All transcript variants in gene VCAN

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004385.4 transcript reference sequence.

169 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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.-648A>G r.(=) p.(=) - likely benign g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.70+12A>G r.(=) p.(=) - likely benign g.82779419A>G g.83483600A>G VCAN(NM_004385.4):c.70+12A>G - VCAN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.71-18A>G r.(=) p.(=) - benign g.82785899A>G g.83490080A>G VCAN(NM_004385.4):c.71-18A>G - VCAN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.135T>C r.(?) p.(His45=) - benign g.82785981T>C g.83490162T>C VCAN(NM_004385.4):c.135T>C (p.H45=) - VCAN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.170A>C r.(?) p.(Asn57Thr) - VUS g.82786016A>C g.83490197A>C VCAN(NM_004385.4):c.170A>C (p.N57T) - VCAN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.237A>T r.(?) p.(Lys79Asn) - VUS g.82786083A>T g.83490264A>T VCAN(NM_004385.4):c.237A>T (p.K79N) - VCAN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.249C>A r.(?) p.(Val83=) - likely benign g.82786095C>A g.83490276C>A VCAN(NM_004385.4):c.249C>A (p.V83=) - VCAN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.348T>C r.(?) p.(Thr116=) - benign g.82786194T>C g.83490375T>C VCAN(NM_004385.4):c.348T>C (p.T116=) - VCAN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.393C>T r.(?) p.(Asp131=) - benign g.82786239C>T g.83490420C>T VCAN(NM_004385.4):c.393C>T (p.D131=) - VCAN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.468G>A r.(?) p.(Ala156=) - likely benign g.82789387G>A g.83493568G>A VCAN(NM_004385.4):c.468G>A (p.A156=) - VCAN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.522C>T r.(?) p.(Asp174=) - likely benign g.82789441C>T g.83493622C>T VCAN(NM_004385.4):c.522C>T (p.D174=) - VCAN_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.574G>A r.(?) p.(Gly192Arg) - VUS g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.574G>A r.(?) p.(Gly192Arg) - likely benign g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.574G>A r.(?) p.(Gly192Arg) - likely benign g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.634G>A r.(?) p.(Ala212Thr) - likely benign g.82789636G>A g.83493817G>A VCAN(NM_004385.4):c.634G>A (p.A212T) - VCAN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.645A>G r.(?) p.(Val215=) - benign g.82789647A>G g.83493828A>G VCAN(NM_004385.4):c.645A>G (p.V215=) - VCAN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.749-9T>C r.(=) p.(=) - likely benign g.82807913T>C g.83512094T>C VCAN(NM_004385.4):c.749-9T>C - VCAN_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.854C>T r.(?) p.(Ala285Val) - VUS g.82808027C>T g.83512208C>T VCAN(NM_004385.4):c.854C>T (p.A285V) - VCAN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.888C>T r.(?) p.(Tyr296=) - benign g.82808061C>T g.83512242C>T VCAN(NM_004385.4):c.888C>T (p.Y296=) - VCAN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.899C>T r.(?) p.(Ser300Leu) - benign g.82808072C>T g.83512253C>T VCAN(NM_004385.4):c.899C>T (p.S300L) - VCAN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1042C>T r.(?) p.(Pro348Ser) - VUS g.82808215C>T g.83512396C>T VCAN(NM_001126336.3):c.1042C>T (p.R348*) - VCAN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1043-10A>G r.(=) p.(=) - benign g.82815158A>G g.83519339A>G VCAN(NM_004385.4):c.1043-10A>G - VCAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1045A>G r.(?) p.(Lys349Glu) - benign g.82815170A>G g.83519351A>G VCAN(NM_004385.4):c.1045A>G (p.K349E) - VCAN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1045A>G r.(?) p.(Lys349Glu) - benign g.82815170A>G g.83519351A>G - - VCAN_000010 120 heterozygous; Clinindb (India) Faruq 2020, submtted - rs61749613 Germline - 120/2795 individuals - 0 - Mohammed Faruq
-/. - c.1045A>G r.(?) p.(Lys349Glu) - benign g.82815170A>G g.83519351A>G - - VCAN_000010 6 homozygous; Clinindb (India) Faruq 2020, submtted - rs61749613 Germline - 6/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1127A>C r.(?) p.(Asp376Ala) - likely benign g.82815252A>C g.83519433A>C - - VCAN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1191C>T r.(?) p.(Pro397=) - likely benign g.82815316C>T g.83519497C>T VCAN(NM_004385.4):c.1191C>T (p.P397=) - VCAN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1192G>A r.(?) p.(Val398Met) - likely benign g.82815317G>A g.83519498G>A VCAN(NM_004385.4):c.1192G>A (p.V398M) - VCAN_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1227A>G r.(?) p.(Thr409=) - benign g.82815352A>G g.83519533A>G VCAN(NM_004385.4):c.1227A>G (p.T409=) - VCAN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1243A>G r.(?) p.(Ile415Val) - benign g.82815368A>G g.83519549A>G VCAN(NM_004385.4):c.1243A>G (p.I415V) - VCAN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1243A>G r.(?) p.(Ile415Val) - likely benign g.82815368A>G g.83519549A>G VCAN(NM_004385.4):c.1243A>G (p.I415V) - VCAN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1281T>C r.(?) p.(Thr427=) - likely benign g.82815406T>C g.83519587T>C VCAN(NM_004385.4):c.1281T>C (p.T427=) - VCAN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1283G>A r.(?) p.(Gly428Asp) - benign g.82815408G>A g.83519589G>A VCAN(NM_004385.4):c.1283G>A (p.G428D) - VCAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1283G>A r.(?) p.(Gly428Asp) - benign g.82815408G>A g.83519589G>A VCAN(NM_004385.4):c.1283G>A (p.G428D) - VCAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1395C>T r.(?) p.(Gly465=) - likely benign g.82815520C>T g.83519701C>T VCAN(NM_004385.4):c.1395C>T (p.G465=) - VCAN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1400C>T r.(?) p.(Ser467Phe) - benign g.82815525C>T g.83519706C>T VCAN(NM_004385.4):c.1400C>T (p.S467F) - VCAN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1400C>T r.(?) p.(Ser467Phe) - likely benign g.82815525C>T g.83519706C>T VCAN(NM_004385.4):c.1400C>T (p.S467F) - VCAN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1521C>T r.(?) p.(His507=) - benign g.82815646C>T g.83519827C>T VCAN(NM_004385.4):c.1521C>T (p.H507=) - VCAN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1523T>A r.(?) p.(Ile508Asn) - likely benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1523T>A r.(?) p.(Ile508Asn) - likely benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1523T>A r.(?) p.(Ile508Asn) - benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1571G>A r.(?) p.(Arg524Lys) - likely benign g.82815696G>A g.83519877G>A VCAN(NM_004385.4):c.1571G>A (p.R524K) - VCAN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1864T>C r.(?) p.(Trp622Arg) - benign g.82815989T>C g.83520170T>C VCAN(NM_004385.4):c.1864T>C (p.W622R) - VCAN_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1895C>A r.(?) p.(Thr632Lys) - likely benign g.82816020C>A g.83520201C>A VCAN(NM_004385.4):c.1895C>A (p.T632K) - VCAN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1895C>T r.(?) p.(Thr632Met) - benign g.82816020C>T g.83520201C>T VCAN(NM_004385.4):c.1895C>T (p.T632M) - VCAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1895C>T r.(?) p.(Thr632Met) - benign g.82816020C>T g.83520201C>T VCAN(NM_004385.4):c.1895C>T (p.T632M) - VCAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1931C>T r.(?) p.(Pro644Leu) - VUS g.82816056C>T g.83520237C>T VCAN(NM_004385.4):c.1931C>T (p.P644L) - VCAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1931C>T r.(?) p.(Pro644Leu) - VUS g.82816056C>T g.83520237C>T VCAN(NM_004385.4):c.1931C>T (p.P644L) - VCAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2028A>G r.(?) p.(Leu676=) - benign g.82816153A>G g.83520334A>G VCAN(NM_004385.4):c.2028A>G (p.L676=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2028A>G r.(?) p.(Leu676=) - likely benign g.82816153A>G g.83520334A>G VCAN(NM_004385.4):c.2028A>G (p.L676=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2065A>G r.(?) p.(Thr689Ala) - benign g.82816190A>G g.83520371A>G VCAN(NM_004385.4):c.2065A>G (p.T689A) - VCAN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2101G>A r.(?) p.(Asp701Asn) - VUS g.82816226G>A g.83520407G>A VCAN(NM_004385.4):c.2101G>A (p.D701N) - VCAN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2125A>G r.(?) p.(Lys709Glu) - VUS g.82816250A>G g.83520431A>G VCAN(NM_004385.4):c.2125A>G (p.K709E) - VCAN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2159T>C r.(?) p.(Val720Ala) - likely benign g.82816284T>C g.83520465T>C VCAN(NM_004385.4):c.2159T>C (p.V720A) - VCAN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2180C>G r.(?) p.(Ser727Cys) - likely benign g.82816305C>G g.83520486C>G VCAN(NM_004385.4):c.2180C>G (p.S727C) - VCAN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2220T>C r.(?) p.(Ser740=) - benign g.82816345T>C g.83520526T>C VCAN(NM_004385.4):c.2220T>C (p.S740=) - VCAN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2234A>C r.(?) p.(Lys745Thr) - VUS g.82816359A>C g.83520540A>C VCAN(NM_004385.4):c.2234A>C (p.K745T) - VCAN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2378T>C r.(?) p.(Leu793Ser) - benign g.82816503T>C g.83520684T>C VCAN(NM_004385.4):c.2378T>C (p.L793S) - VCAN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2656A>G r.(?) p.(Thr886Ala) - VUS g.82816781A>G g.83520962A>G VCAN(NM_004385.4):c.2656A>G (p.T886A) - VCAN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2666C>T r.(?) p.(Thr889Ile) - benign g.82816791C>T g.83520972C>T VCAN(NM_004385.4):c.2666C>T (p.T889I) - VCAN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2666C>T r.(?) p.(Thr889Ile) - likely benign g.82816791C>T g.83520972C>T VCAN(NM_004385.4):c.2666C>T (p.T889I) - VCAN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2784A>G r.(?) p.(Val928=) - likely benign g.82816909A>G g.83521090A>G VCAN(NM_004385.4):c.2784A>G (p.V928=) - VCAN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2887C>T r.(?) p.(Pro963Ser) - benign g.82817012C>T g.83521193C>T VCAN(NM_004385.4):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2887C>T r.(?) p.(Pro963Ser) - benign g.82817012C>T g.83521193C>T VCAN(NM_004385.4):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2891C>T r.(?) p.(Thr964Ile) - VUS g.82817016C>T g.83521197C>T VCAN(NM_004385.4):c.2891C>T (p.T964I) - VCAN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3076A>G r.(?) p.(Ile1026Val) - likely benign g.82817201A>G g.83521382A>G VCAN(NM_004385.4):c.3076A>G (p.I1026V) - VCAN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3076A>G r.(?) p.(Ile1026Val) - likely benign g.82817201A>G g.83521382A>G VCAN(NM_004385.4):c.3076A>G (p.I1026V) - VCAN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3094C>G r.(?) p.(Gln1032Glu) - benign g.82817219C>G g.83521400C>G VCAN(NM_004385.4):c.3094C>G (p.Q1032E) - VCAN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3188T>C r.(?) p.(Leu1063Pro) - likely benign g.82817313T>C g.83521494T>C VCAN(NM_004385.4):c.3188T>C (p.L1063P) - VCAN_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3192T>A r.(?) p.(Asp1064Glu) - VUS g.82817317T>A g.83521498T>A VCAN(NM_001164098.1):c.3192T>A (p.(Asp1064Glu)) - VCAN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3201G>A r.(?) p.(Glu1067=) - benign g.82817326G>A g.83521507G>A VCAN(NM_004385.4):c.3201G>A (p.E1067=) - VCAN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3528G>A r.(?) p.(Glu1176=) - likely benign g.82817653G>A g.83521834G>A VCAN(NM_004385.4):c.3528G>A (p.E1176=) - VCAN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3531T>C r.(?) p.(Asp1177=) - likely benign g.82817656T>C g.83521837T>C VCAN(NM_004385.4):c.3531T>C (p.D1177=) - VCAN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3639A>G r.(?) p.(Ser1213=) - benign g.82817764A>G g.83521945A>G VCAN(NM_004385.4):c.3639A>G (p.S1213=) - VCAN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3959C>T r.(?) p.(Pro1320Leu) - VUS g.82818084C>T g.83522265C>T VCAN(NM_004385.4):c.3959C>T (p.P1320L) - VCAN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.4003+16C>G r.(=) p.(=) - benign g.82818144C>G g.83522325C>G VCAN(NM_004385.4):c.4003+16C>G - VCAN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 7i_8i c.4004-2585_9266-609del r.(4004_9265del)) p.(Arg1336_Gly3089del) - pathogenic g.82830241_82840747del g.83534422_83544928del g.67712_78218del - VCAN_000002 - - - - Germline yes - - 0 - Burin des Roziers Cyril
+/. - c.4004-5T>A r.spl? p.? - pathogenic g.82832821T>A g.83537002T>A - - VCAN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.4004-5T>C r.spl? p.? - pathogenic g.82832821T>C g.83537002T>C VCAN(NM_004385.4):c.4004-5T>C - VCAN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.4004-5T>C r.spl? p.? - pathogenic g.82832821T>C g.83537002T>C VCAN(NM_004385.4):c.4004-5T>C - VCAN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7i c.4004-2A>G r.4004_4042del p.Gly1335_Ile1347del - pathogenic g.82832824A>G g.83537005A>G c.4004-2A>G - VCAN_000003 not in 500 control chromosomes; mapped by linkage analysis PubMed: Miyamoto 2005, Journal: Miyamoto 2005, OMIM:var0001 - rs80356555 Germline yes - - 0 - Johan den Dunnen
?/. - c.4007G>A r.(?) p.(Arg1336Gln) - VUS g.82832829G>A g.83537010G>A VCAN(NM_004385.4):c.4007G>A (p.R1336Q) - VCAN_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4218A>G r.(?) p.(Pro1406=) - likely benign g.82833040A>G g.83537221A>G VCAN(NM_004385.4):c.4218A>G (p.P1406=) - VCAN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4323G>A r.(?) p.(Gln1441=) - benign g.82833145G>A g.83537326G>A VCAN(NM_004385.4):c.4323G>A (p.Q1441=) - VCAN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.4394T>C r.(?) p.(Val1465Ala) - likely benign g.82833216T>C g.83537397T>C VCAN(NM_004385.4):c.4394T>C (p.V1465A) - VCAN_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4466C>T r.(?) p.(Thr1489Ile) - VUS g.82833288C>T g.83537469C>T VCAN(NM_004385.4):c.4466C>T (p.T1489I) - VCAN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4547A>G r.(?) p.(Lys1516Arg) - benign g.82833369A>G g.83537550A>G VCAN(NM_004385.4):c.4547A>G (p.K1516R) - VCAN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.4552G>T r.(?) p.(Gly1518Trp) - likely benign g.82833374G>T g.83537555G>T VCAN(NM_004385.4):c.4552G>T (p.G1518W) - VCAN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.4569A>G r.(?) p.(Thr1523=) - benign g.82833391A>G g.83537572A>G VCAN(NM_004385.4):c.4569A>G (p.T1523=) - VCAN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.4599A>T r.(?) p.(Ala1533=) - likely benign g.82833421A>T g.83537602A>T VCAN(NM_004385.4):c.4599A>T (p.A1533=) - VCAN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.4604A>G r.(?) p.(Glu1535Gly) - likely benign g.82833426A>G g.83537607A>G VCAN(NM_004385.4):c.4604A>G (p.E1535G) - VCAN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4604A>G r.(?) p.(Glu1535Gly) - likely benign g.82833426A>G g.83537607A>G VCAN(NM_004385.4):c.4604A>G (p.E1535G) - VCAN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.4762C>A r.(?) p.(Pro1588Thr) - benign g.82833584C>A g.83537765C>A VCAN(NM_004385.4):c.4762C>A (p.P1588T) - VCAN_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.4944T>A r.(?) p.(Asp1648Glu) - likely benign g.82833766T>A g.83537947T>A VCAN(NM_004385.4):c.4944T>A (p.D1648E) - VCAN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.5119del r.(?) p.(Ser1707Valfs*44) - pathogenic (dominant) g.82833941del g.83538122del 5118_5118delA - VCAN_000137 - {PMID:Kastner 2015:26720455 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.5187G>A r.(?) p.(Glu1729=) - benign g.82834009G>A g.83538190G>A VCAN(NM_004385.4):c.5187G>A (p.E1729=) - VCAN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.5187G>A r.(?) p.(Glu1729=) - likely benign g.82834009G>A g.83538190G>A VCAN(NM_004385.4):c.5187G>A (p.E1729=) - VCAN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.5425C>T r.(?) p.(His1809Tyr) - benign g.82834247C>T g.83538428C>T VCAN(NM_004385.4):c.5425C>T (p.H1809Y) - VCAN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.5477G>A r.(?) p.(Arg1826His) - benign g.82834299G>A g.83538480G>A VCAN(NM_004385.4):c.5477G>A (p.R1826H) - VCAN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.5526C>T r.(?) p.(Ala1842=) - likely benign g.82834348C>T g.83538529C>T VCAN(NM_004385.4):c.5526C>T (p.A1842=) - VCAN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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