MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
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: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		Eye Diseases 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		Mental Disorders 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 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: 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: rs797044818
rs797044818 		1.000 0.160 19 7530332 missense variant A/G snv 1.4E-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 0.700 0
dbSNP: rs797044826
rs797044826 		1.000 0.160 19 7526852 missense variant G/T snv 4.0E-06 2.1E-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 0.700 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: rs797044832
rs797044832 		1.000 0.160 19 7525164 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 0
dbSNP: rs1057516904
rs1057516904 		0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 1998 2016
dbSNP: rs1057516904
rs1057516904 		0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1998 2016
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: 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: 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: 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: 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: rs779141908
rs779141908 		1.000 0.160 19 7528684 splice donor variant CTGCTGCAGAACGTGAGGCTTC/- delins 1.4E-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 0.700 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