ClinVar for MedGen (Select 462816) - ClinVar

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

Links from MedGen

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584633	NM_000236.3(LIPC):c.88+8C>A	LIPC	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2502241	NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)	LIPC (R344Q)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502235	NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)	LIPC (G118E)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502224	NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)	LIPC (A126D)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502204	NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)	LIPC (V342I)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2085301	NM_000236.3(LIPC):c.456+2T>C	LIPC	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1678437	NM_000236.3(LIPC):c.674G>A (p.Arg225Gln)	LIPC (R225Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1498752	NM_000236.3(LIPC):c.1330C>T (p.Arg444Cys)	LIPC (R444C)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 1337611	NM_000236.3(LIPC):c.89-4G>A	LIPC	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1174131	NM_000236.3(LIPC):c.1068= (p.Phe356=)	LIPC	Variation (no sequence alteration)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GPathogenic
Select item 931919	NM_000236.3(LIPC):c.787A>G (p.Ile263Val)	LIPC (I263V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 888279	NM_000236.3(LIPC):c.1232G>T (p.Gly411Val)	LIPC (G411V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 888278	NM_000236.3(LIPC):c.1215G>T (p.Thr405=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 888277	NM_000236.3(LIPC):c.1170G>A (p.Leu390=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 888212	NM_000236.3(LIPC):c.456+5C>T	LIPC	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 888211	NM_000236.3(LIPC):c.403C>T (p.Arg135Cys)	LIPC (R135C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888210	NM_000236.3(LIPC):c.314C>T (p.Ala105Val)	LIPC (A105V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 887013	NM_000236.3(LIPC):c.1029G>A (p.Thr343=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GLikely benign
Select item 886950	NM_000236.3(LIPC):c.207G>A (p.Pro69=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886949	NM_000236.3(LIPC):c.132G>A (p.Thr44=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 886948	NM_000236.3(LIPC):c.88+5G>C	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 886947	NM_000236.3(LIPC):c.67C>T (p.Leu23Phe)	LIPC (L23F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886011	NM_000236.3(LIPC):c.986G>A (p.Arg329His)	LIPC (R329H)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 886010	NM_000236.3(LIPC):c.981C>T (p.His327=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 886009	NM_000236.3(LIPC):c.947G>T (p.Cys316Phe)	LIPC (C316F)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 886008	NM_000236.3(LIPC):c.837C>T (p.His279=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 886007	NM_000236.3(LIPC):c.829T>C (p.Cys277Arg)	LIPC (C277R)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 885176	NM_000236.3(LIPC):c.1421T>C (p.Leu474Pro)	LIPC (L474P)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 885175	NM_000236.3(LIPC):c.1415A>T (p.Asp472Val)	LIPC (D472V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 885174	NM_000236.3(LIPC):c.1388+13T>G	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 885173	NM_000236.3(LIPC):c.1314A>G (p.Pro438=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 885172	NM_000236.3(LIPC):c.1273G>C (p.Val425Leu)	LIPC (V425L)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 885098	NM_000236.3(LIPC):c.575-15C>T	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 782593	NM_000236.3(LIPC):c.213G>A (p.Thr71=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 735412	NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)	LIPC (D409A)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 631739	NM_000236.3(LIPC):c.738_739dup (p.Gly247fs)	LIPC (G247fs)	Duplication (frameshift variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316681	NM_000236.3(LIPC):c.1437C>A (p.Thr479=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316680	NM_000236.3(LIPC):c.1430G>A (p.Arg477His)	LIPC (R477H)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316679	NM_000236.3(LIPC):c.1341C>T (p.Gly447=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316678	NM_000236.3(LIPC):c.1233C>T (p.Gly411=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 316677	NM_000236.3(LIPC):c.1231G>A (p.Gly411Ser)	LIPC (G411S)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316676	NM_000236.3(LIPC):c.1203C>T (p.Ser401=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316675	NM_000236.3(LIPC):c.1169+11G>A	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316674	NM_000236.3(LIPC):c.1098A>G (p.Thr366=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316673	NM_000236.3(LIPC):c.1068C>A (p.Phe356Leu)	LIPC (F356L)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316672	NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)	LIPC (Q355R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 316671	NM_000236.3(LIPC):c.1052-10C>G	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 316670	NM_000236.3(LIPC):c.1052-13TC[6]	LIPC	Microsatellite (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 316669	NM_000236.3(LIPC):c.998G>A (p.Arg333Gln)	LIPC (R333Q)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316668	NM_000236.3(LIPC):c.867C>T (p.Ser289=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316667	NM_000236.3(LIPC):c.739G>A (p.Gly247Arg)	LIPC (G247R)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316666	NM_000236.3(LIPC):c.672C>G (p.Thr224=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316665	NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)	LIPC (N215S)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316664	NM_000236.3(LIPC):c.591A>G (p.Gly197=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign
Select item 316663	NM_000236.3(LIPC):c.588G>A (p.Ala196=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 316662	NM_000236.3(LIPC):c.575-5A>G	LIPC	Single nucleotide variant (intron variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316661	NM_000236.3(LIPC):c.575-8C>A	LIPC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316660	NM_000236.3(LIPC):c.465G>T (p.Val155=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316659	NM_000236.3(LIPC):c.461C>A (p.Ser154Tyr)	LIPC (S154Y)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316658	NM_000236.3(LIPC):c.317C>T (p.Ala106Val)	LIPC (A106V)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 316657	NM_000236.3(LIPC):c.316G>A (p.Ala106Thr)	LIPC (A106T)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GUncertain significance
Select item 316656	NM_000236.3(LIPC):c.283G>A (p.Val95Met)	LIPC (V95M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316655	NM_000236.3(LIPC):c.264C>T (p.His88=)	LIPC	Single nucleotide variant (synonymous variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GBenign/Likely benign
Select item 316654	NM_000236.3(LIPC):c.206C>T (p.Pro69Leu)	LIPC (P69L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 29776	NM_000236.3(LIPC):c.583G>A (p.Ala195Thr)	LIPC (A195T)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency	GPathogenic
Select item 14452	NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)	LIPC (S289F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14451	NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	LIPC (T405M)	Single nucleotide variant (missense variant)	not provided +5 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: 67