Full data view for gene RAPSN

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005055.4 transcript reference sequence.

610 entries on 7 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.-821G>C r.(?) p.(=) Parent #1 - VUS g.47471337C>G g.47449785C>G - - RAPSN_000077 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.-671G>A r.(?) p.(=) Parent #1 - VUS g.47471187C>T g.47449635C>T - - RAPSN_000076 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.-546T>C r.(?) p.(=) Parent #1 - VUS g.47471062A>G g.47449510A>G - - RAPSN_000075 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/- 1 c.-437A>G r.(?) p.(=) Unknown - benign g.47470953T>C g.47449401T>C -365G/A - RAPSN_000054 40 control chromosomes tested PubMed: Muller 2004 - - Germline - 3/40 MnlI - - DNA PCRdig - - Healthy/Control 15286164-c PubMed: Muller 2004 - - - Germany - - - - - 3 Johan den Dunnen
?/. - c.-231C>T r.(?) p.(=) Parent #1 - VUS g.47470747G>A g.47449195G>A - - RAPSN_000074 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 1 c.-210A>G r.(?) p.(=) Paternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt2 PubMed: Ohno 2003 - - - Turkey;Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt2 PubMed: Ohno 2003 - - - Turkey;Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (inferred) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt3 PubMed: Ohno 2003 - - - Iran Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt3 PubMed: Ohno 2003 - - - Iran Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt4 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt4 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (inferred) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt5 PubMed: Ohno 2003 - M - Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (inferred) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt5 PubMed: Ohno 2003 - M - Iraq Jewish - - - - 2 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (inferred) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt6 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 3 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt6 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 3 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt7 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 4 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt7 PubMed: Ohno 2003 - - - Iraq Jewish - - - - 4 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Paternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt8 PubMed: Ohno 2003 - M - Yemen Jewish - - - - 3 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Maternal (confirmed) - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt8 PubMed: Ohno 2003 - M - Yemen Jewish - - - - 3 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat16 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat16 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat19 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat19 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat20 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat20 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat21 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat21 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat22 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat22 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat23 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat23 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat24 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat24 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #1 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat25 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-210A>G r.(?) p.(=) Parent #2 - pathogenic g.47470726T>C g.47449174T>C -38A>G - RAPSN_000012 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat25 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-199C>G r.(?) p.(=) Parent #2 - pathogenic g.47470715G>C g.47449163G>C -27C>G - RAPSN_000011 not in 400 normal chromosomes; changes E-box CAGCTG to GAGCTG PubMed: Ohno 2003, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CMS 12651869-Pt1 PubMed: Ohno 2003 - F - United States - - - - - 2 Johan den Dunnen
+/. 1 c.-199C>G r.(?) p.(=) Parent #2 - pathogenic g.47470715G>C g.47449163G>C -27C>G - RAPSN_000011 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat1 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.-199C>G r.(?) p.(=) Parent #1 - pathogenic g.47470715G>C g.47449163G>C -27C>G - RAPSN_000011 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat1 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.-199C>G r.(?) p.(=) Parent #1 - pathogenic g.47470715G>C g.47449163G>C -27C>G - RAPSN_000011 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat35 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
+?/. 1 c.-198del r.(?) p.(=) Parent #2 - likely pathogenic g.47470714del g.47449162del -198delA - RAPSN_000065 c.-199C>G is a pathogenic change - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - M - United States - - - - - 1 Tom Winder
-/. - c.-72C>T r.(?) p.(=) Parent #1 - benign g.47470588G>A g.47449036G>A - - RAPSN_000073 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 1_8 c.? r.0? p.0? Parent #1 - pathogenic g.? - - - RAPSN_000000 4.5 Kb RAPSN deletion; compound heterozygous with 2nd pathogenic variant - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. _1_8_ c.? r.? p.? Parent #2 - pathogenic g.? - - - RAPSN_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 1 c.7C>A r.(?) p.(Gln3Lys) Maternal (confirmed) - pathogenic g.47470510G>T g.47448958G>T - - RAPSN_000013 - PubMed: Muller 2003 - - Germline - - SduI+ - - DNA SEQ - - CMS 12796535-Pat8b PubMed: Muller 2003 affected brother and sister M - Germany - - - - - 1 Angela Abicht
+/. 1 c.7C>A r.(?) p.(Gln3Lys) Maternal (confirmed) - pathogenic g.47470510G>T g.47448958G>T - - RAPSN_000013 - PubMed: Muller 2003 - - Germline - - SduI+ - - DNA SEQ - - CMS 12796535-Pat8s PubMed: Muller 2003 affected brother and sister F - Germany - - - - - 1 Angela Abicht
+/. 1 c.7C>A r.(?) p.(Gln3Lys) Parent #1 - pathogenic g.47470510G>T g.47448958G>T - - RAPSN_000013 compound heterozygous with 2nd pathogenic variant - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+?/. - c.38G>A r.(?) p.(Gly13Glu) Unknown - likely pathogenic g.47470479C>T g.47448927C>T - - RAPSN_000092 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Paternal (confirmed) - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Ohno 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS 11791205-Pat1a PubMed: Ohno 2002 3-generation family, sister of 11791205-Pat1b F - United States white >2y6m - - - 3 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Paternal (confirmed) - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Ohno 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS 11791205-Pat1b PubMed: Ohno 2002 3-generation family, brother of 11791205-Pat1a M - United States white - - - - 1 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Paternal (confirmed) - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Maselli 2003 - - Germline - - - - - DNA SEQ - - CMS 12929188-Pat1 PubMed: Maselli 2003 older sibling died at 3m (severe generalized weakness), parents/brother unaffected F - - - - - - - 2 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Parent #2 - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Burke 2003 - - Germline - - - - - DNA SEQ - - CMS 14504330-Pat6 PubMed: Burke 2003 - F - Canada - - - - - 1 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Parent #2 - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat3 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Parent #1 - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat3 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.41T>C r.(?) p.(Leu14Pro) Parent #1 - pathogenic g.47470476A>G g.47448924A>G - - RAPSN_000001 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat31 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.46dup r.(?) p.(Leu16Profs*142) Maternal (confirmed) - pathogenic g.47470471dup g.47448919dup 46insC - RAPSN_000019 - PubMed: Maselli 2003, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CMS 12929188-Pat2 PubMed: Maselli 2003 older sister born with severe weakness and arthrogryposis (died at 7m), parents/younger brother unaffected F - - - - - - - 2 Johan den Dunnen
+/. 1 c.46dup r.(?) p.(Leu16Profs*142) Parent #2 - pathogenic g.47470471dup g.47448919dup 46insC - RAPSN_000019 - PubMed: Burke 2003 - - Germline - - - - - DNA SEQ - - CMS 14504330-Pat1 PubMed: Burke 2003 - F - Canada - - - - - 1 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Gln21*) Parent #1 - pathogenic g.47470456G>A g.47448904G>A - - RAPSN_000041 - PubMed: M¸ller 2007 - - Germline - - - - - DNA SEQ - - CMS - PubMed: M¸ller 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.61C>T r.(?) p.(Gln21*) Parent #1 - pathogenic g.47470456G>A g.47448904G>A - - RAPSN_000041 compound heterozygous with 2nd pathogenic variant - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 1 c.74C>T r.(?) p.(Ala25Val) Parent #2 - pathogenic g.47470443G>A g.47448891G>A - - RAPSN_000036 - PubMed: Cossins 2006 - - Germline - - - - - DNA SEQ - - CMS 16945936-Pat1 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.133G>A r.(?) p.(Val45Met) Paternal (confirmed) - pathogenic g.47470384C>T g.47448832C>T - - RAPSN_000039 - PubMed: Maselli 2007, OMIM:var0010 - - Germline - - - - - DNA SEQ - - CMS 17594401-Pat PubMed: Maselli 2007, OMIM:var0010 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.133G>A r.(?) p.(Val45Met) Parent #1 - pathogenic g.47470384C>T g.47448832C>T - - RAPSN_000039 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat30 PubMed: Milone 2009 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.133G>A r.(?) p.(Val45Met) Parent #1 - likely pathogenic g.47470384C>T g.47448832C>T - - RAPSN_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909254 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.133G>A r.(?) p.(Val45Met) Unknown ACMG likely pathogenic g.47470384C>T g.47448832C>T - - RAPSN_000039 ACMG: PS3,PM2,PP1,PP3; no second variant detected in RAPSN, CNV analysis negative; Milone et al. 2009. Neurology 3: 228; Maselli et al. 2007. Clin Genet 1: 63 - - rs121909254 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.140G>A r.(?) p.(Gly47Asp) Unknown - VUS g.47470377C>T - RAPSN(NM_005055.5):c.140G>A (p.(Gly47Asp)) - RAPSN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.148_165del r.(?) p.(Val50_Glu55del) Parent #2 - pathogenic g.47470353_47470370del g.47448801_47448818del - - RAPSN_000048 - PubMed: Milone 2009 - - Germline - - - - - DNA SEQ - - CMS 19620612-Pat26 PubMed: Milone 2009 - M - - - - - - - 1 Johan den Dunnen
-/. - c.162G>A r.(?) p.(Ser54=) Unknown - benign g.47470355C>T - RAPSN(NM_005055.4):c.162G>A (p.(Ser54=)), RAPSN(NM_005055.5):c.162G>A (p.S54=) - RAPSN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A r.(?) p.(Ser54=) Unknown - likely benign g.47470355C>T - RAPSN(NM_005055.4):c.162G>A (p.(Ser54=)), RAPSN(NM_005055.5):c.162G>A (p.S54=) - RAPSN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.172C>T r.(?) p.(Arg58Cys) Unknown - benign g.47470345G>A g.47448793G>A - - RAPSN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.172C>T r.(?) p.(Arg58Cys) Unknown - benign g.47470345G>A g.47448793G>A 172C/T - RAPSN_000004 control chromosomes tested PubMed: Ohno 2002 - - Germline - 19/192 - - - DNA SEQ - - CMS 11791205-c PubMed: Ohno 2002 - - - United States - - - - - 19 Johan den Dunnen
+/. 1i c.192+2T>G r.spl p.? Paternal (confirmed) - pathogenic g.47470323A>C g.47448771A>C IVS1+2T>G - RAPSN_000052 - PubMed: Brugnoni 2010 - - Germline - - - - - DNA SEQ - - CMS 20157724-Pat PubMed: Brugnoni 2010 - F - - - - - - - 2 Johan den Dunnen
+/. 1i c.193-15C>A r.(192_193ins193-13_193-1) p.(fs*) Paternal (confirmed) - pathogenic g.47469717G>T g.47448165G>T IVS1-15C>A - RAPSN_000034 creates potential new splice site, tested in vitro PubMed: Muller 2006, OMIM:var0008 - - Germline - - - - - DNA SEQ - - CMS 16931511-Pat1 PubMed: Muller 2006, OMIM:var0008 first of two children of a german father and czech mother, both of the unaffected parents carried one of the mutations heterozygously F - - - - - - - 1 Johan den Dunnen
+/. 1i c.193-15C>A r.spl? p.(fs*) Parent #1 - pathogenic g.47469717G>T g.47448165G>T IVS1-15C>A - RAPSN_000034 compound heterozygous with 2nd pathogenic variant; creates potential new splice acceptor site - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+?/. - c.193-15C>A r.(?) p.(=) Unknown ACMG likely pathogenic g.47469717G>T - - - RAPSN_000034 - - - - Germline - - - - - DNA SEQ - - CMS11 25 - - M - - - - - - - 1 Martin Krenn
-/. - c.193-15C>T r.(=) p.(=) Unknown - benign g.47469717G>A g.47448165G>A RAPSN(NM_005055.5):c.193-15C>T - RAPSN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193-15C>T r.(=) p.(=) Unknown - benign g.47469717G>A g.47448165G>A RAPSN(NM_005055.5):c.193-15C>T - RAPSN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193-15C>T r.(=) p.(=) Unknown - benign g.47469717G>A g.47448165G>A RAPSN(NM_005055.5):c.193-15C>T - RAPSN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.193-15C>T r.(?) p.(=) Unknown - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - - 259627 rs45547231 Unknown ? 0.15 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat1 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat2 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat3 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat4 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #2 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat4 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat5 PubMed: Ohno 2004 - M - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat6 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #2 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat6 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat7 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat8 PubMed: Ohno 2004 - M - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat9 PubMed: Ohno 2004 - - - United States - - - - - 1 Johan den Dunnen
-/. 1i c.193-15C>T r.(?) p.(=) Parent #1 - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - PubMed: Ohno 2004 - - Germline - - - - - DNA SEQ - - CMS 14729848-Pat10 PubMed: Ohno 2004 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.196G>A r.(?) p.(Ala66Thr) Unknown - VUS g.47469699C>T - RAPSN(NM_005055.4):c.196G>A (p.(Ala66Thr)) - RAPSN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207G>A r.(?) p.(=) Unknown - VUS g.47469688C>T - RAPSN(NM_005055.4):c.207G>A (p.(Gln69=)) - RAPSN_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215C>A r.(?) p.(Thr72Lys) Unknown - VUS g.47469680G>T - RAPSN(NM_005055.5):c.215C>A (p.(Thr72Lys)) - RAPSN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241T>C r.(?) p.(Phe81Leu) Parent #1 - benign g.47469654A>G g.47448102A>G - - RAPSN_000072 - - - rs57878668 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.241T>C r.(?) p.(Phe81Leu) Unknown - likely benign g.47469654A>G g.47448102A>G RAPSN(NM_005055.4):c.241T>C (p.(Phe81Leu)) - RAPSN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.258C>A r.(?) p.(Tyr86*) Parent #2 - pathogenic g.47469637G>T g.47448085G>T - - RAPSN_000031 - PubMed: Ioos 2004 - - Germline - - - - - DNA SEQ - - CMS 15328566-Pat1 PubMed: Ioos 2004 - F - France - - - - - 1 Johan den Dunnen
?/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - VUS g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K) - RAPSN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K) - RAPSN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K) - RAPSN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - likely pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - - - DNA SEQ blood - CMS - - - F no Brazil - 16y - - - 1 Eduardo Estephan
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