Full data view for gene SMPD1

Information The variants shown are described using the NM_000543.4 transcript reference sequence.

235 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.8G>A r.(?) p.(Arg3His) Unknown - likely benign g.6411836G>A g.6390606G>A SMPD1(NM_000543.5):c.8G>A (p.R3H), SMPD1(NM_001318087.1):c.8G>A (p.R3H) - SMPD1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.8G>A r.(?) p.(Arg3His) Unknown - likely benign g.6411836G>A g.6390606G>A SMPD1(NM_000543.5):c.8G>A (p.R3H), SMPD1(NM_001318087.1):c.8G>A (p.R3H) - SMPD1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.57_60dup r.(?) p.(Gln21Glyfs*32) Paternal (confirmed) ACMG pathogenic g.6411885_6411888dup g.6390655_6390658dup 60_61insGGGA - SMPD1_000171 - - - - Germline - - - 0 - DNA SEQ - - NP - - - - - - - - 0 - - 1 Jiayue Hu
-?/. - c.83C>T r.(?) p.(Pro28Leu) Unknown - likely benign g.6411911C>T - SMPD1(NM_001318087.1):c.83C>T (p.P28L) - SMPD1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106_107insCGCTGG r.(?) p.(Leu35_Val36insAlaLeu) Unknown - likely benign g.6411934_6411935insCGCTGG g.6390704_6390705insCGCTGG SMPD1(NM_000543.4):c.106_107insCGCTGG (p.L35_V36insAL) - SMPD1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.106_107insCGCTGGCGC r.(?) p.(Val36delinsAlaLeuAlaLeu) Unknown - benign g.6411934_6411935insCGCTGGCGC g.6390704_6390705insCGCTGGCGC SMPD1(NM_000543.5):c.106_107insCGCTGGCGC (p.V36delinsALAL) - SMPD1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106_107insCGCTGGCGCTGG r.(?) p.(Leu35_Val36insAlaLeuAlaLeu) Unknown - VUS g.6411934_6411935insCGCTGGCGCTGG g.6390704_6390705insCGCTGGCGCTGG SMPD1(NM_000543.4):c.106_107insCGCTGGCGCTGG (p.L35_V36insALAL) - SMPD1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.107T>C r.(?) p.(Val36Ala) Unknown - benign g.6411935T>C g.6390705T>C SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT... - SMPD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.107T>C r.(?) p.(Val36Ala) Unknown - benign g.6411935T>C g.6390705T>C SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT... - SMPD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.107T>C r.(?) p.(Val36Ala) Unknown - VUS g.6411935T>C g.6390705T>C SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT... - SMPD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.107T>C r.(?) p.(Val36Ala) Unknown - VUS g.6411935T>C g.6390705T>C SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT... - SMPD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- ? c.107T>C r.(?) p.(Val36Ala) Unknown - benign g.6411935T>C g.6390705T>C - - SMPD1_000001 submitted through SIB; ExPASy_038191; {dbSNP1050228} PubMed: Hua 2012 - - Unknown - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-/. - c.107T>C r.(?) p.(Val36Ala) Unknown - benign g.6411935T>C g.6390705T>C SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT... - SMPD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107_112del r.(?) p.(Val36_Leu37del) Unknown - likely benign g.6411935_6411940del g.6390705_6390710del SMPD1(NM_000543.5):c.107_112delTGCTGG (p.V36_L37del), SMPD1(NM_001318087.1):c.107_112delTGCTGG (p.V36_L37del) - SMPD1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.107_112del r.(?) p.(Val36_Leu37del) Unknown - likely benign g.6411935_6411940del - SMPD1(NM_000543.5):c.107_112delTGCTGG (p.V36_L37del), SMPD1(NM_001318087.1):c.107_112delTGCTGG (p.V36_L37del) - SMPD1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.107_118del r.(?) p.(Val36_Leu39del) Unknown - benign g.6411935_6411946del g.6390705_6390716del SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del) - SMPD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.107_118del r.(?) p.(Val36_Leu39del) Unknown - benign g.6411935_6411946del g.6390705_6390716del SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del) - SMPD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.107_118del r.(?) p.(Val36_Leu39del) Unknown - benign g.6411935_6411946del g.6390705_6390716del SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del) - SMPD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.107_124del r.(?) p.(Val36_Leu41del) Unknown - likely benign g.6411935_6411952del g.6390705_6390722del SMPD1(NM_000543.5):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del), SMPD1(NM_001318087.1):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del) - SMPD1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.107_124del r.(?) p.(Val36_Leu41del) Unknown - likely benign g.6411935_6411952del - SMPD1(NM_000543.5):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del), SMPD1(NM_001318087.1):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del) - SMPD1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108_109insGCG r.(?) p.(Val36_Leu37insAla) Unknown - benign g.6411936_6411937insGCG g.6390706_6390707insGCG SMPD1(NM_001318087.1):c.109_113delCTGGCinsGCGCTGGC (p.V36_L37insA) - SMPD1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108_109insGCGCTGGCG r.(?) p.(Val36_Leu37insAlaLeuAla) Unknown - likely benign g.6411936_6411937insGCGCTGGCG g.6390706_6390707insGCGCTGGCG SMPD1(NM_000543.4):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), SMPD1(NM_000543.5):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), S... - SMPD1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.108_109insGCGCTGGCG r.(?) p.(Val36_Leu37insAlaLeuAla) Unknown - benign g.6411936_6411937insGCGCTGGCG g.6390706_6390707insGCGCTGGCG SMPD1(NM_000543.4):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), SMPD1(NM_000543.5):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), S... - SMPD1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.126_143del r.(?) p.(Ala44_Leu49del) Unknown - benign g.6411954_6411971del g.6390724_6390741del SMPD1(NM_001318087.1):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del), SMPD1(NM_001318087.2):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del) - SMPD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.126_143del r.(?) p.(Ala44_Leu49del) Unknown - benign g.6411954_6411971del g.6390724_6390741del SMPD1(NM_001318087.1):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del), SMPD1(NM_001318087.2):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del) - SMPD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132_143del r.(?) p.(Ala46_Leu49del) Unknown - benign g.6411960_6411971del - SMPD1(NM_000543.5):c.132_143delGCTGGCGCTGGC (p.A46_L49del) - APBB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138_143del r.(?) p.(Ala48_Leu49del) Unknown - benign g.6411966_6411971del g.6390736_6390741del SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG... - SMPD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.138_143del r.(?) p.(Ala48_Leu49del) Unknown - benign g.6411966_6411971del g.6390736_6390741del SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG... - SMPD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.138_143del r.(?) p.(Ala48_Leu49del) Unknown - likely benign g.6411966_6411971del - SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG... - SMPD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.152A>T r.(?) p.(Asp51Val) Unknown - pathogenic g.6411980A>T g.6390750A>T - - SMPD1_000010 submitted through SIB; ExPASy_060870 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.282C>G r.(?) p.(Cys94Trp) Unknown - pathogenic g.6412110C>G g.6390880C>G - - SMPD1_000011 submitted through SIB; ExPASy_060871 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.314T>C r.(?) p.(Leu105Pro) Unknown - pathogenic g.6412142T>C g.6390912T>C - - SMPD1_000048 submitted through SIB; ExPASy_060872 PubMed: Ricci 2004 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.319-7A>T r.(=) p.(=) Unknown - likely benign g.6412607A>T g.6391377A>T SMPD1(NM_000543.4):c.319-7A>T (p.(=)) - SMPD1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337C>T r.(?) p.(Arg113Cys) Unknown - likely benign g.6412632C>T g.6391402C>T SMPD1(NM_001318087.1):c.337C>T (p.R113C) - SMPD1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340G>A r.(?) p.(Val114Met) Unknown - VUS g.6412635G>A g.6391405G>A SMPD1(NM_001318087.1):c.340G>A (p.V114M) - SMPD1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340G>A r.(?) p.(Val114Met) Parent #1 - VUS g.6412635G>A g.6391405G>A - - SMPD1_000148 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142215226 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/? ? c.395T>C r.(?) p.(Val132Ala) Unknown - pathogenic g.6412690T>C g.6391460T>C - - SMPD1_000061 submitted through SIB; ExPASy_060873 PubMed: Dardis 2005 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.416T>C r.(?) p.(Leu139Pro) Unknown - pathogenic g.6412711T>C g.6391481T>C - - SMPD1_000012 submitted through SIB; ExPASy_060874 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.416T>C r.(?) p.(Leu139Pro) Unknown ACMG likely pathogenic (recessive) g.6412711T>C - - - SMPD1_000012 ACMG: Class 4 (PS4, PM3, PM2_SUP, PP3) PMID: 12369017; PMID: 20301544 VCV000203424.2 - Germline ? - - - - DNA SEQ-NG-I - - NPA 177328 - - F ? Turkey - - 0 - - 1 Andreas Laner
+/? ? c.475T>C r.(?) p.(Cys159Arg) Unknown - pathogenic g.6412770T>C g.6391540T>C - - SMPD1_000013 submitted through SIB; ExPASy_011387 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.491G>T r.(?) p.(Gly164Val) Unknown - VUS g.6412786G>T g.6391556G>T SMPD1(NM_000543.4):c.491G>T (p.G164V) - SMPD1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? ? c.502G>A r.(?) p.(Gly168Arg) Unknown - pathogenic g.6412797G>A g.6391567G>A p.Gly166Arg - SMPD1_000063 submitted through SIB; ExPASy_060875 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.533T>A r.(?) p.(Ile178Asn) Unknown - pathogenic g.6412828T>A g.6391598T>A p.Ile176Asn - SMPD1_000064 submitted through SIB; ExPASy_060876 PubMed: Müssig 2006 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.533T>A r.(?) p.(Ile178Asn) Unknown - VUS g.6412828T>A - SMPD1(NM_001318087.1):c.533T>A (p.I178N) - SMPD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.557C>T r.(?) p.(Pro186Leu) Unknown - pathogenic g.6412852C>T g.6391622C>T p.Pro184Leu - SMPD1_000065 submitted through SIB; ExPASy_060877 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.564dup r.(?) p.(Lys189GlnfsTer4) Unknown - likely benign g.6412859dup g.6391629dup SMPD1(NM_000543.4):c.558_559insC (p.(Lys189GlnfsTer4)) - SMPD1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.573del r.(?) p.(Ser192Alafs*65) Both (homozygous) - pathogenic g.6412868del g.6391638del - - SMPD1_000168 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-?/. - c.574A>C r.(?) p.(Ser192Arg) Unknown - likely benign g.6412869A>C g.6391639A>C SMPD1(NM_000543.4):c.574A>C (p.(Ser192Arg)) - SMPD1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575G>C r.(?) p.(Ser192Thr) Unknown - likely benign g.6412870G>C g.6391640G>C SMPD1(NM_000543.4):c.575G>C (p.(Ser192Thr)), SMPD1(NM_001318087.1):c.575G>C (p.S192T) - SMPD1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575G>C r.(?) p.(Ser192Thr) Unknown - likely benign g.6412870G>C g.6391640G>C SMPD1(NM_000543.4):c.575G>C (p.(Ser192Thr)), SMPD1(NM_001318087.1):c.575G>C (p.S192T) - SMPD1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583G>C r.(?) p.(Ala195Pro) Unknown - likely benign g.6412878G>C g.6391648G>C SMPD1(NM_000543.4):c.583G>C (p.(Ala195Pro)) - SMPD1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591T>C r.(?) p.(Gly197=) Unknown - likely benign g.6412886T>C - SMPD1(NM_001318087.1):c.591T>C (p.G197=) - APBB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.592G>C r.(?) p.(Ala198Pro) Unknown - pathogenic g.6412887G>C g.6391657G>C - - SMPD1_000014 submitted through SIB; ExPASy_060878 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.604C>T r.(?) p.(Arg202Cys) Unknown - pathogenic g.6412899C>T g.6391669C>T - - SMPD1_000015 submitted through SIB; ExPASy_060879 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+? ? c.631T>C r.(?) p.(Trp211Arg) Unknown - pathogenic g.6412926T>C g.6391696T>C - - SMPD1_000005 submitted through SIB; ExPASy_068435; The mutation results in less than 0.5% of wild-type activity as shown by in vitro expression studies PubMed: Desnick 2010 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-/. - c.636T>C r.(?) p.(Asp212=) Unknown - benign g.6412931T>C g.6391701T>C SMPD1(NM_000543.5):c.636T>C (p.D212=) - SMPD1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.636T>C r.(?) p.(Asp212=) Unknown - benign g.6412931T>C g.6391701T>C SMPD1(NM_000543.5):c.636T>C (p.D212=) - SMPD1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.679C>A r.(?) p.(Leu227Met) Unknown - pathogenic g.6412974C>A g.6391744C>A - - SMPD1_000016 submitted through SIB; ExPASy_060880 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.680T>C r.(?) p.(Leu227Pro) Unknown - pathogenic g.6412975T>C g.6391745T>C - - SMPD1_000056 submitted through SIB; ExPASy_060881 PubMed: Pittis 2004 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.688C>T r.(?) p.(Arg230Cys) Unknown - pathogenic g.6412983C>T g.6391753C>T - - SMPD1_000017 submitted through SIB; ExPASy_060882 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.689G>A r.(?) p.(Arg230His) Unknown - pathogenic g.6412984G>A g.6391754G>A p.Arg228His - SMPD1_000066 submitted through SIB; ExPASy_060883 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.689G>A r.(?) p.(Arg230His) Unknown - VUS g.6412984G>A g.6391754G>A SMPD1(NM_001318087.2):c.689G>A (p.R230H) - SMPD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.701G>A r.(?) p.(Gly234Asp) Unknown - pathogenic g.6412996G>A g.6391766G>A - - SMPD1_000018 submitted through SIB; ExPASy_060884 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.708G>A r.(?) p.(Pro236=) Unknown - likely benign g.6413003G>A g.6391773G>A SMPD1(NM_001318087.1):c.708G>A (p.P236=) - SMPD1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.719G>A r.(?) p.(Arg240Gln) Unknown - benign g.6413014G>A g.6391784G>A SMPD1(NM_001318087.1):c.719G>A (p.R240Q) - SMPD1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.728C>T r.(?) p.(Ala243Val) Unknown - pathogenic g.6413023C>T g.6391793C>T p.Ala241Val - SMPD1_000067 submitted through SIB; ExPASy_060885 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.730G>A r.(?) p.(Gly244Arg) Unknown - pathogenic g.6413025G>A g.6391795G>A - - SMPD1_000072 submitted through SIB; ExPASy_005058 PubMed: Takahashi 1992 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.730G>A r.(?) p.(Gly244Arg) Parent #1 - pathogenic g.6413025G>A g.6391795G>A - - SMPD1_000072 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs120074122 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/? ? c.738G>C r.(?) p.(Trp246Cys) Unknown - pathogenic g.6413033G>C g.6391803G>C - - SMPD1_000057 submitted through SIB; ExPASy_060886 PubMed: Pittis 2004 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.739G>A r.(?) p.(Gly247Ser) Unknown - pathogenic g.6413034G>A g.6391804G>A - - SMPD1_000019 submitted through SIB; ExPASy_060887 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.739G>A r.(?) p.(Gly247Ser) Unknown - pathogenic g.6413034G>A g.6391804G>A - - SMPD1_000019 submitted through SIB; ExPASy_060887 PubMed: Ricci 2004 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.741_742delinsGC r.(?) p.(Glu248Gln) Unknown - pathogenic g.6413036_6413037delinsGC g.6391806_6391807delinsGC p.Glu245Gln - SMPD1_000074 submitted through SIB; ExPASy_005059 PubMed: Ida 1996 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.742G>A r.(?) p.(Glu248Lys) Unknown - pathogenic g.6413037G>A g.6391807G>A - - SMPD1_000049 submitted through SIB; ExPASy_060888 PubMed: Ricci 2004 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.750C>A r.(?) p.(Ser250Arg) Unknown - pathogenic g.6413045C>A g.6391815C>A - - SMPD1_000020 submitted through SIB; ExPASy_015287 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+? ? c.757G>C r.(?) p.(Asp253His) Unknown - pathogenic g.6413052G>C g.6391822G>C - - SMPD1_000006 submitted through SIB; ExPASy_068436; The mutation results in loss of activity as shown by in vitro expression studies PubMed: Desnick 2010 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.759C>A r.(?) p.(Asp253Glu) Unknown - pathogenic g.6413054C>A g.6391824C>A p.Asp251Glu - SMPD1_000068 submitted through SIB; ExPASy_060889 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.762G>A r.(?) p.(Leu254=) Unknown - likely benign g.6413057G>A g.6391827G>A SMPD1(NM_001318087.1):c.762G>A (p.L254=) - SMPD1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.808G>A r.(?) p.(Gly270Ser) Unknown - VUS g.6413103G>A g.6391873G>A SMPD1(NM_000543.4):c.808G>A (p.G270S) - SMPD1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.813T>C r.(?) p.(Pro271=) Unknown - likely benign g.6413108T>C g.6391878T>C SMPD1(NM_000543.4):c.813T>C (p.P271=), SMPD1(NM_000543.5):c.813T>C (p.P271=) - SMPD1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813T>C r.(?) p.(Pro271=) Unknown - benign g.6413108T>C g.6391878T>C SMPD1(NM_000543.4):c.813T>C (p.P271=), SMPD1(NM_000543.5):c.813T>C (p.P271=) - SMPD1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.839A>C r.(?) p.(Asp280Ala) Unknown - pathogenic g.6413134A>C g.6391904A>C p.Asp278Ala - SMPD1_000069 submitted through SIB; ExPASy_060890 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.847G>A r.(?) p.(Ala283Thr) Unknown - pathogenic g.6413142G>A g.6391912G>A - - SMPD1_000058 submitted through SIB; ExPASy_060891 PubMed: Pittis 2004 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.872G>A r.(?) p.(Arg291His) Unknown - pathogenic g.6413167G>A g.6391937G>A - - SMPD1_000021 submitted through SIB; ExPASy_060892 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.872G>A r.(?) p.(Arg291His) Parent #1 - VUS g.6413167G>A g.6391937G>A - - SMPD1_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1803161 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/? ? c.880C>A r.(?) p.(Gln294Lys) Unknown - pathogenic g.6413175C>A g.6391945C>A - - SMPD1_000059 submitted through SIB; ExPASy_060893 PubMed: Pittis 2004 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.880C>A r.(?) p.(Gln294Lys) Unknown - pathogenic g.6413175C>A g.6391945C>A - - SMPD1_000059 submitted through SIB; ExPASy_060893 PubMed: Pavl?-Pereira 2005 - - Unknown - - - 0 - DNA SEQ - - NPA, NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.887G>A r.(?) p.(Arg296Gln) Unknown - VUS g.6413182G>A g.6391952G>A - - SMPD1_000102 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? ? c.887G>A r.(?) p.(Arg296Gln) Unknown - pathogenic g.6413182G>A g.6391952G>A - - SMPD1_000050 submitted through SIB; ExPASy_060894 PubMed: Ricci 2004 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.901G>A r.(?) p.(Val301Ile) Unknown - likely benign g.6413196G>A g.6391966G>A SMPD1(NM_001318087.2):c.901G>A (p.V301I) - SMPD1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.911T>C r.(?) p.(Leu304Pro) Unknown - pathogenic g.6413206T>C g.6391976T>C SMPD1(NM_000543.5):c.911T>C (p.L304P) - SMPD1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? ? c.911T>C r.(?) p.(Leu304Pro) Unknown - pathogenic g.6413206T>C g.6391976T>C - - SMPD1_000075 submitted through SIB; ExPASy_005060 PubMed: Levran 1992 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+? ? c.940G>A r.(?) p.(Val314Met) Unknown - pathogenic g.6413235G>A g.6392005G>A - - SMPD1_000007 submitted through SIB; ExPASy_068437; The mutation results in 20% of wild-type activity as shown by in vitro expression studies PubMed: Desnick 2010 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.940G>A r.(?) p.(Val314Met) Unknown - pathogenic g.6413235G>A - SMPD1(NM_001318087.1):c.940G>A (p.V314M) - SMPD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.943T>C r.(?) p.(Tyr315His) Unknown - pathogenic g.6413238T>C g.6392008T>C - - SMPD1_000051 submitted through SIB; ExPASy_060895 PubMed: Ricci 2004 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? ? c.961C>T r.(?) p.(His321Tyr) Unknown - pathogenic g.6413256C>T g.6392026C>T p.His319Tyr - SMPD1_000076 submitted through SIB; ExPASy_015288 PubMed: Sikora 2003 - - Unknown - - - 0 - DNA SEQ - - NPA - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.961C>T r.(?) p.(His321Tyr) Unknown - likely pathogenic g.6413256C>T g.6392026C>T - - SMPD1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.973C>G r.(?) p.(Pro325Ala) Unknown - pathogenic g.6413268C>G g.6392038C>G - - SMPD1_000022 submitted through SIB; ExPASy_060896 PubMed: Simonaro 2002 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.990del r.(?) p.(Phe333SerfsTer52) Unknown - pathogenic g.6413285del g.6392055del SMPD1(NM_000543.5):c.990delC (p.F333Sfs*52) - SMPD1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.995C>G r.(?) p.(Pro332Arg) Unknown - likely benign g.6413290C>G g.6392060C>G SMPD1(NM_000543.4):c.995C>G (p.(Pro332Arg)), SMPD1(NM_001318088.1):c.34C>G (p.P12A) - SMPD1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? ? c.995C>G r.(?) p.(Pro332Arg) Unknown - pathogenic g.6413290C>G g.6392060C>G - - SMPD1_000003 submitted through SIB; ExPASy_060897 PubMed: Lan 2009 - - Unknown - - - 0 - DNA SEQ - - NPB - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
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