MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Torre-Muir syndrome ×
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: rs1553350126
rs1553350126 		0.925 0.200 2 47408456 frameshift variant -/AAGATCTTCTTCTGGTTCGTCA delins
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs267607940
rs267607940 		0.851 0.240 2 47416430 splice donor variant G/A;T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779190
rs587779190 		0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63749849
rs63749849 		0.851 0.240 2 47429812 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63750047
rs63750047 		0.925 0.200 2 47475066 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63750508
rs63750508 		0.851 0.240 2 47475126 stop gained C/G;T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63750636
rs63750636 		0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63750875
rs63750875 		0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs63751108
rs63751108 		0.827 0.240 2 47429881 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779075
rs587779075 		0.882 0.200 2 47429830 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019