Unique variants in the VPS13B gene

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

435 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ 1 01-09a c.(?-12444)_996+?del r.? p.? - pathogenic g.(?_100013161)_(100133463_?)del - 1 more item - VPS13B_000006 1 COH1 family (hom) PubMed: Balikova et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.-111_(762+1_763-1){0} r.0? p.0? - likely pathogenic (recessive) g.(?_100025494)_(100123508_100127927)del g.(?_99013266)_(99111280_99115699)del ex1-6 deletion - VPS13B_000380 - PubMed: Taylor 2017 - - Germline - - - - - LOVD
+?/. 2 - c.? r.? p.? - likely pathogenic g.? - del ex17-19, del ex8 - RP1_000000 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/+ 1 01-20 c.-79752_2516-7756del r.? p? - pathogenic g.99945853_100278670del g.98933625_99266442del 315 kb del: exons 1-17: chr8(hg18):100015029...100347846; c.1-2515del - VPS13B_000008 1 more item Rivera-Brugués 2011 - - SUMMARY record yes 0/1612 CON - - - Anne Polvi
+/+ 1 01-09a c.-23990_1207-5855del r.? p.? - 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 - - - - Anne Polvi
+/. 1 2 c.3G>A r.(?) p.0? - pathogenic g.100026019G>A g.99013791G>A NM_152564: c.G3A; p.M1I - VPS13B_000172 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.8A>T r.(?) p.(Glu3Val) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 02 c.22_23delCCinsA r.22_23delccinsa p.Pro8Lysfs*3 - 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 - - - - Anne Polvi
?/. 1 - c.148-8608G>C - p.(=) - VUS g.100042043G>C g.99029815G>C - - VPS13B_000004 - - - - Germline - - - - - Yu Sun
+/+, +/. 2 3 c.219_220delinsT r.(219_220delinsu) p.(Lys73Asnfs*8) - pathogenic (recessive) g.100050722_100050723delinsT g.99038494_99038495delinsT 219_20delACinsT - VPS13B_000010 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/+ 1 04-17 c.291+6437_2334-3424del r.? p.? - 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 - - - - Anne Polvi
?/. 1 - c.291+28132C>A r.(?) p.(=) - association g.100078926C>A g.99066698C>A - - VPS13B_000378 associated with facial morphology (nose) Huang 2020 (submitted) - rs11988731 Germline - - - - - Yin Huang
-?/. 1 - c.292-3T>C r.spl? p.? - likely benign g.100108537T>C - VPS13B(NM_017890.4):c.292-3T>C - COX6C_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 2 3i_13i c.(291+1_292-1)_(1843+1_1844-1)dup r.(292_1843dup), r.? p.? - pathogenic (recessive) g.(100050795_100108539)_(100155394_100160068)dup - dup ex4-13 - VPS13B_000013 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/+, +/. 3 3i_16i c.(291+1_292-1)_(2333+1_2334-1)del r.(292_2333del), r.? p.(Asp99Glnfs*9), p.? - pathogenic (recessive) g.(100050795_100108539)_(100182392_100205103)del - del ex4-16 - VPS13B_000015 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.358A>G r.(?) p.(Ile120Val) - 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 - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 4 c.401_402insT r.(404dupu), r.(?) p.(Leu135Phefs*11), p.(Pro136Thrfs*10) - pathogenic (recessive) g.100108649_100108650insT g.99096421_99096422insT 402insT - VPS13B_000014 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/. 1 4i c.412+1G>T r.spl p.? - pathogenic g.100108661G>T g.99096433G>T NM_152564: c.412+1G>T - VPS13B_000173 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.412+3161_580+208del r.(?) p.(Gly138_Ser193del) - pathogenic g.100111821_100115556del g.99099593_99103328del - - VPS13B_000169 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/+?, +/. 3 4i c.413-2A>G r.spl, r.spl? p.?, p? - likely pathogenic (recessive), pathogenic (recessive) g.100115179A>G g.99102951A>G IVS4-2A>G - VPS13B_000012 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/+ 1 06-15 c.413-?_2013+?del r.(413_2013del) p.(Gly138Glufs*4) - 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 - - - Anne Polvi
+/+ 1 06 c.436C>T r.(?) p.(Arg146*) - 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 - - - - Anne Polvi
+/+ 1 06 c.467_470delATAA r.467_470delauaa p.Asn156Ilefs*4 - 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 - - - - Anne Polvi
+?/. 1 - c.468_471del r.(?) p.(Asn157Serfs*3) - 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 ? - - - - LOVD
+/+ 1 06 c.478_481delCTAA r.(?) p.(Leu160Asnfs*21) - 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 - - - - Anne Polvi
?/. 1 - c.505C>A r.(?) p.(Leu169Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.560G>A r.(?) p.(Arg187His) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.565T>C r.(?) p.(Phe189Leu) - 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 - - - - - VKGL-NL_Rotterdam
+/+, +/. 6 5i_16i c.(580+1_581-1)_(2333+1_2334-1)del r.(581_2333del), r.? p.(Ala194Glyfs*9), p.? - pathogenic (recessive) g.(100115349_100123325)_(100182392_100205103)del - del ex6-16 - VPS13B_000017 deletion on shared haplotype, 1 more item PubMed: Bugiani 2008, PubMed: Parri 2010, PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
?/. 1 - c.584C>G r.(?) p.(Thr195Ser) - VUS g.100123329C>G - VPS13B(NM_017890.4):c.584C>G (p.T195S) - COX6C_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 07 c.626_627delCA r.(626_627delca) p.(Thr209Serfs*4) - 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 - - - Anne Polvi
-?/. 1 - c.690C>T r.(?) p.(Tyr230=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.750A>G r.(?) p.(Pro250=) - likely benign g.100123495A>G - VPS13B(NM_017890.4):c.750A>G (p.P250=) - COX6C_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.885C>T r.(?) p.(Gly295=) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 08 c.916_917delGA r.(916_917delga) p.(Asp306Tyrfs*9) - 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 - - - Anne Polvi
-?/. 1 - c.921G>A r.(?) p.(Met307Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.983A>G r.(?) p.(His328Arg) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/+ 1 9a c.1006C>T r.(?) p.(Gln336*) - 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 - - - - Anne Polvi
-?/. 1 - c.1041A>G r.(?) p.(Ser347=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1081G>A r.(?) p.(Asp361Asn) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1108G>C r.(?) p.(Asp370His) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 10-13 c.1206+5_1652-27dup r.spl? p.? - 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 - - - - Anne Polvi
-/. 3 - c.1206+33T>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+ 1 10-21 c.1207-2_2824+52509del r.(1207_2824del) p.(Leu403Valfs*11) - 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 more item Rivera-Brugués 2011 - - SUMMARY record yes 0/1612 CON - - - Anne Polvi
+/+ 1 10 c.1219C>T r.(1219c>u) p.(Gln407*) - 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 - - - Anne Polvi
+/+ 1 10 c.1221delA r.(?) p.(Val408Leufs*11) - 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 - - - - Anne Polvi
+/+ 1 10 c.1225G>T r.(1225g>u) p.(Glu409*) - 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 - - - - Anne Polvi
?/. 2 - c.1248G>T r.(?) p.(Gln416His) - VUS g.100146901G>T g.99134673G>T VPS13B(NM_017890.4):c.1248G>T (p.Q416H) - COX6C_000009 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs143024324 CLASSIFICATION record, Germline - 5/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+/+ 1 10 c.1269_1273delATTGT r.(1269_1273delauugu) p.(Cys425Glyfs*8) - 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 - - - Anne Polvi
-/. 1 - c.1293T>G r.(?) p.(Thr431=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1302+12A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.1303-9G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.1343G>A r.(?) p.(Gly448Glu) - VUS g.100147283G>A - VPS13B(NM_017890.4):c.1343G>A (p.G448E) - COX6C_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10i_17i c.1426-32_2516-16303del r.(del) p.(Glu476Valfs*2) - pathogenic g.100147792_100270123del g.99135564_99257895del - - VPS13B_000167 - PubMed: Gilissen 2014 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1440C>T r.(?) p.(Phe480=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1443_1444del r.(?) p.(Ile481Metfs*3) - likely pathogenic g.100147841_100147842del - VPS13B(NM_017890.4):c.1443_1444delTT (p.I481Mfs*3) - COX6C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +?/. 2 12 c.1504C>T r.(?), r.1504c>u p.(Arg502*), p.Arg502* - likely pathogenic (recessive), 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, PubMed: Tsangaris 2011 - rs180177354 Germline, SUMMARY record yes 0/75 CON - - - Johan den Dunnen, Anne Polvi
+/. 1 - c.1512del r.(?) p.(Glu505Lysfs*23) - pathogenic (recessive) g.100147910del g.99135682del - - VPS13B_000386 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - LOVD
?/. 1 - c.1520A>G r.(?) p.(Asn507Ser) - VUS g.100147918A>G - VPS13B(NM_017890.4):c.1520A>G (p.N507S) - COX6C_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1528C>T r.(?) p.(Arg510Cys) - 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 - - - Mohammed Faruq
-?/. 2 - c.1552A>T r.(?) p.(Thr518Ser) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1559A>G r.(?) p.(His520Arg) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+ 1 12 c.1563G>A r.[1563G>A, spl] p.[=, Lys521fs*20] - pathogenic g.100147961G>A g.99135733G>A 1 more item - VPS13B_000026 1 German/English COH1 family (com-het); Splice site mutation PubMed: Seifert et al. 2006 - rs180177355 SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.1639A>G r.(?) p.(Thr547Ala) - likely benign g.100148968A>G - VPS13B(NM_017890.4):c.1639A>G (p.T547A) - COX6C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1656C>A r.(?) p.(Ser552=) - benign g.100155206C>A - VPS13B(NM_017890.4):c.1656C>A (p.S552=) - COX6C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1700G>A r.(?) p.(Gly567Glu) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 14 c.1734delT r.(?) p.(Ile579*) - pathogenic g.100155284del g.99143056del c.1733delT - VPS13B_000152 One COH1 patient (com-het) PubMed: El Chehadeh-Djebbar et al. 2013 - - SUMMARY record ? - - - - Anne Polvi
+?/+?, -?/., ?/. 4 14 c.1768G>A r.(1768g>a), r.(?) p.(Ala590Thr) - likely benign, likely pathogenic, VUS g.100155318G>A g.99143090G>A c.1768G>A: p.A590T (exon 13), VPS13B(NM_017890.4):c.1768G>A (p.A590T) - VPS13B_000027 1 heterozygous, no homozygous; Clinindb (India), 1 Italian COH1 family (com-het), 1 more item PubMed: Katzaki et al. 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs140601319 CLASSIFICATION record, Germline, SUMMARY record yes 0/50 CON, 1/2795 individuals - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
-?/. 3 - c.1832G>A r.(?) p.(Arg611Lys) - likely benign g.100155382G>A g.99143154G>A VPS13B(NM_017890.4):c.1832G>A (p.R611K) - VPS13B_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1843+10T>C r.(=) p.(=) - likely benign g.100155403T>C - VPS13B(NM_017890.4):c.1843+10T>C - VPS13B_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1843+16A>G r.(=) p.(=) - benign g.100155409A>G - VPS13B(NM_017890.4):c.1843+16A>G - COX6C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1864A>G r.(?) p.(Thr622Ala) - VUS g.100160089A>G - VPS13B(NM_017890.4):c.1864A>G (p.T622A) - COX6C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1888G>A r.(?) p.(Ala630Thr) - VUS g.100160113G>A g.99147885G>A VPS13B(NM_017890.4):c.1888G>A (p.A630T) - COX6C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1915C>T r.(?) p.(Arg639*) - likely pathogenic g.100160140C>T g.99147912C>T - - VPS13B_000387 - PubMed: Stone 2017 - - Germline - - - - - LOVD
-?/. 1 - c.1981G>A r.(?) p.(Asp661Asn) - likely benign g.100160206G>A - VPS13B(NM_017890.4):c.1981G>A (p.D661N) - COX6C_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/+? 2 14i c.2014-2A>G r.spl, r.spl? p.?, p? - likely pathogenic (recessive), pathogenic (recessive) g.100168775A>G g.99156547A>G IVS14-2A>G - VPS13B_000028 1 COH1 family (com-het) PubMed: Parri 2010 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
-/. 1 - c.2016C>T r.(?) p.(Asn672=) - benign g.100168779C>T - VPS13B(NM_017890.4):c.2016C>T (p.N672=) - COX6C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2018C>T r.(?) p.(Ser673Leu) - VUS g.100168781C>T g.99156553C>T VPS13B(NM_017890.4):c.2018C>T (p.S673L) - COX6C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 16 c.2047delC r.(2047delc) p.(Gln683Serfs*62) - pathogenic g.100168810del g.99156582del c.2047delC: p.Q721fsX23 (exon 15) - VPS13B_000029 1 Italian COH1 family (com-het) PubMed: Katzaki et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.2051C>T r.(?) p.(Ser684Phe) - VUS g.100168814C>T g.99156586C>T VPS13B(NM_017890.4):c.2051C>T (p.S684F) - VPS13B_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 16 c.2074C>T r.(2074c>u), r.(?) p.(Arg692*) - pathogenic g.100168837C>T g.99156609C>T c.2193C>T: R692X (exon 15) - VPS13B_000030 1 Belgian COH1 patient (com-het) and 2 French COH1 families (com-het), 1 more item PubMed: Kolehmainen et al. 2003, PubMed: Seifert et al. 2006; PubMed: El Chehadeh et al. 2010, 1 more item - rs180177356 Germline, SUMMARY record yes 2/2795 individuals - - - Anne Polvi, Mohammed Faruq
+/+ 1 17 c.2209-?_2333+?del r.? p.? - pathogenic g.(?_100168777)_(100168971_?)del - 1 more item - VPS13B_000031 2 Italian COH1 families (com-het) PubMed: Katzaki et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.2248A>G r.(?) p.(Ser750Gly) - likely benign g.100182306A>G - VPS13B(NM_017890.4):c.2248A>G (p.S750G) - COX6C_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2275G>C r.(?) p.(Val759Leu) - benign g.100182333G>C g.99170105G>C VPS13B(NM_017890.4):c.2275G>C (p.V759L) - COX6C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2282C>A r.(?) p.(Pro761His) - VUS g.100182340C>A g.99170112C>A VPS13B(NM_017890.4):c.2282C>A (p.P761H) - VPS13B_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2333+12A>T r.(=) p.(=) - benign g.100182403A>T - VPS13B(NM_017890.4):c.2333+12A>T - VPS13B_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 18-23 c.2334-8502_3082+9882del r.? p.? - pathogenic g.100196602_100413814del g.99184374_99401586del Del 17-21: 100265778 - 100482990 bp (hg18) - VPS13B_000032 1 COH1 family (com-het); Deletion of exons 18-23 PubMed: Balikova et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 2 - c.2356A>G r.(?) p.(Ile786Val) - likely benign g.100205126A>G - VPS13B(NM_017890.4):c.2356A>G (p.I786V) - COX6C_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.2451T>C r.(?) p.(His817=) - benign g.100205221T>C g.99192993T>C VPS13B(NM_017890.4):c.2451T>C (p.H817=) - COX6C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+?, ?/. 2 18 c.2470T>G r.(?) p.(Ser824Ala) - likely pathogenic, VUS g.100205240T>G g.99193012T>G VPS13B(NM_017890.4):c.2470T>G (p.S824A) - VPS13B_000156 1 patient (consanguineous parents) with autism and COH1 like features (hom), 1 more item PubMed: Yu al. 2013 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam
?/. 2 - c.2471C>T r.(?) p.(Ser824Phe) - VUS g.100205241C>T g.99193013C>T VPS13B(NM_015243.2):c.2471C>T (p.(Ser824Phe)), VPS13B(NM_017890.4):c.2471C>T (p.S824F) - VPS13B_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 2 - c.2472C>T r.(?) p.(Ser824=) - benign, likely benign g.100205242C>T - VPS13B(NM_017890.4):c.2472C>T (p.S824=) - COX6C_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 4 - c.2485G>A r.(?) p.(Ala829Thr) - benign, likely benign g.100205255G>A g.99193027G>A VPS13B(NM_015243.2):c.2485G>A (p.(Ala829Thr)), VPS13B(NM_017890.4):c.2485G>A (p.A829T) - VPS13B_000205 26 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61753721 CLASSIFICATION record, Germline - 26/2791 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.2515+16580C>G r.(=) p.(=) - VUS g.100221865C>G - VPS13B(NM_015243.2):c.2561C>G (p.A854G) - VPS13B_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2515+16581C>A r.(=) p.(=) - benign g.100221866C>A - VPS13B(NM_015243.2):c.2562C>A (p.A854=) - VPS13B_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 20-21 c.2516-9218_2824+20330del r.? p.? - pathogenic g.100277209_100307813del g.99264981_99295585del Del 18-19: 100346384 - 100376988 bp (hg18) - VPS13B_000035 1 COH1 family (com-het); Deletion of exons 20-21 PubMed: Balikova et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 20-23 c.2516-?_3082+?del r.(2516_3082del) p.(Gly839_Thr1027del) - pathogenic g.(?_100286426)_(100403932_?)del - c.2516_3083del: p.Gly839_Thr1027del (Exons 18–21) - VPS13B_000033 1 German COH1 family (com-het); Deletion of exons 20-23 PubMed: Seifert et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 20-31 c.2516-?_4299+?del r.(2516_4299del) p.(Gly839Aspfs*37) - pathogenic g.(?_100286426)_(100520139_?)del - c.2516_4299del: p.Gly839fsX19 (Exons 18–28) - VPS13B_000034 1 Polish COH1 family (com-het); Deletion of exons 20-31 PubMed: Seifert et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.2589A>G r.(?) p.(Thr863=) - likely benign g.100286499A>G - VPS13B(NM_017890.4):c.2589A>G (p.T863=) - COX6C_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 2 - c.2591C>A r.(?) p.(Ser864*) - likely pathogenic (recessive), pathogenic g.100286501C>A g.99274273C>A 8:100286501C>A ENST00000358544.2:c.2591C>A (Ser864Ter) - VPS13B_000372 1 heterozygous, no homozygous; Clinindb (India) PubMed: Carss 2017, PubMed: Narang 2020, Journal: Narang 2020 - rs140936527 Germline - 1/2794 individuals - - - Mohammed Faruq
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