"Counsyl"[submitter] AND "SMPD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 371218	NM_000543.5(SMPD1):c.193del (p.Ser65fs)	SMPD1 (S65fs)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
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 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 556092	NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	SMPD1 (L105P)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 552663	NM_000543.5(SMPD1):c.318+2T>A	SMPD1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 551827	NM_000543.5(SMPD1):c.318+2T>C	SMPD1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type B +1 more	GLikely pathogenic
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 556008	NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)	SMPD1 (L121P +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GConflicting classifications of pathogenicity
Select item 371203	NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)	SMPD1	Deletion (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 167709	NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	SMPD1 (C159R +1 more)	Single nucleotide variant (missense variant +2 more)	Sphingomyelin/cholesterol lipidosis +3 more	GPathogenic/Likely pathogenic
Select item 553935	NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)	SMPD1 (L163P +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GConflicting classifications of pathogenicity
Select item 189153	NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	SMPD1 (S173fs +1 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 551113	NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)	SMPD1	Deletion (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 552566	NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)	SMPD1 (W176* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 552601	NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	SMPD1 (I178N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 189096	NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	SMPD1 (L179fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 371341	NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	SMPD1 (P186L +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 167710	NM_000543.5(SMPD1):c.573del (p.Ser192fs)	SMPD1 (S191fs +1 more)	Deletion (frameshift variant +2 more)	Sphingomyelin/cholesterol lipidosis +3 more	GPathogenic
Select item 553306	NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	SMPD1 (A194fs +1 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371211	NM_000543.5(SMPD1):c.581del (p.Pro194fs)	SMPD1 (P193fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 555833	NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)	SMPD1 (F205fs +1 more)	Deletion (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 553073	NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)	SMPD1 (L227P +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +2 more	GConflicting classifications of pathogenicity
Select item 370432	NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	SMPD1 (R230C +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 459634	NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)	SMPD1 (R240Q +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GBenign/Likely benign
Select item 370798	NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)	SMPD1 (G244* +1 more)	Single nucleotide variant (nonsense +2 more)	Sphingomyelin/cholesterol lipidosis +2 more	GPathogenic/Likely pathogenic
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 371576	NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	SMPD1 (S250R +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 553926	NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)	SMPD1 (S250R +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GLikely 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 371528	NM_000543.4:c.777_778ins8	SMPD1	Insertion	Niemann-Pick disease, type A	GLikely pathogenic
Select item 558334	NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)	SMPD1 (E260* +1 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely 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 93321	NM_000543.5(SMPD1):c.842_849dup (p.His284fs)	SMPD1 (H283fs +1 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type B +2 more	GPathogenic
Select item 2994	NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	SMPD1 (Q294K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GPathogenic
Select item 556649	NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del)	SMPD1	Deletion (inframe_deletion +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 552216	NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup)	SMPD1	Microsatellite (5 prime UTR variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
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 556090	NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	SMPD1 (V314M +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
Select item 555444	NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	SMPD1 (G319R +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GConflicting classifications of pathogenicity
Select item 556246	NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)	SMPD1 (N320D +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
Select item 2990	NM_000543.5(SMPD1):c.996del (p.Phe333fs)	SMPD1 (F332fs +2 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 371530	NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)	SMPD1 (P12fs +2 more)	Indel (frameshift variant +1 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 550557	NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)	SMPD1 (W342C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 553487	NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)	SMPD1 (F368fs +2 more)	Duplication (frameshift variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic/Likely pathogenic
Select item 188853	NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)	SMPD1 (L371fs +2 more)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
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 370363	NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)	SMPD1 (L382fs +2 more)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 557533	NM_000543.5(SMPD1):c.1166G>A (p.Arg389His)	SMPD1 (R389H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2991	NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)	SMPD1 (W393G +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 370394	NM_000543.5(SMPD1):c.1264-1G>T	SMPD1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type A +2 more	GLikely 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 551462	NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)	SMPD1 (P429L +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type B +1 more	GConflicting classifications of pathogenicity
Select item 371590	NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)	SMPD1	Deletion (nonsense +1 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 93313	NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)	SMPD1 (C433W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely 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 371672	NM_000543.5(SMPD1):c.1341-1G>T	SMPD1	Single nucleotide variant (splice acceptor variant)	Sphingomyelin/cholesterol lipidosis +1 more	GLikely pathogenic
Select item 370902	NM_000543.5(SMPD1):c.1341-1G>A	SMPD1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
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 557892	NM_000543.5(SMPD1):c.1373del (p.Gly458fs)	SMPD1 (G151fs +3 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 557419	NM_000543.5(SMPD1):c.1379del (p.Thr460fs)	SMPD1 (T153fs +3 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 93315	NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	SMPD1 (R476W +3 more)	Single nucleotide variant (missense variant +1 more)	Sphingomyelin/cholesterol lipidosis +4 more	GPathogenic/Likely pathogenic
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 558472	NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)	SMPD1 (G496S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 555578	NM_000543.5(SMPD1):c.1486+6_1486+9del	SMPD1	Microsatellite (splice donor variant)	Niemann-Pick disease, type A	GUncertain significance
Select item 551123	NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)	SMPD1 (Y497* +4 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 198095	NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	SMPD1 (R498C +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 371347	NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs)	SMPD1 (Y193fs +4 more)	Microsatellite (frameshift variant +1 more)	Niemann-Pick disease, type A	GLikely 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 558489	NM_000543.5(SMPD1):c.1497G>A (p.Val499=)	SMPD1 (C506Y)	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely benign
Select item 557879	NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	SMPD1 (Y500H +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GConflicting classifications of pathogenicity
Select item 370493	NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)	SMPD1 (Y506* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 549947	NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	SMPD1 (S510F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 437453	NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)	SMPD1 (Y519C +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GConflicting classifications of pathogenicity
Select item 557963	NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)	SMPD1 (W535R +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GLikely pathogenic
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 551342	NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)	SMPD1 (E543* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 551076	NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)	SMPD1 (N505fs +3 more)	Indel (frameshift variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 551919	NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)	SMPD1 (W555* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 554842	NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu)	SMPD1 (V559L +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 550112	NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	SMPD1 (H577R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 371458	NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)	SMPD1 (S583* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A	GLikely pathogenic

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