Unique variants in the VPS13A gene

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

239 entries on 3 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 - c.44T>A r.(?) p.(Leu15Ter) - pathogenic g.79792664T>A g.77177748T>A - - VPS13A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.101-7T>C r.(=) p.(=) - benign g.79814854T>C g.77199938T>C VPS13A(NM_033305.2):c.101-7T>C - VPS13A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.126A>G r.(?) p.(Gln42=) - likely benign g.79814886A>G g.77199970A>G VPS13A(NM_033305.2):c.126A>G (p.Q42=) - VPS13A_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.145-16T>G r.(=) p.(=) - VUS g.79816265T>G g.77201349T>G VPS13A(NM_033305.2):c.145-16T>G - VPS13A_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.188-16dup r.(=) p.(=) - benign g.79820213dup g.77205297dup VPS13A(NM_033305.2):c.188-16_188-15insT - VPS13A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.188-15C>T r.(=) p.(=) - likely benign g.79820214C>T g.77205298C>T VPS13A(NM_033305.2):c.188-15C>T - VPS13A_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.220C>A r.(?) p.(Leu74Ile) - VUS g.79820261C>A g.77205345C>A VPS13A(NM_033305.2):c.220C>A (p.L74I) - VPS13A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.228T>C r.(?) p.(Thr76=) - likely benign g.79820269T>C g.77205353T>C VPS13A(NM_033305.2):c.228T>C (p.T76=) - VPS13A_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.237del r.(?) p.(Glu80Lysfs*11) - pathogenic (recessive) g.79820278del g.77205362del 237delT - VPS13A_000223 - PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.269T>A r.(?) p.(Ile90Lys) - pathogenic (recessive) g.79820310T>A g.77205394T>A - - VPS13A_000214 variant not found in 100 control chromosomes PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.283+1G>A r.spl? p.? ACMG likely pathogenic (recessive) g.79820325G>A - - - VPS13A_000246 ACMG class 4, PVS1, PM2 - - - Germline ? - - - - Andreas Laner
-?/. 1 - c.283+20del r.(=) p.(=) - likely benign g.79820344del g.77205428del VPS13A(NM_033305.2):c.283+20delA - VPS13A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.284-119G>A r.(?) p.(=) - VUS g.79820775G>A g.77205859G>A - - VPS13A_000060 c.284-119G>A - - - Germline - - - - - Andreas Laner
-?/. 2 - c.385+6_385+15del r.(=) p.(=) - likely benign g.79821001_79821010del g.77206085_77206094del VPS13A(NM_033305.2):c.385+6_385+15delGAAAACAGTA - VPS13A_000067, VPS13A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.476A>G r.(?) p.(His159Arg) - VUS g.79824429A>G g.77209513A>G VPS13A(NM_033305.2):c.476A>G (p.H159R) - VPS13A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.505C>T r.(?) p.(Arg169Trp) - likely benign g.79825541C>T g.77210625C>T VPS13A(NM_033305.2):c.505C>T (p.R169W) - VPS13A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.516G>A r.(?) p.(Pro172=) - likely benign g.79825552G>A g.77210636G>A VPS13A(NM_033305.2):c.516G>A (p.P172=) - VPS13A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.522A>G r.(?) p.(Ser174=) - likely benign g.79825558A>G g.77210642A>G VPS13A(NM_033305.2):c.522A>G (p.S174=) - VPS13A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.550A>G r.(?) p.(Met184Val) - likely benign g.79825586A>G g.77210670A>G VPS13A(NM_033305.2):c.550A>G (p.M184V) - VPS13A_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.610C>T r.(?) p.(Arg204Cys) - VUS g.79827939C>T g.77213023C>T VPS13A(NM_033305.2):c.610C>T (p.R204C) - VPS13A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.611G>A r.(?) p.(Arg204His) - likely benign, VUS g.79827940G>A g.77213024G>A VPS13A(NM_033305.2):c.611G>A (p.R204H) - VPS13A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.615+20G>C r.(=) p.(=) - benign g.79827964G>C g.77213048G>C VPS13A(NM_033305.2):c.615+20G>C - VPS13A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 9 c.622C>T r.(?) p.(Arg208*) - pathogenic (recessive) g.79828156C>T g.77213240C>T - - VPS13A_000209 - PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.682del r.(?) p.(Tyr228MetfsTer8) - VUS g.79828216del g.77213300del VPS13A(NM_033305.2):c.682delT (p.Y228Mfs*8) - VPS13A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.775A>G r.(?) p.(Asn259Asp) - likely benign g.79834890A>G g.77219974A>G VPS13A(NM_033305.2):c.775A>G (p.N259D) - VPS13A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/. 1 - c.799C>T r.(?) p.(Arg267*) - pathogenic (recessive) g.79834914C>T g.77219998C>T - - VPS13A_000061 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.883-91T>A r.(?) p.(=) - benign g.79835102T>A g.77220186T>A - - VPS13A_000059 - - - rs3802498 Germline - - - - - Andreas Laner
-/. 3 - c.883-16A>C r.(=), r.(?) p.(=) - benign g.79835177A>C g.77220261A>C VPS13A(NM_033305.2):c.883-16A>C - VPS13A_000029 VKGL data sharing initiative Nederland - - rs72742584 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_VUmc
-?/. 1 - c.981C>T r.(?) p.(Ala327=) - likely benign g.79835291C>T g.77220375C>T VPS13A(NM_033305.2):c.981C>T (p.A327=) - VPS13A_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.989+27_989+28del r.(=) p.(=) - likely benign g.79835326_79835327del g.77220410_77220411del VPS13A(NM_033305.2):c.989+27_989+28delTT - VPS13A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.989+28del r.(=) p.(=) - benign g.79835327del g.77220411del VPS13A(NM_033305.2):c.989+28delT - VPS13A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.989+28dup r.(=) p.(=) - benign g.79835327dup g.77220411dup VPS13A(NM_033305.2):c.989+28dupT - VPS13A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.1011C>T r.(?) p.(Gly337=) - likely benign g.79836122C>T g.77221206C>T VPS13A(NM_033305.2):c.1011C>T (p.G337=) - VPS13A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1020A>G r.(?) p.(Glu340=) - likely benign g.79836131A>G g.77221215A>G VPS13A(NM_033305.2):c.1020A>G (p.E340=) - VPS13A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1094A>G r.(?) p.(Tyr365Cys) - VUS g.79836205A>G - VPS13A(NM_033305.2):c.1094A>G (p.Y365C) - VPS13A_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1115del r.(?) p.(Lys372Serfs*2) - pathogenic (recessive) g.79836226del g.77221310del 1115delA - VPS13A_000220 - PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1170A>G r.(?) p.(Glu390=) - likely benign g.79840850A>G g.77225934A>G VPS13A(NM_033305.2):c.1170A>G (p.E390=) - VPS13A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1224+139T>C r.(?) p.(=) - benign g.79841043T>C g.77226127T>C - - VPS13A_000030 - - - rs55943354 Germline - - - - - Andreas Laner
?/. 1 - c.1225-94A>G r.(?) p.(=) - VUS g.79841288A>G g.77226372A>G - - VPS13A_000031 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 2 - c.1303T>C r.(?) p.(Trp435Arg) - likely benign, VUS g.79841460T>C g.77226544T>C VPS13A(NM_033305.2):c.1303T>C (p.W435R) - VPS13A_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1358-29A>G r.(?) p.(=) - VUS g.79842278A>G g.77227362A>G - - VPS13A_000032 - - - rs139845549 Germline - - - - - Andreas Laner
-?/. 1 - c.1358-4G>A r.spl? p.? - likely benign g.79842303G>A g.77227387G>A VPS13A(NM_033305.2):c.1358-4G>A - VPS13A_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1528C>T r.(?) p.(Leu510=) - likely benign g.79843113C>T g.77228197C>T VPS13A(NM_033305.2):c.1528C>T (p.L510=) - VPS13A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 17 c.1592del r.(?) p.(Ile531Lysfs*7) - pathogenic (recessive) g.79843177del g.77228261del 1592delT - VPS13A_000213 - PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1596-8del r.(=) p.(=) - benign g.79852910del g.77237994del VPS13A(NM_033305.2):c.1596-8delT - VPS13A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1596-8dup r.(=) p.(=) - benign g.79852910dup g.77237994dup VPS13A(NM_033305.2):c.1596-8_1596-7insT - VPS13A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.1758T>C r.(?) p.(Ala586=) - likely benign g.79853080T>C g.77238164T>C VPS13A(NM_033305.2):c.1758T>C (p.A586=) - VPS13A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 2 - c.1817G>A r.(?) p.(Arg606Lys) - likely benign g.79853219G>A g.77238303G>A VPS13A(NM_033305.2):c.1817G>A (p.R606K) - VPS13A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1882C>T r.(?) p.(Arg628Cys) - VUS g.79853284C>T g.77238368C>T VPS13A(NM_033305.2):c.1882C>T (p.R628C) - VPS13A_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1901-156T>C r.(?) p.(=) - VUS g.79862019T>C g.77247103T>C - - VPS13A_000005 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.2007T>G r.(?) p.(Asn669Lys) - VUS g.79862281T>G g.77247365T>G VPS13A(NM_033305.2):c.2007T>G (p.N669K) - VPS13A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.2037+8C>A r.(=) p.(=) - benign, likely benign g.79862319C>A g.77247403C>A VPS13A(NM_033305.2):c.2037+8C>A - VPS13A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.2037+79A>G r.(?) p.(=) - benign g.79862390A>G g.77247474A>G - - VPS13A_000006 - - - rs78083157 Germline - - - - - Andreas Laner
-/. 1 - c.2037+191T>C r.(?) p.(=) - benign g.79862502T>C g.77247586T>C - - VPS13A_000007 - - - rs10115162 Germline - - - - - Andreas Laner
-?/. 1 - c.2124A>G r.(?) p.(Ser708=) - likely benign g.79865099A>G - VPS13A(NM_033305.2):c.2124A>G (p.S708=) - VPS13A_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2140A>C r.(?) p.(Thr714Pro) - VUS g.79865115A>C g.77250199A>C VPS13A(NM_033305.2):c.2140A>C (p.T714P) - VPS13A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2170+13T>C r.(=) p.(=) - likely benign g.79865158T>C g.77250242T>C VPS13A(NM_033305.2):c.2170+13T>C - VPS13A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.2170+42G>A r.(?) p.(=) - benign g.79865187G>A g.77250271G>A - - VPS13A_000008 - - - rs2021998 Germline - - - - - Andreas Laner
-/. 1 - c.2170+68T>G r.(?) p.(=) - benign g.79865213T>G g.77250297T>G - - VPS13A_000009 - - - rs116148204 Germline - - - - - Andreas Laner
?/. 1 - c.2189C>T r.(?) p.(Ala730Val) - VUS g.79867169C>T g.77252253C>T VPS13A(NM_033305.2):c.2189C>T (p.A730V) - VPS13A_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2201G>A r.(?) p.(Ser734Asn) - likely benign g.79867181G>A g.77252265G>A VPS13A(NM_033305.2):c.2201G>A (p.S734N) - VPS13A_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.2250_2253del r.(?) p.(Ser751ArgfsTer8) - pathogenic g.79867230_79867233del g.77252314_77252317del VPS13A(NM_033305.2):c.2250_2253delGTCT (p.S751Rfs*8) - VPS13A_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2288+20T>C r.(=), r.(?) p.(=) - benign g.79867288T>C g.77252372T>C VPS13A(NM_033305.2):c.2288+20T>C - VPS13A_000010 VKGL data sharing initiative Nederland - - rs12335955 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_VUmc
-?/. 1 - c.2289-16del r.(=) p.(=) - likely benign g.79874986del g.77260070del VPS13A(NM_033305.2):c.2289-16delT - VPS13A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2327G>A r.(?) p.(Arg776Gln) - likely benign g.79875040G>A g.77260124G>A VPS13A(NM_033305.2):c.2327G>A (p.R776Q) - VPS13A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2369A>G r.(?) p.(Glu790Gly) - likely benign g.79875082A>G g.77260166A>G VPS13A(NM_033305.2):c.2369A>G (p.E790G) - VPS13A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2391A>G r.(?) p.(Pro797=) - likely benign g.79875104A>G g.77260188A>G VPS13A(NM_033305.2):c.2391A>G (p.P797=) - VPS13A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2428-181A>G r.(?) p.(=) - benign g.79888015A>G g.77273099A>G - - VPS13A_000011 - - - rs7244218 Germline - - - - - Andreas Laner
-?/. 1 - c.2454A>G r.(?) p.(Thr818=) - likely benign g.79888222A>G g.77273306A>G VPS13A(NM_033305.2):c.2454A>G (p.T818=) - VPS13A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2496A>T r.(?) p.(Pro832=) - likely benign g.79888264A>T g.77273348A>T VPS13A(NM_033305.2):c.2496A>T (p.P832=) - VPS13A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2500G>C r.(?) p.(Val834Leu) - likely benign g.79888268G>C g.77273352G>C VPS13A(NM_033305.2):c.2500G>C (p.V834L) - VPS13A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2667+11C>T r.(=) p.(=) - likely benign g.79890579C>T g.77275663C>T VPS13A(NM_033305.2):c.2667+11C>T - VPS13A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.2667+12G>A r.(=) p.(=) - likely benign g.79890580G>A g.77275664G>A VPS13A(NM_033305.2):c.2667+12G>A - VPS13A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2693T>C r.(?) p.(Val898Ala) - benign g.79891006T>C g.77276090T>C VPS13A(NM_033305.2):c.2693T>C (p.V898A) - VPS13A_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2718A>G r.(?) p.(Val906=) - benign g.79891031A>G g.77276115A>G VPS13A(NM_033305.2):c.2718A>G (p.V906=) - VPS13A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2814A>G r.(?) p.(Pro938=) - likely benign g.79891127A>G g.77276211A>G VPS13A(NM_033305.2):c.2814A>G (p.P938=) - VPS13A_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.2825-15A>T r.(=) p.(=) - likely benign g.79895060A>T g.77280144A>T VPS13A(NM_033305.2):c.2825-15A>T - VPS13A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2833_2834del r.(?) p.(Lys945Glufs*11) - pathogenic (recessive) g.79895083_79895084del g.77280167_77280168del 2833–2834delAA - VPS13A_000222 no variant 2nd allele identified PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2904+247del r.(?) p.(=) - VUS g.79895401del g.77280485del - - VPS13A_000012 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.2910A>G r.(?) p.(Glu970=) - likely benign g.79896788A>G g.77281872A>G VPS13A(NM_033305.2):c.2910A>G (p.E970=) - VPS13A_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2964+13A>G r.(=) p.(=) - benign g.79896855A>G g.77281939A>G VPS13A(NM_033305.2):c.2964+13A>G - VPS13A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.2989del r.(?) p.(His997Ilefs*8) - pathogenic (recessive) g.79897061del g.77282145del - - VPS13A_000013 - - - - Germline - - - - - Andreas Laner
-/. 3 - c.3045G>A r.(?) p.(=), p.(Pro1015=) - benign g.79897117G>A g.77282201G>A VPS13A(NM_033305.2):c.3045G>A (p.P1015=) - VPS13A_000014 VKGL data sharing initiative Nederland - - rs11145366 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.3083A>G r.(?) p.(Glu1028Gly) - likely benign g.79897155A>G g.77282239A>G VPS13A(NM_033305.2):c.3083A>G (p.E1028G) - VPS13A_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.3108T>C r.(?) p.(Ile1036=) - benign g.79897180T>C g.77282264T>C VPS13A(NM_033305.2):c.3108T>C (p.I1036=) - VPS13A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.3119-5del r.spl? p.? - likely benign g.79898266del g.77283350del VPS13A(NM_033305.2):c.3119-5delT - VPS13A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3193A>G r.(?) p.(Ile1065Val) - VUS g.79898345A>G g.77283429A>G VPS13A(NM_033305.2):c.3193A>G (p.I1065V) - VPS13A_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3356G>A r.(?) p.(Gly1119Glu) - likely benign, VUS g.79908273G>A g.77293357G>A VPS13A(NM_033305.2):c.3356G>A (p.G1119E) - VPS13A_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.3502A>G r.(?) p.(Ile1168Val) - likely benign g.79908419A>G g.77293503A>G VPS13A(NM_033305.2):c.3502A>G (p.I1168V) - VPS13A_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.3507+16_3507+20del r.(=) p.(=) - likely benign g.79908440_79908444del g.77293524_77293528del VPS13A(NM_033305.2):c.3507+16_3507+20delAATTA - VPS13A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.3508-240T>C r.(?) p.(=) - benign g.79910218T>C g.77295302T>C - - VPS13A_000015 - - - rs1317306 Germline - - - - - Andreas Laner
-/. 1 - c.3508-51A>G r.(?) p.(=) - benign g.79910407A>G g.77295491A>G - - VPS13A_000016 - - - rs1317305 Germline - - - - - Andreas Laner
-/. 1 - c.3508-38A>G r.(?) p.(=) - benign g.79910420A>G g.77295504A>G - - VPS13A_000017 - - - rs41289963 Germline - - - - - Andreas Laner
-?/. 1 - c.3514A>G r.(?) p.(Ile1172Val) - likely benign g.79910464A>G g.77295548A>G VPS13A(NM_033305.2):c.3514A>G (p.I1172V) - VPS13A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3556_3557dup r.(?) p.(Val1187Leufs*12) - pathogenic (recessive) g.79910506_79910507dup g.77295590_77295591dup 3556–3557dupAC - VPS13A_000216 - PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.3600C>T r.(?) p.(Leu1200=) - likely benign g.79910550C>T g.77295634C>T VPS13A(NM_033305.2):c.3600C>T (p.L1200=) - VPS13A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.3645C>A r.(?) p.(Ala1215=) - benign, likely benign g.79910595C>A g.77295679C>A VPS13A(NM_033305.2):c.3645C>A (p.A1215=) - VPS13A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.3812+317A>G r.(?) p.(=) - benign g.79911079A>G g.77296163A>G - - VPS13A_000018 - - - rs72744282 Germline - - - - - Andreas Laner
-?/., ?/. 2 - c.3813-15T>C r.(=), r.(?) p.(=) - likely benign, VUS g.79917816T>C g.77302900T>C VPS13A(NM_033305.2):c.3813-15T>C - VPS13A_000019 VKGL data sharing initiative Nederland - - rs145835861 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_VUmc
-?/. 1 - c.3904G>A r.(?) p.(Glu1302Lys) - likely benign g.79917922G>A - VPS13A(NM_033305.2):c.3904G>A (p.E1302K) - VPS13A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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