SMPD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1239649	NC_000011.10:g.6390089C>G	SMPD1	Single nucleotide variant	not provided	GBenign
Select item 1639918	NM_000543.5(SMPD1):c.93T>C (p.Leu31=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 553755	NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)	SMPD1 (W32*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 188840	NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	SMPD1 (W32*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 285418	NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)	SMPD1 (M33I)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 2436207	NM_000543.5(SMPD1):c.101G>A (p.Gly34Asp)	SMPD1 (G34D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2148645	NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)	SMPD1	Microsatellite (inframe_insertion +2 more)	Niemann-Pick disease, type B +2 more	GUncertain significance
Select item 2047190	NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)	SMPD1	Duplication (inframe_insertion +2 more)	not provided +2 more	GUncertain significance
Select item 968932	NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)	SMPD1	Insertion (inframe_insertion +2 more)	Niemann-Pick disease, type A +2 more	GBenign/Likely benign
Select item 598096	NM_000543.5(SMPD1):c.102C>G (p.Gly34=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 305194	NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)	SMPD1	Insertion (inframe_insertion +2 more)	Sphingomyelin/cholesterol lipidosis +3 more	GConflicting classifications of pathogenicity
Select item 2013337	NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)	SMPD1 (L35fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 459633	NM_000543.5(SMPD1):c.107_130del (p.Val36_Leu43del)	SMPD1	Deletion (inframe_deletion +2 more)	not provided +2 more	GLikely benign
Select item 256590	NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)	SMPD1	Deletion (inframe_deletion +2 more)	SMPD1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 193115	NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)	SMPD1 (L35V)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 193114	NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)	SMPD1	Deletion (non-coding transcript variant +2 more)	SMPD1-related disorder +3 more	GBenign/Likely benign
Select item 193113	NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type A +3 more	GBenign
Select item 813473	NM_000543.5(SMPD1):c.106dup (p.Val36fs)	SMPD1 (V36fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 1129284	NM_000543.5(SMPD1):c.105G>C (p.Leu35=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2503937	NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)	SMPD1 (V36fs)	Indel (frameshift variant +2 more)	Sphingomyelin/cholesterol lipidosis	GLikely pathogenic
Select item 2179174	NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)	SMPD1 (V36L)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 1170920	NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu)	SMPD1	Insertion (inframe_indel +2 more)	Niemann-Pick disease, type B +1 more	GBenign
Select item 3049324	NM_000543.5(SMPD1):c.108GCTGGC[10] (p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeu)	SMPD1	Microsatellite (inframe insertion +2 more)	SMPD1-related disorder	GLikely benign
Select item 1170921	NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)	SMPD1	Insertion (non-coding transcript variant +2 more)	Niemann-Pick disease, type B +1 more	GBenign
Select item 1090434	NM_000543.5(SMPD1):c.107_108delinsCT (p.Val36Ala)	SMPD1 (V36A)	Indel (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 992676	NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])	SMPD1	Microsatellite (inframe_insertion +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 987840	NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla)	SMPD1	Indel (inframe_indel +2 more)	not specified	GUncertain significance
Select item 971581	NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])	SMPD1	Microsatellite (inframe_insertion +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 813474	NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)	SMPD1 (V36fs)	Indel (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
Select item 661392	NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)	SMPD1	Microsatellite (inframe_insertion +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 529235	NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)	SMPD1	Insertion (inframe_insertion +2 more)	not specified +3 more	GBenign/Likely benign
Select item 496046	NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)	SMPD1 (L37fs)	Insertion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 93311	NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)	SMPD1 (V36A)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +4 more	GBenign
Select item 2096596	NM_000543.5(SMPD1):c.108G>T (p.Val36=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2077035	NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])	SMPD1	Microsatellite (inframe_deletion +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 1240768	NM_000543.5(SMPD1):c.108G>A (p.Val36=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 281329	NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)	SMPD1	Microsatellite (inframe_deletion +2 more)	Niemann-Pick disease, type B +3 more	GBenign
Select item 256592	NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])	SMPD1	Microsatellite (inframe_deletion +2 more)	Niemann-Pick disease, type B +4 more	GBenign
Select item 256591	NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])	SMPD1	Microsatellite (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 959328	NM_000543.5(SMPD1):c.110_116del (p.Leu37fs)	SMPD1 (L37fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 558821	NM_000543.5(SMPD1):c.113del (p.Ala38fs)	SMPD1 (A38fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 558820	NM_000543.5(SMPD1):c.113C>T (p.Ala38Val)	SMPD1 (A38V)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GUncertain significance
Select item 498150	NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu)	SMPD1 (A38E)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1095416	NM_000543.5(SMPD1):c.114G>T (p.Ala38=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 285415	NM_000543.5(SMPD1):c.114del (p.Leu39fs)	SMPD1 (L39fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1091586	NM_000543.5(SMPD1):c.115C>T (p.Leu39=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 551360	NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)	SMPD1 (A40P)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 2936296	NM_000543.5(SMPD1):c.120G>T (p.Ala40=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 2679032	NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)	SMPD1 (L41fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 551239	NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 2931087	NM_000543.5(SMPD1):c.126G>T (p.Ala42=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 1087861	NM_000543.5(SMPD1):c.126G>A (p.Ala42=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 551721	NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9])	SMPD1	Duplication (5 prime UTR variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 558823	NM_000543.5(SMPD1):c.132G>T (p.Ala44=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2123313	NM_000543.5(SMPD1):c.135G>A (p.Leu45=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1536818	NM_000543.5(SMPD1):c.135G>T (p.Leu45=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1125724	NM_000543.5(SMPD1):c.138G>A (p.Ala46=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 763115	NM_000543.5(SMPD1):c.138G>C (p.Ala46=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 193116	NM_000543.5(SMPD1):c.138G>T (p.Ala46=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 552493	NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 1924300	NM_000543.5(SMPD1):c.144T>G (p.Ala48=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 1458477	NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	SMPD1 (S50fs)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 2147029	NM_000543.5(SMPD1):c.147G>A (p.Leu49=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 499998	NM_000543.5(SMPD1):c.148T>C (p.Ser50Pro)	SMPD1 (S50P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 371029	NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)	SMPD1 (D51fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 1595645	NM_000543.5(SMPD1):c.150T>C (p.Ser50=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 1209797	NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	SMPD1 (D51V)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 2679045	NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)	SMPD1 (R53fs)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 2114377	NM_000543.5(SMPD1):c.153C>T (p.Asp51=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 3166641	NM_000543.5(SMPD1):c.155C>T (p.Ser52Phe)	SMPD1 (S52F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2163005	NM_000543.5(SMPD1):c.156T>C (p.Ser52=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2929538	NM_000543.5(SMPD1):c.162T>C (p.Val54=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1934237	NM_000543.5(SMPD1):c.164T>A (p.Leu55His)	SMPD1 (L55H)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 1725349	NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)	SMPD1 (W56fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
Select item 1353540	NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)	SMPD1 (W56*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 370727	NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)	SMPD1 (W56*)	Single nucleotide variant (5 prime UTR variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 2089544	NM_000543.5(SMPD1):c.171T>C (p.Ala57=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1779373	NM_000543.5(SMPD1):c.174G>C (p.Pro58=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1073151	NM_000543.5(SMPD1):c.175del (p.Ala59fs)	SMPD1 (A59fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 747531	NM_000543.5(SMPD1):c.174G>A (p.Pro58=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 1079846	NM_000543.5(SMPD1):c.186C>T (p.His62=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1451535	NM_000543.5(SMPD1):c.193dup (p.Ser65fs)	SMPD1 (S65fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 371218	NM_000543.5(SMPD1):c.193del (p.Ser65fs)	SMPD1 (S65fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +2 more	GPathogenic/Likely pathogenic
Select item 992677	NM_000543.5(SMPD1):c.199dup (p.Gln67fs)	SMPD1 (Q67fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 1082695	NM_000543.5(SMPD1):c.198C>T (p.Pro66=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +2 more	GLikely benign
Select item 371001	NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)	SMPD1 (Q67*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 992678	NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs)	SMPD1 (G68fs)	Indel (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 1456733	NM_000543.5(SMPD1):c.208_227del (p.Pro70fs)	SMPD1 (P70fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
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 529232	NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)	SMPD1 (A71T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2939170	NM_000543.5(SMPD1):c.213C>T (p.Ala71=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 2154803	NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)	SMPD1 (R72M)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 595017	NM_000543.5(SMPD1):c.221A>C (p.His74Pro)	SMPD1 (H74P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 785511	NM_000543.5(SMPD1):c.229G>A (p.Val77Met)	SMPD1 (V77M)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +2 more	GConflicting classifications of pathogenicity
Select item 2089760	NM_000543.5(SMPD1):c.234C>G (p.Pro78=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 593432	NM_000543.5(SMPD1):c.234C>T (p.Pro78=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 500518	NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)	SMPD1 (R79Q)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
Select item 370753	NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)	SMPD1 (R81*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 2114056	NM_000543.5(SMPD1):c.248del (p.Val83fs)	SMPD1 (V83fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic

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