Unique variants in gene CLN5

An NCL gene variant database
Information The variants shown are described using the NM_006493.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
Legend  

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     
-?/., ?/. 3 - c.2T>C likely benign, VUS r.(?) p.? g.77566088T>C - CLN5(NM_006493.2):c.2T>C (p.M1?) - CLN5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 4 - c.4C>T benign r.(?) p.(Arg2Cys) g.77566090C>T - CLN5(NM_006493.2):c.4C>T (p.R2C) - CLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.7C>T VUS r.(?) p.(Arg3Trp) g.77566093C>T - CLN5(NM_006493.2):c.7C>T (p.R3W) - CLN5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.22G>C likely benign r.(?) p.(Gly8Arg) g.77566108G>C - CLN5(NM_006493.2):c.22G>C (p.G8R) - CLN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.49G>C likely benign r.(?) p.(Gly17Arg) g.77566135G>C - CLN5(NM_006493.2):c.49G>C (p.G17R) - CLN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/., ?/. 4 - c.61C>T likely benign, VUS r.(?) p.(Pro21Ser) g.77566147C>T - CLN5(NM_006493.2):c.61C>T (p.P21S) - CLN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.65G>T likely benign r.(?) p.(Arg22Leu) g.77566151G>T - CLN5(NM_006493.2):c.65G>T (p.R22L) - CLN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.72A>G benign r.(?) p.(=) g.77566158A>G - CLN5(NM_006493.2):c.72A>G (p.G24=) - CLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/. 1 - c.117G>T likely benign r.(?) p.(=) g.77566203G>T - CLN5(NM_006493.2):c.117G>T (p.S39=) - CLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.152C>T benign, likely benign r.(?) p.(Ala51Val) g.77566238C>T - CLN5(NM_006493.2):c.152C>T (p.A51V) - CLN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.200_205dup likely benign r.(?) p.(Gly67_Ala68dup) g.77566286_77566291dup - CLN5(NM_006493.2):c.200_205dupGCGCGG (p.G67_A68dup) - CLN5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.223T>C likely benign r.(?) p.(Trp75Arg) g.77566309T>C - CLN5(NM_006493.2):c.223T>C (p.W75R) - CLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 2 - c.234C>G benign r.(?) p.(=) g.77566320C>G - CLN5(NM_006493.2):c.234C>G (p.A78=) - CLN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 1 - c.320+8C>T benign r.(=) p.(=) g.77566414C>T - CLN5(NM_006493.2):c.320+8C>T - CLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 4 - c.320+18C>T benign r.(=) p.(=) g.77566424C>T - CLN5(NM_006493.2):c.320+18C>T - CLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.321-168A>G likely benign r.(=) p.(=) g.77569030A>G - CLN5(NM_006493.2):c.321-168A>G - CLN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.528T>G benign, likely benign r.(?) p.(=) g.77570078T>G - CLN5(NM_006493.2):c.528T>G (p.T176=) - CLN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Utrecht
+?/. 1 - c.578G>A likely pathogenic r.(?) p.(Cys193Tyr) g.77570128G>A - - - CLN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 3 - c.595C>T pathogenic, likely pathogenic r.(?) p.(Arg199*) g.77570145C>T - CLN5(NM_006493.2):c.595C>T (p.R199*) - CLN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.606G>A likely benign r.(?) p.(Met202Ile) g.77570156G>A - CLN5(NM_006493.2):c.606G>A (p.M202I) - CLN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/. 1 - c.691G>A VUS r.(?) p.(Val231Ile) g.77570241G>A - CLN5(NM_006493.2):c.691G>A (p.V231I) - CLN5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.712+39C>A benign r.(=) p.(=) g.77570301C>A - CLN5(NM_006493.2):c.712+39C>A - CLN5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.712+40A>C likely benign r.(=) p.(=) g.77570302A>C - CLN5(NM_006493.2):c.712+40A>C - CLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.726C>A likely benign r.(?) p.(Asn242Lys) g.77574606C>A - CLN5(NM_006493.2):c.726C>A (p.N242K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.765A>C likely benign r.(?) p.(=) g.77574645A>C - CLN5(NM_006493.2):c.765A>C (p.G255=) - CLN5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1072T>C likely benign r.(?) p.(=) g.77574952T>C - CLN5(NM_006493.2):c.1072T>C (p.L358=) - CLN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 5 - c.1103A>G benign r.(?) p.(Lys368Arg) g.77574983A>G - CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.1149G>T VUS r.(?) p.(Met383Ile) g.77575029G>T - CLN5(NM_006493.2):c.1149G>T (p.M383I) - CLN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1166A>C VUS r.(?) p.(Lys389Thr) g.77575046A>C - CLN5(NM_006493.2):c.1166A>C (p.K389T) - CLN5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1185C>T likely benign r.(?) p.(=) g.77575065C>T - CLN5(NM_006493.2):c.1185C>T (p.I395=) - CLN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1188T>C likely benign r.(?) p.(=) g.77575068T>C - CLN5(NM_006493.2):c.1188T>C (p.P396=) - CLN5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend