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LOVD - Variant listings for RB1

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?/? g.5486del c.200del Deletion 2_ex - p.(Pro67Glnfs*10) - frameshift RB1_02024 germline P_20140723_68 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.5489del c.203del deletion 02_ex - p.Asp68Valfs*9 - frameshift RB1_00030 unknown E574 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.5492del c.206del deletion 02_ex - p.His69Leufs*8 - frameshift RB1_00423 somatic E2417 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.5493dup c.207dup insertion 02_ex - p.Val70Cysfs*40 - frameshift RB1_01203 unknown 0773 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.5493T>C c.207T>C Substitution 02_ex - p.His69His - unknown RB1_01754 germline nd unilateral rb germline blood DNA - - - 1 unpublished found as only mutation in unilat. patient and father
?/? g.5494_5495del c.208_209del Deletion 02_ex - - - frameshift RB1_01592 germline bilateral_28 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.5495_5496del c.209_210del deletion 02_ex - p.Val70Glufs*39 - frameshift RB1_00031 unknown TS102 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/+ g.5496insG c.210_211insG insertion 02_ex - p.Arg71Glufs*39 - frameshift RB1_00032 unknown RB202 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published COSM908
?/+ g.5496insG c.210_211insG insertion 02_ex - p.Arg71Glufs*39 - frameshift RB1_00032 unknown not provided unilateral rb somatic retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.5497A>T c.211A>T substitution 02_ex - p.Arg71X - nonsense RB1_01148 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5500G>C c.214G>C substitution 02_ex - p.Glu72Gln - missense RB1_00033 - TS37 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.5500G>T c.214G>T substitution 02_ex - p.Glu72X - nonsense RB1_00977 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.5500G>T c.214G>T substitution 02_ex - p.Glu72X - nonsense RB1_00977 - Fam843 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.5502_5506del c.216_220del deletion 02_ex - p.Glu72Aspfs*36 - frameshift RB1_00845 unknown Fam181 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5502_5506delinsT c.216_220delinsT Other/Complex 02_ex - - - frameshift RB1_01591 germline bilateral_20 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.5503_5506del c.217_220del deletion 02_ex - p.Arg73Leufs*3 - frameshift RB1_00530 unknown JA23 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.5504_5505del c.218_219del deletion 02_ex - - - frameshift RB1_00846 - Fam701 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.5505_5506del c.219_220del deletion 02_ex - p.Arg73Serfs*36 - frameshift RB1_00772 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.5505_5506del c.219_220del deletion 02_ex - p.Arg73Serfs*36 - frameshift RB1_00772 unknown Fam864 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.5505_5506del c.219_220del deletion 02_ex - p.Arg73Serfs*36 - frameshift RB1_00772 unknown Fam71 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5505_5506del c.219_220del deletion 02_ex - p.Arg73Serfs*36 - frameshift RB1_00772 unknown 24 927 bilateral rb unknown nd DNA unknown isolated Munier - Lausanne 1 - Mutation was not found in parents
?/? g.5505_5506del c.219_220del deletion 02_ex - p.(Arg73Serfs*36) - frameshift RB1_00772 unknown 24 927 bilateral rb unknown nd DNA - isolated Munier - Lausanne 1 - Parents were tested, Mutation was not found
?/? g.5505_5506del c.219_220del deletion 02_ex - p.(Arg73Serfs*36) - frameshift RB1_00772 somatic COLO-684 other cancer somatic nd DNA - - COSMIC - COSM13414 1 - -
?/+ g.5505_5506dup c.219_220dup insertion 02_ex - p.Ala74Glufs*4 - frameshift RB1_00513 unknown HC17 bilateral rb germline retinoblastoma DNA heterozygous isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.5505_5506dup c.219_220dup insertion 02_ex - p.Ala74Glufs*4 - frameshift RB1_00513 germline not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5505_5506dup c.219_220dup insertion 02_ex - - - - RB1_00885 - Fam18 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.5504_5505dup c.219_220dup insertion 02_ex - p.Ala74Glufs*4 - frameshift RB1_01317 unknown 1313 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.5506insAG c.220_221del deletion 02_ex - p.Ala74Leufs*35 - frameshift RB1_00321 germline not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.5506_5507dup c.220_221dup Insertion 2_ex - p.(Trp75Leufs*3) - frameshift RB1_02025 germline P_20140723_56 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 - F3100 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 somatic LU-134-A - somatic tumor DNA - - COSMIC - COSM13408 1 published -
+/? - c.224G>A Substitution 02_ex - p.(Trp75*) - nonsense RB1_02036 unknown Tab_1_2 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.5511del c.225del deletion 02_ex - p.Trp75Cysfs*2 - frameshift RB1_00034 unknown E649 unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.5511G>A c.225G>A Substitution 02_ex Stop gained p.Trp75X - unknown RB1_01495 somatic Br121X - somatic tumor DNA - - COSMIC - COSM39160, Parsons et al, 2008 1 published -
+/? g.5510G>A c.225G>A Substitution 2 - - - nonsense RB1_01495 germline 523 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.5513delT c.227delT Deletion 02_ex - p.(Leu76*) - nonsense RB1_01521 somatic S82801 retinoblastoma somatic nd DNA - - Lohmann et al, 1997, (COSM902) 1 published -
?/+ g.5515del c.229del deletion 02_ex - p.Thr77Leufs*34 - frameshift RB1_00035 unknown HCC11C other tumor somatic Hepatocellular Carcinoma DNA heterozygous - Zhang et al., 1994 1 published COSM885
?/? g.5518delT c.232delT Deletion 02_ex - - - frameshift RB1_01594 germline bilateral_33 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.5520G>A c.234G>A Substitution 02_ex Stop gained p.Trp78X - unknown RB1_01496 somatic SK-PN-DW other cancer somatic tumor DNA - - COSMIC - COSM13406 1 published -
?/? g.5521G>T c.235G>T Substitution 02_ex Stop gained p.Glu79X - unknown RB1_01497 somatic 16802 other cancer somatic tumor DNA - - COSMIC - COSM48893 1 published -
?/? g.5524A>G c.238A>G Substitution 02_ex - p.Lys80Glu Lys80Glu unknown RB1_01449 - 960 bilateral rb - Blood DNA - - - 1 - Blood also has hetero p.Arg445X (c.1333C>T)
?/? g.5525_5526del c.239_240del Deletion 2_ex - p.(Lys80Serfs*29) - frameshift RB1_02026 germline P_20140723_48 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/+ g.5526del c.240del deletion 02_ex - - - nonsense RB1_00465 germline E1449 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.5527del c.241del deletion 02_ex - p.Val81Phefs*30 - frameshift RB1_01211 unknown 30 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/+ g.5531C>A c.245C>A substitution 02_ex - p.Ser82X - nonsense RB1_00036 - Lu65 other tumor somatic cell line NSCLC (giant ce DNA - - Murakami et al., 1991 1 published -
?/+ g.5531C>A c.245C>A substitution 02_ex - p.Ser82X - nonsense RB1_00036 - Fam403 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5531C>A c.245C>A substitution 02_ex - p.Ser82X - nonsense RB1_00036 somatic LU-65 other cancer somatic tumor DNA - - COSMIC - COSM905 1 published -
?/? g.5534del c.248del Deletion 2_ex - p.(Ser83Leufs*28) - frameshift RB1_02027 germline P_20140723_61 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/? g.5539del c.253del Deletion 2_ex - p.(Asp85Metfs*26) - frameshift RB1_02028 germline P_20140723_67 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.5545_5546insA c.259_260insA Insertion 02_ex - - - unknown RB1_01696 somatic ng_un_is_tu_156 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.5550G>A c.264G>A substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 - Fam542 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - Fam460 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 - Fam315 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5551G>A c.264+1G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 germline bilateral_22 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.5551G>C c.264+1G>C substitution 02_in altered splicing - - splice RB1_00592 - Fam374 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5551G>C c.264+1G>C substitution 02_in altered splicing - - splice RB1_00592 - Yu28 bilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.5551G>T c.264+1G>T substitution 02_in altered splicing - - splice RB1_00350 - not provided - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.5551G>T c.264+1G>T substitution 02_in altered splicing - - splice RB1_00350 - not provided - - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.5551G>T c.264+1G>T substitution 02_in altered splicing - - splice RB1_00350 - E4 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.5552T>C c.264+2T>C Substitution 02_in altered splicing - - unknown RB1_01474 somatic 16975 other cancer somatic tumor DNA - - COSMIC - COSM49001 1 published -
?/? g.5553A>C c.264+3A>C Substitution 02_in splice - - splice RB1_01593 germline bilateral_31 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.5554A>G c.264+4A>G Substitution 02_in - - - splice RB1_01466 germline E5412 unilateral rb germline blood and tumor DNA heterozygous isolated Lohmann 1 unpublished -
?/? g.5554del c.264+4del deletion 02_in altered splicing - - splice RB1_00737 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.5554del c.264+4del deletion 02_in altered splicing - - splice RB1_00737 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.5555G>A c.264+5G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_01149 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5596dupA c.264+46dupA Substitution 02_in - - - unknown RB1_01826 unknown rs67726364 no cancer unknown nd DNA - - dbSNP 1 published -
-/- g.5625T>C c.264+75T>C substitution 02_in - variant - variant RB1_01005 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
-/- g.5625T>C c.264+75T>C substitution 02_in - variant - variant RB1_01005 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
-/- g.5625T>C c.264+75T>C substitution 02_in - variant - variant RB1_01005 - not provided retinoblastoma unknown nd DNA unknown familial Alonso et al. (2001) Hum Mutat. 2001 May;17(5):437. 1 published -
-/- g.5625T>C c.264+75T>C substitution 02_in - variant - variant RB1_01005 - not provided no cancer unknown nd DNA unknown unknown dbSNP 1 published Frequent polymorphism in Yoruba (MAF: C=0.203)
?/? g.16981G>T c.264+11431G>T substitution 02_in - variant - variant RB1_01077 - not provided no cancer - nd DNA - - - 1 published -
?/? g.17231G>A c.264+11681G>A substitution 02_in - variant - variant RB1_01078 - not provided no cancer - nd DNA - - - 1 published -
?/? g.39374A>G c.265-72A>G substitution 02_in - new splice acceptor - splice RB1_00789 - 012-URB unilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.39443del c.265-3del deletion 02_in altered splicing - - splice RB1_00186 - AND (RB3) unilateral unifocal rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.39444A>G c.265-2A>G substitution 02_in altered splicing - - splice RB1_00322 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.39444A>G c.265-2A>G substitution 02_in altered splicing - - splice RB1_00322 - 0883 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.39444A>G c.265-2A>G substitution 02_in altered splicing - - splice RB1_00322 - RB-21 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.39444A>G c.265-2A>G substitution 02_in altered splicing - - splice RB1_00322 germline #1 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.39445G>A c.265-1G>A Substitution 02_in altered splicing - - unknown RB1_01475 somatic Br111X other cancer somatic tumor DNA - - COSMIC - COSM39409, Parsons et al, 2008 1 published -
?/? g.39445G>T c.265-1G>T Substitution 02_in altered splicing - - unknown RB1_01476 somatic NCI-H2029 other cancer somatic tumor DNA - - COSMIC - COSM13740 1 published -
+/+ g.39446G>T c.265G>T
    + c.1909C>T		 Substitution 03_ex possibly skipping exon03 p.Gly89X - nonsense RB1_01416 - E5454-T unilateral rb somatic tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.39458C>T c.277C>T substitution 03_ex - p.Gln93X - nonsense RB1_01363 - RB-37 unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.39464A>T c.283A>T substitution 03_ex - p.Lys95X - nonsense RB1_01189 - 23 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/+ g.39467_39468delinsC c.286_287delinsC complex 03_ex - p.Lys96Argfs*15 - frameshift RB1_00339 somatic E708 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.39468del c.287del deletion 03_ex - p.Lys96Argfs*15 - frameshift RB1_00037 unknown LuC167C other tumor somatic LuSquamoCa DNA - - Sachse et al., 1994 1 published -
?/+ g.39468del c.287del deletion 03_ex - p.Lys96Argfs*15 - frameshift RB1_00037 unknown E14 - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.39469_39470del c.288_289del deletion 03_ex - p.Glu97Thrfs*12 - frameshift RB1_00038 unknown REK (RB395) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/+ g.39470G>T c.289G>T substitution 03_ex - p.Glu97X - nonsense RB1_00359 somatic E2324 unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.39472A>G c.291A>G Substitution 03_ex - - - silent RB1_01854 germline E5958 unilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.39476_3977del c.295_296del deletion 03_ex - - - frameshift RB1_00619 - not provided unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.39476_39477dupTG c.295_296dupTG Duplication 03_ex - - - frameshift RB1_01715 somatic ng_un_is_tu_227 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.39477G>A c.296G>A substitution 03_ex - p.Trp99X - nonsense RB1_00039 - G349 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - RB244 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - Yu50 unilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.39478G>A c.297G>A substitution 03_ex - p.Trp99X - nonsense RB1_00040 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
201 - 300
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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