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: rs397517889
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 14 2000 2014
dbSNP: rs56984562
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 14 2003 2017
dbSNP: rs59332535
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 13 2000 2014
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 12 1991 2013
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 1.000 12 1991 2013
dbSNP: rs1553265342
rs1553265342
LMNA
1.000 0.080 1 156134909 missense variant GC/TT mnv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 11 2000 2015
dbSNP: rs61672878
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 11 2000 2016
dbSNP: rs267607599
rs267607599
LMNA
0.925 0.120 1 156136422 missense variant A/G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 10 2000 2015
dbSNP: rs267607555
rs267607555
LMNA
0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2004 2017
dbSNP: rs397517889
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2003 2014
dbSNP: rs121912496
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2008 2015
dbSNP: rs267607578
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.810 1.000 8 1999 2014
dbSNP: rs56984562
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.810 1.000 8 1999 2017
dbSNP: rs59026483
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2002 2015
dbSNP: rs60458016
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2000 2014
dbSNP: rs267607571
rs267607571
LMNA
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2002 2017
dbSNP: rs60872029
rs60872029
LMNA
0.925 0.120 1 156115010 inframe deletion AAG/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2002 2014
dbSNP: rs61444459
rs61444459
LMNA
0.851 0.160 1 156137667 missense variant G/A;C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2000 2017
dbSNP: rs267607554
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 2006 2014
dbSNP: rs59270054
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.720 1.000 6 2005 2010
dbSNP: rs61195471
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 6 1999 2012
dbSNP: rs61444459
rs61444459
LMNA
0.851 0.160 1 156137667 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 2003 2014
dbSNP: rs267607555
rs267607555
LMNA
0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 5 1990 2013
dbSNP: rs267607555
rs267607555
LMNA
0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 1.000 5 1990 2013
dbSNP: rs267607578
rs267607578
LMNA
0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2007 2017