Unique variants in the VPS13C gene

Information The variants shown are described using the NM_020821.2 transcript reference sequence.

106 entries on 2 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.242C>T r.(?) p.(Ala81Val) - VUS g.62327197G>A - VPS13C(NM_001018088.2):c.242C>T (p.A81V) - VPS13C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.243G>A r.(?) p.(Ala81=) - likely benign g.62327196C>T g.62034997C>T VPS13C(NM_001018088.2):c.243G>A (p.A81=) - VPS13C_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.426T>C r.(?) p.(Phe142=) - likely benign g.62320579A>G g.62028380A>G VPS13C(NM_001018088.2):c.426T>C (p.F142=) - VPS13C_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.432C>T r.(?) p.(Tyr144=) - likely benign g.62320573G>A g.62028374G>A VPS13C(NM_001018088.2):c.432C>T (p.Y144=) - VPS13C_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.458G>A r.(?) p.(Arg153His) - benign g.62316035C>T - VPS13C(NM_001018088.2):c.458G>A (p.R153H) - VPS13C_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.511A>G r.(?) p.(Lys171Glu) - likely benign g.62315982T>C - VPS13C(NM_001018088.2):c.511A>G (p.K171E) - VPS13C_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.716T>C r.(?) p.(Leu239Ser) - VUS g.62306160A>G - VPS13C(NM_001018088.2):c.716T>C (p.L239S) - VPS13C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.734T>C r.(?) p.(Ile245Thr) - VUS g.62306142A>G g.62013943A>G VPS13C(NM_001018088.2):c.734T>C (p.I245T) - VPS13C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 11 c.806_807insCAGA r.(?) p.(Arg269Serfs*14) - pathogenic g.62305256_62305257insTCTG g.62013057_62013058insTCTG - - VPS13C_000004 variant maybe c.802_805dupCAGA? PubMed: Lesage 2016, Journal: Lesage 2016 - - Germline yes - - - - Pieter Klap
?/. 1 - c.917A>C r.(?) p.(Tyr306Ser) - VUS g.62302765T>G g.62010566T>G VPS13C(NM_001018088.2):c.917A>C (p.Y306S) - VPS13C_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.917A>G r.(?) p.(Tyr306Cys) - likely benign g.62302765T>C - VPS13C(NM_001018088.2):c.917A>G (p.Y306C) - VPS13C_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.925C>G r.(?) p.(Pro309Ala) - VUS g.62302757G>C g.62010558G>C VPS13C(NM_001018088.2):c.925C>G (p.P309A) - VPS13C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.951G>A r.(?) p.(Thr317=) - likely benign g.62302731C>T - VPS13C(NM_001018088.2):c.951G>A (p.T317=) - VPS13C_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.962A>T r.(?) p.(Asp321Val) - VUS g.62302720T>A g.62010521T>A VPS13C(NM_001018088.2):c.962A>T (p.D321V) - VPS13C_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1225A>G r.(?) p.(Lys409Glu) - VUS g.62299572T>C - VPS13C(NM_001018088.2):c.1225A>G (p.K409E) - VPS13C_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1343C>T r.(?) p.(Ala448Val) - VUS g.62292773G>A g.62000574G>A VPS13C(NM_001018088.2):c.1343C>T (p.A448V) - VPS13C_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 16i_66i c.1353+3556_9106-7010delinsGAAGTGC r.? p.? - likely pathogenic g.62189609_62289207delinsGCACTTC g.61897410_61997008delinsGCACTTC NG_027782.1:g.68460_168056del - VPS13C_000020 1 more item - - - Germline yes - - - - Coro Paisan-Ruiz
-?/. 1 - c.1392T>A r.(?) p.(Ala464=) - likely benign g.62283963A>T - VPS13C(NM_001018088.2):c.1392T>A (p.A464=) - VPS13C_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1484-2A>G r.spl? p.? - pathogenic g.62283295T>C g.61991096T>C VPS13C(NM_001018088.2):c.1484-2A>G - VPS13C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1625C>T r.(?) p.(Thr542Met) - VUS g.62277152G>A g.61984953G>A VPS13C(NM_001018088.2):c.1625C>T (p.T542M) - VPS13C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1708G>A r.(?) p.(Ala570Thr) - VUS g.62277069C>T g.61984870C>T VPS13C(NM_001018088.2):c.1708G>A (p.A570T) - VPS13C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1723G>T r.(?) p.(Val575Leu) - VUS g.62276210C>A g.61984011C>A VPS13C(NM_001018088.2):c.1723G>T (p.V575L) - VPS13C_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1798A>G r.(?) p.(Ile600Val) - likely benign g.62276135T>C - VPS13C(NM_001018088.2):c.1798A>G (p.I600V) - VPS13C_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1826A>T r.(?) p.(Lys609Ile) - VUS g.62276107T>A g.61983908T>A VPS13C(NM_001018088.2):c.1826A>T (p.K609I) - VPS13C_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2030-9C>T r.(=) p.(=) - benign g.62273686G>A g.61981487G>A VPS13C(NM_001018088.2):c.2030-9C>T - VPS13C_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2271A>G r.(?) p.(Gln757=) - likely benign g.62270844T>C g.61978645T>C VPS13C(NM_001018088.2):c.2271A>G (p.Q757=) - VPS13C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2377G>A r.(?) p.(Ala793Thr) - VUS g.62269312C>T g.61977113C>T VPS13C(NM_001018088.2):c.2377G>A (p.A793T) - VPS13C_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2597T>G r.(?) p.(Leu866Trp) - VUS g.62265673A>C g.61973474A>C VPS13C(NM_001018088.2):c.2597T>G (p.L866W) - VPS13C_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2719G>A r.(?) p.(Glu907Lys) - VUS g.62264862C>T g.61972663C>T VPS13C(NM_001018088.2):c.2719G>A (p.E907K) - VPS13C_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2797A>G r.(?) p.(Thr933Ala) - likely benign g.62261612T>C g.61969413T>C VPS13C(NM_001018088.2):c.2797A>G (p.T933A) - VPS13C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2889C>G r.(?) p.(Ser963Arg) - VUS g.62261520G>C g.61969321G>C VPS13C(NM_001018088.2):c.2889C>G (p.S963R) - VPS13C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2921G>A r.(?) p.(Arg974Lys) - benign g.62259637C>T - VPS13C(NM_001018088.2):c.2921G>A (p.R974K) - VPS13C_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2928C>T r.(?) p.(Pro976=) - likely benign g.62259630G>A - VPS13C(NM_001018088.2):c.2928C>T (p.P976=) - VPS13C_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3234T>C r.(?) p.(Asp1078=) - likely benign g.62256131A>G g.61963932A>G VPS13C(NM_001018088.2):c.3234T>C (p.D1078=) - VPS13C_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3394A>G r.(?) p.(Ile1132Val) - benign g.62254989T>C - VPS13C(NM_001018088.2):c.3394A>G (p.I1132V) - VPS13C_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.3712C>T r.(?) p.(Arg1238Cys) - VUS g.62253984G>A g.61961785G>A VPS13C(NM_001018088.2):c.3712C>T (p.R1238C) - VPS13C_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3713G>A r.(?) p.(Arg1238His) - VUS g.62253983C>T g.61961784C>T VPS13C(NM_001018088.2):c.3713G>A (p.R1238H) - VPS13C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3777C>G r.(?) p.(Thr1259=) - benign g.62253919G>C g.61961720G>C VPS13C(NM_001018088.2):c.3777C>G (p.T1259=) - VPS13C_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 37 c.4165G>C r.[4165g>c;4165_4166ins4165+1_4165+14] p.Gly1389Argfs*27 - pathogenic g.62250807C>G g.61958608C>G - - VPS13C_000003 - PubMed: Lesage 2016, Journal: Lesage 2016 - - Germline yes - - - - Pieter Klap
-?/. 1 - c.4166-8C>A r.(=) p.(=) - likely benign g.62246761G>T - VPS13C(NM_001018088.2):c.4166-8C>A - VPS13C_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4249del r.(?) p.(Ile1417LeufsTer4) - VUS g.62246672del g.61954473del VPS13C(NM_001018088.2):c.4249delA (p.I1417Lfs*4) - VPS13C_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4447G>A r.(?) p.(Asp1483Asn) - likely benign g.62244032C>T - VPS13C(NM_001018088.2):c.4447G>A (p.D1483N) - VPS13C_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4506C>T r.(?) p.(Asp1502=) - likely benign g.62243174G>A g.61950975G>A VPS13C(NM_001018088.2):c.4506C>T (p.D1502=) - VPS13C_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4567A>G r.(?) p.(Ile1523Val) - likely benign g.62242586T>C g.61950387T>C VPS13C(NM_001018088.2):c.4567A>G (p.I1523V) - VPS13C_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4669G>C r.(?) p.(Ala1557Pro) - VUS g.62241732C>G g.61949533C>G VPS13C(NM_001018088.2):c.4669G>C (p.A1557P) - VPS13C_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4710C>T r.(?) p.(Ser1570=) - likely benign g.62241691G>A g.61949492G>A VPS13C(NM_001018088.2):c.4710C>T (p.S1570=) - VPS13C_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4745_4751del r.(?) p.(Ile1582ThrfsTer16) - VUS g.62241650_62241656del g.61949451_61949457del VPS13C(NM_001018088.2):c.4745_4751delTCGCTGT (p.I1582Tfs*16) - VPS13C_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4747G>A r.(?) p.(Ala1583Thr) - likely benign g.62241654C>T - VPS13C(NM_001018088.2):c.4747G>A (p.A1583T) - VPS13C_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4760-3dup r.spl? p.? - benign g.62239516dup g.61947317dup VPS13C(NM_001018088.2):c.4760-3dupT - VPS13C_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 43 c.4777del r.(?) p.(Gln1593Lysfs*7) - pathogenic g.62239493del g.61947294del - - VPS13C_000002 - PubMed: Lesage 2016, Journal: Lesage 2016 - - Germline ? - - - - Pieter Klap
-?/. 1 - c.4818T>C r.(?) p.(Asn1606=) - likely benign g.62239450A>G g.61947251A>G VPS13C(NM_001018088.2):c.4818T>C (p.N1606=) - VPS13C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4901A>C r.(?) p.(Lys1634Thr) - likely benign g.62238585T>G - VPS13C(NM_001018088.2):c.4901A>C (p.K1634T) - VPS13C_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5060C>T r.(?) p.(Ala1687Val) - likely benign g.62238002G>A g.61945803G>A VPS13C(NM_001018088.2):c.5060C>T (p.A1687V) - VPS13C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5148+10T>A r.(=) p.(=) - likely benign g.62237904A>T g.61945705A>T VPS13C(NM_001018088.2):c.5148+10T>A - VPS13C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5149-9T>C r.(=) p.(=) - likely benign g.62234275A>G - VPS13C(NM_001018088.2):c.5149-9T>C - VPS13C_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5265G>A r.(?) p.(Leu1755=) - likely benign g.62234150C>T g.61941951C>T VPS13C(NM_001018088.2):c.5265G>A (p.L1755=) - VPS13C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5313A>G r.(?) p.(Ser1771=) - likely benign g.62234102T>C g.61941903T>C VPS13C(NM_001018088.2):c.5313A>G (p.S1771=) - VPS13C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5760A>G r.(?) p.(Gln1920=) - likely benign g.62226526T>C g.61934327T>C VPS13C(NM_001018088.2):c.5760A>G (p.Q1920=) - VPS13C_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.6038+16G>A r.(=) p.(=) - benign g.62223273C>T - VPS13C(NM_001018088.2):c.6038+16G>A - VPS13C_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.6060C>T r.(?) p.(Asp2020=) - likely benign g.62221926G>A g.61929727G>A VPS13C(NM_001018088.2):c.6060C>T (p.D2020=) - VPS13C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6353C>T r.(?) p.(Ala2118Val) - VUS g.62219453G>A g.61927254G>A VPS13C(NM_001018088.2):c.6353C>T (p.A2118V) - VPS13C_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6450T>C r.(?) p.(Ser2150=) - likely benign g.62219356A>G g.61927157A>G VPS13C(NM_001018088.2):c.6450T>C (p.S2150=) - VPS13C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6471C>T r.(?) p.(Leu2157=) - likely benign g.62219335G>A g.61927136G>A VPS13C(NM_001018088.2):c.6471C>T (p.L2157=) - VPS13C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6805C>T r.(?) p.(His2269Tyr) - likely benign g.62214766G>A - VPS13C(NM_001018088.2):c.6805C>T (p.H2269Y) - VPS13C_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6815T>C r.(?) p.(Ile2272Thr) - likely benign g.62214756A>G g.61922557A>G VPS13C(NM_001018088.2):c.6815T>C (p.I2272T) - VPS13C_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6845C>T r.(?) p.(Ser2282Phe) - VUS g.62214726G>A g.61922527G>A VPS13C(NM_001018088.2):c.6845C>T (p.S2282F) - VPS13C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.7139A>G r.(?) p.(His2380Arg) - benign g.62212770T>C g.61920571T>C VPS13C(NM_001018088.2):c.7139A>G (p.H2380R) - VPS13C_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7276G>A r.(?) p.(Val2426Ile) - likely benign g.62212467C>T g.61920268C>T VPS13C(NM_001018088.2):c.7276G>A (p.V2426I) - VPS13C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7298C>G r.(?) p.(Pro2433Arg) - VUS g.62212445G>C g.61920246G>C VPS13C(NM_001018088.2):c.7298C>G (p.P2433R) - VPS13C_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7298C>T r.(?) p.(Pro2433Leu) - VUS g.62212445G>A g.61920246G>A VPS13C(NM_001018088.2):c.7298C>T (p.P2433L) - VPS13C_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.7478-9C>T r.(=) p.(=) - likely benign g.62211657G>A g.61919458G>A VPS13C(NM_001018088.2):c.7478-9C>T - VPS13C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7609A>G r.(?) p.(Lys2537Glu) - VUS g.62211517T>C g.61919318T>C VPS13C(NM_001018088.2):c.7609A>G (p.K2537E) - VPS13C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7624C>T r.(?) p.(Arg2542Cys) - VUS g.62211502G>A g.61919303G>A VPS13C(NM_001018088.2):c.7624C>T (p.R2542C) - VPS13C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7644A>C r.(?) p.(Lys2548Asn) - VUS g.62210451T>G g.61918252T>G VPS13C(NM_001018088.2):c.7644A>C (p.K2548N) - VPS13C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7761-6C>T r.(=) p.(=) - likely benign g.62209840G>A g.61917641G>A VPS13C(NM_001018088.2):c.7761-6C>T - VPS13C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.8238A>G r.(?) p.(Thr2746=) - benign g.62208039T>C g.61915840T>C VPS13C(NM_001018088.2):c.8238A>G (p.T2746=) - VPS13C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8268C>T r.(?) p.(His2756=) - likely benign g.62208009G>A g.61915810G>A VPS13C(NM_001018088.2):c.8268C>T (p.H2756=) - VPS13C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8279T>C r.(?) p.(Ile2760Thr) - likely benign g.62207998A>G g.61915799A>G VPS13C(NM_001018088.2):c.8279T>C (p.I2760T) - VPS13C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8353C>T r.(?) p.(Arg2785Cys) - VUS g.62207924G>A g.61915725G>A VPS13C(NM_001018088.2):c.8353C>T (p.(Arg2785Cys)) - VPS13C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.8366T>A r.(?) p.(Ile2789Asn) - VUS g.62207911A>T - VPS13C(NM_001018088.2):c.8366T>A (p.I2789N) - VPS13C_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 61i c.8445+2T>G r.[8215_8445del, ?] p.? - pathogenic g.62207830A>C g.61915631A>C NM_020821.2:c.8445+2T>G - VPS13C_000001 VPS13C transcript (3 shorter bands) strongly reduced, not visible in heterozygous cases PubMed: Lesage 2016, Journal: Lesage 2016 - - Germline yes - - - - Pieter Klap
?/. 1 - c.8711C>T r.(?) p.(Ser2904Leu) - VUS g.62204043G>A g.61911844G>A VPS13C(NM_001018088.2):c.8711C>T (p.S2904L) - VPS13C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8716-8A>G r.(=) p.(=) - likely benign g.62202512T>C g.61910313T>C VPS13C(NM_001018088.2):c.8716-8A>G - VPS13C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8716T>A r.(?) p.(Cys2906Ser) - VUS g.62202504A>T - VPS13C(NM_001018088.2):c.8716T>A (p.C2906S) - VPS13C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.8738G>A r.(?) p.(Ser2913Asn) - benign g.62202482C>T - VPS13C(NM_001018088.2):c.8738G>A (p.S2913N) - VPS13C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.8766G>C r.(?) p.(Val2922=) - likely benign g.62202454C>G g.61910255C>G VPS13C(NM_001018088.2):c.8766G>C (p.V2922=) - VPS13C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8908dup r.(?) p.(Tyr2970LeufsTer3) - VUS g.62201262dup - VPS13C(NM_020821.2):c.8908dupT (p.Y2970Lfs*3) - VPS13C_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8979-9G>T r.(=) p.(=) - likely benign g.62199598C>A g.61907399C>A VPS13C(NM_001018088.2):c.8979-9G>T - VPS13C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.9035C>A r.(?) p.(Ala3012Glu) - likely benign g.62199533G>T g.61907334G>T VPS13C(NM_001018088.2):c.9035C>A (p.A3012E) - VPS13C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.9106G>A r.(?) p.(Asp3036Asn) - VUS g.62182599C>T g.61890400C>T VPS13C(NM_001018088.2):c.9106G>A (p.D3036N) - VPS13C_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.9411_9412del r.(?) p.(Leu3137PhefsTer18) - VUS g.62176399_62176400del g.61884200_61884201del VPS13C(NM_001018088.2):c.9411_9412delAT (p.L3137Ffs*18) - VPS13C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.9526C>G r.(?) p.(Arg3176Gly) - likely benign g.62174893G>C g.61882694G>C VPS13C(NM_001018088.2):c.9526C>G (p.R3176G) - VPS13C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 69 c.9568G>T r.(?) p.(Glu3190*) - pathogenic g.62174851C>A g.61882652C>A - - VPS13C_000005 - PubMed: Lesage 2016, Journal: Lesage 2016 - - Germline yes - - - - Pieter Klap
?/. 1 - c.9595A>G r.(?) p.(Ser3199Gly) - VUS g.62174824T>C g.61882625T>C VPS13C(NM_001018088.2):c.9595A>G (p.S3199G) - VPS13C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.10029C>T r.(?) p.(Ser3343=) - likely benign g.62170919G>A g.61878720G>A VPS13C(NM_001018088.2):c.10029C>T (p.S3343=) - VPS13C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.10030G>A r.(?) p.(Gly3344Arg) - VUS g.62170918C>T g.61878719C>T VPS13C(NM_001018088.2):c.10030G>A (p.G3344R) - VPS13C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.10085A>G r.(?) p.(Asn3362Ser) - VUS g.62170863T>C g.61878664T>C VPS13C(NM_001018088.2):c.10085A>G (p.(Asn3362Ser)) - VPS13C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.10105G>A r.(?) p.(Gly3369Ser) - VUS g.62170843C>T g.61878644C>T VPS13C(NM_001018088.2):c.10105G>A (p.G3369S) - VPS13C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.10164A>G r.(?) p.(Arg3388=) - likely benign g.62169232T>C g.61877033T>C VPS13C(NM_001018088.2):c.10164A>G (p.R3388=) - VPS13C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.10225-6T>C r.(=) p.(=) - likely benign g.62168050A>G g.61875851A>G VPS13C(NM_001018088.2):c.10225-6T>C - VPS13C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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