SMPD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 1239649	NC_000011.10:g.6390089C>G	SMPD1	Single nucleotide variant	not provided	GBenign
Select item 2921607	NC_000011.10:g.6390221_6390884del	LOC130005193, SMPD1	Deletion	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 1707204	NC_000011.10:g.6390282G>A	LOC130005193, SMPD1	Single nucleotide variant	not provided	GLikely benign
Select item 1212653	NC_000011.10:g.6390344G>C	LOC130005193, SMPD1	Single nucleotide variant	not provided	GLikely benign
Select item 1294218	NC_000011.10:g.6390370C>G	LOC130005193, SMPD1	Single nucleotide variant	not provided	GBenign
Select item 1187574	NC_000011.10:g.6390467G>A	SMPD1, LOC130005193	Single nucleotide variant	not provided	GLikely benign
Select item 305192	NM_000543.5(SMPD1):c.-45G>C	LOC130005193, SMPD1	Single nucleotide variant (5 prime UTR variant +1 more)	Niemann-Pick disease, type A	GLikely benign
Select item 879528	NM_000543.5(SMPD1):c.-39A>T	LOC130005193, SMPD1	Single nucleotide variant (5 prime UTR variant +1 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 193117	NM_000543.5(SMPD1):c.-12G>A	LOC130005193, SMPD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 553962	NM_000543.5(SMPD1):c.7del (p.Arg3fs)	LOC130005193, SMPD1 (R3fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
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 2679041	NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)	LOC130005193, SMPD1 (Y4fs)	Insertion (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 281886	NM_000543.5(SMPD1):c.8G>A (p.Arg3His)	LOC130005193, SMPD1 (R3H)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
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 1138900	NM_000543.5(SMPD1):c.9C>T (p.Arg3=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 991120	NM_000543.5(SMPD1):c.10T>C (p.Tyr4His)	LOC130005193, SMPD1 (Y4H)	Single nucleotide variant (missense variant +2 more)	Sphingomyelin/cholesterol lipidosis	GUncertain significance
Select item 2679040	NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)	SMPD1, LOC130005193 (Q10fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
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 991121	NM_000543.5(SMPD1):c.26G>T (p.Arg9Leu)	LOC130005193, SMPD1 (R9L)	Single nucleotide variant (missense variant +2 more)	Sphingomyelin/cholesterol lipidosis	GUncertain significance
Select item 550117	NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	LOC130005193, SMPD1 (Q10*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 1627584	NM_000543.5(SMPD1):c.30G>A (p.Gln10=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +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 1460100	NM_000543.5(SMPD1):c.39del (p.Arg14fs)	LOC130005193, SMPD1 (R14fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 1095572	NM_000543.5(SMPD1):c.36C>T (p.Cys12=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 593157	NM_000543.5(SMPD1):c.39C>T (p.Pro13=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1386053	NM_000543.5(SMPD1):c.43del (p.Ser15fs)	LOC130005193, SMPD1 (S15fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 2004815	NM_000543.5(SMPD1):c.45C>T (p.Ser15=)	LOC130005193, 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 2150799	NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)	LOC130005193, SMPD1 (R17Q)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 552301	NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)	SMPD1, LOC130005193 (E18*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 992675	NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)	LOC130005193, SMPD1 (Q21fs)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 594762	NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)	SMPD1, LOC130005193 (Q19R)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 558404	NM_000543.5(SMPD1):c.56del (p.Gln19fs)	LOC130005193, SMPD1 (Q19fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GConflicting classifications of pathogenicity
Select item 593927	NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg)	LOC130005193, SMPD1 (G20R)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +3 more	GUncertain significance
Select item 2921662	NM_000543.5(SMPD1):c.60A>G (p.Gly20=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 554810	NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	LOC130005193, SMPD1 (Q21*)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 305193	NM_000543.5(SMPD1):c.66C>T (p.Asp22=)	SMPD1, LOC130005193	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GConflicting classifications of pathogenicity
Select item 2018848	NM_000543.5(SMPD1):c.69del (p.Thr24fs)	LOC130005193, SMPD1 (T24fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 1540712	NM_000543.5(SMPD1):c.72C>T (p.Thr24=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 288348	NM_000543.5(SMPD1):c.72C>A (p.Thr24=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 594890	NM_000543.5(SMPD1):c.75C>T (p.Ala25=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1760211	NM_000543.5(SMPD1):c.76G>A (p.Gly26Arg)	LOC130005193, SMPD1 (G26R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 551367	NM_000543.5(SMPD1):c.84del (p.Gly29fs)	LOC130005193, SMPD1 (G29fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +2 more	GPathogenic
Select item 593169	NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	LOC130005193, SMPD1 (P28L)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1131920	NM_000543.5(SMPD1):c.84C>G (p.Pro28=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1122363	NM_000543.5(SMPD1):c.84C>T (p.Pro28=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +1 more	GLikely benign
Select item 1555560	NM_000543.5(SMPD1):c.90C>T (p.Leu30=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 595765	NM_000543.5(SMPD1):c.90C>A (p.Leu30=)	LOC130005193, SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 B +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 +1 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)	Niemann-Pick disease, type A +3 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)	not provided +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 B +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305194	NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)	SMPD1	Insertion (inframe_insertion +2 more)	not provided +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)	Niemann-Pick disease, type B +2 more	GLikely benign
Select item 256590	NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)	SMPD1	Deletion (inframe_deletion +2 more)	not specified +4 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193114	NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)	SMPD1	Deletion (inframe_deletion +2 more)	not specified +2 more	GBenign
Select item 193113	NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)	SMPD1	Deletion (inframe_deletion +2 more)	not specified +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 B +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 (5 prime UTR variant +1 more)	SMPD1-related disorder	GLikely benign
Select item 1170921	NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)	SMPD1	Insertion (inframe_insertion +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 A +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 +2 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 B +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 +3 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 A +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 B +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)	not specified +3 more	GBenign
Select item 256591	NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])	SMPD1	Microsatellite (inframe_deletion +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)	not provided +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)	Niemann-Pick disease, type A +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 A +1 more	GLikely benign
Select item 3347783	NM_000543.5(SMPD1):c.116_140delinsCGGC (p.Leu39_Leu47delinsProAla)	SMPD1	Indel (inframe_indel +2 more)	SMPD1-related disorder	GUncertain significance
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 A +1 more	GLikely benign

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