ClinVar for MedGen (Select 78650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3600292	NM_000543.5(SMPD1):c.896C>T (p.Thr299Ile)	SMPD1 (T298I +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 3599950	NM_000543.5(SMPD1):c.1864_1877dup (p.Pro628fs)	SMPD1 (P321fs +3 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599949	NM_000543.5(SMPD1):c.1706dup (p.Gln570fs)	SMPD1 (Q570fs +3 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599947	NM_000543.5(SMPD1):c.1355del (p.Leu452fs)	SMPD1 (L451fs +3 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599946	NM_000543.5(SMPD1):c.1340+1G>A	SMPD1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599944	NM_000543.5(SMPD1):c.1264-2A>T	SMPD1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599942	NM_000543.5(SMPD1):c.1092-2A>T	SMPD1	Single nucleotide variant (splice acceptor variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599941	NM_000543.5(SMPD1):c.1054_1072dup (p.Glu358fs)	SMPD1 (K38fs +2 more)	Duplication (frameshift variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599940	NM_000543.5(SMPD1):c.846del (p.Ala283fs)	SMPD1 (A283fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599939	NM_000543.5(SMPD1):c.737G>A (p.Trp246Ter)	SMPD1 (W245* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3599938	NM_000543.5(SMPD1):c.527G>A (p.Trp176Ter)	SMPD1 (W175* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 3347672	NM_000543.5(SMPD1):c.1805G>C (p.Arg602Pro)	SMPD1 (R295P +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 3338296	NM_000543.5(SMPD1):c.1788T>A (p.Cys596Ter)	SMPD1 (C289* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GPathogenic
Select item 3248561	NM_000543.5(SMPD1):c.734_739del (p.Tyr245_Gly247delinsCys)	SMPD1	Deletion (inframe_indel +2 more)	Niemann-Pick disease, type A	GPathogenic
Select item 3244581	NC_000011.9:g.(?_6411829)_(6415837_?)dup	SMPD1	Duplication	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 3240543	NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)	SMPD1 (P198fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3240541	NM_000543.5(SMPD1):c.1771del (p.Arg591fs)	SMPD1 (R284fs +3 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 3240540	NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)	SMPD1 (Y244* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3240539	NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)	SMPD1 (Q291* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3240538	NM_000543.5(SMPD1):c.950del (p.Ala317fs)	SMPD1 (A316fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3065786	NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)	SMPD1 (L226V +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3064400	NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)	SMPD1 (A108V +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 2954153	NM_000543.5(SMPD1):c.921del (p.Lys307fs)	SMPD1 (K306fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2954037	NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)	SMPD1 (W277* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2953729	NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)	SMPD1 (W211C +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 2953725	NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)	SMPD1 (K306* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2953308	NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)	SMPD1 (C302fs +3 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2953011	NM_000543.5(SMPD1):c.925C>T (p.Leu309=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2952652	NM_000543.5(SMPD1):c.9C>G (p.Arg3=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2952535	NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)	SMPD1 (V102fs +2 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2952393	NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)	SMPD1 (R191S +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 2952378	NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)	SMPD1 (Y442del +3 more)	Microsatellite (inframe_deletion +1 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 2952371	NM_000543.5(SMPD1):c.531C>T (p.Asn177=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2952328	NM_000543.5(SMPD1):c.1486+19A>G	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2951747	NM_000543.5(SMPD1):c.1125C>G (p.Pro375=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2951531	NM_000543.5(SMPD1):c.1440A>C (p.Val480=)	SMPD1	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2951039	NM_000543.5(SMPD1):c.309C>T (p.Leu103=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950950	NM_000543.5(SMPD1):c.1340+2_1340+9del	SMPD1	Deletion (splice donor variant)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 2950853	NM_000543.5(SMPD1):c.726T>C (p.Gly242=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950850	NM_000543.5(SMPD1):c.1098G>A (p.Gly366=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950502	NM_000543.5(SMPD1):c.6C>T (p.Pro2=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950488	NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950238	NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)	SMPD1 (W438* +3 more)	Single nucleotide variant (nonsense +1 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2950073	NM_000543.5(SMPD1):c.918G>A (p.Arg306=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2950052	NM_000543.5(SMPD1):c.210T>C (p.Pro70=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2949937	NM_000543.5(SMPD1):c.33C>T (p.Ser11=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2949931	NM_000543.5(SMPD1):c.1487-14C>G	SMPD1 (P498R)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2949799	NM_000543.5(SMPD1):c.319-13C>G	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2949462	NM_000543.5(SMPD1):c.319-9C>T	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2949094	NM_000543.5(SMPD1):c.1098G>C (p.Gly366=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2948884	NM_000543.5(SMPD1):c.1486+1G>T	SMPD1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2948554	NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)	SMPD1 (G578D +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 2948434	NM_000543.5(SMPD1):c.435G>T (p.Val145=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947769	NM_000543.5(SMPD1):c.1340+20G>A	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947702	NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)	SMPD1 (P386L +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 2947684	NM_000543.5(SMPD1):c.1447C>T (p.Leu483=)	SMPD1	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947482	NM_000543.5(SMPD1):c.1092-9T>C	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947477	NM_000543.5(SMPD1):c.1674G>A (p.Leu558=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947399	NM_000543.5(SMPD1):c.1488T>C (p.Gly496=)	SMPD1 (V503A)	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947279	NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)	SMPD1 (A100V)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 2947269	NM_000543.5(SMPD1):c.787T>C (p.Leu263=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2947091	NM_000543.5(SMPD1):c.1092-10_1092-3dup	SMPD1	Duplication (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2946912	NM_000543.5(SMPD1):c.840C>T (p.Asp280=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2946873	NM_000543.5(SMPD1):c.625C>T (p.Leu209=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2946871	NM_000543.5(SMPD1):c.996C>A (p.Pro332=)	SMPD1 (P12H)	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2946533	NM_000543.5(SMPD1):c.1509T>C (p.Asp503=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2946067	NM_000543.5(SMPD1):c.1761C>T (p.Gly587=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2945386	NM_000543.5(SMPD1):c.1341-19T>C	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2945334	NM_000543.5(SMPD1):c.1486+11dup	SMPD1	Duplication (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2945294	NM_000543.5(SMPD1):c.339C>A (p.Arg113=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2944832	NM_000543.5(SMPD1):c.1809T>A (p.Ala603=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2944720	NM_000543.5(SMPD1):c.1263+9C>T	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2944675	NM_000543.5(SMPD1):c.1264-9C>T	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2944498	NM_000543.5(SMPD1):c.1487-19C>T	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2944119	NM_000543.5(SMPD1):c.564C>G (p.Pro188=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2943868	NM_000543.5(SMPD1):c.1290A>G (p.Pro430=)	SMPD1	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2943718	NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)	SMPD1 (N450fs +3 more)	Microsatellite (frameshift variant +1 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2943442	NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)	SMPD1 (W100* +2 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2943365	NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)	SMPD1 (N337fs +2 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2943043	NM_000543.5(SMPD1):c.420T>C (p.Phe140=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2942939	NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)	SMPD1 (W86* +2 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2942842	NM_000543.5(SMPD1):c.24C>A (p.Leu8=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2942835	NM_000543.5(SMPD1):c.1773T>A (p.Arg591=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2942669	NM_000543.5(SMPD1):c.49C>A (p.Arg17=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2942619	NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)	SMPD1 (A223fs +1 more)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2942373	NM_000543.5(SMPD1):c.156dup (p.Arg53fs)	SMPD1 (R53fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2942316	NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)	SMPD1 (L255fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 2941494	NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)	SMPD1 (I117fs +3 more)	Microsatellite (frameshift variant +1 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2941025	NM_000543.5(SMPD1):c.1487-5T>C	SMPD1 (L501S)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2940777	NM_000543.5(SMPD1):c.807del (p.Gly270fs)	SMPD1 (G269fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2940729	NM_000543.5(SMPD1):c.1264-19C>G	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2939720	NM_000543.5(SMPD1):c.1776G>A (p.Leu592=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2939476	NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)	SMPD1 (S249N +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 2939357	NM_000543.5(SMPD1):c.849A>G (p.Ala283=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2939332	NM_000543.5(SMPD1):c.708G>T (p.Pro236=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2939172	NM_000543.5(SMPD1):c.1486+17G>T	SMPD1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2939170	NM_000543.5(SMPD1):c.213C>T (p.Ala71=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2939005	NM_000543.5(SMPD1):c.834A>G (p.Thr278=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2938987	NM_000543.5(SMPD1):c.348C>A (p.Ser116=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2938710	NM_000543.5(SMPD1):c.579C>T (p.Pro193=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign

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