C2936797[trait identifier] AND "Invitae"[submitter] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558136	NM_000235.4(LIPA):c.1188G>A (p.Arg396=)	LIPA	Single nucleotide variant (synonymous variant)	Lysosomal acid lipase deficiency +2 more	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 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 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 282717	NM_000235.4(LIPA):c.1128C>T (p.Asp376=)	LIPA	Single nucleotide variant (synonymous variant)	not provided +2 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 989896	NM_000235.4(LIPA):c.1119G>A (p.Glu373=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 193567	NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +4 more	GConflicting classifications of pathogenicity
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 552474	NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	LIPA (L357P +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
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 794202	NM_000235.4(LIPA):c.1066T>C (p.Leu356=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
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 733954	NM_000235.4(LIPA):c.1050C>T (p.Val350=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 286308	NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly)	LIPA (D349G +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
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 724983	NM_000235.4(LIPA):c.1032C>T (p.His344=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GLikely benign
Select item 301572	NM_000235.4(LIPA):c.1026G>A (p.Gly342=)	LIPA	Single nucleotide variant (synonymous variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 555337	NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	LIPA (G342R +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
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 301573	NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)	LIPA (T337A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 301574	NM_000235.4(LIPA):c.967-13C>A	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 499076	NM_000235.4(LIPA):c.966+3A>T	LIPA	Single nucleotide variant (intron variant)	not provided +3 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 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 791673	NM_000235.4(LIPA):c.894+7A>G	LIPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 430634	NM_000235.4(LIPA):c.894G>C (p.Gln298His)	LIPA (Q298H +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 203361	NM_000235.4(LIPA):c.894G>A (p.Gln298=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related condition +6 more	GPathogenic/Likely pathogenic
Select item 556586	NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)	LIPA (Q298* +1 more)	Single nucleotide variant (nonsense)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 301575	NM_000235.4(LIPA):c.891C>T (p.Ser297=)	LIPA	Single nucleotide variant (synonymous variant)	Lysosomal acid lipase deficiency +5 more	GConflicting classifications of pathogenicity
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 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 282063	NM_000235.4(LIPA):c.846A>G (p.Thr282=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +3 more	GConflicting classifications of pathogenicity
Select item 550739	NM_000235.4(LIPA):c.822+1G>A	LIPA	Single nucleotide variant (splice donor variant)	Wolman disease +1 more	GLikely pathogenic
Select item 78	NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	LIPA (G266* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 301576	NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	LIPA (I252L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 301577	NM_000235.4(LIPA):c.713C>T (p.Ala238Val)	LIPA (A238V +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 553192	NM_000235.4(LIPA):c.684del (p.Phe228fs)	LIPA (F112fs +1 more)	Deletion (frameshift variant)	Lysosomal acid lipase deficiency +1 more	GPathogenic
Select item 498833	NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	LIPA (F228S +1 more)	Single nucleotide variant (missense variant)	LIPA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 301578	NM_000235.4(LIPA):c.676-14T>A	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
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 568571	NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	LIPA (D221G +1 more)	Single nucleotide variant (missense variant)	Wolman disease +4 more	GConflicting classifications of pathogenicity
Select item 301579	NM_000235.4(LIPA):c.616G>A (p.Val206Ile)	LIPA (V206I +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GUncertain significance
Select item 595545	NM_000235.4(LIPA):c.615C>G (p.Ser205=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 301580	NM_000235.4(LIPA):c.615C>T (p.Ser205=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 77	NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	LIPA (L200P +1 more)	Single nucleotide variant (missense variant)	Lysosomal acid lipase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 80	NM_000235.4(LIPA):c.594dup (p.Ala199fs)	LIPA (A199fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1105624	NM_000235.4(LIPA):c.579G>A (p.Arg193=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 594443	NM_000235.4(LIPA):c.539-5C>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 255610	NM_000235.4(LIPA):c.539-5C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease +4 more	GBenign
Select item 301581	NM_000235.4(LIPA):c.539-6T>C	LIPA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 557809	NM_000235.4(LIPA):c.538+6T>C	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency +1 more	GUncertain significance
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 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 552285	NM_000235.4(LIPA):c.482del (p.Asn161fs)	LIPA (N161fs +1 more)	Deletion (frameshift variant)	Wolman disease +1 more	GPathogenic/Likely 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 989899	NM_000235.4(LIPA):c.428+8T>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 554864	NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)	LIPA (W140* +1 more)	Single nucleotide variant (nonsense)	Lysosomal acid lipase deficiency +1 more	GPathogenic
Select item 289986	NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)	LIPA	Deletion (nonsense)	Wolman disease +2 more	GPathogenic
Select item 497624	NM_000235.4(LIPA):c.396C>G (p.Leu132=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 301582	NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)	LIPA (R127Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 528226	NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)	LIPA (R127W +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 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 556450	NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)	LIPA (M1fs +1 more)	Insertion (frameshift variant +1 more)	Wolman disease +2 more	GPathogenic/Likely pathogenic
Select item 598705	NM_000235.4(LIPA):c.342C>T (p.Asp114=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +2 more	GConflicting classifications of pathogenicity
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 554874	NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	LIPA (S103R)	Single nucleotide variant (missense variant +1 more)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 501531	NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)	LIPA (N98K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 88770	NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	LIPA (G87V)	Single nucleotide variant (missense variant +1 more)	Wolman disease +3 more	GPathogenic/Likely pathogenic
Select item 555658	NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	LIPA (H86Y)	Single nucleotide variant (missense variant +1 more)	Wolman disease +1 more	GConflicting classifications of pathogenicity
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 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 301583	NM_000235.4(LIPA):c.230-15A>G	LIPA	Single nucleotide variant (intron variant)	Lysosomal acid lipase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 558291	NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	LIPA (R65*)	Single nucleotide variant (nonsense +1 more)	Lysosomal acid lipase deficiency +1 more	GPathogenic
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 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 196238	NM_000235.4(LIPA):c.112-6C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease +2 more	GBenign
Select item 289737	NM_000235.4(LIPA):c.112-9T>C	LIPA	Single nucleotide variant (intron variant)	LIPA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 301584	NM_000235.4(LIPA):c.111+13A>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 648013	NM_000235.4(LIPA):c.111+1G>A	LIPA	Single nucleotide variant (intron variant +1 more)	Wolman disease +1 more	GPathogenic/Likely pathogenic
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 255612	NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)	LIPA (G23R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 195049	NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)	LIPA (T16P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 595978	NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)	LIPA (K2N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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

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Items: 91