Full data view for gene VPS13B

Information The variants shown are described using the NM_017890.3 transcript reference sequence.

601 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     
+/+ 01-09a c.(?-12444)_996+?del r.? p.? Both (homozygous) - pathogenic g.(?_100013161)_(100133463_?)del - a 140-kb homozygous deletion with breakpoints between probes A_14_p12741-normal, A_16_p18412462-deleted, A_16_p01978354-deleted, and A_16_p18412663-normal: deletion of exons 1-7. - VPS13B_000006 1 COH1 family (hom) PubMed: Balikova et al. 2011 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-111_(762+1_763-1){0} r.0? p.0? Parent #1 - likely pathogenic (recessive) g.(?_100025494)_(100123508_100127927)del g.(?_99013266)_(99111280_99115699)del ex1-6 deletion - VPS13B_000380 - PubMed: Taylor 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 14017275 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic g.? - del ex8 - RP1_000000 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 646 PubMed: Stone 2017 family, 2 affected F - (United States) - - 0 - - 2 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - del ex17-19 - RP1_000000 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 645 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/+ 01-20 c.-79752_2516-7756del r.? p? Maternal (confirmed) - pathogenic g.99945853_100278670del g.98933625_99266442del 315 kb del: exons 1-17: chr8(hg18):100015029...100347846; c.1-2515del - VPS13B_000008 1 German/African COH1 family (com-het); Chr8(hg18):g.100015029_100347846del = Chr8(hg19):g.99945853_100278670del Rivera-Brugués 2011 - - SUMMARY record yes 0/1612 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 01-09a c.-23990_1207-5855del r.? p.? Both (homozygous) - pathogenic g.100001615_100141005del g.98989387_99128777del Del promotor - 8: 100070791 - 100210181 bp (hg18) - VPS13B_000007 2 Belgian COH1 families (hom); Deletion of exons 1-9a PubMed: Balikova et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.3G>A r.(?) p.0? Both (homozygous) - pathogenic g.100026019G>A g.99013791G>A NM_152564: c.G3A; p.M1I - VPS13B_000172 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB5828 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 1 Johan den Dunnen
?/. - c.8A>T r.(?) p.(Glu3Val) Unknown - VUS g.100026024A>T g.99013796A>T VPS13B(NM_017890.4):c.8A>T (p.E3V) - COX6C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.22_23delCCinsA r.22_23delccinsa p.Pro8Lysfs*3 Unknown - pathogenic g.100026038_100026039delinsA g.99013810_99013811delinsA c.22_23delCCinsA: p.Pro8fsX3 - VPS13B_000009 1 Danish COH1 patient (com-het) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148-8608G>C - p.(=) Both (homozygous) - VUS g.100042043G>C g.99029815G>C - - VPS13B_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/+ 3 c.219_220delinsT r.(219_220delinsu) p.(Lys73Asnfs*8) Unknown - pathogenic (recessive) g.100050722_100050723delinsT g.99038494_99038495delinsT 219_20delACinsT - VPS13B_000010 1 COH1 family (com-het) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.219_220delinsT r.(219_220delinsu) p.(Lys73Asnfs*8) Maternal (confirmed) - pathogenic (recessive) g.100050722_100050723delinsT g.99038494_99038495delinsT 219_20delACinsT - VPS13B_000010 - PubMed: Parri 2010 - - Germline - - - 0 - DNA SEQ - - COH-1 Pat7 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - 1 Johan den Dunnen
+/+ 04-17 c.291+6437_2334-3424del r.? p.? Unknown - pathogenic g.100057231_100201680del g.99045003_99189452del Del 4-16: 100126407 - 100270856 bp (hg18) - VPS13B_000011 1 COH1 family (com-het); Deletion of exons 4-17 PubMed: Balikova et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291+28132C>A r.(?) p.(=) Unknown - association g.100078926C>A g.99066698C>A - - VPS13B_000378 associated with facial morphology (nose) Huang 2020 (submitted) - rs11988731 Germline - - - 0 - DNA arraySNP - - ? - Huang 2020 (submitted) GWAS study 3D normal human faces in 2,659 individuals - - China Han - 0 - - 1 Yin Huang
-?/. - c.292-3T>C r.spl? p.? Unknown - likely benign g.100108537T>C - VPS13B(NM_017890.4):c.292-3T>C - COX6C_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i_13i c.(291+1_292-1)_(1843+1_1844-1)dup r.(292_1843dup) p.? Unknown - pathogenic (recessive) g.(100050795_100108539)_(100155394_100160068)dup - dup ex4-13 - VPS13B_000013 1 COH1 family (com-het) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i_13i c.(291+1_292-1)_(1843+1_1844-1)dup r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(100050795_100108539)_(100155394_100160068)dup - dup ex4-13 - VPS13B_000013 - PubMed: Parri 2010 - - Germline - - - 0 - DNA SEQ - - COH-1 Pat2 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - 1 Johan den Dunnen
+/+ 3i_16i c.(291+1_292-1)_(2333+1_2334-1)del r.(292_2333del) p.(Asp99Glnfs*9) Unknown - pathogenic (recessive) g.(100050795_100108539)_(100182392_100205103)del - del ex4-16 - VPS13B_000015 1 COH1 family (com-het) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i_16i c.(291+1_292-1)_(2333+1_2334-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(100050795_100108539)_(100182392_100205103)del - del ex4-16 - VPS13B_000015 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat10A PubMed: Parri 2010 2-generation family, affected brothers, unaffected heterozygous carrier parents M no - - - 0 - - 2 Johan den Dunnen
+/. 3i_16i c.(291+1_292-1)_(2333+1_2334-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(100050795_100108539)_(100182392_100205103)del - del ex4-16 - VPS13B_000015 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat10B PubMed: Parri 2010 brother M no - - - 0 - - 1 Johan den Dunnen
-?/. - c.358A>G r.(?) p.(Ile120Val) Unknown - likely benign g.100108606A>G g.99096378A>G VPS13B(NM_017890.4):c.358A>G (p.I120V) - VPS13B_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.401_402insT r.(?) p.(Pro136Thrfs*10) Unknown - pathogenic (recessive) g.100108649_100108650insT g.99096421_99096422insT 402insT - VPS13B_000014 1 COH1 family (com-het) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.401_402insT r.(404dupu) p.(Leu135Phefs*11) Maternal (confirmed) - pathogenic (recessive) g.100108649_100108650insT g.99096421_99096422insT 402insT - VPS13B_000014 - PubMed: Parri 2010 - - Germline - - - 0 - DNA SEQ - - COH-1 Pat4 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - 1 Johan den Dunnen
+/. 4i c.412+1G>T r.spl p.? Both (homozygous) - pathogenic g.100108661G>T g.99096433G>T NM_152564: c.412+1G>T - VPS13B_000173 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB5552 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 2 Johan den Dunnen
./. - c.412+3161_580+208del r.(?) p.(Gly138_Ser193del) Both (homozygous) - pathogenic g.100111821_100115556del g.99099593_99103328del - - VPS13B_000169 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/+? 4i c.413-2A>G r.spl p.? Unknown - likely pathogenic (recessive) g.100115179A>G g.99102951A>G IVS4-2A>G - VPS13B_000012 1 COH1 family (com-het) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.413-2A>G r.spl? p? Maternal (confirmed) - pathogenic (recessive) g.100115179A>G g.99102951A>G IVS4-2A>G - VPS13B_000012 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat10A PubMed: Parri 2010 2-generation family, affected brothers, unaffected heterozygous carrier parents M no - - - 0 - - 2 Johan den Dunnen
+/. 4i c.413-2A>G r.spl? p? Maternal (confirmed) - pathogenic (recessive) g.100115179A>G g.99102951A>G IVS4-2A>G - VPS13B_000012 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat10B PubMed: Parri 2010 brother M no - - - 0 - - 1 Johan den Dunnen
+/+ 06-15 c.413-?_2013+?del r.(413_2013del) p.(Gly138Glufs*4) Both (homozygous) - pathogenic g.(?_100115181)_(100160238_?)del - c.413_2013del: p.Gly138GlufsX4 (exon 5-14) - VPS13B_000016 1 Iranian COH1 family (hom); Deletion of exons 6-15 PubMed: Sheifert et al. 2008 - - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.436C>T r.(?) p.(Arg146*) Unknown - pathogenic g.100115204C>T g.99102976C>T EX5 - VPS13B_000138 1 French COH1 patient (com-het) PubMed: El Chehadeh et al. 2010 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 06 c.467_470delATAA r.467_470delauaa p.Asn156Ilefs*4 Unknown - pathogenic g.100115235_100115238del g.99103007_99103010del c.463_466delATAA: p.Asn156fsX4 - VPS13B_000018 1 British COH1 patient (hom) PubMed: Kolehmainen et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.468_471del r.(?) p.(Asn157Serfs*3) Unknown - likely pathogenic g.100115236_100115239del g.99103008_99103011del VPS13B;NM_017890.4;;c.[468_471del];[10156dup];p.[(Asn157Serfs*3)];[(Thr3386Asnfs*3)] - VPS13B_000414 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - 0 - DNA SEQ-NG-I - 176 genes panel retinal disease 52 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
+/+ 06 c.478_481delCTAA r.(?) p.(Leu160Asnfs*21) Unknown - pathogenic g.100115246_100115249del g.99103018_99103021del c.477_480delACTA (p.I159fsX21) - VPS13B_000141 1 French COH1 patient (com-het) PubMed: El Chehadeh et al. 2010 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.505C>A r.(?) p.(Leu169Ile) Unknown - VUS g.100115273C>A g.99103045C>A VPS13B(NM_017890.4):c.505C>A (p.L169I) - COX6C_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560G>A r.(?) p.(Arg187His) Unknown - VUS g.100115328G>A g.99103100G>A VPS13B(NM_017890.4):c.560G>A (p.R187H) - VPS13B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.560G>A r.(?) p.(Arg187His) Unknown - likely benign g.100115328G>A g.99103100G>A VPS13B(NM_017890.4):c.560G>A (p.R187H) - VPS13B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.560G>A r.(?) p.(Arg187His) Unknown - VUS g.100115328G>A g.99103100G>A VPS13B(NM_017890.4):c.560G>A (p.R187H) - VPS13B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565T>C r.(?) p.(Phe189Leu) Unknown - VUS g.100115333T>C g.99103105T>C VPS13B(NM_017890.4):c.565T>C (p.F189L) - VPS13B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.(581_2333del) p.(Ala194Glyfs*9) Unknown - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 shared haplotype; 1 Greek COH1 family (hom) and 3 Italian COH1 families (2 com-het, 1 hom) - - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 - PubMed: Parri 2010 - - Germline - - - 0 - DNA SEQ - - COH-1 Pat5 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - 0 - - 1 Johan den Dunnen
+/. 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 - PubMed: Parri 2010 - - Germline - - - 0 - DNA SEQ - - COH-1 Pat8 PubMed: Katzaki 2007, PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - 0 - - 1 Johan den Dunnen
+/. 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat9A PubMed: Parri 2010 2-generation family, affected sisters, unaffected heterozygous carrier parents F no Italy - - 0 - - 2 Johan den Dunnen
+/. 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 - PubMed: Parri 2010 - - Germline yes - - 0 - DNA SEQ - - COH-1 Pat9B PubMed: Parri 2010 sister F no Italy - - 0 - - 1 Johan den Dunnen
+/. 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 deletion on shared haplotype PubMed: Bugiani 2008, PubMed: Parri 2010 - - Germline yes - - 0 - DNA MLPA, SEQ - - COH-1 Fam PubMed: Bugiani 2008, PubMed: Parri 2010 7-generation family, 12 affected F;M yes Greece - - 0 - - 12 Johan den Dunnen
?/. - c.584C>G r.(?) p.(Thr195Ser) Unknown - VUS g.100123329C>G - VPS13B(NM_017890.4):c.584C>G (p.T195S) - COX6C_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.626_627delCA r.(626_627delca) p.(Thr209Serfs*4) Unknown - pathogenic g.100123371_100123372del g.99111143_99111144del c.625_626delAC: p.Thr209SerfsX4 (exon 6) - VPS13B_000019 1 Belgian/ Italian COH1 family (com-het) PubMed: Sheifert et al. 2008 - - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690C>T r.(?) p.(Tyr230=) Unknown - likely benign g.100123435C>T g.99111207C>T VPS13B(NM_017890.4):c.690C>T (p.Y230=) - VPS13B_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.750A>G r.(?) p.(Pro250=) Unknown - likely benign g.100123495A>G - VPS13B(NM_017890.4):c.750A>G (p.P250=) - COX6C_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.885C>T r.(?) p.(Gly295=) Unknown - VUS g.100128050C>T g.99115822C>T VPS13B(NM_017890.4):c.885C>T (p.G295=) - COX6C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.916_917delGA r.(916_917delga) p.(Asp306Tyrfs*9) Unknown - pathogenic g.100128081_100128082del g.99115853_99115854del c.916_917delGA: p.Asp306TyrfsX9 (exon 7) - VPS13B_000020 1 Belgian COH1 family (com-het), 2 French siblings with COH1 (com-het) PubMed: Sheifert et al. 2008, PubMed: El Chehadeh et al. 2010 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.921G>A r.(?) p.(Met307Ile) Unknown - likely benign g.100128086G>A g.99115858G>A VPS13B(NM_017890.4):c.921G>A (p.M307I) - VPS13B_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.979C>T r.(?) p.(Gln327*) Parent #1 - likely pathogenic g.100133446C>T g.99121218C>T VPS13B, variant 1: c.979C>T/p.Q327*, variant 2: c.7753G>A/p.E2585K - VPS13B_000419 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 595 PubMed: Weisschuh 2020 Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.979C>T r.(?) p.(Gln327*) Parent #1 - likely pathogenic g.100133446C>T g.99121218C>T VPS13B, variant 1: c.979C>T/p.Q327*, variant 2: c.7753G>A/p.E2585K - VPS13B_000419 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 596 PubMed: Weisschuh 2020 Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
-?/. - c.983A>G r.(?) p.(His328Arg) Unknown - likely benign g.100133450A>G g.99121222A>G VPS13B(NM_017890.4):c.983A>G (p.H328R) - COX6C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.983A>G r.(?) p.(His328Arg) Unknown - likely benign g.100133450A>G g.99121222A>G VPS13B(NM_017890.4):c.983A>G (p.H328R) - COX6C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.983A>G r.(?) p.(His328Arg) Unknown - likely benign g.100133450A>G - VPS13B(NM_017890.4):c.983A>G (p.H328R) - COX6C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9a c.1006C>T r.(?) p.(Gln336*) Unknown - pathogenic g.100133473C>T g.99121245C>T c.1006C>T (p.Q336X) - VPS13B_000142 1 French COH1 family (com-het) PubMed: El Chehadeh et al. 2010 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1041A>G r.(?) p.(Ser347=) Unknown - likely benign g.100133508A>G g.99121280A>G VPS13B(NM_017890.4):c.1041A>G (p.S347=) - VPS13B_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1081G>A r.(?) p.(Asp361Asn) Unknown - likely benign g.100133548G>A g.99121320G>A VPS13B(NM_017890.4):c.1081G>A (p.D361N) - COX6C_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108G>C r.(?) p.(Asp370His) Unknown - VUS g.100133575G>C g.99121347G>C VPS13B(NM_017890.4):c.1108G>C (p.D370H) - VPS13B_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10-13 c.1206+5_1652-27dup r.spl? p.? Unknown - pathogenic g.100133678_100155175dup g.99121450_99142947dup DupEX9-12 (g.100202854_100224351dup) - VPS13B_000148 2 French siblings with COH1 (com-het) PubMed: El Chehadeh-Djebbar et al. 2011 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1206+33T>G r.(=) p.(=) Unknown - benign g.100133706T>G g.99121478T>G VPS13B(NM_181661.2):c.1239T>G (p.Y413*) - VPS13B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1206+33T>G r.(=) p.(=) Unknown - benign g.100133706T>G g.99121478T>G VPS13B(NM_181661.2):c.1239T>G (p.Y413*) - VPS13B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1206+33T>G r.(=) p.(=) Unknown - benign g.100133706T>G g.99121478T>G VPS13B(NM_181661.2):c.1239T>G (p.Y413*) - VPS13B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10-21 c.1207-2_2824+52509del r.(1207_2824del) p.(Leu403Valfs*11) Paternal (confirmed) - pathogenic g.100146858_100339991del g.99134630_99327763del 193 kb del: exons 9-19: chr8(hg18): 100216034...100409167; c.1207-2824del/p.L403fsX11 - VPS13B_000021 1 German COH1 family (com-het); Chr8(hg18):g.100216034_100409167del = (hg19) g.100146858_100339991del Rivera-Brugués 2011 - - SUMMARY record yes 0/1612 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1219C>T r.(1219c>u) p.(Gln407*) Both (homozygous) - pathogenic g.100146872C>T g.99134644C>T 1219C>T: Q407X - VPS13B_000022 1 Saudi Arabian COH1 family (hom) PubMed: Mochida et al. 2004 - - SUMMARY record yes 0/82 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1221delA r.(?) p.(Val408Leufs*11) Unknown - pathogenic g.100146874del g.99134646del c.1220delA (p.Q407fsX418) - VPS13B_000140 1 French COH1 patient (com-het) PubMed: El Chehadeh et al. 2010 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1225G>T r.(1225g>u) p.(Glu409*) Unknown - pathogenic g.100146878G>T g.99134650G>T c.1225g.t ( p.Glu409X ) - VPS13B_000023 1 Palestinian COH1 family (het) PubMed: Taban et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1248G>T r.(?) p.(Gln416His) Unknown - VUS g.100146901G>T g.99134673G>T VPS13B(NM_017890.4):c.1248G>T (p.Q416H) - COX6C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1248G>T r.(?) p.(Gln416His) Parent #1 - VUS g.100146901G>T g.99134673G>T - - COX6C_000009 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143024324 Germline - 5/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/+ 10 c.1269_1273delATTGT r.(1269_1273delauugu) p.(Cys425Glyfs*8) Unknown - pathogenic g.100146922_100146926del g.99134694_99134698del c.1269_1273delATTGT: p.Cys425GlyfsX8 (exon 9) - VPS13B_000024 1 Belgian/ Italian COH1 family (com-het) PubMed: Sheifert et al. 2008 - - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
-/. - c.1293T>G r.(?) p.(Thr431=) Unknown - benign g.100146946T>G g.99134718T>G VPS13B(NM_017890.4):c.1293T>G (p.T431=) - VPS13B_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1302+12A>G r.(=) p.(=) Unknown - likely benign g.100146967A>G g.99134739A>G VPS13B(NM_017890.4):c.1302+12A>G - VPS13B_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1303-9G>A r.(=) p.(=) Unknown - likely benign g.100147234G>A g.99135006G>A VPS13B(NM_017890.4):c.1303-9G>A - COX6C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303-9G>A r.(=) p.(=) Unknown - likely benign g.100147234G>A - VPS13B(NM_017890.4):c.1303-9G>A - COX6C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303-9G>A r.(=) p.(=) Unknown - likely benign g.100147234G>A - VPS13B(NM_017890.4):c.1303-9G>A - COX6C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1343G>A r.(?) p.(Gly448Glu) Unknown - VUS g.100147283G>A - VPS13B(NM_017890.4):c.1343G>A (p.G448E) - COX6C_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i_17i c.1426-32_2516-16303del r.(del) p.(Glu476Valfs*2) Paternal (confirmed) - pathogenic g.100147792_100270123del g.99135564_99257895del - - VPS13B_000167 - PubMed: Gilissen 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - COH-1, ID - PubMed: Gilissen 2014 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1440C>T r.(?) p.(Phe480=) Unknown - likely benign g.100147838C>T g.99135610C>T VPS13B(NM_017890.4):c.1440C>T (p.F480=) - COX6C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1443_1444del r.(?) p.(Ile481Metfs*3) Unknown - likely pathogenic g.100147841_100147842del - VPS13B(NM_017890.4):c.1443_1444delTT (p.I481Mfs*3) - COX6C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1504C>T r.1504c>u p.Arg502* Unknown - pathogenic g.100147902C>T g.99135674C>T c.1504C>T: p.Arg502X - VPS13B_000025 1 Brazilian COH1 family (het), 1 English/Scottish COH1 family (com-het) PubMed: Hennies et al. 2004, PubMed: Seifert et al. 2006 - rs180177354 SUMMARY record yes 0/75 CON - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1504C>T r.(?) p.(Arg502*) Parent #1 - likely pathogenic (recessive) g.100147902C>T g.99135674C>T - - VPS13B_000025 - PubMed: Tsangaris 2011 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - 0 - - 1 Johan den Dunnen
+/. - c.1512del r.(?) p.(Glu505Lysfs*23) Both (homozygous) - pathogenic (recessive) g.100147910del g.99135682del - - VPS13B_000386 - PubMed: Sanchez-Navarro 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - retinal disease RP-1430 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - 1 LOVD
?/. - c.1520A>G r.(?) p.(Asn507Ser) Unknown - VUS g.100147918A>G - VPS13B(NM_017890.4):c.1520A>G (p.N507S) - COX6C_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1528C>T r.(?) p.(Arg510Cys) Parent #1 - VUS g.100147926C>T g.99135698C>T - - VPS13B_000371 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139141291 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1552A>T r.(?) p.(Thr518Ser) Unknown - likely benign g.100147950A>T g.99135722A>T VPS13B(NM_015243.2):c.1552A>T (p.(Thr518Ser)), VPS13B(NM_017890.4):c.1552A>T (p.T518S) - COX6C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552A>T r.(?) p.(Thr518Ser) Unknown - likely benign g.100147950A>T g.99135722A>T VPS13B(NM_015243.2):c.1552A>T (p.(Thr518Ser)), VPS13B(NM_017890.4):c.1552A>T (p.T518S) - COX6C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559A>G r.(?) p.(His520Arg) Unknown - VUS g.100147957A>G g.99135729A>G VPS13B(NM_015243.2):c.1559A>G (p.(His520Arg)), VPS13B(NM_017890.4):c.1559A>G (p.H520R) - VPS13B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1559A>G r.(?) p.(His520Arg) Unknown - likely benign g.100147957A>G g.99135729A>G VPS13B(NM_015243.2):c.1559A>G (p.(His520Arg)), VPS13B(NM_017890.4):c.1559A>G (p.H520R) - VPS13B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1559A>G r.(?) p.(His520Arg) Unknown - VUS g.100147957A>G - VPS13B(NM_015243.2):c.1559A>G (p.(His520Arg)), VPS13B(NM_017890.4):c.1559A>G (p.H520R) - VPS13B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1563G>A r.[1563G>A, spl] p.[=, Lys521fs*20] Unknown - pathogenic g.100147961G>A g.99135733G>A c.1563G>A: p.Lys521fsX20, normal transcript in a very low level and abnormal transcript including more than 177 bp of the intron 11, resulting in a new reading frame of 19 codons followed by a stop co - VPS13B_000026 1 German/English COH1 family (com-het); Splice site mutation PubMed: Seifert et al. 2006 - rs180177355 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1563G>A r.(?) p.(Lys521=) Parent #1 - likely pathogenic g.100147961G>A g.99135733G>A VPS13B, variant 1: c.1563G>A/p.?, variant 2 :Deletion exon 46-50 - VPS13B_000026 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 107 PubMed: Weisschuh 2020 Filing key number: 49, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
-?/. - c.1639A>G r.(?) p.(Thr547Ala) Unknown - likely benign g.100148968A>G - VPS13B(NM_017890.4):c.1639A>G (p.T547A) - COX6C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1656C>A r.(?) p.(Ser552=) Unknown - benign g.100155206C>A - VPS13B(NM_017890.4):c.1656C>A (p.S552=) - COX6C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1700G>A r.(?) p.(Gly567Glu) Unknown - VUS g.100155250G>A g.99143022G>A VPS13B(NM_017890.4):c.1700G>A (p.G567E) - VPS13B_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 14 c.1734delT r.(?) p.(Ile579*) Unknown - pathogenic g.100155284del g.99143056del c.1733delT - VPS13B_000152 One COH1 patient (com-het) PubMed: El Chehadeh-Djebbar et al. 2013 - - SUMMARY record ? - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 14 c.1768G>A r.(1768g>a) p.(Ala590Thr) Paternal (confirmed) - likely pathogenic g.100155318G>A g.99143090G>A c.1768G>A: p.A590T (exon 13) - VPS13B_000027 1 Italian COH1 family (com-het) PubMed: Katzaki et al. 2007 - rs140601319 SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.1768G>A r.(?) p.(Ala590Thr) Unknown - VUS g.100155318G>A g.99143090G>A VPS13B(NM_017890.4):c.1768G>A (p.A590T) - VPS13B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1768G>A r.(?) p.(Ala590Thr) Parent #1 - VUS g.100155318G>A g.99143090G>A - - VPS13B_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140601319 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1768G>A r.(?) p.(Ala590Thr) Unknown - likely benign g.100155318G>A - VPS13B(NM_017890.4):c.1768G>A (p.A590T) - VPS13B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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