Full data view for 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.

248 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. _1 c.-648A>G r.(=) p.(=) Both (homozygous) - likely benign g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - WGVRP - PubMed: Kloeckener-Gruissem 2006, Wagner 1938, Augenheilkd. 100:840-858 5-generation family, 36 affecteds (17F, 19M) F;M - Switzerland - - - - - 36 Johan den Dunnen
?/. - c.58G>A r.(?) p.(Ala20Thr) Unknown - VUS g.82779395G>A - VCAN(NM_004385.4):c.58G>A (p.A20T) - VCAN_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70+12A>G r.(=) p.(=) Unknown - likely benign g.82779419A>G g.83483600A>G VCAN(NM_004385.5):c.70+12A>G - VCAN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71-18A>G r.(=) p.(=) Unknown - benign g.82785899A>G g.83490080A>G VCAN(NM_004385.5):c.71-18A>G - VCAN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92C>T r.(?) p.(Pro31Leu) Unknown - likely benign g.82785938C>T - VCAN(NM_004385.5):c.92C>T (p.P31L) - VCAN_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>T r.(?) p.(Pro53Ser) Unknown - likely benign g.82786003C>T - VCAN(NM_004385.5):c.157C>T (p.P53S) - VCAN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170A>C r.(?) p.(Asn57Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.237A>T r.(?) p.(Lys79Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249C>A r.(?) p.(Val83=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329T>G r.(?) p.(Val110Gly) Unknown - VUS g.82786175T>G g.83490356T>G - - VCAN_000151 1/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP056 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-/. - c.348T>C r.(?) p.(Thr116=) Unknown - benign g.82786194T>C g.83490375T>C VCAN(NM_004385.5):c.348T>C (p.T116=) - VCAN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393C>T r.(?) p.(Asp131=) Unknown - benign g.82786239C>T g.83490420C>T VCAN(NM_004385.5):c.393C>T (p.D131=) - VCAN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426G>A r.(?) p.(=) Unknown - benign g.82786272G>A - VCAN(NM_004385.5):c.426G>A (p.T142=) - VCAN_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468G>A r.(?) p.(Ala156=) Unknown - likely benign g.82789387G>A g.83493568G>A VCAN(NM_004385.5):c.468G>A (p.A156=) - VCAN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Asp174=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Gly192Arg) Unknown - likely benign g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Gly192Arg) Unknown - likely benign g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Gly192Arg) Unknown - likely benign g.82789493G>A g.83493674G>A VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>A r.(?) p.(Gly192Arg) Unknown - likely benign g.82789493G>A - VCAN(NM_004385.4):c.574G>A (p.G192R), VCAN(NM_004385.5):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634G>A r.(?) p.(Ala212Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.645A>G r.(?) p.(Val215=) Unknown - benign g.82789647A>G g.83493828A>G VCAN(NM_004385.5):c.645A>G (p.V215=) - VCAN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.749-9T>C r.(=) p.(=) Unknown - likely benign g.82807913T>C g.83512094T>C VCAN(NM_004385.5):c.749-9T>C - VCAN_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.763C>T r.(?) p.(Leu255Phe) Unknown - benign g.82807936C>T - VCAN(NM_004385.5):c.763C>T (p.L255F) - VCAN_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.854C>T r.(?) p.(Ala285Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888C>T r.(?) p.(Tyr296=) Unknown - benign g.82808061C>T g.83512242C>T VCAN(NM_004385.5):c.888C>T (p.Y296=) - VCAN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.899C>T r.(?) p.(Ser300Leu) Unknown - benign g.82808072C>T g.83512253C>T VCAN(NM_004385.5):c.899C>T (p.S300L) - VCAN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927T>C r.(?) p.(Thr309=) Unknown - likely benign g.82808100T>C - VCAN(NM_004385.5):c.927T>C (p.T309=) - VCAN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1042C>T r.(?) p.(Pro348Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1043-10A>G r.(=) p.(=) Unknown - benign g.82815158A>G g.83519339A>G VCAN(NM_004385.5):c.1043-10A>G - VCAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1045A>G r.(?) p.(Lys349Glu) Unknown - benign g.82815170A>G g.83519351A>G VCAN(NM_004385.5):c.1045A>G (p.K349E) - VCAN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1045A>G r.(?) p.(Lys349Glu) Parent #1 - benign g.82815170A>G g.83519351A>G - - VCAN_000010 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61749613 Germline - 120/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 120 Mohammed Faruq
-/. - c.1045A>G r.(?) p.(Lys349Glu) Both (homozygous) - benign g.82815170A>G g.83519351A>G - - VCAN_000010 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61749613 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.1127A>C r.(?) p.(Asp376Ala) Unknown - likely benign g.82815252A>C g.83519433A>C - - VCAN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1191C>T r.(?) p.(Pro397=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1192G>A r.(?) p.(Val398Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227A>G r.(?) p.(Thr409=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1243A>G r.(?) p.(Ile415Val) Unknown - benign g.82815368A>G g.83519549A>G VCAN(NM_004385.4):c.1243A>G (p.I415V), VCAN(NM_004385.5):c.1243A>G (p.I415V) - VCAN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243A>G r.(?) p.(Ile415Val) Unknown - likely benign g.82815368A>G g.83519549A>G VCAN(NM_004385.4):c.1243A>G (p.I415V), VCAN(NM_004385.5):c.1243A>G (p.I415V) - VCAN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251T>C r.(?) p.(Asp417=) Unknown - likely benign g.82815376T>C - VCAN(NM_004385.4):c.1251T>C (p.D417=) - VCAN_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1281T>C r.(?) p.(Thr427=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1283G>A r.(?) p.(Gly428Asp) Unknown - benign g.82815408G>A g.83519589G>A VCAN(NM_004385.5):c.1283G>A (p.G428D) - VCAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1283G>A r.(?) p.(Gly428Asp) Unknown - benign g.82815408G>A g.83519589G>A VCAN(NM_004385.5):c.1283G>A (p.G428D) - VCAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1371A>G r.(?) p.(=) Unknown - likely benign g.82815496A>G - VCAN(NM_004385.5):c.1371A>G (p.E457=) - VCAN_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395C>T r.(?) p.(Gly465=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1400C>T r.(?) p.(Ser467Phe) Unknown - benign g.82815525C>T g.83519706C>T VCAN(NM_004385.4):c.1400C>T (p.S467F), VCAN(NM_004385.5):c.1400C>T (p.S467F) - VCAN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1400C>T r.(?) p.(Ser467Phe) Unknown - likely benign g.82815525C>T g.83519706C>T VCAN(NM_004385.4):c.1400C>T (p.S467F), VCAN(NM_004385.5):c.1400C>T (p.S467F) - VCAN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1521C>T r.(?) p.(His507=) Unknown - benign g.82815646C>T g.83519827C>T VCAN(NM_004385.5):c.1521C>T (p.H507=) - VCAN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1523T>A r.(?) p.(Ile508Asn) Unknown - likely benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1523T>A r.(?) p.(Ile508Asn) Unknown - likely benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1523T>A r.(?) p.(Ile508Asn) Unknown - benign g.82815648T>A g.83519829T>A VCAN(NM_004385.4):c.1523T>A (p.I508N), VCAN(NM_004385.5):c.1523T>A (p.I508N) - VCAN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1571G>A r.(?) p.(Arg524Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1571G>C r.(?) p.(Arg524Thr) Unknown - likely benign g.82815696G>C - VCAN(NM_004385.4):c.1571G>C (p.R524T) - VCAN_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1831A>G r.(?) p.(Met611Val) Unknown - likely benign g.82815956A>G - VCAN(NM_004385.4):c.1831A>G (p.M611V) - VCAN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1864T>C r.(?) p.(Trp622Arg) Unknown - benign g.82815989T>C g.83520170T>C VCAN(NM_004385.5):c.1864T>C (p.W622R) - VCAN_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1895C>A r.(?) p.(Thr632Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1895C>T r.(?) p.(Thr632Met) Unknown - benign g.82816020C>T g.83520201C>T VCAN(NM_004385.4):c.1895C>T (p.T632M), VCAN(NM_004385.5):c.1895C>T (p.T632M) - VCAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1895C>T r.(?) p.(Thr632Met) Unknown - benign g.82816020C>T g.83520201C>T VCAN(NM_004385.4):c.1895C>T (p.T632M), VCAN(NM_004385.5):c.1895C>T (p.T632M) - VCAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1895C>T r.(?) p.(Thr632Met) Unknown - VUS g.82816020C>T g.83520201C>T - - VCAN_000016 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71134 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.1931C>T r.(?) p.(Pro644Leu) Unknown - VUS g.82816056C>T g.83520237C>T VCAN(NM_004385.4):c.1931C>T (p.P644L), VCAN(NM_004385.5):c.1931C>T (p.P644L) - VCAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931C>T r.(?) p.(Pro644Leu) Unknown - VUS g.82816056C>T g.83520237C>T VCAN(NM_004385.4):c.1931C>T (p.P644L), VCAN(NM_004385.5):c.1931C>T (p.P644L) - VCAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2028A>G r.(?) p.(Leu676=) Unknown - benign g.82816153A>G g.83520334A>G VCAN(NM_004385.4):c.2028A>G (p.L676=), VCAN(NM_004385.5):c.2028A>G (p.L676=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2028A>G r.(?) p.(Leu676=) Unknown - likely benign g.82816153A>G g.83520334A>G VCAN(NM_004385.4):c.2028A>G (p.L676=), VCAN(NM_004385.5):c.2028A>G (p.L676=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2065A>G r.(?) p.(Thr689Ala) Unknown - benign g.82816190A>G g.83520371A>G VCAN(NM_004385.5):c.2065A>G (p.T689A) - VCAN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2101G>A r.(?) p.(Asp701Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.2104G>A r.(?) p.(Glu702Lys) Unknown - VUS g.82816229G>A g.83520410G>A G2104A - VCAN_000153 - PubMed: Katagiri 2014 - rs201590497 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#003 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.2125A>G r.(?) p.(Lys709Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2159T>C r.(?) p.(Val720Ala) Unknown - likely benign g.82816284T>C g.83520465T>C VCAN(NM_004385.5):c.2159T>C (p.V720A) - VCAN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2180C>G r.(?) p.(Ser727Cys) Unknown - likely benign g.82816305C>G g.83520486C>G VCAN(NM_004385.5):c.2180C>G (p.S727C) - VCAN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2220T>C r.(?) p.(Ser740=) Unknown - benign g.82816345T>C g.83520526T>C VCAN(NM_004385.5):c.2220T>C (p.S740=) - VCAN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2234A>C r.(?) p.(Lys745Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2234A>C r.(?) p.(Lys745Thr) Unknown - VUS g.82816359A>C g.83520540A>C - - VCAN_000094 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71918 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
?/. - c.2338G>T r.(?) p.(Asp780Tyr) Unknown - VUS g.82816463G>T - VCAN(NM_004385.4):c.2338G>T (p.D780Y) - VCAN_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2378T>C r.(?) p.(Leu793Ser) Unknown - benign g.82816503T>C g.83520684T>C VCAN(NM_004385.5):c.2378T>C (p.L793S) - VCAN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2656A>G r.(?) p.(Thr886Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2666C>T r.(?) p.(Thr889Ile) Unknown - benign g.82816791C>T g.83520972C>T VCAN(NM_004385.4):c.2666C>T (p.T889I), VCAN(NM_004385.5):c.2666C>T (p.T889I) - VCAN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2666C>T r.(?) p.(Thr889Ile) Unknown - likely benign g.82816791C>T g.83520972C>T VCAN(NM_004385.4):c.2666C>T (p.T889I), VCAN(NM_004385.5):c.2666C>T (p.T889I) - VCAN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784A>G r.(?) p.(Val928=) Unknown - likely benign g.82816909A>G g.83521090A>G VCAN(NM_004385.4):c.2784A>G (p.V928=), VCAN(NM_004385.5):c.2784A>G (p.V928=) - VCAN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784A>G r.(?) p.(Val928=) Unknown - likely benign g.82816909A>G - VCAN(NM_004385.4):c.2784A>G (p.V928=), VCAN(NM_004385.5):c.2784A>G (p.V928=) - VCAN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2875A>T r.(?) p.(Ser959Cys) Unknown - likely benign g.82817000A>T - VCAN(NM_004385.5):c.2875A>T (p.S959C) - VCAN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2887C>T r.(?) p.(Pro963Ser) Unknown - benign g.82817012C>T g.83521193C>T VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2887C>T r.(?) p.(Pro963Ser) Unknown - benign g.82817012C>T g.83521193C>T VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2887C>T r.(?) p.(Pro963Ser) Unknown - benign g.82817012C>T - VCAN(NM_004385.4):c.2887C>T (p.P963S), VCAN(NM_004385.5):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2891C>T r.(?) p.(Thr964Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2895T>G r.(?) p.(Thr965=) Unknown - likely benign g.82817020T>G - VCAN(NM_004385.4):c.2895T>G (p.T965=) - VCAN_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3076A>G r.(?) p.(Ile1026Val) Unknown - likely benign g.82817201A>G g.83521382A>G VCAN(NM_004385.4):c.3076A>G (p.I1026V), VCAN(NM_004385.5):c.3076A>G (p.I1026V) - VCAN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3076A>G r.(?) p.(Ile1026Val) Unknown - likely benign g.82817201A>G g.83521382A>G VCAN(NM_004385.4):c.3076A>G (p.I1026V), VCAN(NM_004385.5):c.3076A>G (p.I1026V) - VCAN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3094C>G r.(?) p.(Gln1032Glu) Unknown - benign g.82817219C>G g.83521400C>G VCAN(NM_004385.5):c.3094C>G (p.Q1032E) - VCAN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3188T>C r.(?) p.(Leu1063Pro) Unknown - likely benign g.82817313T>C g.83521494T>C VCAN(NM_004385.5):c.3188T>C (p.L1063P) - VCAN_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3192T>A r.(?) p.(Asp1064Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3201G>A r.(?) p.(Glu1067=) Unknown - benign g.82817326G>A g.83521507G>A VCAN(NM_004385.5):c.3201G>A (p.E1067=) - VCAN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3205G>A r.(?) p.(Asp1069Asn) Unknown - VUS g.82817330G>A - VCAN(NM_004385.4):c.3205G>A (p.D1069N) - VCAN_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.3455C>A r.(?) p.(Ser1152*) Maternal (confirmed) ACMG pathogenic (dominant) g.82817580C>A g.83521761C>A - - VCAN_000187 This variant was confirmed by Sanger sequencing in patient and tested in parents (maternal confirmed). This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). - - - Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing DIAR4 3bINP-047 PubMed: Vela-Amieva 2024 Parents with inbreeding and consanguinity (not molecularly tested). Co-occurrence of two different monogenic diseases F yes Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-?/. - c.3528G>A r.(?) p.(Glu1176=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3531T>C r.(?) p.(Asp1177=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3639A>G r.(?) p.(Ser1213=) Unknown - benign g.82817764A>G g.83521945A>G VCAN(NM_004385.5):c.3639A>G (p.S1213=) - VCAN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3749T>G r.(?) p.(Ile1250Ser) Unknown - VUS g.82817874T>G - VCAN(NM_004385.5):c.3749T>G (p.I1250S) - VCAN_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3933G>A r.(?) p.(Gln1311=) Unknown - likely benign g.82818058G>A - VCAN(NM_004385.5):c.3933G>A (p.Q1311=) - VCAN_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3959C>T r.(?) p.(Pro1320Leu) Unknown - VUS g.82818084C>T g.83522265C>T VCAN(NM_004385.5):c.3959C>T (p.P1320L) - VCAN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4003+16C>G r.(=) p.(=) Unknown - benign g.82818144C>G g.83522325C>G VCAN(NM_004385.5):c.4003+16C>G - VCAN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i_8i c.4004-2585_9266-609del r.(4004_9265del)) p.(Arg1336_Gly3089del) Maternal (confirmed) - pathogenic g.82830241_82840747del g.83534422_83544928del g.67712_78218del - VCAN_000002 - - - - Germline yes - - - - DNA SEQ-NG-IT Blood - WGVRP - - - - no France - - - - - 1 Burin des Roziers Cyril
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