"GeneDx"[submitter] AND "SMPD1"[gene] - ClinVar

Search results

Items: 91

	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 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 1239649	NC_000011.10:g.6390089C>G	SMPD1	Single nucleotide variant	not provided	GBenign
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 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 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 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 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 193113	NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type B +3 more	GBenign
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 971581	NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])	SMPD1	Microsatellite (inframe_insertion +2 more)	Niemann-Pick disease, type B +2 more	GConflicting classifications of pathogenicity
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 93311	NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)	SMPD1 (V36A)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
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 3368565	NM_000543.5(SMPD1):c.263A>G (p.Asn88Ser)	SMPD1 (N88S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1282901	NM_000543.5(SMPD1):c.319-59G>A	SMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 593055	NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)	SMPD1 (R113C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167708	NM_000543.5(SMPD1):c.354del (p.Ile119fs)	SMPD1 (I118fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type B +2 more	GPathogenic/Likely pathogenic
Select item 195087	NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)	SMPD1 (P187S +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GBenign
Select item 1173966	NM_000543.5(SMPD1):c.605G>A (p.Arg202His)	SMPD1 (R201H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93319	NM_000543.5(SMPD1):c.636T>C (p.Asp212=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +3 more	GBenign
Select item 421981	NM_000543.5(SMPD1):c.649G>T (p.Glu217Ter)	SMPD1 (E217* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 281046	NM_000543.5(SMPD1):c.714A>G (p.Ala238=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 291201	NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)	SMPD1 (Y245H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 100731	NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	SMPD1 (G247S +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 93320	NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	SMPD1 (D253H +1 more)	Single nucleotide variant (missense variant +2 more)	Sphingomyelin/cholesterol lipidosis +3 more	GPathogenic/Likely pathogenic
Select item 195086	NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	SMPD1 (L262fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 286248	NM_000543.5(SMPD1):c.807C>T (p.Ala269=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 305199	NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)	SMPD1 (G270S +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
Select item 280985	NM_000543.5(SMPD1):c.813T>C (p.Pro271=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1311866	NM_000543.5(SMPD1):c.856G>A (p.Val286Ile)	SMPD1 (V285I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 195085	NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	SMPD1 (R291H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 195091	NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)	SMPD1 (R296Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2989	NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	SMPD1 (L304P +1 more)	Single nucleotide variant	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 291287	NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)	SMPD1 (R341C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 291288	NM_000543.5(SMPD1):c.1037C>T (p.Ala346Val)	SMPD1 (R26* +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 879582	NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)	SMPD1 (P353L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 93310	NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	SMPD1 (P37L)	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +5 more	GBenign/Likely benign
Select item 965430	NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)	SMPD1 (R360H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1245812	NM_000543.5(SMPD1):c.1091+157G>C	SMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243076	NM_000543.5(SMPD1):c.1091+194dup	SMPD1	Duplication (intron variant)	not provided	GBenign
Select item 1247412	NM_000543.5(SMPD1):c.1091+195dup	SMPD1	Duplication (intron variant)	not provided	GBenign
Select item 1188370	NM_000543.5(SMPD1):c.1091+194T>A	SMPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283629	NM_000543.5(SMPD1):c.1091+278G>A	SMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 93312	NM_000543.5(SMPD1):c.1092-1G>C	SMPD1	Single nucleotide variant (splice acceptor variant +1 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 288073	NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	SMPD1 (Y369C +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 554977	NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	SMPD1 (R378H +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 289909	NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys)	SMPD1 (R389C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3375743	NM_000543.5(SMPD1):c.1196C>T (p.Thr399Met)	SMPD1 (T398M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1248871	NM_000543.5(SMPD1):c.1264-84G>A	SMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707296	NM_000543.5(SMPD1):c.1264-78A>G	SMPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379505	NM_000543.5(SMPD1):c.1264-1G>A	SMPD1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type B +2 more	GPathogenic/Likely pathogenic
Select item 2992	NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	SMPD1 (H423Y +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 432163	NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)	SMPD1 (G426S +3 more)	Single nucleotide variant (missense variant +1 more)	Sphingomyelin/cholesterol lipidosis +3 more	GPathogenic/Likely pathogenic
Select item 2993	NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	SMPD1 (R443* +3 more)	Single nucleotide variant (nonsense +1 more)	Sphingomyelin/cholesterol lipidosis +4 more	GPathogenic
Select item 502788	NM_000543.5(SMPD1):c.1337C>G (p.Ala446Gly)	SMPD1 (A446G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 554055	NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)	SMPD1 (A454V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 385606	NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	SMPD1 (R476Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 189075	NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	SMPD1 (P477L +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 235490	NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	SMPD1 (A487V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 445832	NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	SMPD1 (G492S +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +5 more	GUncertain significance
Select item 1208159	NM_000543.5(SMPD1):c.1486+26C>T	SMPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177462	NM_000543.5(SMPD1):c.1487-36C>T	SMPD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 167712	NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	SMPD1 (R498H +4 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of metabolism/homeostasis +4 more	GPathogenic/Likely pathogenic
Select item 2980	NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)	APBB1, SMPD1 (R498L +4 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +4 more	GPathogenic/Likely pathogenic
Select item 2413049	NM_000543.5(SMPD1):c.1519_1520del (p.Ser507fs)	SMPD1 (S200fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 93317	NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)	SMPD1 (G508R +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GBenign
Select item 498027	NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)	SMPD1 (V512M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GLikely benign
Select item 663763	NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)	SMPD1 (H472R +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 198094	NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)	SMPD1 (E517V +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +4 more	GConflicting classifications of pathogenicity
Select item 289949	NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 372512	NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg)	SMPD1 (L521R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 198092	NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)	SMPD1 (P533L +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 93318	NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	SMPD1 (R542* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305207	NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)	SMPD1 (R542Q +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GBenign/Likely benign
Select item 596316	NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)	SMPD1 (V559I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256593	NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 235264	NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)	SMPD1 (T588M +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GBenign/Likely benign
Select item 370328	NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)	SMPD1 (A290fs +3 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 3378235	NM_000543.5(SMPD1):c.1813A>G (p.Ser605Gly)	SMPD1 (S298G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 198093	NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	APBB1, SMPD1 (R610del +3 more)	Microsatellite (inframe_deletion +2 more)	not specified +3 more	GPathogenic
Select item 305208	NM_000543.5(SMPD1):c.*45G>A	SMPD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305209	NM_000543.5(SMPD1):c.*74A>C	SMPD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305210	NM_000543.5(SMPD1):c.*91C>T	SMPD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305212	NM_000543.5(SMPD1):c.*294G>C	SMPD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 91