MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Mucolipidosis Type IV ×
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: rs754097561
rs754097561 		1.000 0.160 19 7529689 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2000 2017
dbSNP: rs797044824
rs797044824 		1.000 0.160 19 7526869 stop gained C/T snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2000 2015
dbSNP: rs797044823
rs797044823 		1.000 0.160 19 7530370 frameshift variant -/GGCCGCAGCAG delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2001 2002
dbSNP: rs797044825
rs797044825 		1.000 0.160 19 7526518 missense variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs797044827
rs797044827 		1.000 0.160 19 7529693 missense variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs797044828
rs797044828 		1.000 0.160 19 7530321 missense variant C/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs1555742780
rs1555742780 		1.000 0.160 19 7533561 frameshift variant G/- delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs751298168
rs751298168 		1.000 0.160 19 7533651 stop gained A/C;T snv 4.0E-06
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs797044817
rs797044817 		1.000 0.160 19 7529184 inframe deletion TTC/- delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1057516458
rs1057516458 		1.000 0.160 19 7529100 splice acceptor variant G/A;C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516531
rs1057516531 		1.000 0.160 19 7530373 stop gained C/A;T snv 4.0E-06
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516602
rs1057516602 		1.000 0.160 19 7524978 frameshift variant -/C delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516904
rs1057516904 		0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517040
rs1057517040 		1.000 0.160 19 7528235 frameshift variant -/A ins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517335
rs1057517335 		1.000 0.160 19 7529099 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517453
rs1057517453 		1.000 0.160 19 7527862 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741545
rs1555741545 		1.000 0.160 19 7524959 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741548
rs1555741548 		1.000 0.160 19 7524964 frameshift variant -/AGCG delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741822
rs1555741822 		1.000 0.160 19 7526928 splice donor variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555742162
rs1555742162 		1.000 0.160 19 7528972 splice donor variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044820
rs797044820 		1.000 0.160 19 7525092 frameshift variant AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT/TCA delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044821
rs797044821 		1.000 0.160 19 7526828 frameshift variant CC/- del
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044822
rs797044822 		1.000 0.160 19 7529175 frameshift variant -/T delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044829
rs797044829 		1.000 0.160 19 7530314 missense variant G/A snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044830
rs797044830 		1.000 0.160 19 7526503 frameshift variant TC/- del
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0