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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.(=) g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.70+12A>G likely benign r.(=) p.(=) g.82779419A>G - VCAN(NM_004385.4):c.70+12A>G - VCAN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.71-18A>G benign r.(=) p.(=) g.82785899A>G - VCAN(NM_004385.4):c.71-18A>G - VCAN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.135T>C benign r.(?) p.(=) g.82785981T>C - VCAN(NM_004385.4):c.135T>C (p.=) - VCAN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.170A>C VUS r.(?) p.(Asn57Thr) g.82786016A>C - VCAN(NM_004385.4):c.170A>C (p.N57T) - VCAN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.237A>T VUS r.(?) p.(Lys79Asn) g.82786083A>T - VCAN(NM_004385.4):c.237A>T (p.K79N) - VCAN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.249C>A likely benign r.(?) p.(=) g.82786095C>A - VCAN(NM_004385.4):c.249C>A (p.V83=) - VCAN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.348T>C benign r.(?) p.(=) g.82786194T>C - VCAN(NM_004385.4):c.348T>C (p.=) - VCAN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.393C>T benign r.(?) p.(=) g.82786239C>T - VCAN(NM_004385.4):c.393C>T (p.=) - VCAN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.468G>A likely benign r.(?) p.(=) g.82789387G>A - VCAN(NM_004385.4):c.468G>A (p.=) - VCAN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.574G>A VUS r.(?) p.(Gly192Arg) g.82789493G>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 likely benign r.(?) p.(Gly192Arg) g.82789493G>A - VCAN(NM_004385.4):c.574G>A (p.G192R) - VCAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.634G>A likely benign r.(?) p.(Ala212Thr) g.82789636G>A - VCAN(NM_004385.4):c.634G>A (p.A212T) - VCAN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.645A>G benign r.(?) p.(=) g.82789647A>G - VCAN(NM_004385.4):c.645A>G (p.=) - VCAN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.854C>T VUS r.(?) p.(Ala285Val) g.82808027C>T - VCAN(NM_004385.4):c.854C>T (p.A285V) - VCAN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.888C>T benign r.(?) p.(=) g.82808061C>T - VCAN(NM_004385.4):c.888C>T (p.=) - VCAN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.899C>T benign r.(?) p.(Ser300Leu) g.82808072C>T - VCAN(NM_004385.4):c.899C>T (p.S300L) - VCAN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1042C>T VUS r.(?) p.(Pro348Ser) g.82808215C>T - VCAN(NM_001126336.2):c.1042C>T (p.R348*) - VCAN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1043-10A>G benign r.(=) p.(=) g.82815158A>G - VCAN(NM_004385.4):c.1043-10A>G - VCAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1045A>G benign r.(?) p.(Lys349Glu) g.82815170A>G - VCAN(NM_004385.4):c.1045A>G (p.K349E) - VCAN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1127A>C likely benign r.(?) p.(Asp376Ala) g.82815252A>C - VCAN(NM_004385.4):c.1127A>C (p.(Asp376Ala)) - VCAN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1191C>T likely benign r.(?) p.(=) g.82815316C>T - VCAN(NM_004385.4):c.1191C>T (p.P397=) - VCAN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1227A>G benign r.(?) p.(=) g.82815352A>G - VCAN(NM_004385.4):c.1227A>G (p.T409=) - VCAN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1243A>G benign r.(?) p.(Ile415Val) g.82815368A>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 likely benign r.(?) p.(Ile415Val) g.82815368A>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 likely benign r.(?) p.(=) g.82815406T>C - VCAN(NM_004385.4):c.1281T>C (p.T427=) - VCAN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1283G>A benign r.(?) p.(Gly428Asp) g.82815408G>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 benign r.(?) p.(Gly428Asp) g.82815408G>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 likely benign r.(?) p.(=) g.82815520C>T - VCAN(NM_004385.4):c.1395C>T (p.G465=) - VCAN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1400C>T benign r.(?) p.(Ser467Phe) g.82815525C>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 likely benign r.(?) p.(Ser467Phe) g.82815525C>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 benign r.(?) p.(=) g.82815646C>T - VCAN(NM_004385.4):c.1521C>T (p.=) - VCAN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1523T>A likely benign r.(?) p.(Ile508Asn) g.82815648T>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 likely benign r.(?) p.(Ile508Asn) g.82815648T>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 benign r.(?) p.(Ile508Asn) g.82815648T>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 likely benign r.(?) p.(Arg524Lys) g.82815696G>A - VCAN(NM_004385.4):c.1571G>A (p.R524K) - VCAN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1895C>A likely benign r.(?) p.(Thr632Lys) g.82816020C>A - VCAN(NM_004385.4):c.1895C>A (p.T632K) - VCAN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1895C>T benign r.(?) p.(Thr632Met) g.82816020C>T - VCAN(NM_004385.4):c.1895C>T (p.T632M) - VCAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1931C>T VUS r.(?) p.(Pro644Leu) g.82816056C>T - VCAN(NM_004385.4):c.1931C>T (p.P644L) - VCAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2028A>G benign r.(?) p.(=) g.82816153A>G - VCAN(NM_004385.4):c.2028A>G (p.=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2028A>G likely benign r.(?) p.(=) g.82816153A>G - VCAN(NM_004385.4):c.2028A>G (p.=) - VCAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2065A>G benign r.(?) p.(Thr689Ala) g.82816190A>G - VCAN(NM_004385.4):c.2065A>G (p.T689A) - VCAN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2101G>A VUS r.(?) p.(Asp701Asn) g.82816226G>A - VCAN(NM_004385.4):c.2101G>A (p.D701N) - VCAN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2125A>G VUS r.(?) p.(Lys709Glu) g.82816250A>G - VCAN(NM_004385.4):c.2125A>G (p.K709E) - VCAN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2159T>C likely benign r.(?) p.(Val720Ala) g.82816284T>C - VCAN(NM_004385.4):c.2159T>C (p.V720A) - VCAN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2180C>G likely benign r.(?) p.(Ser727Cys) g.82816305C>G - VCAN(NM_004385.4):c.2180C>G (p.S727C) - VCAN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2220T>C benign r.(?) p.(=) g.82816345T>C - VCAN(NM_004385.4):c.2220T>C (p.=) - VCAN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2234A>C VUS r.(?) p.(Lys745Thr) g.82816359A>C - VCAN(NM_004385.4):c.2234A>C (p.K745T) - VCAN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2378T>C benign r.(?) p.(Leu793Ser) g.82816503T>C - VCAN(NM_004385.4):c.2378T>C (p.L793S) - VCAN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2656A>G VUS r.(?) p.(Thr886Ala) g.82816781A>G - VCAN(NM_004385.4):c.2656A>G (p.T886A) - VCAN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2666C>T benign r.(?) p.(Thr889Ile) g.82816791C>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 likely benign r.(?) p.(Thr889Ile) g.82816791C>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 likely benign r.(?) p.(=) g.82816909A>G - VCAN(NM_004385.4):c.2784A>G (p.V928=) - VCAN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2887C>T benign r.(?) p.(Pro963Ser) g.82817012C>T - VCAN(NM_004385.4):c.2887C>T (p.P963S) - VCAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2891C>T VUS r.(?) p.(Thr964Ile) g.82817016C>T - VCAN(NM_004385.4):c.2891C>T (p.T964I) - VCAN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3076A>G likely benign r.(?) p.(Ile1026Val) g.82817201A>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 likely benign r.(?) p.(Ile1026Val) g.82817201A>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 benign r.(?) p.(Gln1032Glu) g.82817219C>G - VCAN(NM_004385.4):c.3094C>G (p.Q1032E) - VCAN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3192T>A VUS r.(?) p.(Asp1064Glu) g.82817317T>A - VCAN(NM_001164098.1):c.3192T>A (p.(Asp1064Glu)) - VCAN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3528G>A likely benign r.(?) p.(=) g.82817653G>A - VCAN(NM_004385.4):c.3528G>A (p.E1176=) - VCAN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3531T>C likely benign r.(?) p.(=) g.82817656T>C - VCAN(NM_004385.4):c.3531T>C (p.D1177=) - VCAN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3639A>G benign r.(?) p.(=) g.82817764A>G - VCAN(NM_004385.4):c.3639A>G (p.=) - VCAN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3959C>T VUS r.(?) p.(Pro1320Leu) g.82818084C>T - VCAN(NM_004385.4):c.3959C>T (p.P1320L) - VCAN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4003+16C>G benign r.(=) p.(=) g.82818144C>G - VCAN(NM_004385.4):c.4003+16C>G - VCAN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 7i_8i c.4004-2585_9266-609del - r.(4004_9265del)) p.(Arg1336_Gly3089del) g.82830241_82840747del g.83534422_83544928del g.67712_78218del - VCAN_000002 - - - - Germline yes - - 0 - Burin des Roziers Cyril
+/. - c.4004-5T>A pathogenic r.spl? p.? g.82832821T>A - VCAN(NM_004385.4):c.4004-5T>A (p.?) - VCAN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.4004-5T>C pathogenic r.spl? p.? g.82832821T>C - VCAN(NM_004385.2):c.4004-5T>C (r.spl?) - VCAN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.4004-5T>C pathogenic r.spl? p.? g.82832821T>C - VCAN(NM_004385.2):c.4004-5T>C (r.spl?) - VCAN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7i c.4004-2A>G - r.4004_4042del p.Gly1335_Ile1347del 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.4218A>G likely benign r.(?) p.(=) g.82833040A>G - VCAN(NM_004385.4):c.4218A>G (p.P1406=) - VCAN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4323G>A benign r.(?) p.(=) g.82833145G>A - VCAN(NM_004385.4):c.4323G>A (p.=) - VCAN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.4466C>T VUS r.(?) p.(Thr1489Ile) g.82833288C>T - VCAN(NM_004385.4):c.4466C>T (p.T1489I) - VCAN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4547A>G benign r.(?) p.(Lys1516Arg) g.82833369A>G - VCAN(NM_004385.4):c.4547A>G (p.K1516R) - VCAN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4552G>T likely benign r.(?) p.(Gly1518Trp) g.82833374G>T - VCAN(NM_004385.4):c.4552G>T (p.G1518W) - VCAN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4569A>G benign r.(?) p.(=) g.82833391A>G - VCAN(NM_004385.4):c.4569A>G (p.=) - VCAN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4599A>T likely benign r.(?) p.(=) g.82833421A>T - VCAN(NM_004385.4):c.4599A>T (p.=) - VCAN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4604A>G likely benign r.(?) p.(Glu1535Gly) g.82833426A>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 likely benign r.(?) p.(Glu1535Gly) g.82833426A>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 benign r.(?) p.(Pro1588Thr) g.82833584C>A - VCAN(NM_004385.4):c.4762C>A (p.P1588T) - VCAN_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4944T>A likely benign r.(?) p.(Asp1648Glu) g.82833766T>A - VCAN(NM_004385.4):c.4944T>A (p.D1648E) - VCAN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.5187G>A benign r.(?) p.(=) g.82834009G>A - VCAN(NM_004385.4):c.5187G>A (p.=) - VCAN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.5187G>A likely benign r.(?) p.(=) g.82834009G>A - VCAN(NM_004385.4):c.5187G>A (p.=) - VCAN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.5425C>T benign r.(?) p.(His1809Tyr) g.82834247C>T - VCAN(NM_004385.4):c.5425C>T (p.H1809Y) - VCAN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.5477G>A benign r.(?) p.(Arg1826His) g.82834299G>A - VCAN(NM_004385.4):c.5477G>A (p.R1826H) - VCAN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.5526C>T likely benign r.(?) p.(=) g.82834348C>T - VCAN(NM_004385.4):c.5526C>T (p.A1842=) - VCAN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.5574T>C benign r.(?) p.(=) g.82834396T>C - VCAN(NM_004385.4):c.5574T>C (p.=) - VCAN_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.5615C>T VUS r.(?) p.(Pro1872Leu) g.82834437C>T - VCAN(NM_004385.4):c.5615C>T (p.P1872L) - VCAN_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.5808T>C benign r.(?) p.(=) g.82834630T>C - VCAN(NM_004385.4):c.5808T>C (p.=) - VCAN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.5812T>C VUS r.(?) p.(Phe1938Leu) g.82834634T>C - - - VCAN_000078 - - - - Germline - - - 0 - Karine Poirier
?/. - c.5985C>A VUS r.(?) p.(Ser1995Arg) g.82834807C>A - VCAN(NM_004385.4):c.5985C>A (p.S1995R) - VCAN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.6482A>G likely benign r.(?) p.(Lys2161Arg) g.82835304A>G - VCAN(NM_004385.4):c.6482A>G (p.K2161R) - VCAN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.6498T>A VUS r.(?) p.(Asp2166Glu) g.82835320T>A - VCAN(NM_001164097.1):c.3537T>A (p.(Asp1179Glu), p.(Asp2166Glu)) - VCAN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 8_8i c.6525_9265+643delinsAC - r.(6525_9265delinsAC) p.(Ser2176_Gly3089delinsArg) g.82835347_82838730delinsAC g.83539528_83542911delinsAC g.72818_76201delinsAC - VCAN_000001 - - - - Germline - - - 0 - Burin des Roziers Cyril
-/. - c.6723A>G benign r.(?) p.(=) g.82835545A>G - VCAN(NM_004385.4):c.6723A>G (p.=) - VCAN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.6725C>T likely benign r.(?) p.(Pro2242Leu) g.82835547C>T - VCAN(NM_001164097.1):c.3764C>T (p.(Pro1255Leu), p.(Pro2242Leu)) - VCAN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.6727A>G VUS r.(?) p.(Thr2243Ala) g.82835549A>G - - - VCAN_000079 - - - - Germline - - - 0 - Karine Poirier
-?/. - c.6767T>C likely benign r.(?) p.(Leu2256Pro) g.82835589T>C - VCAN(NM_004385.4):c.6767T>C (p.Leu2256Pro) - VCAN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.6767T>C likely benign r.(?) p.(Leu2256Pro) g.82835589T>C - VCAN(NM_004385.4):c.6767T>C (p.Leu2256Pro) - VCAN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.6767T>C VUS r.(?) p.(Leu2256Pro) g.82835589T>C - VCAN(NM_004385.4):c.6767T>C (p.Leu2256Pro) - VCAN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6799C>T VUS r.(?) p.(Pro2267Ser) g.82835621C>T - VCAN(NM_004385.4):c.6799C>T (p.P2267S) - VCAN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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