ClinVar for MedGen (Select 462816) - ClinVar

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Items: 65

	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)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502235	NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)	LIPC (G118E)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502224	NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)	LIPC (A126D)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2502204	NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)	LIPC (V342I)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1678437	NM_000236.3(LIPC):c.674G>A (p.Arg225Gln)	LIPC (R225Q)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1337611	NM_000236.3(LIPC):c.89-4G>A	LIPC	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +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)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +1 more	GUncertain significance
Select item 888211	NM_000236.3(LIPC):c.403C>T (p.Arg135Cys)	LIPC (R135C)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +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)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +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)	not provided +1 more	GUncertain significance
Select item 886010	NM_000236.3(LIPC):c.981C>T (p.His327=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +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)	LIPC-related condition +2 more	GBenign/Likely benign
Select item 735412	NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)	LIPC (D409A)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 631739	NM_000236.3(LIPC):c.738_739dup (p.Gly247fs)	LIPC (G247fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 316681	NM_000236.3(LIPC):c.1437C>A (p.Thr479=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316680	NM_000236.3(LIPC):c.1430G>A (p.Arg477His)	LIPC (R477H)	Single nucleotide variant (missense variant)	not provided +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)	not provided +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)	LIPC-related condition +2 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GBenign
Select item 316673	NM_000236.3(LIPC):c.1068C>A (p.Phe356Leu)	LIPC (F356L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316672	NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)	LIPC (Q355R)	Single nucleotide variant (missense variant)	LIPC-related condition +4 more	GBenign/Likely benign
Select item 316671	NM_000236.3(LIPC):c.1052-10C>G	LIPC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 316670	NM_000236.3(LIPC):c.1052-13TC[6]	LIPC	Microsatellite (intron variant)	LIPC-related condition +2 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)	not provided +1 more	GUncertain significance
Select item 316666	NM_000236.3(LIPC):c.672C>G (p.Thr224=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316665	NM_000236.3(LIPC):c.644A>G (p.Asn215Ser)	LIPC (N215S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316664	NM_000236.3(LIPC):c.591A>G (p.Gly197=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 316663	NM_000236.3(LIPC):c.588G>A (p.Ala196=)	LIPC	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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)	not provided +1 more	GBenign/Likely benign
Select item 316654	NM_000236.3(LIPC):c.206C>T (p.Pro69Leu)	LIPC (P69L)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +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)	Type 1 diabetes mellitus 2 +5 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 65