Full data view for gene SPRED1

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     

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     
+/+ TGD+flanking c.-5366987_*1155801del r.0 p.0 Unknown - pathogenic g.? - c.-335-u5366652_*5585+d1150216del - SPRED1_000088 5.97Mb deletion PubMed: Spencer 2011 - - Unknown - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ TGD+flanking c.-5076117_*799493del r.0 p.0 Unknown - pathogenic g.? - c.-335-u5075783_*5585+d793907del - SPRED1_000087 3.24Mb deletion PubMed: Brems et al, 2012 - - Unknown - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - Brems et al, 2012 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ TGD+flanking c.-753083_*142221del r.0 p.0 Unknown - pathogenic g.37792304_38786086del - - - SPRED1_000089 0.878-0.993Mb sized deletion PubMed: Spencer 2011 - - Unknown - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ TGD+flanking c.-581681_*2562437del r.0 p.0 Unknown - pathogenic g.? - c.-335-u581346_*5585+d2556852del - SPRED1_000086 6.6Mb deletion PubMed: Brems et al, 2012 - - De novo - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - Brems et al, 2012 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ TGD+flanking c.-440412_*1383539del r.0 p.0 Unknown - pathogenic g.? - c.-335-u440077_*5585+d1377954del - SPRED1_000085 1.92Mb deletion PubMed: Brems et al, 2012 - - Unknown - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - Brems et al, 2012 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ TGD+flanking c.-163137_*707118del r.0 p.0 Unknown - pathogenic g.38382250_39350983del - - - SPRED1_000133 novel Popovici C, Marseille, France - - Unknown - - - 0 - DNA arrayCGH blood - LGSS - cornel.popovici@ap-hm.fr - M - - - - 0 - - 1 Cornel POPOVICI
+/+ TGD+flanking c.-163137_*707118del r.0 p.0 Unknown - pathogenic g.38382250_39350983del - - - SPRED1_000159 - Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - DNA SEQ, MLPA blood - LGSS - Messiaen UAB, unpublished novel mutation - - - - - - 0 - - 1 Ludwine Messiaen
+/+ prom-4 c.(?_-1175)_(423+19_?)del r.0? p.0? Unknown - pathogenic g.? - c.1-1175-?_423+19+?del - SPRED1_000083 Domain: EVH-1 PubMed: Brems et al, 2012 - - Unknown - - - 0 - DNA, RNA MLPA, arrayCGH blood - LGSS - Brems et al, 2012 this patient also carries a duplication on 15q26.1 encompassing at least 857kb including 18 annotated genes (aCGH) - - - - - 0 - - 1 Ludwine Messiaen
+/+ prom-1 c.(?_-845)_(32+8517_?)del r.0? p.0? Unknown - 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 - DNA, RNA MLPA blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ prom-1 c.(?_-800)_(32+1_?)del r.0? p.0? Unknown - 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 - DNA, RNA MLPA, arrayCGH blood - LGSS - PubMed: Spencer 2011 phenotype of affected parent and sibling of the proband described in {PMID21548021:Spencer 2011} F - - - - 0 - - 1 Ludwine Messiaen
?/? 5'UTR c.-24A>G r.(?) p.(=) Unknown - VUS g.38545363A>G g.38253162A>G - - SPRED1_000158 - Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - DNA SEQ blood - ? - Messiaen UAB, unpublished - - - - - - 0 - - 1 Ludwine Messiaen
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.38545387A>T - - - SPRED1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.2T>C r.(?) p.(?) Unknown - likely pathogenic g.38545388T>C g.38253187T>C - - SPRED1_000002 - PubMed: Pasmant 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Pasmant 2009 phenotype of affected parent and 2 siblings of the proband described in {PMID19366998:Pasmant 2009} - - - - - 0 - - 1 Ludwine Messiaen
+/+ 1 c.7G>T r.(?) p.(Glu3*) Unknown - pathogenic g.38545393G>T g.38253192G>T - - SPRED1_000005 - PubMed: Messiaen 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 phenotype of affected parent of the proband described in {PMID19920235:Messiaen 2009} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 1 c.7_20del r.(?) p.(Glu3Phefs*2) Unknown - pathogenic g.38545393_38545406del g.38253192_38253205del - - SPRED1_000004 Domain: EVH-1 PubMed: Messiaen 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 phenotype of affected parent of the proband described in {PMID19920235:Messiaen 2009} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 1 c.18del r.(?) p.(Thr7Leufs*15) Unknown - pathogenic g.38545404del g.38253203del - - SPRED1_000102 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - De novo - - - 0 - DNA SEQ blood - LGSS - Pasmant, Paris - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 1 c.22del r.(?) p.(Ser8Leufs*14) Unknown - pathogenic g.38545408del g.38253207del - - SPRED1_000139 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - VUS g.38545412A>T g.38253211A>T - - SPRED1_000001 Domain: EVH-1 PubMed: Brems et al, 2012 - rs200157475 Unknown - - - 0 - DNA, RNA SEQ blood - cafe-au-lait spots, multiple - Brems et al, 2012 - M - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - 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 - DNA SEQ blood - NF1 - Messiaen UAB, unpublished also carries NF1 mutation c.3708G>A; also found in her brother who has NO signs F - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - 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 - DNA SEQ blood - cafe-au-lait spots, multiple - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
?/? 1 c.26A>T r.26a>u p.Asp9Val Unknown - 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 - DNA SEQ blood - ? - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
-?/? 1 c.27C>A r.(?) p.(Asp9Glu) Paternal (confirmed) - likely benign g.38545413C>A g.38253212C>A - - SPRED1_000134 Domain: EVH-1 Trevisson, University of Padova, unpublished novel mutation - - Germline - - - 0 - DNA SEQ blood - cafe-au-lait spots, multiple - Eva Trevisson, University of Padova, Italy - F no Italy - - 0 - - 1 Eva Trevisson
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys Unknown - likely benign g.38545416C>A g.38253215C>A - - SPRED1_000003 Domain: EVH-1 PubMed: Brems et al, 2012 - rs201692618 Unknown - - - 0 - DNA, RNA SEQ blood - ? - Brems et al, 2012 - M - - - - 0 - - 1 Ludwine Messiaen
-?/-? 1 c.30C>A r.30c>a p.Asn10Lys Unknown - likely benign g.38545416C>A g.38253215C>A - - SPRED1_000003 Domain: EVH-1 PubMed: Brems et al, 2012 - rs201692618 De novo - - - 0 - DNA, RNA SEQ blood - ? - Messiaen UAB, unpublished - M - - caucasian - 0 - - 1 Ludwine Messiaen
+?/+? 1 c.32+2T>C r.spl? p.(?) Unknown - likely pathogenic g.38545420T>C g.38253219T>C - - SPRED1_000117 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - DNA, RNA SEQ, MLPA blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
-/. - c.32+20C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.32+43A>G r.= p.= Unknown - likely benign g.38545461A>G g.38253260A>G - - SPRED1_000118 Domain: EVH-1 - - rs189604029 De novo - - - 0 - DNA, RNA SEQ blood - ? - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2-6 c.33-20604_684+401delinsGAAA r.33_684del p.Asp11Glufs*4 Unknown - pathogenic g.38570970_38642125delinsGAAA g.38278769_38349924delinsGAAA - - SPRED1_000082 71 kb deletion / Domain: EVH-1 PubMed: Spencer 2011 - - Germline - - - 0 - DNA, RNA SEQ, MLPA blood - LGSS - PubMed: Spencer 2011 phenotype of affected parent of the proband described in {PMID21548021:Spencer 2011} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2-4 c.(?_33-17014)_(423+568)delins5 r.(?) p.(Asn12Profs*17) Unknown - pathogenic g.? - c.33-17014_423+568delins5 - SPRED1_000103 43 kb deletion / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - DNA SEQ, MLPA blood - LGSS - Van Minkelen, Erasmus U, Rotterdam - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2-4 c.(?_33-5928)_(423+19_?)del r.33_423del p.Asn12Profs*17 Unknown - 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 - DNA, RNA SEQ, MLPA blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
-?/. - c.33-6T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.42T>C r.= p.= Unknown - likely benign g.38591583T>C g.38299382T>C - - SPRED1_000010 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - DNA SEQ blood - ? - PubMed: Messiaen 2009 - - - - - - 0 - - 1 Ludwine Messiaen
+/. - c.46C>T r.(?) p.(Arg16Ter) Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2009 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Spurlock 2009 phenotype of affected child of proband described in {PMID19443465:Spurlock 2009} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - pathogenic g.38591587C>T g.38299386C>T - - SPRED1_000011 Domain: EVH-1 PubMed: Pasmant 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - Wimmer, MUI - F - - - - 0 - - 1 Ludwine Messiaen
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
?/+ 2 c.46C>T r.46c>u p.Arg16* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 phenotype of affected parent and 1 sibling of the proband described in {PMID19366998:Pasmant 2009}; no additional second somatic mutation found in the tumor cells of the proband - - ? (unknown) - - 0 - - 1 Beatrice Parfait
+/. - c.46C>T r.(?) p.(Arg16*) Unknown - pathogenic (dominant) g.38591587C>T - - - SPRED1_000011 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Andri Miltiadous
+/. - c.52C>T r.(?) p.(Arg18Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Muram-Zborovski 2010 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Brems et al, 2012 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.52C>T r.52c>u p.Arg18* Unknown - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - 0 - DNA, RNA SEQ blood - LGSS - Brems et al, 2012 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.60_61insC r.(?) p.(Val21Argfs*6) Unknown - pathogenic g.38591601_38591602insC g.38299400_38299401insC - - SPRED1_000013 Domain: EVH-1 PubMed: Messiaen 2009 - - Unknown - - - 0 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 unknown (father unavailable) F - - - - 0 - - 1 Ludwine Messiaen
+/. 2 c.70C>T r.(?) p.(Arg24*) Parent #1 - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.70C>T r.(?) p.(Arg24Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Brems 2007 phenotype of 6 affected relatives is debribed in {PMID17704776:Brems 2007} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Messiaen 2009 phenotype of 2 affected siblings of the proband described in {PMID19920235:Messiaen 2009} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a phenotype of affected child of the proband described in {PMID21089071:Denayer 2011a} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
?/+ 2 c.70C>T r.70c>u p.(Arg24*) Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2014 - - - - - - 0 - - 1 Beatrice Parfait
+/+ 2 c.70C>T r.70c>u p.Arg24* Unknown - pathogenic g.38591611C>T g.38299410C>T - - SPRED1_000014 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/. 2 c.70C>T r.(?) p.(Arg24*) Unknown ACMG pathogenic (dominant) g.38591611C>T - - - SPRED1_000014 ACMG: PVS1, PM2, PS4_SUP: class 5 PMID: 17704776, 19920235, 21089071 - rs121434313 Germline ? - - - - DNA SEQ-NG-I - - LGSS 173925 - - F ? ? (unknown) - - 0 - - 1 Andreas Laner
?/? 2 c.71G>A r.71g>a p.Arg24Gln Unknown - VUS g.38591612G>A g.38299411G>A - - SPRED1_000015 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - DNA, RNA SEQ blood - ? - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
?/? 2 c.71G>A r.71g>a p.Arg24Gln Unknown - VUS g.38591612G>A g.38299411G>A - - SPRED1_000015 Domain: EVH-1 PubMed: Spencer 2011 - - Unknown - - - 0 - DNA, RNA SEQ, MLPA blood - ? - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.87_88dup r.87_88dup p.Gly30Valfs*11 Unknown - pathogenic g.38591628_38591629dup g.38299427_38299428dup - - SPRED1_000016 Domain: EVH-1 PubMed: Spencer 2011 S54 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - F - - - - 0 - - 1 Ludwine Messiaen
?/? 2 c.88G>A r.88g>a p.Gly30Arg Unknown - VUS g.38591629G>A g.38299428G>A - - SPRED1_000017 Domain: EVH-1 PubMed: Spencer 2011 S46 - - Unknown - - - 0 - DNA, RNA SEQ blood - ? - PubMed: Spencer 2011 - - - - - - 0 - - 1 Ludwine Messiaen
?/? 2 c.91T>A r.91u>a p.Trp31Arg Unknown - VUS g.38591632T>A g.38299431T>A - - SPRED1_000140 Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - De novo - - - 0 - DNA SEQ blood - ? - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+?/+? 2 c.92G>T r.92g>u p.Trp31Leu Unknown - 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 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
+/. - c.93G>C r.(?) p.(Trp31Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.93G>T r.(?) p.(Trp31Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) Unknown - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - De novo - - - 0 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) Unknown - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - Unknown - - - 0 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.93G>T r.(?) p.(Trp31Cys) Unknown - pathogenic g.38591634G>T g.38299433G>T - - SPRED1_000018 Domain: EVH-1 PubMed: Denayer 2011a - - Unknown - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.107_110del r.107_110del p.Gly36Valfs*3 Unknown - pathogenic g.38591648_38591651del g.38299447_38299450del - - SPRED1_000096 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.108del r.(?) p.(Ser37Valfs*3) Unknown - pathogenic g.38591649del g.38299448del - - SPRED1_000120 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Unknown - - - 0 - DNA SEQ, MLPA blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile Unknown - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - DNA, RNA SEQ blood - NF-2 - PubMed: Spencer 2011 carries a pathogenic NF2 mutation - - India Indian - 0 - - 1 Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile Unknown - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - PubMed: Spencer 2011 - M - - - - 0 - - 1 Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile Unknown - 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 - DNA SEQ blood - cafe-au-lait spots, multiple - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
?/. - c.124G>A r.(?) p.(Val42Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.131T>A r.(?) p.(Val44Asp) Unknown - VUS g.38591672T>A g.38299471T>A - - SPRED1_000007 Domain: EVH-1 PubMed: Spurlock 2009 - - Germline - - - 0 - DNA SEQ blood - LGSS - PubMed: Spurlock 2009 phenotype of affected son and 2 grandchildren of proband described in {PMID19443465:Spurlock 2009} dbSNP: rs121434318 M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) Unknown - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000008 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Brems et al, 2012 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) Unknown - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 De novo - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.148C>T r.148c>u p.(Gln50*) Unknown - pathogenic g.38591689C>T g.38299488C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems et al, 2012 - rs148646547 Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.177del r.(?) p.(Phe59Leufs*62) Unknown - pathogenic g.38591718del g.38299517del - - SPRED1_000141 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
-?/. - c.182G>A r.(?) p.(Arg61His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.190C>T r.(?) p.(Arg64Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Brems 2007 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Pasmant 2009 ; phenotype of 4 affected first- and second-degree relatives of proband described in {PMID19366998:Pasmant 2009} M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a phenotype of affected son of proband described in {PMID21089071:Denayer 2011a} F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - 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 - DNA SEQ blood - LGSS - PubMed: Denayer 2011a - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Unknown - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - M - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - pathogenic g.38591731C>T g.38299530C>T - - SPRED1_000009 Domain: EVH-1 PubMed: Brems 2007 - - Germline - - - 0 - DNA, RNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/+ 2 c.190C>T r.190c>u p.Arg64* Unknown - 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 - DNA SEQ blood - LGSS - Messiaen UAB, unpublished - F - - - - 0 - - 1 Ludwine Messiaen
+/. - c.207+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.207+1G>T r.33_207del p.Asp11Glufs*52 Unknown - pathogenic g.38591749G>T g.38299548G>T - - SPRED1_000100 novel / Domain: EVH-1 Messiaen UAB, unpublished novel mutation - - Germline - - - 0 - DNA, RNA SEQ blood - LGSS - Wimmer, MUI - M - - - - 0 - - 1 Ludwine Messiaen
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