"PreventionGenetics, part of Exact Sciences"[submitter] AND "SMPD1"[ge - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281886	NM_000543.5(SMPD1):c.8G>A (p.Arg3His)	SMPD1, LOC130005193 (R3H)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550117	NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	LOC130005193, SMPD1 (Q10*)	Single nucleotide variant (nonsense +2 more)	SMPD1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 594762	NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)	LOC130005193, SMPD1 (Q19R)	Single nucleotide variant (missense variant +2 more)	not provided +4 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)	Niemann-Pick disease, type A +3 more	GUncertain significance
Select item 593169	NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	LOC130005193, SMPD1 (P28L)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +4 more	GConflicting classifications of pathogenicity
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 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 256590	NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type B +5 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)	not specified +3 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 971581	NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])	SMPD1	Microsatellite (inframe_insertion +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 93311	NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)	SMPD1 (V36A)	Single nucleotide variant (missense variant +2 more)	not specified +4 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 305196	NM_000543.5(SMPD1):c.297C>G (p.Thr99=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +5 more	GConflicting classifications of pathogenicity
Select item 1099750	NM_000543.5(SMPD1):c.318+10G>C	SMPD1	Single nucleotide variant (intron variant)	SMPD1-related disorder +2 more	GLikely benign
Select item 497622	NM_000543.5(SMPD1):c.319-5T>C	SMPD1	Single nucleotide variant (intron variant)	SMPD1-related disorder +3 more	GConflicting classifications of pathogenicity
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 +4 more	GConflicting classifications of pathogenicity
Select item 305197	NM_000543.5(SMPD1):c.349G>A (p.Val117Met)	SMPD1 (V117M +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GConflicting classifications of pathogenicity
Select item 291102	NM_000543.5(SMPD1):c.373C>T (p.Leu125=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1087904	NM_000543.5(SMPD1):c.393C>T (p.Ala131=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +3 more	GLikely benign
Select item 287033	NM_000543.5(SMPD1):c.441G>A (p.Val147=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +5 more	GConflicting classifications of pathogenicity
Select item 1090804	NM_000543.5(SMPD1):c.591T>C (p.Gly197=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +3 more	GLikely benign
Select item 1661053	NM_000543.5(SMPD1):c.627G>C (p.Leu209=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +2 more	GLikely benign
Select item 93319	NM_000543.5(SMPD1):c.636T>C (p.Asp212=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 1126474	NM_000543.5(SMPD1):c.675C>T (p.Asp225=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +2 more	GLikely benign
Select item 1671835	NM_000543.5(SMPD1):c.681G>C (p.Leu227=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +2 more	GLikely benign
Select item 500493	NM_000543.5(SMPD1):c.708G>A (p.Pro236=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 305198	NM_000543.5(SMPD1):c.729C>T (p.Ala243=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +4 more	GConflicting classifications of pathogenicity
Select item 291201	NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)	SMPD1 (Y245H +1 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +1 more	GUncertain significance
Select item 289880	NM_000543.5(SMPD1):c.762G>A (p.Leu254=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 +3 more	GConflicting classifications of pathogenicity
Select item 195085	NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	SMPD1 (R291H +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +6 more	GUncertain significance
Select item 712836	NM_000543.5(SMPD1):c.909A>G (p.Ala303=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
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 +2 more	GLikely benign
Select item 2155669	NM_000543.5(SMPD1):c.995C>A (p.Pro332His)	SMPD1 (P12T +2 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type B +2 more	GConflicting classifications of pathogenicity
Select item 291287	NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)	SMPD1 (R341C +1 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +1 more	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 +1 more	GUncertain significance
Select item 93310	NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	SMPD1 (P37L)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1032424	NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys)	SMPD1 (R360C +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GUncertain significance
Select item 1803947	NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)	SMPD1 (G44S +2 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 3045725	NM_000543.5(SMPD1):c.1091+26G>A	SMPD1 (E373K)	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder	GLikely benign
Select item 1136005	NM_000543.5(SMPD1):c.1125C>T (p.Pro375=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 496881	NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe)	SMPD1 (L379F +2 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +1 more	GUncertain significance
Select item 370363	NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)	SMPD1 (L382fs +2 more)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 1534142	NM_000543.5(SMPD1):c.1194C>A (p.Ser398=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +2 more	GLikely benign
Select item 1579863	NM_000543.5(SMPD1):c.1227G>T (p.Val409=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +2 more	GLikely benign
Select item 1147327	NM_000543.5(SMPD1):c.1227G>C (p.Val409=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +2 more	GLikely benign
Select item 3048432	NM_000543.5(SMPD1):c.1263A>G (p.Lys421=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder	GLikely benign
Select item 879583	NM_000543.5(SMPD1):c.1335A>G (p.Val445=)	SMPD1	Single nucleotide variant (synonymous variant +1 more)	SMPD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 497294	NM_000543.5(SMPD1):c.1341-9T>C	SMPD1	Single nucleotide variant (intron variant)	SMPD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 93314	NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)	SMPD1 (L473fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 93315	NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	SMPD1 (R476W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 385606	NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	SMPD1 (R476Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 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 +6 more	GUncertain significance
Select item 198095	NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	SMPD1 (R498C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 93317	NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)	SMPD1 (G508R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign
Select item 1578620	NM_000543.5(SMPD1):c.1527C>T (p.Ser509=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +2 more	GLikely benign
Select item 549947	NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	SMPD1 (S510F +3 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 498027	NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)	SMPD1 (V512M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 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)	not provided +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3046307	NM_000543.5(SMPD1):c.1556A>T (p.Tyr519Phe)	SMPD1 (Y212F +3 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder	GUncertain significance
Select item 1107268	NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +2 more	GLikely benign
Select item 289949	NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3029176	NM_000543.5(SMPD1):c.1586C>T (p.Pro529Leu)	SMPD1 (P222L +3 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder	GUncertain significance
Select item 597455	NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289948	NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	SMPD1 (G530A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2201074	NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)	SMPD1 (I488T +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GUncertain significance
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 +4 more	GBenign/Likely benign
Select item 1167663	NM_000543.5(SMPD1):c.1626A>C (p.Arg542=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +2 more	GBenign/Likely benign
Select item 1620092	NM_000543.5(SMPD1):c.1653G>A (p.Leu551=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +2 more	GLikely 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 +3 more	GConflicting classifications of pathogenicity
Select item 598409	NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 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 +4 more	GBenign/Likely benign
Select item 1085815	NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder +2 more	GLikely benign
Select item 198093	NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	APBB1, SMPD1 (R610del +3 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GPathogenic
Select item 753819	NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)	SMPD1 (M569I +3 more)	Single nucleotide variant (missense variant +2 more)	SMPD1-related disorder +2 more	GLikely benign
Select item 3029111	NM_000543.5(SMPD1):c.1863C>T (p.Ala621=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	SMPD1-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 82