All variants in the SPRED1 gene

Information The variants shown are described using the NM_152594.2 transcript reference sequence.

341 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ TGD+flanking c.-5366987_*1155801del r.0 p.0 - pathogenic g.? - c.-335-u5366652_*5585+d1150216del - SPRED1_000088 5.97Mb deletion PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen
+/+ TGD+flanking c.-5076117_*799493del r.0 p.0 - pathogenic g.? - c.-335-u5075783_*5585+d793907del - SPRED1_000087 3.24Mb deletion PubMed: Brems et al, 2012 - - Unknown - - - 0 - Ludwine Messiaen
+/+ TGD+flanking c.-753083_*142221del r.0 p.0 - pathogenic g.37792304_38786086del - - - SPRED1_000089 0.878-0.993Mb sized deletion PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen
+/+ TGD+flanking c.-581681_*2562437del r.0 p.0 - pathogenic g.? - c.-335-u581346_*5585+d2556852del - SPRED1_000086 6.6Mb deletion PubMed: Brems et al, 2012 - - De novo - - - 0 - Ludwine Messiaen
+/+ TGD+flanking c.-440412_*1383539del r.0 p.0 - pathogenic g.? - c.-335-u440077_*5585+d1377954del - SPRED1_000085 1.92Mb deletion PubMed: Brems et al, 2012 - - Unknown - - - 0 - Ludwine Messiaen
+/+ TGD+flanking c.-163137_*707118del r.0 p.0 - pathogenic g.38382250_39350983del - - - SPRED1_000133 novel Popovici C, Marseille, France - - Unknown - - - 0 - Cornel POPOVICI
+/+ TGD+flanking c.-163137_*707118del r.0 p.0 - pathogenic g.38382250_39350983del - - - SPRED1_000159 - Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
+/+ prom-4 c.(?_-1175)_(423+19_?)del r.0? p.0? - pathogenic g.? - c.1-1175-?_423+19+?del - SPRED1_000083 Domain: EVH-1 PubMed: Brems et al, 2012 - - Unknown - - - 0 - Ludwine Messiaen
+/+ prom-1 c.(?_-845)_(32+8517_?)del r.0? p.0? - pathogenic g.? - c.1-845-?_c.32+8517+?del - SPRED1_000098 ~9.4-41.4kb deletion / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
+/+ prom-1 c.(?_-800)_(32+1_?)del r.0? p.0? - pathogenic g.? - c.1-800-?_c.32+?del - SPRED1_000084 deletion with minimum size of 111; maximum size of 203.8 kb / Domain: EVH-1 PubMed: Spencer 2011 - - Germline - - - 0 - Ludwine Messiaen
?/? 5'UTR c.-24A>G r.(?) p.(=) - VUS g.38545363A>G g.38253162A>G - - SPRED1_000158 - Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
+/. - c.1A>T r.(?) p.(Met1?) - pathogenic g.38545387A>T - - - SPRED1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 c.2T>C r.(?) p.(?) - likely pathogenic g.38545388T>C g.38253187T>C - - SPRED1_000002 - PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 1 c.7G>T r.(?) p.(Glu3*) - pathogenic g.38545393G>T g.38253192G>T - - SPRED1_000005 - PubMed: Messiaen 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 1 c.7_20del r.(?) p.(Glu3Phefs*2) - pathogenic g.38545393_38545406del g.38253192_38253205del - - SPRED1_000004 Domain: EVH-1 PubMed: Messiaen 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 1 c.18del r.(?) p.(Thr7Leufs*15) - pathogenic g.38545404del g.38253203del - - SPRED1_000102 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - De novo - - - 0 - Ludwine Messiaen
+/+ 1 c.22del r.(?) p.(Ser8Leufs*14) - pathogenic g.38545408del g.38253207del - - SPRED1_000139 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Germline - - - 0 - Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:no; M_musculus:yes; O_cuniculus:no; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - Ludwine Messiaen
-?/? 1 c.27C>A r.(?) p.(Asp9Glu) - likely benign g.38545413C>A g.38253212C>A - - SPRED1_000134 Domain: EVH-1 Trevisson, University of Padova, unpublished novel mutation - - Germline - - - 0 - Eva Trevisson
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys - likely benign g.38545416C>A g.38253215C>A - - SPRED1_000003 Domain: EVH-1 PubMed: Brems et al, 2012 - rs201692618 Unknown - - - 0 - Ludwine Messiaen
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys - likely benign g.38545416C>A g.38253215C>A - - SPRED1_000003 Domain: EVH-1 PubMed: Brems et al, 2012 - rs201692618 De novo - - - 0 - Ludwine Messiaen
+?/+? 1 c.32+2T>C r.spl? p.(?) - likely pathogenic g.38545420T>C g.38253219T>C - - SPRED1_000117 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
-/. - c.32+20C>T r.(=) p.(=) - benign g.38545438C>T g.38253237C>T SPRED1(NM_152594.2):c.32+20C>T - SPRED1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 1 c.32+43A>G r.= p.= - likely benign g.38545461A>G g.38253260A>G - - SPRED1_000118 Domain: EVH-1 - - rs189604029 De novo - - - 0 - Ludwine Messiaen
+/+ 2-6 c.33-20604_684+401delinsGAAA r.33_684del p.Asp11Glufs*4 - pathogenic g.38570970_38642125delinsGAAA g.38278769_38349924delinsGAAA - - SPRED1_000082 71 kb deletion / Domain: EVH-1 PubMed: Spencer 2011 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2-4 c.(?_33-17014)_(423+568)delins5 r.(?) p.(Asn12Profs*17) - pathogenic g.? - c.33-17014_423+568delins5 - SPRED1_000103 43 kb deletion / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
+/+ 2-4 c.(?_33-5928)_(423+19_?)del r.33_423del p.Asn12Profs*17 - pathogenic g.? - c.33-5928-?_423+19+?del - SPRED1_000094 ~31.4-73.7kb deletion / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
-?/. - c.33-6T>C r.(=) p.(=) - likely benign g.38591568T>C g.38299367T>C SPRED1(NM_152594.2):c.33-6T>C (p.(=)) - SPRED1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/-? 2 c.42T>C r.= p.= - likely benign g.38591583T>C g.38299382T>C - - SPRED1_000010 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/. - c.46C>T r.(?) p.(Arg16Ter) - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2); no additional second somatic mutation found in the tumor cells of the proband / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Ludwine Messiaen
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* - VUS g.38591587C>T g.38299386C>T - - SPRED1_000011 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2) / Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - Beatrice Parfait
+/. - c.46C>T r.(?) p.(Arg16*) - pathogenic (dominant) g.38591587C>T - - - SPRED1_000011 - - - - Germline/De novo (untested) - - - 0 - Andri Miltiadous
+/. - c.52C>T r.(?) p.(Arg18Ter) - pathogenic g.38591593C>T g.38299392C>T SPRED1(NM_152594.2):c.52C>T (p.R18*) - SPRED1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) / Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.60_61insC r.(?) p.(Val21Argfs*6) - pathogenic g.38591601_38591602insC g.38299400_38299401insC - - SPRED1_000013 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - Ludwine Messiaen
+/. 2 c.70C>T r.(?) p.(Arg24*) - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 - - - - Germline - - - 0 - Andreas Laner
+/. - c.70C>T r.(?) p.(Arg24Ter) - pathogenic g.38591611C>T g.38299410C>T SPRED1(NM_152594.2):c.70C>T (p.R24*) - SPRED1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 description of c.70C>T at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
?/+ 2 c.70C>T r.70c>u p.(Arg24*) - VUS g.38591611C>T g.38299410C>T - - SPRED1_000014 description of c.70C>T at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Beatrice Parfait
+/+ 2 c.70C>T r.70c>u p.Arg24* - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/. 2 c.70C>T r.(?) p.(Arg24*) ACMG pathogenic (dominant) g.38591611C>T - - - SPRED1_000014 ACMG: PVS1, PM2, PS4_SUP: class 5 PMID: 17704776, 19920235, 21089071 - rs121434313 Germline ? - - - - Andreas Laner
?/? 2 c.71G>A r.71g>a p.Arg24Gln - VUS g.38591612G>A g.38299411G>A - - SPRED1_000015 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.71G>A r.71g>a p.Arg24Gln - VUS g.38591612G>A g.38299411G>A - - SPRED1_000015 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.87_88dup r.87_88dup p.Gly30Valfs*11 - pathogenic g.38591628_38591629dup g.38299427_38299428dup - - SPRED1_000016 Domain: EVH-1 PubMed: Spencer 2011 S54 - - Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.88G>A r.88g>a p.Gly30Arg - VUS g.38591629G>A g.38299428G>A - - SPRED1_000017 Domain: EVH-1 PubMed: Spencer 2011 S46 - - Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.91T>A r.91u>a p.Trp31Arg - VUS g.38591632T>A g.38299431T>A - - SPRED1_000140 Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - De novo - - - 0 - Ludwine Messiaen
+?/+? 2 c.92G>T r.92g>u p.Trp31Leu - likely pathogenic g.38591633G>T g.38299432G>T - - SPRED1_000119 novel / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
+/. - c.93G>C r.(?) p.(Trp31Cys) - pathogenic g.38591634G>C g.38299433G>C SPRED1(NM_152594.2):c.93G>C (p.W31C) - SPRED1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.93G>T r.(?) p.(Trp31Cys) - pathogenic g.38591634G>T g.38299433G>T SPRED1(NM_152594.2):c.93G>T (p.W31C) - SPRED1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.107_110del r.107_110del p.Gly36Valfs*3 - pathogenic g.38591648_38591651del g.38299447_38299450del - - SPRED1_000096 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.108del r.(?) p.(Ser37Valfs*3) - pathogenic g.38591649del g.38299448del - - SPRED1_000120 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 variant also present in the mother who has no signs / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Germline - - - 0 - Ludwine Messiaen
?/. - c.124G>A r.(?) p.(Val42Ile) - VUS g.38591665G>A g.38299464G>A SPRED1(NM_152594.2):c.124G>A (p.(Val42Ile)) - SPRED1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 2 c.131T>A r.(?) p.(Val44Asp) - VUS g.38591672T>A g.38299471T>A - - SPRED1_000007 Domain: EVH-1 PubMed: Spurlock 2009 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000008 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 De novo - - - 0 - Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.177del r.(?) p.(Phe59Leufs*62) - pathogenic g.38591718del g.38299517del - - SPRED1_000141 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
-?/. - c.182G>A r.(?) p.(Arg61His) - likely benign g.38591723G>A g.38299522G>A SPRED1(NM_152594.2):c.182G>A (p.(Arg61His)) - SPRED1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.190C>T r.(?) p.(Arg64Ter) - pathogenic g.38591731C>T g.38299530C>T SPRED1(NM_152594.2):c.190C>T (p.R64*) - SPRED1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) / Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level / Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - Ludwine Messiaen
+/. - c.207+1G>A r.spl? p.? - pathogenic g.38591749G>A g.38299548G>A SPRED1(NM_152594.2):c.207+1G>A - SPRED1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.207+1G>T r.33_207del p.Asp11Glufs*52 - pathogenic g.38591749G>T g.38299548G>T - - SPRED1_000100 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - Ludwine Messiaen
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