TCAP, titin-cap, 8557

N. diseases: 6; N. variants: 11
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G ×
Source: CLINVAR ×
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: rs104894655
rs104894655 		0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555606959
rs1555606959 		1.000 0.120 17 39665391 frameshift variant -/G delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs45495192
rs45495192 		1.000 0.120 17 39665391 stop gained C/A;G;T snv 4.0E-06; 2.7E-04; 1.0E-03
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205076
rs786205076 		1.000 0.120 17 39665467 splice donor variant GG/- delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863224933
rs863224933 		1.000 0.120 17 39665383 stop gained -/GAGGTGT delins
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0