Full data view for gene REEP1

Information The variants shown are described using the NM_022912.2 transcript reference sequence.

331 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

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.-565T>C r.(?) p.(=) Unknown - VUS g.86565198A>G g.86338075A>G REEP1(NM_001164730.2):c.2T>C (p.M1?) - REEP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-538C>A r.(?) p.(=) Unknown - likely benign g.86565171G>T - REEP1(NM_001164730.2):c.29C>A (p.T10N) - REEP1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-506C>T r.(?) p.(=) Unknown - likely benign g.86565139G>A g.86338016G>A REEP1(NM_001164730.1):c.53+8C>T - REEP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-497G>T r.(?) p.(=) Unknown - benign g.86565130C>A g.86338007C>A REEP1(NM_001164730.1):c.53+17G>T, REEP1(NM_001164730.2):c.53+17G>T - REEP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-497G>T r.(?) p.(=) Unknown - benign g.86565130C>A - REEP1(NM_001164730.1):c.53+17G>T, REEP1(NM_001164730.2):c.53+17G>T - REEP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-1_2del r.(?) p.0? Unknown - pathogenic g.86564632_86564634del g.86337509_86337511del -1_2delCAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 4-generation family, 3 affecteds, 1 unaffected carrier M - Belgium - - - - - 4 Christian Beetz
+/. 1 c.-1_2del r.(?) p.0? Unknown - pathogenic g.86564632_86564634del g.86337509_86337511del -1_2delCAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Beetz 2008 4-generation family, 3 affecteds, 1 unaffected carrier M - Belgium - - - - - 1 Christian Beetz
+/. 1 c.-1_2del r.(?) p.0? Paternal (confirmed) - pathogenic g.86564632_86564634del g.86337509_86337511del -1_2delCAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 4-generation family, 3 affecteds, 1 unaffected carrier F - Belgium - - - - - 1 Christian Beetz
+/. 1 c.-1_2del r.(?) p.0? Maternal (confirmed) - pathogenic g.86564632_86564634del g.86337509_86337511del -1_2delCAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 4-generation family, 3 affecteds, 1 unaffected carrier M - Belgium - - - - - 1 Christian Beetz
+/. _1_7_ c.(?_-1)_(*1_?)del r.0 p.0? Unknown - pathogenic g.86444222_86564634del - del 2p11.2-p12 - REEP1_000048 genes screened REEP1, LRRTM1, CTNNA2 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rocca 2011 - - De novo yes - - - - DNA arraySNP leukocytes - SPG31 - PubMed: Rocca 2011 2-generation family, 1 affected F - - - - - - - 1 Christian Beetz
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.86564633T>C g.86337510T>C - - REEP1_000030 genes screened ATL1, REEP1 PubMed: de Bot 2013 - - De novo yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: de Bot 2013 1 affected de novo M - Netherlands - - - - - 1 Christian Beetz
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.86564633T>C g.86337510T>C - - REEP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.86564632A>G - - - REEP1_000087 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.32+1G>T r.spl? p.? Unknown - likely pathogenic g.86564601C>A g.86337478C>A - - REEP1_000084 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 1i c.32+9675A>G r.(32_33insN[?]) p.? Maternal (confirmed) - pathogenic (dominant) g.86554927T>C g.86327804T>C - - REEP1_000098 variant prdicted to activate a cryptic splice donor site Journal: Steyaert 2024 - - Germline yes - - - - DNA SEQ-PB - WGS SPG F087.1/2 Journal: Steyaert 2024 family, affected mother/son - - - - - - - - 1 Johan den Dunnen
+/. - c.33-2A>G r.spl? p.(Val11Valfs) Unknown - pathogenic g.86509367T>C g.86282244T>C - - REEP1_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG31 - - - M no Czech Republic - - - - - 5 Christian Beetz
+/. - c.33-2A>G r.spl? p.(Val11Valfs) Unknown - pathogenic g.86509367T>C g.86282244T>C - - REEP1_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG31 - - - F no Czech Republic - - - - - 5 Christian Beetz
+/. - c.33-2A>G r.spl? p.(Val11Valfs) Unknown - pathogenic g.86509367T>C g.86282244T>C - - REEP1_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG31 - - - M no Czech Republic - - - - - 5 Christian Beetz
+/. - c.33-2A>G r.spl? p.(Val11Valfs) Unknown - pathogenic g.86509367T>C g.86282244T>C - - REEP1_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG31 - - - F no Czech Republic - - - - - 5 Christian Beetz
+/. - c.33-2A>G r.spl? p.(Val11Valfs) Unknown - pathogenic g.86509367T>C g.86282244T>C - - REEP1_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG31 - - - M no Czech Republic - - - - - 5 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Unknown - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 5 affecteds F - France - - - - - 5 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 5 affecteds M - France - - - - - 1 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 5 affecteds F - France - - - - - 1 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 5 affecteds M - France - - - - - 1 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 5 affecteds F - France - - - - - 1 Christian Beetz
+/. 1i_2i c.(32+1_33-1)_(105+1_106-1)del r.? p.? Unknown - pathogenic g.(86491165_86509292)_(86509366_86564601)del - del exon 2 - REEP1_000022 - PubMed: Beetz 2013 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Beetz 2013 del exon 2 in patient and mice M - Spain - - - - - 1 Christian Beetz
+/. 1i_5i c.(32+1_33-1)_(417+1_418-1)del r.? p.? Unknown - pathogenic g.(86459926_86479079)_(86509366_86564601)del - del exon 2-5 - REEP1_000046 genes screened SPAST, ATL1, REEP1, SPG7 PubMed: Battini 2011 - - De novo yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Battini 2011 1 affected de novo ? - Italy - - - - - 1 Christian Beetz
+/. 1i_7_ c.(32+1_33-1)_(*1_?)dup r.? p.? Unknown - pathogenic g.(?_86444222)_(86509366_86564601)dup - 33-?_606+?dup - REEP1_000018 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Beetz 2008 2-generation family, 2 affecteds M - Ireland - - - - - 3 Christian Beetz
+/. 1i_7_ c.(32+1_33-1)_(*1_?)dup r.? p.? Paternal (confirmed) - pathogenic g.(?_86444222)_(86509366_86564601)dup - 33-?_606+?dup - REEP1_000018 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Beetz 2008 2-generation family, 2 affecteds F - Ireland - - - - - 1 Christian Beetz
+/. 2 c.49del r.(?) p.(Leu17Phefs*11) Unknown - pathogenic g.86509351del g.86282228del - - REEP1_000019 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds F - France - - - - - 3 Christian Beetz
+/. 2 c.49del r.(?) p.(Leu17Phefs*11) Maternal (confirmed) - pathogenic g.86509351del g.86282228del - - REEP1_000019 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds M - France - - - - - 1 Christian Beetz
+/. 2 c.56C>G r.(?) p.(Pro19Arg) Unknown - pathogenic g.86509342G>C g.86282219G>C - - REEP1_000042 genes screened SPAST, ATL1, REEP1 PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Elert-Dobkowska 2015 3 tested individuals ? - Poland - - - - - 3 Christian Beetz
+/. 2 c.56C>G r.(?) p.(Pro19Arg) Unknown - pathogenic g.86509342G>C g.86282219G>C - - REEP1_000042 genes screened SPAST, ATL1, REEP1 PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Elert-Dobkowska 2015 3 tested individuals ? - Poland - - - - - 1 Christian Beetz
+/. 2 c.56C>G r.(?) p.(Pro19Arg) Unknown - pathogenic g.86509342G>C g.86282219G>C - - REEP1_000042 genes screened SPAST, ATL1, REEP1 PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Elert-Dobkowska 2015 3 tested individuals ? - Poland - - - - - 1 Christian Beetz
+/. 2 c.56C>T r.(?) p.(Pro19Leu) Unknown - pathogenic g.86509342G>A g.86282219G>A - - REEP1_000020 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds M - France - - - - - 3 Christian Beetz
+/. 2 c.56C>T r.(?) p.(Pro19Leu) Paternal (confirmed) - pathogenic g.86509342G>A g.86282219G>A - - REEP1_000020 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds M - France - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.Ala20Glu Unknown - NA g.86509339G>T g.86282216G>T - - REEP1_000005 HeLa cell cDNA co-overexpression with atlastin-1 showed lost interaction with atlastin-1 PubMed: Beetz 2012, OMIM:var0004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Parent #1 - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - rs121918262 Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds F - - - - - - - 8 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Unknown - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds F - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Unknown - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Maternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Maternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Paternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Paternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Paternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0004 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 2-generation family, 8 affecteds M - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Unknown - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 - PubMed: Erro 2014 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Erro 2014 3-generation family, 3 affecteds M - - - - - - - 3 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Paternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 - PubMed: Erro 2014 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Erro 2014 3-generation family, 3 affecteds F - - - - - - - 1 Christian Beetz
+/. 2 c.59C>A r.(?) p.(Ala20Glu) Maternal (confirmed) - pathogenic g.86509339G>T g.86282216G>T - - REEP1_000005 - PubMed: Erro 2014 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Erro 2014 3-generation family, 3 affecteds M - - - - - - - 1 Christian Beetz
+/. - c.59C>A r.(?) p.(Ala20Glu) Unknown - pathogenic g.86509339G>T g.86282216G>T REEP1(NM_022912.2):c.59C>A (p.A20E) - REEP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.60del r.(?) p.(Tyr21Ilefs*7) Unknown - pathogenic g.86509338del g.86282215del - - REEP1_000031 genes screened SPAST, ATL1, REEP1 PubMed: Schlang 2008 - - Germline/De novo (untested) yes - - - - DNA DHPLC, SEQ leukocytes - SPG31 - PubMed: Schlang 2008 father and daughter M - - - - - - - 2 Christian Beetz
+/. 2 c.60del r.(?) p.(Tyr21Ilefs*7) Paternal (confirmed) - pathogenic g.86509338del g.86282215del - - REEP1_000031 genes screened SPAST, ATL1, REEP1 PubMed: Schlang 2008 - - Germline yes - - - - DNA DHPLC, SEQ leukocytes - SPG31 - PubMed: Schlang 2008 father and daughter F - - - - - - - 1 Christian Beetz
-?/. - c.60G>A r.(?) p.(Ala20=) Unknown - likely benign g.86509338C>T g.86282215C>T REEP1(NM_022912.3):c.60G>A (p.A20=) - REEP1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61T>C r.(?) p.(Tyr21His) Unknown - VUS g.86509337A>G - - - REEP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.68C>T r.(?) p.(Ser23Phe) Unknown - pathogenic g.86509330G>A g.86282207G>A - - REEP1_000021 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds, only 1 tested M - France - - - - - 4 Christian Beetz
+/. 2 c.68C>T r.(?) p.(Ser23Phe) Unknown - pathogenic g.86509330G>A g.86282207G>A - - REEP1_000021 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds, only 1 tested F - France - - - - - 1 Christian Beetz
+/. 2 c.68C>T r.(?) p.(Ser23Phe) Paternal (confirmed) - pathogenic g.86509330G>A g.86282207G>A - - REEP1_000021 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds, only 1 tested M - France - - - - - 1 Christian Beetz
+/. 2 c.68C>T r.(?) p.(Ser23Phe) Maternal (confirmed) - pathogenic g.86509330G>A g.86282207G>A - - REEP1_000021 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds, only 1 tested M - France - - - - - 1 Christian Beetz
-?/. - c.88A>C r.(?) p.(Lys30Gln) Unknown - likely benign g.86509310T>G - - - REEP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.89dup r.(?) p.(Asp31Glyfs*3) Unknown - pathogenic g.86509311dup g.86282188dup 89_90insA - REEP1_000049 genes screened SPAST, ATL1, SPG7, L1CAM, PLP1, NIPA1, KIF5A, SPG20, KIAA0196, HSPD1, BSCL2, SPG20, SPG21, REEP1 PubMed: Ishiura 2014 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Ishiura 2014 variant in exon 2 ? - Japan - - - - - 1 Christian Beetz
?/. - c.98A>T r.(?) p.(Lys33Met) Unknown - VUS g.86509300T>A g.86282177T>A - - REEP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Unknown - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier M - Spain - - - - - 6 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Unknown - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier F - Spain - - - - - 1 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Unknown - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier M - Spain - - - - - 1 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Paternal (confirmed) - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier M - Spain - - - - - 1 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Maternal (confirmed) - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier M - Spain - - - - - 1 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Maternal (confirmed) - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier M - Spain - - - - - 1 Christian Beetz
+/. 2 c.104_105del r.(?) p.(Tyr35Cysfs*32) Paternal (confirmed) - pathogenic g.86509295_86509296del g.86282172_86282173del 104_105delAT - REEP1_000009 - PubMed: Beetz 2008 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Beetz 2008 3-generation family, 6 affecteds, 1 unaffected carrier F - Spain - - - - - 1 Christian Beetz
-?/. - c.105T>C r.(?) p.(Tyr35=) Unknown - likely benign g.86509293A>G g.86282170A>G REEP1(NM_022912.2):c.105T>C (p.Y35=) - REEP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.105+6T>C r.spl? p.(=) Unknown - pathogenic g.86509287A>G g.86282164A>G - - REEP1_000032 genes screened SPAST, ATL1, REEP1 PubMed: Schlang 2008 - - Germline yes - - - - DNA DHPLC, SEQ leukocytes - SPG31 - PubMed: Schlang 2008 variant 2 in exon 2 ? - - - - - - - 1 Christian Beetz
+/. 2i c.106-4A>G r.spl p.? Unknown - pathogenic g.86491168T>C g.86264045T>C - - REEP1_000023 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds F - France - - - - - 4 Christian Beetz
+/. 2i c.106-4A>G r.spl p.? Maternal (confirmed) - pathogenic g.86491168T>C g.86264045T>C - - REEP1_000023 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds M - France - - - - - 1 Christian Beetz
+/. 2i c.106-4A>G r.spl p.? Maternal (confirmed) - pathogenic g.86491168T>C g.86264045T>C - - REEP1_000023 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds F - France - - - - - 1 Christian Beetz
+/. 2i c.106-4A>G r.spl p.? Maternal (confirmed) - pathogenic g.86491168T>C g.86264045T>C - - REEP1_000023 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 4 affecteds F - France - - - - - 1 Christian Beetz
+/. 2i_3i c.(105+1_106-1)_(182+1_183-1)del r.? p.? Unknown - pathogenic g.(86481938_86491087)_(86509366_86564601)del - del exon 3 - REEP1_000026 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 4 affecteds, only 1 tested F - France - - - - - 4 Christian Beetz
+/. 2i_3i c.(105+1_106-1)_(182+1_183-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86481938_86491087)_(86509366_86564601)del - del exon 3 - REEP1_000026 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 4 affecteds, only 1 tested F - France - - - - - 1 Christian Beetz
+/. 2i_3i c.(105+1_106-1)_(182+1_183-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86481938_86491087)_(86509366_86564601)del - del exon 3 - REEP1_000026 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 4 affecteds, only 1 tested M - France - - - - - 1 Christian Beetz
+/. 2i_3i c.(105+1_106-1)_(182+1_183-1)del r.? p.? Maternal (confirmed) - pathogenic g.(86481938_86491087)_(86509366_86564601)del - del exon 3 - REEP1_000026 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 4 affecteds, only 1 tested M - France - - - - - 1 Christian Beetz
+/. 3 c.106del r.(?) p.(Val36SerfsTer4) Unknown - pathogenic g.86491165del g.86264042del - - REEP1_000024 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 3 affecteds M - France - - - - - 3 Christian Beetz
+/. 3 c.106del r.(?) p.(Val36SerfsTer4) Paternal (confirmed) - pathogenic g.86491165del g.86264042del - - REEP1_000024 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 3 affecteds M - France - - - - - 1 Christian Beetz
+/. 3 c.106del r.(?) p.(Val36SerfsTer4) Paternal (confirmed) - pathogenic g.86491165del g.86264042del - - REEP1_000024 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 3 affecteds M - France - - - - - 1 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Unknown - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 6 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Maternal (confirmed) - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 1 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Maternal (confirmed) - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 1 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Maternal (confirmed) - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 1 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Maternal (confirmed) - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 1 Christian Beetz
+/. 3 c.124T>C r.(?) p.(Trp42Arg) Maternal (confirmed) - pathogenic g.86491146A>G g.86264023A>G - - REEP1_000025 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 3-generation family, 6 affecteds F - France - - - - - 1 Christian Beetz
+/. - c.124T>C r.(?) p.(Trp42Arg) Unknown - pathogenic g.86491146A>G g.86264023A>G REEP1(NM_022912.3):c.124T>C (p.W42R) - REEP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.164C>A r.(?) p.(Thr55Lys) Unknown - pathogenic g.86491106G>T g.86263983G>T - - REEP1_000033 genes screened SPAST, ATL1, REEP1 PubMed: Schlang 2008 - - Germline yes - - - - DNA DHPLC, SEQ leukocytes - SPG31 - PubMed: Schlang 2008 variant in exon 3 ? - - - - - - - 1 Christian Beetz
?/. 3 c.164C>A r.(?) p.(Thr55Lys) Unknown ACMG VUS g.86491106G>T - - - REEP1_000033 ACMG: PM2, PP3 PMID: 24478229; PMID: 18644145 - - Germline ? - - - - DNA SEQ-NG-I - - SPG31 171952 - - F ? Germany - - - - - 1 Andreas Laner
?/. 3 c.166G>A r.(?) p.(Asp56Asn) Parent #1 - VUS g.86491104C>T g.86263981C>T - - REEP1_000001 - PubMed: Lynch 2015, Journal: Lynch 2015 - - Germline yes - - - - DNA SEQ - - SPG31 - PubMed: Lynch 2015, Journal: Lynch 2015 single patient M - Greece - >22y - - - 1 David Lynch
+/. 3 c.166G>A r.(?) p.(Asp56Asn) Unknown - pathogenic g.86491104C>T g.86263981C>T - - REEP1_000001 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds M - France - - - - - 2 Christian Beetz
+/. 3 c.166G>A r.(?) p.(Asp56Asn) Paternal (confirmed) - pathogenic g.86491104C>T g.86263981C>T - - REEP1_000001 genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1 PubMed: Goizet 2011 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Goizet 2011 2-generation family, 2 affecteds M - France - - - - - 1 Christian Beetz
+/. 3 c.166G>A r.(?) p.(Asp56Asn) Unknown - pathogenic g.86491104C>T g.86263981C>T - - REEP1_000001 genes screened ATL1, CYP7B1, SPG7, SPAST, REEP1 PubMed: Polymeris 2016 - - Germline/De novo (untested) yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Polymeris 2016 2-generation family, 2 affecteds M - Greece - - - - - 2 Christian Beetz
+/. 3 c.166G>A r.(?) p.(Asp56Asn) Paternal (confirmed) - pathogenic g.86491104C>T g.86263981C>T - - REEP1_000001 genes screened ATL1, CYP7B1, SPG7, SPAST, REEP1 PubMed: Polymeris 2016 - - Germline yes - - - - DNA MLPA, SEQ leukocytes - SPG31 - PubMed: Polymeris 2016 2-generation family, 2 affecteds M - Greece - - - - - 1 Christian Beetz
+/. - c.175del r.(?) p.(Leu59Phefs*10) Unknown - pathogenic g.86491096del - REEP1(NM_022912.3):c.175delC (p.L59Ffs*10) - REEP1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Trp61*) Unknown - pathogenic g.86491088C>T g.86263965C>T - - REEP1_000052 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. 3i c.183-2A>G r.spl p.? Parent #1 - pathogenic g.86481939T>C g.86254816T>C - - REEP1_000003 not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0002 - rs387906264 Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006, PubMed: Züchner 2006 3-generation family, 7 affecteds M - United States - - - - - 8 Christian Beetz
+/. 3i c.183-2A>G r.spl p.? Unknown - pathogenic g.86481939T>C g.86254816T>C - - REEP1_000003 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0002 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 7 affecteds F - - - - - - - 1 Christian Beetz
+/. 3i c.183-2A>G r.spl p.? Unknown - pathogenic g.86481939T>C g.86254816T>C - - REEP1_000003 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0002 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 7 affecteds M - - - - - - - 1 Christian Beetz
+/. 3i c.183-2A>G r.spl p.? Paternal (confirmed) - pathogenic g.86481939T>C g.86254816T>C - - REEP1_000003 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0002 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 7 affecteds M - - - - - - - 1 Christian Beetz
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.