ClinVar for MedGen (Select 423619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585295	NM_000235.4(LIPA):c.1135T>A (p.Trp379Arg)	LIPA (W263R +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 2500772	NM_000235.4(LIPA):c.524A>C (p.Gln175Pro)	LIPA (Q175P +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 2444103	NM_000235.4(LIPA):c.425T>C (p.Phe142Ser)	LIPA (F142S +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 2413179	NM_000235.4(LIPA):c.947A>G (p.Asn316Ser)	LIPA (N200S +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 1726974	NM_000235.4(LIPA):c.384del (p.Lys128fs)	LIPA (K128fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725989	NM_000235.4(LIPA):c.605_618del (p.Pro202fs)	LIPA (P202fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725873	NM_000235.4(LIPA):c.313_314del (p.Gly105fs)	LIPA (G105fs)	Deletion (frameshift variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725309	NM_000235.4(LIPA):c.420_421del (p.Trp140fs)	LIPA (W140fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725269	NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)	LIPA (G113* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725254	NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)	LIPA (Q175* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1725047	NM_000235.4(LIPA):c.447del (p.Lys149fs)	LIPA (K149fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1724642	NM_000235.4(LIPA):c.479_480del (p.Leu160fs)	LIPA (L160fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1724570	NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)	LIPA (W44*)	Single nucleotide variant (nonsense +1 more)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 1723993	NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)	LIPA (K76*)	Single nucleotide variant (nonsense +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1685926	NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)	LIPA (L100* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GPathogenic
Select item 1685367	NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)	LIPA (L89P)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 1495192	NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)	LIPA (I262T +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 1455198	NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)	LIPA (W310* +1 more)	Single nucleotide variant (nonsense)	Wolman disease +1 more	GPathogenic
Select item 1339105	NM_000235.4(LIPA):c.925G>T (p.Asp309Tyr)	LIPA (D193Y +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 1323236	NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)	LIPA (L278fs +1 more)	Deletion (frameshift variant)	Wolman disease +2 more	GPathogenic/Likely pathogenic
Select item 1301704	NM_000235.4(LIPA):c.-2+36G>A	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency	GBenign
Select item 1216430	NM_000235.4(LIPA):c.676-72G>C	LIPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113491	NM_000235.4(LIPA):c.76C>T (p.Leu26=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +1 more	GLikely benign
Select item 1105624	NM_000235.4(LIPA):c.579G>A (p.Arg193=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 1057996	NM_000235.4(LIPA):c.1185G>A (p.Met395Ile)	LIPA (M279I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1039425	NM_000235.4(LIPA):c.140C>A (p.Pro47His)	LIPA (P47H)	Single nucleotide variant (missense variant +1 more)	Wolman disease	GUncertain significance
Select item 989899	NM_000235.4(LIPA):c.428+8T>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 989898	NM_000235.4(LIPA):c.676-25T>C	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 989897	NM_000235.4(LIPA):c.1068A>G (p.Leu356=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related condition +2 more	GLikely benign
Select item 989896	NM_000235.4(LIPA):c.1119G>A (p.Glu373=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 989895	NM_000235.4(LIPA):c.1171A>G (p.Ile391Val)	LIPA (I275V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983952	NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)	LIPA (E54*)	Single nucleotide variant (nonsense +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 983951	NM_000235.4(LIPA):c.805G>T (p.Glu269Ter)	LIPA (E153* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 983950	NM_000235.4(LIPA):c.815T>A (p.Leu272Ter)	LIPA (L156* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 983949	NM_000235.4(LIPA):c.826A>T (p.Arg276Ter)	LIPA (R160* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 962413	NM_000235.4(LIPA):c.746C>T (p.Thr249Ile)	LIPA (T133I +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 941071	NM_000235.4(LIPA):c.877A>C (p.Met293Leu)	LIPA (M177L +1 more)	Single nucleotide variant (missense variant)	Wolman disease	GUncertain significance
Select item 937141	NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)	LIPA (D236del +1 more)	Microsatellite (inframe_deletion)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 934943	NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)	LIPA (S174F +1 more)	Single nucleotide variant (missense variant)	Wolman disease	GLikely pathogenic
Select item 931956	NM_000235.4(LIPA):c.851C>T (p.Ser284Phe)	LIPA (S168F +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 880023	NM_000235.4(LIPA):c.667C>T (p.Leu223Phe)	LIPA (L107F +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 879960	NM_000235.4(LIPA):c.*557A>C	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 879959	NM_000235.4(LIPA):c.*608C>T	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GLikely benign
Select item 879919	NM_000235.4(LIPA):c.*1147C>G	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 879655	NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro)	LIPA (L381P +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 878266	NM_000235.4(LIPA):c.-2+7G>A	LIPA	Single nucleotide variant (5 prime UTR variant +1 more)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 878207	NM_000235.4(LIPA):c.1167T>C (p.Asn389=)	LIPA	Single nucleotide variant (synonymous variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 878206	NM_000235.4(LIPA):c.*184T>C	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 878205	NM_000235.4(LIPA):c.*383A>G	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 878138	NM_000235.4(LIPA):c.*842G>A	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 877227	NM_000235.4(LIPA):c.229+6G>A	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 877226	NM_000235.4(LIPA):c.391A>G (p.Thr131Ala)	LIPA (T131A +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 877170	NM_000235.4(LIPA):c.*458C>T	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 877169	NM_000235.4(LIPA):c.*494A>G	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 877103	NM_000235.4(LIPA):c.*921C>T	LIPA	Single nucleotide variant (3 prime UTR variant)	Lysosomal acid lipase deficiency	GUncertain significance
Select item 867231	NM_000235.4(LIPA):c.600G>A (p.Leu200=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 848267	NM_000235.4(LIPA):c.538+4T>A	LIPA	Single nucleotide variant (intron variant)	LIPA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 833070	NC_000010.11:g.(?_89228190)_(89228408_?)del	LIPA	Deletion	Wolman disease +1 more	GPathogenic
Select item 833019	NC_000010.11:g.(?_89214808)_(89216029_?)del	LIPA	Deletion	Wolman disease +1 more	GLikely pathogenic
Select item 830947	NC_000010.11:g.(?_89228180)_(89228418_?)del	LIPA	Deletion	Lysosomal acid lipase deficiency	GPathogenic
Select item 794202	NM_000235.4(LIPA):c.1066T>C (p.Leu356=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 791673	NM_000235.4(LIPA):c.894+7A>G	LIPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 766587	NM_000235.4(LIPA):c.318C>T (p.Phe106=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 748207	NM_000235.4(LIPA):c.1023C>T (p.Ser341=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GLikely benign
Select item 733954	NM_000235.4(LIPA):c.1050C>T (p.Val350=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 724983	NM_000235.4(LIPA):c.1032C>T (p.His344=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GLikely benign
Select item 695067	NM_000235.4(LIPA):c.149A>G (p.Glu50Gly)	LIPA (E50G)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695066	NM_000235.4(LIPA):c.158T>G (p.Val53Gly)	LIPA (V53G)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695065	NM_000235.4(LIPA):c.170A>T (p.Asp57Val)	LIPA (D57V)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695064	NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)	LIPA (D57G)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695063	NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)	LIPA (Q85K)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 695062	NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)	LIPA (Q85R)	Single nucleotide variant (missense variant +1 more)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 695061	NM_000235.4(LIPA):c.316T>A (p.Phe106Ile)	LIPA (F106I)	Single nucleotide variant (missense variant +1 more)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695060	NM_000235.4(LIPA):c.356A>G (p.Asn119Ser)	LIPA (N119S +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695059	NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)	LIPA (R121G +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 695058	NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)	LIPA (N7D +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 695057	NM_000235.4(LIPA):c.377C>T (p.Ser126Phe)	LIPA (S126F +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695056	NM_000235.4(LIPA):c.386A>C (p.His129Pro)	LIPA (H129P +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695055	NM_000235.4(LIPA):c.386A>G (p.His129Arg)	LIPA (H13R +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 695054	NM_000235.4(LIPA):c.417C>A (p.Phe139Leu)	LIPA (F23L +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695053	NM_000235.4(LIPA):c.435T>A (p.Asp145Glu)	LIPA (D145E +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695052	NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)	LIPA (L36P +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 695051	NM_000235.4(LIPA):c.526G>A (p.Gly176Ser)	LIPA (G60S +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695050	NM_000235.4(LIPA):c.605C>T (p.Pro202Leu)	LIPA (P202L +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695049	NM_000235.4(LIPA):c.863C>T (p.Thr288Ile)	LIPA (T172I +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695048	NM_000235.4(LIPA):c.866C>G (p.Ser289Cys)	LIPA (S289C +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695047	NM_000235.4(LIPA):c.871C>G (p.Gln291Glu)	LIPA (Q175E +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695046	NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)	LIPA (L178S +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GLikely pathogenic
Select item 695045	NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)	LIPA (A191D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 695044	NM_000235.4(LIPA):c.922T>G (p.Phe308Val)	LIPA (F192V +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695043	NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)	LIPA (G311R +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GLikely pathogenic
Select item 695042	NM_000235.4(LIPA):c.974C>T (p.Pro325Leu)	LIPA (P209L +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 695041	NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp)	LIPA (G342W +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695040	NM_000235.4(LIPA):c.1025G>T (p.Gly342Val)	LIPA (G226V +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695039	NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	LIPA (D229N +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 695038	NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn)	LIPA (I244N +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic
Select item 695037	NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)	LIPA (I253T +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 695036	NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)	LIPA (H374Y +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 695035	NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)	LIPA (R386S +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 695034	NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys)	LIPA (Y272C +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency	GLikely pathogenic

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