ClinVar for Gene (Select 3988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347629	NM_000235.4(LIPA):c.529_530del (p.Thr177fs)	LIPA (T177fs +1 more)	Deletion (frameshift variant)	LIPA-related disorder	GLikely pathogenic
Select item 3345972	NM_000235.4(LIPA):c.257A>T (p.His86Leu)	LIPA (H86L)	Single nucleotide variant (missense variant +1 more)	LIPA-related disorder	GUncertain significance
Select item 3340028	NM_000235.4(LIPA):c.254A>C (p.Gln85Pro)	LIPA (Q85P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339391	NM_000235.4(LIPA):c.883C>A (p.His295Asn)	LIPA (H179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338830	NM_000235.4(LIPA):c.229+1G>A	LIPA	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 3290806	NM_000235.4(LIPA):c.314G>T (p.Gly105Val)	LIPA (G105V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290804	NM_000235.4(LIPA):c.473T>G (p.Phe158Cys)	LIPA (F42C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3244815	NC_000010.10:g.(?_90988092)_(90997504_?)del	LIPA	Deletion	Wolman disease	GLikely pathogenic
Select item 3244814	NC_000010.10:g.(?_90974585)_(90975786_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244813	NC_000010.10:g.(?_90974585)_(90988175_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244812	NC_000010.10:g.(?_90974585)_(90974838_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3244811	NC_000010.10:g.(?_90974585)_(91007408_?)del	LIPA	Deletion	Wolman disease	GPathogenic
Select item 3239677	NM_000235.4(LIPA):c.663del (p.His222fs)	LIPA (H106fs +1 more)	Deletion (frameshift variant)	Cholesteryl ester storage disease	GLikely pathogenic
Select item 3230717	NM_000235.4(LIPA):c.877A>G (p.Met293Val)	LIPA (M177V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230716	NM_000235.4(LIPA):c.796G>A (p.Gly266Arg)	LIPA (G150R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230715	NM_000235.4(LIPA):c.739G>T (p.Val247Phe)	LIPA (V131F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230714	NM_000235.4(LIPA):c.690C>G (p.Asp230Glu)	LIPA (D114E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230712	NM_000235.4(LIPA):c.10C>T (p.Arg4Trp)	LIPA (R4W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230711	NM_000235.4(LIPA):c.1057G>A (p.Val353Ile)	LIPA (V237I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3230710	NM_000235.4(LIPA):c.1054G>A (p.Asp352Asn)	LIPA (D236N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119024	NM_000235.4(LIPA):c.550T>C (p.Phe184Leu)	LIPA (F184L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3063129	GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3	CH25H, IFIT1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3054679	NM_000235.4(LIPA):c.519T>C (p.His173=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related disorder	GLikely benign
Select item 3047928	NM_000235.4(LIPA):c.684T>C (p.Phe228=)	LIPA	Single nucleotide variant (synonymous variant)	LIPA-related disorder	GLikely benign
Select item 3026194	NM_000235.4(LIPA):c.52C>T (p.His18Tyr)	LIPA (H18Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022300	NM_000235.4(LIPA):c.823-14T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 3020482	NM_000235.4(LIPA):c.539-8T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 3016547	NM_000235.4(LIPA):c.16T>C (p.Leu6=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 3016090	NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 3013152	NM_000235.4(LIPA):c.676-19G>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 3012732	NM_000235.4(LIPA):c.429-18T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 3010319	NM_000235.4(LIPA):c.539-12T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 3009262	NM_000235.4(LIPA):c.591T>G (p.Phe197Leu)	LIPA (F197L +1 more)	Single nucleotide variant (missense variant)	Wolman disease	GUncertain significance
Select item 2998607	NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)	LIPA (Y59C)	Single nucleotide variant (missense variant +1 more)	Wolman disease	GUncertain significance
Select item 2994637	NM_000235.4(LIPA):c.723G>A (p.Lys241=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2993251	NM_000235.4(LIPA):c.894+17T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2991630	NM_000235.4(LIPA):c.894+11C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2988573	NM_000235.4(LIPA):c.369T>C (p.Asn123=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2981923	NM_000235.4(LIPA):c.230-2del	LIPA	Deletion (splice acceptor variant)	Wolman disease	GLikely pathogenic
Select item 2978226	NM_000235.4(LIPA):c.174A>G (p.Gly58=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2970153	NM_000235.4(LIPA):c.229+12C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2967261	NM_000235.4(LIPA):c.895-13A>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2957118	NM_000235.4(LIPA):c.675+13C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2918230	NM_000235.4(LIPA):c.675+19T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2917829	NM_000235.4(LIPA):c.966+15C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2916766	NM_000235.4(LIPA):c.230-20A>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2916086	NM_000235.4(LIPA):c.539-7C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2915696	NM_000235.4(LIPA):c.699T>C (p.Phe233=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2913250	NM_000235.4(LIPA):c.666T>A (p.His222Gln)	LIPA (H222Q +1 more)	Single nucleotide variant (missense variant)	Wolman disease	GUncertain significance
Select item 2910016	NM_000235.4(LIPA):c.229+11G>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2907975	NM_000235.4(LIPA):c.822+14T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2907126	NM_000235.4(LIPA):c.192C>T (p.Asn64=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2905678	NM_000235.4(LIPA):c.843A>T (p.Thr281=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2903781	NM_000235.4(LIPA):c.111+19T>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2900028	NM_000235.4(LIPA):c.615C>A (p.Ser205=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2899491	NM_000235.4(LIPA):c.158T>A (p.Val53Asp)	LIPA (V53D)	Single nucleotide variant (missense variant +1 more)	Wolman disease	GUncertain significance
Select item 2893695	NM_000235.4(LIPA):c.112-18C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2893349	NM_000235.4(LIPA):c.432T>C (p.Tyr144=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2890929	NM_000235.4(LIPA):c.538+17G>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2890181	NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)	LIPA (W44*)	Single nucleotide variant (nonsense +1 more)	Wolman disease	GPathogenic
Select item 2885986	NM_000235.4(LIPA):c.894+18G>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2884663	NM_000235.4(LIPA):c.718T>C (p.Leu240=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2882196	NM_000235.4(LIPA):c.822+7A>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2879483	NM_000235.4(LIPA):c.823-2A>G	LIPA	Single nucleotide variant (splice acceptor variant)	Wolman disease	GLikely pathogenic
Select item 2877630	NM_000235.4(LIPA):c.293_295del (p.Asn98_Leu99delinsIle)	LIPA	Deletion (inframe_indel +1 more)	Wolman disease	GPathogenic
Select item 2873196	NM_000235.4(LIPA):c.967-13C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2868036	NM_000235.4(LIPA):c.966+15C>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2867618	NM_000235.4(LIPA):c.895-20C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2865584	NM_000235.4(LIPA):c.245del (p.Val82fs)	LIPA (V82fs)	Deletion (frameshift variant +1 more)	Wolman disease	GPathogenic
Select item 2864250	NM_000235.4(LIPA):c.112-6C>A	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2862629	NM_000235.4(LIPA):c.823-14del	LIPA	Deletion (intron variant)	Wolman disease	GLikely benign
Select item 2860542	NM_000235.4(LIPA):c.366A>G (p.Gly122=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2859897	NM_000235.4(LIPA):c.538+20C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2858809	NM_000235.4(LIPA):c.892del (p.Gln298fs)	LIPA (Q182fs +1 more)	Deletion (frameshift variant)	Wolman disease	GPathogenic
Select item 2857228	NM_000235.4(LIPA):c.230-18A>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2855058	NM_000235.4(LIPA):c.229+13T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2846282	NM_000235.4(LIPA):c.138C>T (p.Phe46=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2842811	NM_000235.4(LIPA):c.823-1G>A	LIPA	Single nucleotide variant (splice acceptor variant)	Wolman disease	GLikely pathogenic
Select item 2841152	NM_000235.4(LIPA):c.428+12T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2839742	NM_000235.4(LIPA):c.895-20C>G	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2838099	NM_000235.4(LIPA):c.144T>C (p.Ser48=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2836288	NM_000235.4(LIPA):c.618_627del (p.Ala207fs)	LIPA (A91fs +1 more)	Deletion (frameshift variant)	Wolman disease	GPathogenic
Select item 2836042	NM_000235.4(LIPA):c.539-11T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2832971	NM_000235.4(LIPA):c.408G>A (p.Gln136=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2831155	NM_000235.4(LIPA):c.840T>C (p.Tyr280=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2828788	NM_000235.4(LIPA):c.967-17G>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2827216	NM_000235.4(LIPA):c.771T>C (p.Cys257=)	LIPA	Single nucleotide variant (synonymous variant)	Wolman disease	GLikely benign
Select item 2823492	NM_000235.4(LIPA):c.429-19T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2811291	NM_000235.4(LIPA):c.822+16del	LIPA	Deletion (intron variant)	Wolman disease	GLikely benign
Select item 2808179	NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)	LIPA (Q206* +1 more)	Single nucleotide variant (nonsense)	Wolman disease	GPathogenic
Select item 2808013	NM_000235.4(LIPA):c.429-15T>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2802953	NM_000235.4(LIPA):c.675+12C>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2785366	NM_000235.4(LIPA):c.33T>C (p.Cys11=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2785290	NM_000235.4(LIPA):c.230-16A>C	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign
Select item 2784427	NM_000235.4(LIPA):c.150A>G (p.Glu50=)	LIPA	Single nucleotide variant (synonymous variant +1 more)	Wolman disease	GLikely benign
Select item 2784188	NM_000235.4(LIPA):c.966+12A>T	LIPA	Single nucleotide variant (intron variant)	Wolman disease	GLikely benign

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