All transcript variants in gene CLN5

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

75 entries on 1 page. Showing entries 1 - 75.
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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     
-?/. - c.2T>C r.(?) p.(Met1?) - likely benign g.77566088T>C g.76991953T>C CLN5(NM_006493.2):c.2T>C (p.M1?) - CLN5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2T>C r.(?) p.(Met1?) - VUS g.77566088T>C g.76991953T>C CLN5(NM_006493.2):c.2T>C (p.M1?) - CLN5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2T>C r.(?) p.(Met1?) - VUS g.77566088T>C g.76991953T>C CLN5(NM_006493.2):c.2T>C (p.M1?) - CLN5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.4C>T r.(?) p.(Arg2Cys) - benign g.77566090C>T g.76991955C>T CLN5(NM_006493.2):c.4C>T (p.R2C) - CLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.4C>T r.(?) p.(Arg2Cys) - benign g.77566090C>T g.76991955C>T CLN5(NM_006493.2):c.4C>T (p.R2C) - CLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4C>T r.(?) p.(Arg2Cys) - benign g.77566090C>T g.76991955C>T CLN5(NM_006493.2):c.4C>T (p.R2C) - CLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.4C>T r.(?) p.(Arg2Cys) - benign g.77566090C>T g.76991955C>T CLN5(NM_006493.2):c.4C>T (p.R2C) - CLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.7C>T r.(?) p.(Arg3Trp) - VUS g.77566093C>T g.76991958C>T CLN5(NM_006493.2):c.7C>T (p.R3W) - CLN5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.22G>C r.(?) p.(Gly8Arg) - likely benign g.77566108G>C g.76991973G>C CLN5(NM_006493.2):c.22G>C (p.G8R) - CLN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.47_59del r.(?) p.(Gln16ProfsTer30) - pathogenic g.77566133_77566145del - CLN5(NM_006493.2):c.47_59delAGGGGCAAGGCGC (p.Q16Pfs*30) - CLN5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.49G>C r.(?) p.(Gly17Arg) - likely benign g.77566135G>C g.76992000G>C CLN5(NM_006493.2):c.49G>C (p.G17R) - CLN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.49G>C r.(?) p.(Gly17Arg) - likely benign g.77566135G>C g.76992000G>C CLN5(NM_006493.2):c.49G>C (p.G17R) - CLN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.61C>T r.(?) p.(Pro21Ser) - likely benign g.77566147C>T g.76992012C>T CLN5(NM_006493.2):c.61C>T (p.P21S) - CLN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.61C>T r.(?) p.(Pro21Ser) - VUS g.77566147C>T g.76992012C>T CLN5(NM_006493.2):c.61C>T (p.P21S) - CLN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.61C>T r.(?) p.(Pro21Ser) - likely benign g.77566147C>T g.76992012C>T CLN5(NM_006493.2):c.61C>T (p.P21S) - CLN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.61C>T r.(?) p.(Pro21Ser) - likely benign g.77566147C>T g.76992012C>T CLN5(NM_006493.2):c.61C>T (p.P21S) - CLN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.65G>T r.(?) p.(Arg22Leu) - likely benign g.77566151G>T g.76992016G>T CLN5(NM_006493.2):c.65G>T (p.R22L) - CLN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.72A>G r.(?) p.(Gly24=) - benign g.77566158A>G g.76992023A>G CLN5(NM_006493.2):c.72A>G (p.G24=) - CLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.72A>G r.(?) p.(Gly24=) - benign g.77566158A>G g.76992023A>G CLN5(NM_006493.2):c.72A>G (p.G24=) - CLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.117G>T r.(?) p.(Ser39=) - likely benign g.77566203G>T g.76992068G>T CLN5(NM_006493.2):c.117G>T (p.S39=) - CLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.152C>T r.(?) p.(Ala51Val) - benign g.77566238C>T g.76992103C>T CLN5(NM_006493.2):c.152C>T (p.A51V) - CLN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.152C>T r.(?) p.(Ala51Val) - likely benign g.77566238C>T g.76992103C>T CLN5(NM_006493.2):c.152C>T (p.A51V) - CLN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.200_205dup r.(?) p.(Gly67_Ala68dup) - likely benign g.77566286_77566291dup g.76992151_76992156dup CLN5(NM_006493.2):c.200_205dupGCGCGG (p.G67_A68dup) - CLN5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.208C>T r.(?) p.(Arg70Trp) - VUS g.77566294C>T - CLN5(NM_006493.2):c.208C>T (p.R70W) - CLN5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.223T>C r.(?) p.(Trp75Arg) - likely benign g.77566309T>C g.76992174T>C CLN5(NM_001366624.2):c.76T>C (p.W26R), CLN5(NM_006493.2):c.223T>C (p.W75R) - CLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.223T>C r.(?) p.(Trp75Arg) - likely benign g.77566309T>C g.76992174T>C CLN5(NM_001366624.2):c.76T>C (p.W26R), CLN5(NM_006493.2):c.223T>C (p.W75R) - CLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.223T>C r.(?) p.(Trp75Arg) - likely benign g.77566309T>C g.76992174T>C CLN5(NM_001366624.2):c.76T>C (p.W26R), CLN5(NM_006493.2):c.223T>C (p.W75R) - CLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.223T>C r.(?) p.(Trp75Arg) - likely benign g.77566309T>C g.76992174T>C CLN5(NM_001366624.2):c.76T>C (p.W26R), CLN5(NM_006493.2):c.223T>C (p.W75R) - CLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.234C>G r.(?) p.(Ala78=) - benign g.77566320C>G g.76992185C>G CLN5(NM_006493.2):c.234C>G (p.A78=) - CLN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.234C>G r.(?) p.(Ala78=) - benign g.77566320C>G g.76992185C>G CLN5(NM_006493.2):c.234C>G (p.A78=) - CLN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 c.270G>A r.(?) p.(Trp90*) ACMG likely pathogenic g.77566356G>A - - - CLN5_000044 - - - - Germline - - - 0 - Corina-Marcela Rus
+?/. 1 c.270G>A r.(?) p.(Trp90*) ACMG likely pathogenic g.77566356G>A - - - CLN5_000044 - - - - Germline - - - 0 - Corina-Marcela Rus
-?/. - c.275G>A r.(?) p.(Arg92Gln) - likely benign g.77566361G>A g.76992226G>A CLN5(NM_006493.2):c.275G>A (p.R92Q) - CLN5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.320+8C>T r.(=) p.(=) - benign g.77566414C>T g.76992279C>T CLN5(NM_006493.2):c.320+8C>T - CLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.320+18C>T r.(=) p.(=) - benign g.77566424C>T g.76992289C>T CLN5(NM_006493.2):c.320+18C>T - CLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.320+18C>T r.(=) p.(=) - benign g.77566424C>T g.76992289C>T CLN5(NM_006493.2):c.320+18C>T - CLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.320+18C>T r.(=) p.(=) - benign g.77566424C>T g.76992289C>T CLN5(NM_006493.2):c.320+18C>T - CLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.320+18C>T r.(=) p.(=) - benign g.77566424C>T g.76992289C>T CLN5(NM_006493.2):c.320+18C>T - CLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.321-168A>G r.(=) p.(=) - likely benign g.77569030A>G g.76994895A>G CLN5(NM_006493.2):c.321-168A>G - CLN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.335G>A r.(?) p.(Arg112His) - VUS g.77569212G>A g.76995077G>A - - CLN5_000035 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs104894386 Germline - 2/2790 individuals - 0 - Mohammed Faruq
+?/. 2 c.363del r.(?) p.(Lys122Serfs*41) ACMG likely pathogenic g.77569240del - - - CLN5_000021 - - - - Germline - - - 0 - Corina-Marcela Rus
+?/. 2 c.439C>T r.(?) p.(Gln147*) ACMG likely pathogenic g.77569316C>T - - - CLN5_000043 - - - - Germline - - - 0 - Corina-Marcela Rus
-/. - c.528T>G r.(?) p.(Thr176=) - benign g.77570078T>G g.76995943T>G CLN5(NM_006493.2):c.528T>G (p.T176=) - CLN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.528T>G r.(?) p.(Thr176=) - likely benign g.77570078T>G g.76995943T>G CLN5(NM_006493.2):c.528T>G (p.T176=) - CLN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.528T>G r.(=) p.(=) - likely benign g.77570078T>G g.76995943T>G - - CLN5_000012 101 heterozygous; Clinindb (India) Faruq 2020, submtted - rs34481987 Germline - 101/2793 individuals - 0 - Mohammed Faruq
-?/. - c.528T>G r.(=) p.(=) - likely benign g.77570078T>G g.76995943T>G - - CLN5_000012 3 homozygous; Clinindb (India) Faruq 2020, submtted - rs34481987 Germline - 3/2793 individuals - 0 - Mohammed Faruq
+?/. - c.578G>A r.(?) p.(Cys193Tyr) - likely pathogenic g.77570128G>A g.76995993G>A - - CLN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.595C>T r.(?) p.(Arg199Ter) - pathogenic g.77570145C>T g.76996010C>T CLN5(NM_006493.2):c.595C>T (p.R199*) - CLN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.595C>T r.(?) p.(Arg199Ter) - pathogenic g.77570145C>T g.76996010C>T CLN5(NM_006493.2):c.595C>T (p.R199*) - CLN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.595C>T r.(?) p.(Arg199Ter) - likely pathogenic g.77570145C>T g.76996010C>T CLN5(NM_006493.2):c.595C>T (p.R199*) - CLN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.606G>A r.(?) p.(Met202Ile) - likely benign g.77570156G>A g.76996021G>A CLN5(NM_006493.2):c.606G>A (p.M202I) - CLN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.606G>A r.(?) p.(Met202Ile) - likely benign g.77570156G>A g.76996021G>A CLN5(NM_006493.2):c.606G>A (p.M202I) - CLN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.657_661dup r.(?) p.(Asp221Valfs*12) ACMG likely pathogenic g.77570207_77570211dup - - - CLN5_000042 - - - - Germline - - - 0 - Corina-Marcela Rus
?/. - c.691G>A r.(?) p.(Val231Ile) - VUS g.77570241G>A g.76996106G>A CLN5(NM_006493.2):c.691G>A (p.V231I) - CLN5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3i c.712+1G>A r.spl? p.? ACMG likely pathogenic g.77570263G>A - - - CLN5_000041 - - - - Germline - - - 0 - Corina-Marcela Rus
-/. - c.712+39C>A r.(=) p.(=) - benign g.77570301C>A g.76996166C>A CLN5(NM_006493.2):c.712+39C>A - CLN5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.712+40A>C r.(=) p.(=) - likely benign g.77570302A>C g.76996167A>C CLN5(NM_006493.2):c.712+40A>C - CLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.726C>A r.(?) p.(Asn242Lys) - likely benign g.77574606C>A g.77000471C>A CLN5(NM_006493.2):c.726C>A (p.N242K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.726C>A r.(?) p.(Asn242Lys) - likely benign g.77574606C>A g.77000471C>A CLN5(NM_006493.2):c.726C>A (p.N242K) - CLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.726C>A r.(?) p.(Asn242Lys) - benign g.77574606C>A g.77000471C>A - - CLN5_000016 60 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138611001 Germline - 60/2795 individuals - 0 - Mohammed Faruq
-?/. - c.765A>C r.(?) p.(Gly255=) - likely benign g.77574645A>C g.77000510A>C CLN5(NM_006493.2):c.765A>C (p.G255=) - CLN5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 4 c.822G>A r.(?) p.(Trp274*) ACMG likely pathogenic g.77574702G>A - - - CLN5_000040 - - - - Germline - - - 0 - Corina-Marcela Rus
?/. - c.830C>T r.(?) p.(Ser277Phe) - VUS g.77574710C>T g.77000575C>T CLN5(NM_006493.2):c.830C>T (p.S277F) - CLN5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.835G>A r.(?) p.(Asp279Asn) - pathogenic g.77574715G>A g.77000580G>A - - CLN5_000036 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs28940280 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1072T>C r.(?) p.(Leu358=) - likely benign g.77574952T>C g.77000817T>C CLN5(NM_006493.2):c.1072T>C (p.L358=) - CLN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1103A>G r.(?) p.(Lys368Arg) - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1103A>G r.(?) p.(Lys368Arg) - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1103A>G r.(?) p.(Lys368Arg) - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1103A>G r.(?) p.(Lys368Arg) - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1103A>G r.(?) p.(Lys368Arg) - benign g.77574983A>G g.77000848A>G CLN5(NM_006493.2):c.1103A>G (p.K368R) - CLN5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1149G>T r.(?) p.(Met383Ile) - VUS g.77575029G>T g.77000894G>T CLN5(NM_006493.2):c.1149G>T (p.M383I) - CLN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1166A>C r.(?) p.(Lys389Thr) - VUS g.77575046A>C g.77000911A>C CLN5(NM_006493.2):c.1166A>C (p.K389T) - CLN5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1185C>T r.(?) p.(Ile395=) - likely benign g.77575065C>T g.77000930C>T CLN5(NM_006493.2):c.1185C>T (p.I395=) - CLN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1188T>C r.(?) p.(Pro396=) - likely benign g.77575068T>C g.77000933T>C CLN5(NM_006493.2):c.1188T>C (p.P396=) - CLN5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1192C>T r.(?) p.(Pro398Ser) - VUS g.77575072C>T g.77000937C>T - - CLN5_000037 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41287036 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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