Full data view for gene CLN6

An NCL gene variant database
Information The variants shown are described using the NM_017882.2 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
./. - c.-3677160_*871395del r.? p.? Unknown - pathogenic g.67629083_72199082del - - - MAP2K5_000011 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 1 c.-158_(83+1_84-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(68510989_68521839)_(68522080_?)del - -158_83del - CLN6_000034 - - - - Germline - - - - - DNA MLPA - - CLN6 ? - - M yes United Arab Emirates - - - - - 1 Corina-Marcela Rus
+?/. - c.1_11del r.(?) p.(Met1?) Both (homozygous) ACMG likely pathogenic g.68521913_68521923del g.68229575_68229585del - - CLN6_000004 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CLN6 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.5A>G r.(?) p.(Glu2Gly) Unknown - VUS g.68521918T>C g.68229580T>C CLN6(NM_017882.2):c.5A>G (p.E2G), CLN6(NM_017882.3):c.5A>G (p.E2G) - CLN6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5A>G r.(?) p.(Glu2Gly) Unknown - likely benign g.68521918T>C g.68229580T>C - - CLN6_000019 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.5A>G r.(?) p.(Glu2Gly) Unknown - likely benign g.68521918T>C - CLN6(NM_017882.2):c.5A>G (p.E2G), CLN6(NM_017882.3):c.5A>G (p.E2G) - CLN6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11C>T r.(?) p.(Thr4Met) Unknown - VUS g.68521912G>A g.68229574G>A CLN6(NM_017882.3):c.11C>T (p.T4M) - CLN6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13C>T r.(?) p.(Arg5Trp) Unknown - VUS g.68521910G>A - CLN6(NM_017882.3):c.13C>T (p.R5W) - CLN6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Ala12Thr) Unknown - likely benign g.68521889C>T g.68229551C>T CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T) - CLN6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Ala12Thr) Unknown - likely benign g.68521889C>T g.68229551C>T CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T) - CLN6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Ala12Thr) Unknown - likely benign g.68521889C>T g.68229551C>T CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T) - CLN6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42C>A r.(?) p.(=) Unknown - likely benign g.68521881G>T - CLN6(NM_017882.3):c.42C>A (p.G14=) - CLN6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>A r.(?) p.(Gly17Ser) Unknown - likely benign g.68521874C>T g.68229536C>T CLN6(NM_017882.2):c.49G>A (p.G17S) - CLN6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53C>T r.(?) p.(Ala18Val) Unknown - likely benign g.68521870G>A g.68229532G>A CLN6(NM_017882.2):c.53C>T (p.(Ala18Val)) - CLN6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64G>T r.(?) p.(Ala22Ser) Unknown - likely benign g.68521859C>A g.68229521C>A CLN6(NM_017882.2):c.64G>T (p.(Ala22Ser)) - CLN6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.83G>A r.(?) p.(Arg28Lys) Unknown - likely pathogenic g.68521840C>T g.68229502C>T - - CLN6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Ala34Thr) Unknown - VUS g.68510972C>T g.68218634C>T CLN6(NM_017882.2):c.100G>A (p.A34T) - CLN6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103G>A r.(?) p.(Asp35Asn) Unknown - likely benign g.68510969C>T - CLN6(NM_017882.2):c.103G>A (p.D35N) - CLN6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.144G>A r.(?) p.(Trp48*) Both (homozygous) - likely pathogenic (recessive) g.68510928C>T - - - CLN6_000033 - - - - Germline - - - - - DNA SEQ-NG - - CLN6 ? - - M ? Jordan - - - - - 1 Corina-Marcela Rus
+?/. - c.198+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.68510873C>T g.68218535C>T c.198+1G>A - CLN6_000055 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 21 PubMed: Jilani 2019 - F yes - - - - - - 1 LOVD
-/. - c.199-104dup r.(=) p.(=) Unknown - benign g.68506835dup g.68214497dup CLN6(NM_017882.3):c.199-104dupG - CLN6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199-5C>T r.spl? p.? Unknown - likely benign g.68506731G>A - CLN6(NM_017882.2):c.199-5C>T, CLN6(NM_017882.3):c.199-5C>T - CLN6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199-5C>T r.spl? p.? Unknown - likely benign g.68506731G>A - CLN6(NM_017882.2):c.199-5C>T, CLN6(NM_017882.3):c.199-5C>T - CLN6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>G r.(?) p.(Leu71=) Unknown - likely benign g.68506712G>C g.68214374G>C CLN6(NM_017882.2):c.213C>G (p.L71=) - CLN6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>C r.(?) p.(Glu72Gln) Unknown - likely benign g.68506711C>G g.68214373C>G CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q) - CLN6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.214G>C r.(?) p.(Glu72Gln) Unknown - benign g.68506711C>G g.68214373C>G CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q) - CLN6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214G>C r.(?) p.(Glu72Gln) Unknown - likely benign g.68506711C>G g.68214373C>G CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q) - CLN6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241G>T r.(?) p.(Val81Phe) Unknown - VUS g.68506684C>A g.68214346C>A CLN6(NM_017882.3):c.241G>T (p.V81F) - CLN6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.244G>T r.(?) p.(Gly82Trp) Unknown - likely pathogenic g.68506681C>A g.68214343C>A 3 compound heterozygous AR CLN6 c.244G>T p.(G82W) c.892G>A (Sun et al., 2018) p.(E298K) - CLN6_000054 heterozygous PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood WES retinal disease 3 PubMed: Ren 2019 AR M no China - - - - - 1 LOVD
+/. 3 c.252C>G r.(?) p.(Tyr84*) Maternal (confirmed) - pathogenic g.68506673G>C g.68214335G>C Y84X - CLN6_000001 - PubMed: Faruq 2014, Journal: Faruq 2014 - - Germline yes - - - - DNA SEQ-NG - - CLN6 - PubMed: Faruq 2014, Journal: Faruq 2014 2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs F;M no India - - - - - 4 Johan den Dunnen
+?/. 3 c.257A>G r.(?) p.(His86Arg) Both (homozygous) - likely pathogenic (recessive) g.68506668T>C - - - CLN6_000035 - - - - Germline - - - - - DNA SEQ-NG - CES CLN6 ? - - M ? Egypt - - - - - 1 Corina-Marcela Rus
+?/. 3 c.257A>G r.(?) p.(His86Arg) Both (homozygous) - likely pathogenic (recessive) g.68506668T>C - - - CLN6_000035 - - - - Germline - - - - - DNA SEQ-NG - WES CLN6 ? - - F yes Egypt - - - - - 1 Corina-Marcela Rus
+?/. 3 c.257A>G r.(?) p.(His86Arg) Both (homozygous) - likely pathogenic (recessive) g.68506668T>C - - - CLN6_000035 - - - - Germline - - - - - DNA SEQ-NG - - CLN6 ? - - M ? Egypt - - - - - 1 Corina-Marcela Rus
+?/. 3 c.257A>G r.(?) p.(His86Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.68506668T>C - - - CLN6_000035 - - - - Germline - - - - - DNA SEQ-NG - WES CLN6 ? - - M yes Egypt - - - - - 1 Corina-Marcela Rus
?/. - c.259A>G r.(?) p.(Met87Val) Unknown - VUS g.68506666T>C g.68214328T>C CLN6(NM_017882.2):c.259A>G (p.M87V) - CLN6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259A>G r.(?) p.(Met87Val) Unknown - VUS g.68506666T>C - CLN6(NM_017882.2):c.259A>G (p.M87V) - CLN6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.296A>G r.(?) p.(Lys99Arg) Both (homozygous) ACMG likely pathogenic g.68506629T>C g.68214291T>C c.296A>G, p.Lys99Arg - CLN6_000053 Homozygous PubMed: Dozieres-Puyravel 2020 - - Germline ? - - - - ? ? - - CLN 6A PubMed: Dozieres-Puyravel 2020 - ? - France - - - - - 1 LOVD
-?/. - c.298-6C>T r.(=) p.(=) Unknown - likely benign g.68504207G>A g.68211869G>A CLN6(NM_017882.3):c.298-6C>T - CLN6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.298-6C>T r.(=) p.(=) Unknown - benign g.68504207G>A - CLN6(NM_017882.3):c.298-6C>T - CLN6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>A r.(?) p.(Glu102Lys) Parent #1 - VUS g.68504195C>T g.68211857C>T - - CLN6_000032 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052352 Germline - 2/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.307C>T r.(?) p.(Arg103Trp) Parent #1 - VUS g.68504192G>A g.68211854G>A - - CLN6_000031 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201095412 Germline - 3/2748 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.308G>A r.(?) p.(Arg103Gln) Parent #1 - VUS g.68504191C>T g.68211853C>T - - CLN6_000030 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs154774634 Germline - 11/2715 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - VUS g.68504183G>A g.68211845G>A - - CLN6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339G>A r.(?) p.(Thr113=) Unknown - likely benign g.68504160C>T g.68211822C>T CLN6(NM_017882.3):c.339G>A (p.T113=) - CLN6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395_396del r.(?) p.(Ser132Cysfs*18) Unknown - pathogenic g.68504105_68504106del - CLN6(NM_017882.2):c.395_396delCT (p.S132Cfs*18) - CLN6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.396dup r.(?) (p.Val133fs) Both (homozygous) - likely pathogenic g.68504103dup g.68211765dup c.396dupT, (p.Val133fs) - CLN6_000056 homozygous PubMed: Kozina 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole exome sequencing CLN 2 PubMed: Kozina 2020 - M no Russia - - - - - 1 LOVD
+?/. 4 c.397_398del r.(?) p.(Val133Glnfs*17) Unknown ACMG likely pathogenic g.68504101_68504102del - - - CLN6_000036 - - - - Germline - - - - - DNA SEQ - - CLN6 ? - - F yes Iran - - - - - 1 Corina-Marcela Rus
+?/. 4 c.397_398del r.(?) p.(Val133Glnfs*17) Both (homozygous) ACMG likely pathogenic (recessive) g.68504101_68504102del - - - CLN6_000036 - - - - Germline - - - - - DNA SEQ - - CLN6 ? - - M yes Iran - - - - - 1 Corina-Marcela Rus
+/. - c.407G>A r.(?) p.(Arg136His) Both (homozygous) - pathogenic g.68504092C>T g.68211754C>T NM_017882: c.G407A; p.R136H - CLN6_000006 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5270 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
+/. - c.424dup r.(?) p.(Tyr142Leufs*9) Unknown - pathogenic g.68504075dup - - - CLN6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.443T>A r.(?) p.(Val148Asp) Both (homozygous) - pathogenic (recessive) g.68504056A>T g.68211718A>T - - CLN6_000040 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio27 PubMed: Zhu 2015 - M - Israel - - - - - 1 Johan den Dunnen
+?/. - c.445C>T r.(?) p.(Arg149Cys) Both (homozygous) - likely pathogenic g.68504054G>A g.68211716G>A c.445C>T, p.(Arg149Cys) - CLN6_000052 homozygous PubMed: Jilani 2019 - - Germline yes - - - - DNA SEQ - - CLN 22b PubMed: Jilani 2019 proband 21, family b M ? - - 44y - - - 1 LOVD
+?/. - c.445C>T r.(?) p.(Arg149Cys) Both (homozygous) - likely pathogenic g.68504054G>A g.68211716G>A c.445C>T, p.(Arg149Cys) - CLN6_000052 homozygous PubMed: Jilani 2019 - - Germline yes - - - - DNA SEQ - - CLN 23b PubMed: Jilani 2019 sibling of proband 21, family b F ? - - - - - - 1 LOVD
+?/. - c.445C>T r.(?) p.(Arg149Cys) Both (homozygous) - likely pathogenic g.68504054G>A g.68211716G>A c.445C>T, p.(Arg149Cys) - CLN6_000052 homozygous PubMed: Jilani 2019 - - Germline yes - - - - DNA SEQ - - CLN 24b PubMed: Jilani 2019 sibling of proband 21, family b F ? - - 40y - - - 1 LOVD
?/. - c.446G>A r.(?) p.(Arg149His) Unknown - VUS g.68504053C>T g.68211715C>T CLN6(NM_017882.2):c.446G>A (p.R149H) - CLN6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472A>C r.(?) p.(Lys158Gln) Unknown - VUS g.68504027T>G - CLN6(NM_017882.2):c.472A>C (p.K158Q) - CLN6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.476C>T r.(?) p.(Pro159Leu) Both (homozygous) - likely pathogenic g.68504023G>A g.68211685G>A - - CLN6_000048 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3555 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.477G>A r.(?) p.(Pro159=) Unknown - likely benign g.68504022C>T - CLN6(NM_017882.2):c.477G>A (p.P159=) - CLN6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.486+2T>A r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.68504011A>T - - - CLN6_000037 - - - - Germline - - - - - DNA SEQ-NG - - CLN6 ? - - F ? Egypt - - - - - 1 Corina-Marcela Rus
+?/. 4i c.486+2T>C r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.68504011A>G - - - CLN6_000039 - - - - Germline - - - - - DNA SEQ-NG - WES CLN6 ? - - M yes Tunisia - - - - - 1 Corina-Marcela Rus
-?/. - c.486+8C>T r.(=) p.(=) Unknown - likely benign g.68504005G>A g.68211667G>A CLN6(NM_017882.3):c.486+8C>T - CLN6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.486+8C>T r.(=) p.(=) Parent #1 - likely benign g.68504005G>A g.68211667G>A - - CLN6_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149692285 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.486+28T>C r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.68503985A>G - - - CLN6_000045 ACMG PM2, PM3, PP4, BP4; The patient's electroclinical phenotype is consistent with previous reports for CLN6. The parents are related, consistent with the novel homozygous intronic variant. The phenotype is compatible with CLN6 mutation and RNA level studies with RT-PCR and sequencing have confirmed the variant results in aberrant splicing, thus we report this finding with high confidence. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - - - DNA SEQ, SEQ-NG WES - EPM6 PME15 PubMed: Courage 2021, Journal: Courage 2021 - F yes Italy - - - - - 1 Carolina Courage
-?/. - c.487-13G>A r.(=) p.(=) Unknown - likely benign g.68503669C>T - CLN6(NM_017882.3):c.487-13G>A - CLN6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487-8T>C r.(=) p.(=) Unknown - likely benign g.68503664A>G g.68211326A>G CLN6(NM_017882.3):c.487-8T>C - CLN6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.543-2A>G r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.68502099T>C - - - CLN6_000038 - - - - Germline - - - - - DNA SEQ-NG - WES CLN6 ? - - M yes Egypt - - - - - 1 Corina-Marcela Rus
?/. - c.653G>A r.(?) p.(Gly218Asp) Unknown - VUS g.68501987C>T - - - CALML4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.662A>C r.(?) p.(Tyr221Ser) Both (homozygous) ACMG likely pathogenic g.68501978T>G g.68209640T>G - - CLN6_000003 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CLN6 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. 7 c.679G>A r.(?) p.(Glu227Lys) Both (homozygous) - VUS g.68500735C>T g.68208397C>T - - CLN6_000047 - PubMed: Ganapathy 2019 ClinVar-RCV000625854.1 rs746753722 Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0691 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.749G>A r.(?) p.(Arg250His) Unknown - VUS g.68500665C>T - CLN6(NM_017882.3):c.749G>A (p.(Arg250His)) - CALML4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755G>C r.(?) p.(Arg252Pro) Parent #1 - VUS g.68500659C>G g.68208321C>G - - CLN6_000060 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat34 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
-?/. - c.759C>G r.(?) p.(Leu253=) Unknown - likely benign g.68500655G>C - CLN6(NM_017882.2):c.759C>G (p.L253=) - CALML4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.765_785del r.(?) p.(Asp256_Leu262del) Unknown - VUS g.68500639_68500659del g.68208301_68208321del - - CALML4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.766G>A r.(?) p.(Asp256Asn) Paternal (inferred) - likely pathogenic g.68500648C>T g.68208310C>T D256E - CLN6_000002 - PubMed: Faruq 2014, Journal: Faruq 2014 - - Germline yes - - - - DNA SEQ-NG - - CLN6 - PubMed: Faruq 2014, Journal: Faruq 2014 2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs F;M no India - - - - - 4 Johan den Dunnen
-/. - c.769A>G r.(?) p.(Ser257Gly) Unknown - benign g.68500645T>C g.68208307T>C CLN6(NM_017882.2):c.769A>G (p.S257G) - CLN6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.775G>C r.(?) p.(Gly259Arg) Both (homozygous) - likely pathogenic g.68500639C>G g.68208301C>G - - CLN6_000046 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3731 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.776G>A r.(?) p.(Gly259Asp) Both (homozygous) ACMG likely pathogenic g.68500638C>T g.68208300C>T c.776G>A, p.Gly259Asp - CLN6_000051 Homozygous PubMed: Dozieres-Puyravel 2020 - - Germline ? - - - - ? ? - - CLN 6B PubMed: Dozieres-Puyravel 2020 - ? - France - - - - - 1 LOVD
+/. - c.794_796del r.(?) p.(Ser265del) Both (homozygous) ACMG pathogenic g.68500623_68500625del g.68208285_68208287del - - CLN6_000005 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CLN6 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.794_796del r.(?) p.(Ser265del) Unknown - VUS g.68500623_68500625del g.68208285_68208287del - - CLN6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.794_796del r.(?) p.(Ser265del) Both (homozygous) - likely pathogenic g.68500623_68500625del g.68208285_68208287del - - CLN6_000005 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.794_796del r.(?) p.(Ser265del) Both (homozygous) - pathogenic (recessive) g.68500623_68500625del g.68208285_68208287del - - CLN6_000005 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF080 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
+/. - c.794_796del r.(?) p.(Ser265del) Both (homozygous) - pathogenic (recessive) g.68500623_68500625del g.68208285_68208287del - - CLN6_000005 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat2 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.832G>A r.(?) p.(Ala278Thr) Unknown - VUS g.68500582C>T - CLN6(NM_017882.2):c.832G>A (p.A278T) - CALML4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.892G>A r.(?) p.(Glu298Lys) Unknown - likely pathogenic g.68500522C>T g.68208184C>T 3 compound heterozygous AR CLN6 c.244G>T p.(G82W) c.892G>A (Sun et al., 2018) p.(E298K) - CLN6_000050 heterozygous PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood WES retinal disease 3 PubMed: Ren 2019 AR M no China - - - - - 1 LOVD
-?/. - c.923G>C r.(?) p.(Ser308Thr) Unknown - likely benign g.68500491C>G g.68208153C>G CLN6(NM_017882.2):c.923G>C (p.S308T), CLN6(NM_017882.3):c.923G>C (p.S308T) - CLN6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.923G>C r.(?) p.(Ser308Thr) Unknown - likely benign g.68500491C>G g.68208153C>G CLN6(NM_017882.2):c.923G>C (p.S308T), CLN6(NM_017882.3):c.923G>C (p.S308T) - CLN6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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