"Ambry Genetics"[submitter] AND "LIPA"[gene] - ClinVar - NCBI

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	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 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 2451678	NM_000235.4(LIPA):c.1170A>G (p.Lys390=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2556871	NM_000235.4(LIPA):c.1158G>T (p.Arg386Ser)	LIPA (R270S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735227	NM_000235.4(LIPA):c.1155G>C (p.Trp385Cys)	LIPA (W269C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1734512	NM_000235.4(LIPA):c.1152T>C (p.Pro384=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 1091073	NM_000235.4(LIPA):c.1110G>A (p.Pro370=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related condition +2 more	GLikely benign
Select item 1794256	NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)	LIPA (P370A +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 1793074	NM_000235.4(LIPA):c.1103G>A (p.Ser368Asn)	LIPA (S252N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451676	NM_000235.4(LIPA):c.1085A>G (p.Asn362Ser)	LIPA (N246S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 796178	NM_000235.4(LIPA):c.1083C>T (p.Thr361=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 594935	NM_000235.4(LIPA):c.1077G>A (p.Gln359=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GConflicting classifications of pathogenicity
Select item 1783811	NM_000235.4(LIPA):c.1072A>C (p.Thr358Pro)	LIPA (T242P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 598726	NM_000235.4(LIPA):c.1056C>T (p.Asp352=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 1776185	NM_000235.4(LIPA):c.1048G>C (p.Val350Leu)	LIPA (V234L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1448352	NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile)	LIPA (L231I +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
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 595887	NM_000235.4(LIPA):c.1032C>G (p.His344Gln)	LIPA (H344Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2477586	NM_000235.4(LIPA):c.1030C>T (p.His344Tyr)	LIPA (H228Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1792362	NM_000235.4(LIPA):c.1008G>T (p.Pro336=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 765085	NM_000235.4(LIPA):c.1008G>A (p.Pro336=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1787481	NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)	LIPA (P220L +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 2586382	NM_000235.4(LIPA):c.999G>A (p.Met333Ile)	LIPA (M333I +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 2538482	NM_000235.4(LIPA):c.977C>G (p.Pro326Arg)	LIPA (P210R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767381	NM_000235.4(LIPA):c.955C>T (p.His319Tyr)	LIPA (H203Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2447027	NM_000235.4(LIPA):c.945G>T (p.Lys315Asn)	LIPA (K315N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1006708	NM_000235.4(LIPA):c.904T>G (p.Phe302Val)	LIPA (F186V +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 1765354	NM_000235.4(LIPA):c.898G>A (p.Val300Ile)	LIPA (V184I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 2399827	NM_000235.4(LIPA):c.889A>T (p.Ser297Cys)	LIPA (S181C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198700	NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)	LIPA (S297G +1 more)	Single nucleotide variant (missense variant)	LIPA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 289532	NM_000235.4(LIPA):c.885C>T (p.His295=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GConflicting classifications of pathogenicity
Select item 288701	NM_000235.4(LIPA):c.870G>A (p.Val290=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GConflicting classifications of pathogenicity
Select item 2586384	NM_000235.4(LIPA):c.855T>A (p.Pro285=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763766	NM_000235.4(LIPA):c.852T>C (p.Ser284=)	LIPA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1585764	NM_000235.4(LIPA):c.852T>G (p.Ser284=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
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 2566142	NM_000235.4(LIPA):c.832G>A (p.Asp278Asn)	LIPA (D278N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 594379	NM_000235.4(LIPA):c.807G>C (p.Glu269Asp)	LIPA (E269D +1 more)	Single nucleotide variant (missense variant)	Wolman disease +2 more	GUncertain significance
Select item 198408	NM_000235.4(LIPA):c.756A>C (p.Ile252=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GBenign/Likely benign
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 1759183	NM_000235.4(LIPA):c.749A>G (p.His250Arg)	LIPA (H134R +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 500824	NM_000235.4(LIPA):c.749A>C (p.His250Pro)	LIPA (H250P +1 more)	Single nucleotide variant (missense variant)	Wolman disease +2 more	GUncertain significance
Select item 758346	NM_000235.4(LIPA):c.744C>T (p.Cys248=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 1568960	NM_000235.4(LIPA):c.738C>T (p.His246=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 2451680	NM_000235.4(LIPA):c.733A>T (p.Thr245Ser)	LIPA (T245S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757917	NM_000235.4(LIPA):c.724T>C (p.Trp242Arg)	LIPA (W126R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 500649	NM_000235.4(LIPA):c.714G>A (p.Ala238=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1756931	NM_000235.4(LIPA):c.705C>T (p.Pro235=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 1756098	NM_000235.4(LIPA):c.690C>A (p.Asp230Glu)	LIPA (D114E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1131526	NM_000235.4(LIPA):c.669C>T (p.Leu223=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
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 1085168	NM_000235.4(LIPA):c.657A>G (p.Leu219=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 1127911	NM_000235.4(LIPA):c.654A>G (p.Arg218=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 2612647	NM_000235.4(LIPA):c.637A>G (p.Met213Val)	LIPA (M213V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 598503	NM_000235.4(LIPA):c.618C>A (p.Val206=)	LIPA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594229	NM_000235.4(LIPA):c.618C>T (p.Val206=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +2 more	GConflicting classifications of pathogenicity
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 1751719	NM_000235.4(LIPA):c.611C>T (p.Ala204Val)	LIPA (A204V +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GConflicting classifications of pathogenicity
Select item 1751071	NM_000235.4(LIPA):c.600G>C (p.Leu200=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease +1 more	GLikely benign
Select item 1750311	NM_000235.4(LIPA):c.588G>A (p.Met196Ile)	LIPA (M196I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1448175	NM_000235.4(LIPA):c.558G>T (p.Gln186His)	LIPA (Q70H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 728423	NM_000235.4(LIPA):c.539-6_539-5delinsCT	LIPA	Indel (intron variant)	Wolman disease +1 more	GBenign/Likely benign
Select item 255610	NM_000235.4(LIPA):c.539-5C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease +4 more	GBenign
Select item 2586381	NM_000235.4(LIPA):c.517C>T (p.His173Tyr)	LIPA (H173Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745472	NM_000235.4(LIPA):c.511G>T (p.Val171Leu)	LIPA (V55L +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GUncertain significance
Select item 596346	NM_000235.4(LIPA):c.483T>C (p.Asn161=)	LIPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498316	NM_000235.4(LIPA):c.449A>G (p.Tyr150Cys)	LIPA (Y150C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1740394	NM_000235.4(LIPA):c.440T>C (p.Met147Thr)	LIPA (M147T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451679	NM_000235.4(LIPA):c.431A>T (p.Tyr144Phe)	LIPA (Y28F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2488352	NM_000235.4(LIPA):c.398C>T (p.Ser133Leu)	LIPA (S17L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2536029	NM_000235.4(LIPA):c.394C>G (p.Leu132Val)	LIPA (L132V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735014	NM_000235.4(LIPA):c.379C>G (p.Arg127Gly)	LIPA (R11G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1731458	NM_000235.4(LIPA):c.343G>A (p.Val115Met)	LIPA (V115M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 1730285	NM_000235.4(LIPA):c.332C>A (p.Ala111Asp)	LIPA (A111D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2237330	NM_000235.4(LIPA):c.325G>A (p.Ala109Thr)	LIPA (A109T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2171228	NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)	LIPA (N101S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1126976	NM_000235.4(LIPA):c.288C>T (p.Val96=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +1 more	GLikely benign
Select item 595140	NM_000235.4(LIPA):c.279T>C (p.Ser93=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 753522	NM_000235.4(LIPA):c.265C>T (p.Leu89=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1160613	NM_000235.4(LIPA):c.264G>A (p.Leu88=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +1 more	GLikely benign
Select item 1568209	NM_000235.4(LIPA):c.246C>T (p.Val82=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease +1 more	GLikely benign
Select item 1787752	NM_000235.4(LIPA):c.220T>C (p.Ser74Pro)	LIPA (S74P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2477935	NM_000235.4(LIPA):c.206G>A (p.Gly69Glu)	LIPA (G69E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1785050	NM_000235.4(LIPA):c.204T>C (p.His68=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1783952	NM_000235.4(LIPA):c.198T>A (p.Ile66=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1783199	NM_000235.4(LIPA):c.194G>A (p.Arg65Gln)	LIPA (R65Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774580	NM_000235.4(LIPA):c.152A>G (p.Tyr51Cys)	LIPA (Y51C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance

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