ClinVar for MedGen (Select 120624) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244816	NC_000010.10:g.(?_73587751)_(73610978_?)del	PSAP	Deletion	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 3023537	NM_002778.4(PSAP):c.1539+18C>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3023277	NM_002778.4(PSAP):c.1350+17G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3017408	NM_002778.4(PSAP):c.577-7T>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3014845	NM_002778.4(PSAP):c.174+20A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3013381	NM_002778.4(PSAP):c.1192+13T>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3012789	NM_002778.4(PSAP):c.1317C>T (p.Gly439=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3008775	NM_002778.4(PSAP):c.330G>A (p.Val110=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3007980	NM_002778.4(PSAP):c.41-19dup	PSAP	Duplication (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3002467	NM_002778.4(PSAP):c.375+18G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3001804	NM_002778.4(PSAP):c.1193-9C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 3001414	NM_002778.4(PSAP):c.1192+17G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2997059	NM_002778.4(PSAP):c.1351-9_1351-5del	PSAP	Deletion (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2989682	NM_002778.4(PSAP):c.250-17C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2983587	NM_002778.4(PSAP):c.41-20C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2982533	NM_002778.4(PSAP):c.1539+17_1539+20del	PSAP	Deletion (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2976366	NM_002778.4(PSAP):c.910-13A>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2973865	NM_002778.4(PSAP):c.1351-16C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2972286	NM_002778.4(PSAP):c.576+11G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2970164	NM_002778.4(PSAP):c.1431+19T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2969336	NM_002778.4(PSAP):c.1193-18C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2966943	NM_002778.4(PSAP):c.1530C>G (p.Ala510=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2964248	NM_002778.4(PSAP):c.577-12C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2959796	NM_002778.4(PSAP):c.1539+20G>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2957428	NM_002778.4(PSAP):c.909+18G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2957411	NM_002778.4(PSAP):c.250-12_250-11del	PSAP	Microsatellite (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2919376	NM_002778.4(PSAP):c.250-9C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2915382	NM_002778.4(PSAP):c.1267C>T (p.Leu423=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2913942	NM_002778.4(PSAP):c.577-11C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2913601	NM_002778.4(PSAP):c.175-16G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2913190	NM_002778.4(PSAP):c.333C>T (p.Asp111=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2908191	NM_002778.4(PSAP):c.1193-17G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2907923	NM_002778.4(PSAP):c.792C>T (p.Ile264=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2906807	NM_002778.4(PSAP):c.450C>T (p.His150=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2902102	NM_002778.4(PSAP):c.1005+12T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2901093	NM_002778.4(PSAP):c.41-18C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2899008	NM_002778.4(PSAP):c.174+17T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2897626	NM_002778.4(PSAP):c.1005+19A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2894819	NM_002778.4(PSAP):c.909+12C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2892481	NM_002778.4(PSAP):c.41-16T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2891540	NM_002778.4(PSAP):c.1193-15T>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2891456	NM_002778.4(PSAP):c.1540-19G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2887856	NM_002778.4(PSAP):c.721-19T>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2884871	NM_002778.4(PSAP):c.1192+12G>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2879095	NM_002778.4(PSAP):c.1236C>T (p.Cys412=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2877748	NM_002778.4(PSAP):c.721-20A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2877048	NM_002778.4(PSAP):c.249+19G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2876572	NM_002778.4(PSAP):c.250-7C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2875260	NM_002778.4(PSAP):c.1192+14G>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2868269	NM_002778.4(PSAP):c.1192+12G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2866725	NM_002778.4(PSAP):c.1540-8_1540-7del	PSAP	Deletion (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2865266	NM_002778.4(PSAP):c.42T>C (p.Ala14=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2863521	NM_002778.4(PSAP):c.270G>A (p.Leu90=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2863086	NM_002778.4(PSAP):c.250-1G>C	PSAP	Single nucleotide variant (splice acceptor variant)	Sphingolipid activator protein 1 deficiency	GLikely pathogenic
Select item 2862619	NM_002778.4(PSAP):c.1350+20G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2859461	NM_002778.4(PSAP):c.291T>C (p.Leu97=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2857262	NM_002778.4(PSAP):c.41-18del	PSAP	Deletion (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2857261	NM_002778.4(PSAP):c.41-19A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2856792	NM_002778.4(PSAP):c.40+8C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2856734	NM_002778.4(PSAP):c.153C>G (p.Thr51=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2856585	NM_002778.4(PSAP):c.423C>A (p.Leu141=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2855883	NM_002778.4(PSAP):c.825A>G (p.Lys275=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2851407	NM_002778.4(PSAP):c.1350+12G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2846593	NM_002778.4(PSAP):c.607del (p.Gln203fs)	PSAP (Q203fs)	Deletion (frameshift variant)	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 2846277	NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter)	PSAP (E356* +2 more)	Single nucleotide variant (nonsense)	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 2841544	NM_002778.4(PSAP):c.1050G>T (p.Pro350=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2838886	NM_002778.4(PSAP):c.1005+13C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2837404	NM_002778.4(PSAP):c.504G>A (p.Val168=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2834617	NM_002778.4(PSAP):c.1540-8C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2833143	NM_002778.4(PSAP):c.909+13A>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2831290	NM_002778.4(PSAP):c.41-22_41-20del	PSAP	Microsatellite (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2830993	NM_002778.4(PSAP):c.342C>G (p.Leu114=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2830070	NM_002778.4(PSAP):c.1006-11G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2829694	NM_002778.4(PSAP):c.40+19A>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2828157	NM_002778.4(PSAP):c.250-16T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2822347	NM_002778.4(PSAP):c.721-5C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2822337	NM_002778.4(PSAP):c.57C>T (p.Val19=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2821928	NM_002778.4(PSAP):c.158G>A (p.Trp53Ter)	PSAP (W53*)	Single nucleotide variant (nonsense)	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 2820810	NM_002778.4(PSAP):c.648C>T (p.Ser216=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2820334	NM_002778.4(PSAP):c.390G>A (p.Glu130=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2820060	NM_002778.4(PSAP):c.477C>T (p.Ile159=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2820032	NM_002778.4(PSAP):c.1193-1G>C	PSAP	Single nucleotide variant (splice acceptor variant)	Sphingolipid activator protein 1 deficiency	GLikely pathogenic
Select item 2819835	NM_002778.4(PSAP):c.720+1G>A	PSAP	Single nucleotide variant (splice donor variant)	Sphingolipid activator protein 1 deficiency	GLikely pathogenic
Select item 2816556	NM_002778.4(PSAP):c.175-11C>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2816425	NM_002778.4(PSAP):c.1540-19G>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2816332	NM_002778.4(PSAP):c.250-10C>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2814629	NM_002778.4(PSAP):c.175-8T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2813434	NM_002778.4(PSAP):c.1006-11G>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2808761	NM_002778.4(PSAP):c.1006-9G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2808673	NM_002778.4(PSAP):c.1308T>G (p.Leu436=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2807211	NM_002778.4(PSAP):c.1006-16C>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2805699	NM_002778.4(PSAP):c.1053G>A (p.Lys351=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2800955	NM_002778.4(PSAP):c.1419del (p.Phe474fs)	PSAP (F474fs +2 more)	Deletion (frameshift variant)	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 2798690	NM_002778.4(PSAP):c.910-13A>T	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2787278	NM_002778.4(PSAP):c.1059G>C (p.Leu353=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2787105	NM_002778.4(PSAP):c.702C>T (p.Gly234=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2786013	NM_002778.4(PSAP):c.41-17G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2783722	NM_002778.4(PSAP):c.1432-6A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2778537	NM_002778.4(PSAP):c.720+16T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency	GLikely benign
Select item 2778415	NM_002778.4(PSAP):c.435A>G (p.Leu145=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency	GLikely benign

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