CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894483
rs104894483 		0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894486
rs104894486 		1.000 0.120 15 68209639 stop gained G/A;C snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1194940137
rs1194940137 		1.000 0.120 15 68208187 missense variant G/T snv 4.0E-06
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908079
rs121908079 		1.000 0.120 15 68211289 inframe deletion ATA/- delins
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908080
rs121908080 		0.925 0.120 15 68211698 inframe deletion ATG/- delins
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1381427322
rs1381427322 		1.000 0.120 15 68229502 missense variant C/T snv 1.2E-05
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs154774633
rs154774633 		0.925 0.120 15 68214387 missense variant A/G snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs154774636
rs154774636 		0.925 0.120 15 68229568 missense variant C/G snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs154774640
rs154774640 		0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555438229
rs1555438229 		1.000 0.120 15 68208288 frameshift variant -/AG delins
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555438411
rs1555438411 		1.000 0.120 15 68209637 stop gained C/T snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555438443
rs1555438443 		1.000 0.120 15 68209759 stop gained C/T snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555438614
rs1555438614 		1.000 0.120 15 68211262 splice donor variant C/A snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555440188
rs1555440188 		1.000 0.120 15 68229500 splice donor variant A/C snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555440206
rs1555440206 		1.000 0.120 15 68229584 start lost T/C snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567095153
rs1567095153 		1.000 0.120 15 68209749 frameshift variant -/G delins
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567096598
rs1567096598 		1.000 0.120 15 68214337 missense variant A/T snv
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs374681194
rs374681194 		1.000 0.120 15 68208321 missense variant C/A;T snv 2.0E-04
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515352
rs397515352 		0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs553192210
rs553192210 		1.000 0.120 15 68214177 non coding transcript exon variant C/A;G snv 2.8E-05
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746753722
rs746753722 		1.000 0.120 15 68208397 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs747229909
rs747229909 		1.000 0.120 15 68211716 missense variant G/A;C snv 5.6E-05
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751486476
rs751486476 		0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751486476
rs751486476 		0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs756522171
rs756522171 		1.000 0.120 15 68211674 splice donor variant C/T snv 1.2E-05
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0