Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 6 2002 2014
dbSNP: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 6 2002 2014
dbSNP: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 6 2002 2014
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 1.000 5 2006 2012
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 5 2006 2012
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 5 2006 2012
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 3 2002 2006
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 3 2002 2006
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/C snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/C snv
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/C snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 3 2002 2006
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 2 2007 2008
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 2 2007 2008
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 2 2007 2008
dbSNP: rs587777819
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2007 2007
dbSNP: rs587777819
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 1 2007 2007
dbSNP: rs119462981
rs119462981
POMT1
1.000 0.120 9 131510401 stop gained C/T snv 7.0E-06
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		0.700 0
dbSNP: rs119462984
rs119462984
POMT1 ; LOC105376301
1.000 9 131520175 missense variant G/C snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 0
dbSNP: rs1250351189
rs1250351189
POMT1
1.000 0.120 9 131508964 frameshift variant T/- delins 2.1E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0