.3(LPL):c.249+1G>A	LPL	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1534	NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)	LPL (S474*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GBenign
Select item 1530	NM_000237.3(LPL):c.809G>A (p.Arg270His)	LPL (R270H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1529	NM_000237.3(LPL):c.662T>C (p.Ile221Thr)	LPL (I221T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1527	NM_000237.3(LPL):c.701C>T (p.Pro234Leu)	LPL (P234L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1522	NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	LPL (G215E)	Single nucleotide variant (missense variant)	LPL-related condition +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 42