MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: rs63749795
rs63749795 		0.807 0.240 3 37028833 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 0.710 1.000 1 2019 2019
dbSNP: rs63750610
rs63750610 		0.851 0.240 3 37048563 missense variant 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 1.000 11 2001 2014
dbSNP: rs1553647894
rs1553647894 		0.882 0.200 3 37020309 splice acceptor variant G/A;C 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: rs267607720
rs267607720 		0.851 0.240 3 37000952 splice region variant 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: rs267607735
rs267607735 		0.851 0.240 3 37001058 splice region variant G/A 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: rs267607768
rs267607768 		0.851 0.240 3 37011867 splice region variant G/A;C 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: rs267607871
rs267607871 		0.851 0.240 3 37048515 splice acceptor variant A/G 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: rs63750217
rs63750217 		0.807 0.240 3 37048955 missense variant G/A;C 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: rs63750540
rs63750540 		0.851 0.240 3 37025979 stop gained 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: rs63751275
rs63751275 		0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-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