Unique 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.

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

Reported     

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 _1 c.-648A>G - r.(=) p.(=) g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.71-18A>G benign r.(=) p.(=) g.82785899A>G - VCAN:c.71-18A>G - VCAN_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.170A>C VUS r.(?) p.(Asn57Thr) g.82786016A>C - VCAN:c.170A>C (N57T) - VCAN_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.249C>A likely benign r.(=) p.(=) g.82786095C>A - VCAN:c.249C>A (V83=) - VCAN_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.348T>C benign r.(=) p.(=) g.82786194T>C - VCAN:c.348T>C (=) - VCAN_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.393C>T benign r.(=) p.(=) g.82786239C>T - VCAN:c.393C>T (=) - VCAN_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.468G>A likely benign r.(=) p.(=) g.82789387G>A - VCAN:c.468G>A (=) - VCAN_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.574G>A VUS r.(?) p.(Gly192Arg) g.82789493G>A - VCAN:c.574G>A (G192R) - VCAN_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.634G>A likely benign r.(?) p.(Ala212Thr) g.82789636G>A - VCAN:c.634G>A (A212T) - VCAN_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.645A>G benign r.(=) p.(=) g.82789647A>G - VCAN:c.645A>G (=) - VCAN_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.854C>T VUS r.(?) p.(Ala285Val) g.82808027C>T - VCAN:c.854C>T (A285V) - VCAN_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.899C>T benign r.(?) p.(Ser300Leu) g.82808072C>T - VCAN:c.899C>T (S300L) - VCAN_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1045A>G benign r.(?) p.(Lys349Glu) g.82815170A>G - VCAN:c.1045A>G (K349E) - VCAN_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1243A>G benign r.(?) p.(Ile415Val) g.82815368A>G - VCAN:c.1243A>G (I415V) - VCAN_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1281T>C likely benign r.(=) p.(=) g.82815406T>C - VCAN:c.1281T>C (T427=) - VCAN_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1283G>A benign r.(?) p.(Gly428Asp) g.82815408G>A - VCAN:c.1283G>A (G428D) - VCAN_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Groningen
-?/. 1 - c.1395C>T likely benign r.(=) p.(=) g.82815520C>T - VCAN:c.1395C>T (G465=) - VCAN_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1400C>T benign r.(?) p.(Ser467Phe) g.82815525C>T - VCAN:c.1400C>T (S467F) - VCAN_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1521C>T benign r.(=) p.(=) g.82815646C>T - VCAN:c.1521C>T (=) - VCAN_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1571G>A likely benign r.(?) p.(Arg524Lys) g.82815696G>A - VCAN:c.1571G>A (R524K) - VCAN_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1895C>T benign r.(?) p.(Thr632Met) g.82816020C>T - VCAN:c.1895C>T (T632M) - VCAN_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1931C>T VUS r.(?) p.(Pro644Leu) g.82816056C>T - VCAN:c.1931C>T (P644L) - VCAN_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2028A>G benign r.(=) p.(=) g.82816153A>G - VCAN:c.2028A>G (=) - VCAN_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2125A>G VUS r.(?) p.(Lys709Glu) g.82816250A>G - VCAN:c.2125A>G (K709E) - VCAN_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2159T>C likely benign r.(?) p.(Val720Ala) g.82816284T>C - VCAN:c.2159T>C (V720A) - VCAN_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2666C>T benign r.(?) p.(Thr889Ile) g.82816791C>T - VCAN:c.2666C>T (T889I) - VCAN_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2887C>T benign r.(?) p.(Pro963Ser) g.82817012C>T - VCAN:c.2887C>T (P963S) - VCAN_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3076A>G likely benign r.(?) p.(Ile1026Val) g.82817201A>G - VCAN:c.3076A>G (I1026V) - VCAN_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3528G>A likely benign r.(=) p.(=) g.82817653G>A - VCAN:c.3528G>A (E1176=) - VCAN_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4003+16C>G benign r.(=) p.(=) g.82818144C>G - VCAN:c.4003+16C>G - VCAN_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 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 - - - - Burin des Roziers Cyril
+/. 1 - c.4004-5T>A pathogenic r.spl? p.? g.82832821T>A - VCAN:NM_004385.4:c.4004-5T>A (?) - VCAN_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - 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; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 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 - - - - Johan den Dunnen
-/. 1 - c.4323G>A benign r.(=) p.(=) g.82833145G>A - VCAN:c.4323G>A (=) - VCAN_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.4547A>G benign r.(?) p.(Lys1516Arg) g.82833369A>G - VCAN:c.4547A>G (K1516R) - VCAN_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.4569A>G benign r.(=) p.(=) g.82833391A>G - VCAN:c.4569A>G (=) - VCAN_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.4604A>G likely benign r.(?) p.(Glu1535Gly) g.82833426A>G - VCAN:c.4604A>G (E1535G) - VCAN_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4944T>A likely benign r.(?) p.(Asp1648Glu) g.82833766T>A - VCAN:c.4944T>A (D1648E) - VCAN_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.5187G>A likely benign, benign r.(=) p.(=) g.82834009G>A - VCAN:c.5187G>A (=) - VCAN_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.5425C>T benign r.(?) p.(His1809Tyr) g.82834247C>T - VCAN:c.5425C>T (H1809Y) - VCAN_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.5477G>A benign r.(?) p.(Arg1826His) g.82834299G>A - VCAN:c.5477G>A (R1826H) - VCAN_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.5526C>T likely benign r.(=) p.(=) g.82834348C>T - VCAN:c.5526C>T (A1842=) - VCAN_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.5808T>C benign r.(=) p.(=) g.82834630T>C - VCAN:c.5808T>C (=) - VCAN_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.5985C>A VUS r.(?) p.(Ser1995Arg) g.82834807C>A - VCAN:c.5985C>A (S1995R) - VCAN_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.6498T>A likely benign r.(?) p.(Asp2166Glu) g.82835320T>A - VCAN:NM_001164097.1:c.3537T>A, NM_004385.4:c.6498T>A - VCAN_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 8_8i c.6525_9265+643delinsAC - r.(6525_9265delinsAC) p.(Ser2176_Gly3089delinsArg) g.82835347_82838730delinsAC g.83539528_83542911delinsAC g.72818_76201delinsAC - VCAN_000001 - - - - Germline - - - - - Burin des Roziers Cyril
-/. 1 - c.6723A>G benign r.(=) p.(=) g.82835545A>G - VCAN:c.6723A>G (=) - VCAN_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.6725C>T likely benign r.(?) p.(Pro2242Leu) g.82835547C>T - VCAN:NM_001164097.1:c.3764C>T, NM_004385.4:c.6725C>T - VCAN_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6767T>C likely benign r.(?) p.(Leu2256Pro) g.82835589T>C - VCAN:NM_004385.4:c.6767T>C (Leu2256Pro) - VCAN_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.6799C>T VUS r.(?) p.(Pro2267Ser) g.82835621C>T - VCAN:c.6799C>T (P2267S) - VCAN_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.6902T>A benign r.(?) p.(Phe2301Tyr) g.82835724T>A - VCAN:c.6902T>A (F2301Y) - VCAN_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.6902T>G likely benign r.(?) p.(Phe2301Cys) g.82835724T>G - VCAN:c.6902T>G (F2301C) - VCAN_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6945A>G likely benign r.(=) p.(=) g.82835767A>G - VCAN:c.6945A>G (V2315=) - VCAN_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.7038G>T benign r.(=) p.(=) g.82835860G>T - VCAN:c.7038G>T (=) - VCAN_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.7176C>T likely benign r.(=) p.(=) g.82835998C>T - VCAN:c.7176C>T (N2392=) - VCAN_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7283C>T likely benign r.(?) p.(Pro2428Leu) g.82836105C>T - VCAN:c.7283C>T (P2428L) - VCAN_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.7419C>T benign, likely benign r.(=) p.(=) g.82836241C>T - VCAN:c.7419C>T (=) - VCAN_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., -/. 2 - c.7551C>T likely benign, benign r.(=) p.(=) g.82836373C>T - VCAN:c.7551C>T (=) - VCAN_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.7884C>A VUS r.(?) p.(Asn2628Lys) g.82836706C>A - VCAN:c.7884C>A (N2628K) - VCAN_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.7954G>C likely benign r.(?) p.(Asp2652His) g.82836776G>C - VCAN:c.7954G>C (D2652H) - VCAN_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.8272G>C VUS r.(?) p.(Gly2758Arg) g.82837094G>C - VCAN:c.8272G>C (G2758R) - VCAN_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.8278T>C VUS r.(?) p.(Ser2760Pro) g.82837100T>C - VCAN:c.8278T>C (S2760P) - VCAN_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8448A>T likely benign r.(=) p.(=) g.82837270A>T - VCAN:c.8448A>T (T2816=) - VCAN_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8476T>C likely benign r.(?) p.(Ser2826Pro) g.82837298T>C - VCAN:c.8476T>C (S2826P) - VCAN_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8621C>T likely benign r.(?) p.(Ala2874Val) g.82837443C>T - VCAN:c.8621C>T (A2874V) - VCAN_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.8764G>A likely benign r.(?) p.(Ala2922Thr) g.82837586G>A - VCAN:c.8764G>A (A2922T) - VCAN_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.8809G>T benign r.(?) p.(Asp2937Tyr) g.82837631G>T - VCAN:c.8809G>T (D2937Y) - VCAN_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.8919G>T VUS r.(?) p.(Gln2973His) g.82837741G>T - VCAN:c.8919G>T (Q2973H) - VCAN_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.9075G>A benign r.(=) p.(=) g.82837897G>A - VCAN:c.9075G>A (=) - VCAN_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.9234G>A likely benign r.(=) p.(=) g.82838056G>A - VCAN:c.9234G>A (E3078=) - VCAN_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 8i c.9265+1G>A - r.9245_9265del p.Thr3083_Gly3089del g.82838088G>A g.83542269G>A - - VCAN_000004 1 more item PubMed: Kloeckener-Gruissem 2006, OMIM:var0002, PubMed: Kloeckener-Gruissem 2006 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.9379+7T>C benign r.(=) p.(=) g.82841476T>C - VCAN:c.9379+7T>C - VCAN_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.9499G>A VUS r.(?) p.(Glu3167Lys) g.82849188G>A - VCAN:c.9499G>A (E3167K) - VCAN_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.9560G>A VUS r.(?) p.(Arg3187Gln) g.82849249G>A - VCAN:c.9560G>A (R3187Q) - VCAN_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.9882C>T benign r.(=) p.(=) g.82875800C>T - VCAN:c.9882C>T (=) - VCAN_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Groningen
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