Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in GRN

Mutation

Exon /
Domain

Citations

1

GRN delGRN[DR184]
   ()

Complete gene
Complete protein

Gijselinck I, 2008

2

GRN IVS1+3A>T
   (g.-3828A>T)

IVS1
Complete protein

Le Ber I, 2007

3

GRN IVS1+5G>C
   (g.-3826G>C)

IVS1
Complete protein

Cruts M, 2006
Brouwers N, 2007

4

GRN delGRN[French]
   (g.-95_3490del)

IVS1-IVS12
Complete protein

Rovelet-Lecrux A, 2008

5

GRN Met1
   (g.1A>G)

EX2
Signal peptide

Le Ber I, 2008

6

GRN Met1
   (g.2T>C)

EX2
Signal peptide

Baker M, 2006
Gass J, 2006

7

GRN Met1
   (g.3G>A)

EX2
Signal peptide

Cruts M, 2006

8

GRN Val5Leu
   (g.13G>C)

   Pathogenic nature unclear

EX2
Signal peptide

López de Munain A, 2008

9

GRN Trp7Arg
   (g.19T>C)

   Pathogenic nature unclear

EX2
Signal peptide

Le Ber I, 2008

10

GRN Ala9Asp
   (g.26C>A)

EX2
Signal peptide

Mukherjee O, 2006
Gass J, 2006
Spina S, 2007
Ghetti B, 2008
Mukherjee O, 2008
Spina S, 2008
Kelley BJ, 2009
Yu CE, 2010

11

GRN Leu14
   (g.42G>A)

   Not pathogenic

EX2
Signal peptide

Guerreiro RJ, 2008
Guerreiro RJ, 2010

12

GRN Arg19Trp
   (g.55C>T)

   Not pathogenic

EX2
ParaGran

Gass J, 2006
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

13

GRN Asp22fs
   (g.63_64insC)

EX2
ParaGran

Gass J, 2006
Pietroboni AM, 2011

14

GRN Cys31fs
   (g.90_91insCTGC)

EX2
ParaGran

Baker M, 2006
Gass J, 2006
Beck J, 2008
Rohrer JD, 2008
Rohrer JD, 2009
Yu CE, 2010
Rohrer JD, 2010

15

GRN Asp33Glu
   (g.99C>A)

   Pathogenic nature unclear

EX2
ParaGran

Brouwers N, 2008
Nuytemans K, 2008

16

GRN Asp33
   (g.99C>T)

   Not pathogenic

EX2
ParaGran

Gass J, 2006
van der Zee J, 2007
Schymick J, 2007
Le Ber I, 2007
Mukherjee O, 2008
Sleegers K, 2008
Cortini F, 2008
Chiang HH, 2008
Guerreiro RJ, 2010
Yu CE, 2010
Del Bo R, 2011

17

GRN Pro34Ser
   (g.100C>T)

   Not pathogenic

EX2
ParaGran

Almeida MR, 2014

18

GRN Gly35fs
   (g.102delC)

EX2
ParaGran

Gass J, 2006
Chiang HH, 2008
Skoglund L, 2009

19

GRN Pro34
   (g.102C>T)

   Pathogenic nature unclear

EX2
ParaGran

van der Zee J, 2007
Le Ber I, 2007

20

GRN Gly35Arg
   (g.103G>A)

   Pathogenic nature unclear

EX2
ParaGran

Galimberti D, 2008
Cortini F, 2008

21

GRN IVS2+1G>A
   (g.139G>A)

IVS2
Complete protein

Gass J, 2006
Boeve BF, 2006
Pickering-Brown SM, 2006
Kelley BJ, 2009

22

GRN Thr52fs
   (g.277delA)

EX3
InterParaG

Gass J, 2006
Kelley BJ, 2009
Lindquist S, 2009
Kelley BJ, 2010

23

GRN Leu53Pro
   (g.281T>C)

   Pathogenic nature unclear

EX3
InterParaG

Skoglund L, 2007

24

GRN Leu53
   (g.282G>A)

   Not pathogenic

EX3
InterParaG

Yu CE, 2010

25

GRN Arg55Trp
   (g.286A>T)

   Not pathogenic

EX3
InterParaG

Guerreiro RJ, 2010

26

GRN Ala69Thr
   (g.328G>A)

   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

27

GRN Gly70Ser
   (g.331G>A)

   Pathogenic nature unclear

EX3
GranG

Yu CE, 2010

28

GRN Thr76
   (g.351C>T)

   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

29

GRN Val77Ile
   (g.352G>A)

   Pathogenic nature unclear

EX3
GranG

Yu CE, 2010

30

GRN Gly79fs
   (g.357_358delAG)

EX3
GranG

Gass J, 2006

31

GRN Ser82fs
   (g.366delC)

EX3
GranG

Bronner IF, 2007

32

GRN Phe86fs
   (g.378delC)

EX3
GranG

Gijselinck I, 2008

33

GRN Glu88
   (g.387G>A)

   Pathogenic nature unclear

EX3
GranG

Gass J, 2006

34

GRN Ala89
   (g.505C>T)

   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

35

GRN Ala89fs;IVS3+2T>C
   (g.389T>C)

IVS3
GranG

Gijselinck I, 2008
Yu CE, 2010

36

GRN Gly93
   (g.517G>A)

   Not pathogenic

EX4
GranG

Bronner IF, 2007
van der Zee J, 2007

37

GRN Pro100fs
   (g.537delC)

EX4
GranG

Yu CE, 2010

38

GRN Cys105Arg
   (g.551T>C)

   Pathogenic nature unclear

EX4
GranG

Gass J, 2006
Yu CE, 2010

39

GRN Cys105Tyr
   (g.552G>A)

   Pathogenic nature unclear

EX4
GranG

Karch CM, 2016

40

GRN Ser106Asn
   (g.555G>A)

   Not pathogenic

EX4
GranG

van der Zee J, 2007

41

GRN Asp108
   (g.562C>T)

   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

42

GRN Arg110X
   (g.566C>T)

EX4
GranG

Van Deerlin VM, 2007
Le Ber I, 2008
Yu CE, 2010

43

GRN Arg110Gln
   (g.567G>A)

   Pathogenic nature unclear

EX4
GranG

Sleegers K, 2008

44

GRN Ser116X
   (g.585C>A)

EX4
interGF

Yu CE, 2010

45

GRN Ala89fs
   (g.586A>C)

EX4
interGF

Yu CE, 2010

46

GRN Asn118fs
   (g.1064delG)

EX5
interGF

Le Ber I, 2008
Gijselinck I, 2008

47

GRN Asn119del
   (g.1069_1071delAAC)

   Not pathogenic

EX5
InterGF

Guerreiro RJ, 2010

48

GRN Ser120Tyr
   (g.1073C>A)

   Not pathogenic

EX5
InterGF

Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

49

GRN Val121fs
   (g.1075delG)

EX5
InterGF

Le Ber I, 2007
Le Ber I, 2008

50

GRN Ile124Thr
   (g.1085T>C)

   Pathogenic nature unclear

EX5
GranF

Sleegers K, 2008

51

GRN Gln125X
   (g.1087C>T)

EX5
GranF

Baker M, 2006
Cruts M, 2006
Bronner IF, 2007

52

GRN Pro127fs
   (g.1094_1095delCT)

EX5
GranF

Cruts M, 2006
Le Ber I, 2008

53

GRN Asp128
   (g.1098T>C)

   Not pathogenic

EX5
GranF

Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011

54

GRN Gln130fs
   (g.1098_1101delTAGT)

EX5
GranF

Le Ber I, 2007
Le Ber I, 2008

55

GRN Gln130fs
   (g.1102_1105delCAGT)

EX5
GranF

Baker M, 2006
Gass J, 2006
Beck J, 2008
Finch N, 2009
Carecchio M, 2009
Yu CE, 2010
Rohrer JD, 2010

56

GRN Pro134
   (g.1116G>A)

   Not pathogenic

EX5
GranF

Guerreiro RJ, 2010

57

GRN Thr138
   (g.1128G>A)

   Pathogenic nature unclear

EX5
GranF

Sleegers K, 2008

58

GRN Cys139Arg
   (g.1129T>C)

   Pathogenic nature unclear

EX5
GranF

Brouwers N, 2008
Finch N, 2009
Bernardi L, 2009

59

GRN Val141Ile
   (g.1135G>A)

   Not pathogenic

EX5
GranF

Schymick J, 2007

60

GRN Ala155fs
   (g.1277G>A)

IVS5
GranF

Gass J, 2006
Le Ber I, 2008

61

GRN Cys157fs
   (g.1283_1289delCTGCTGT)

EX6
GranF

Le Ber I, 2007
Le Ber I, 2008

62

GRN Cys158Tyr
   (g.1288G>A)

   Not pathogenic

EX6
GranF

van der Zee J, 2007

63

GRN Gly168Ser
   (g.1317G>A)

   Pathogenic nature unclear

EX6
GranF

Pickering-Brown SM, 2008

64

GRN Ala169
   (g.1322C>G)

   Not pathogenic

EX6
GranF

Guerreiro RJ, 2010

65

GRN Arg177His
   (g.1345G>A)

   Pathogenic nature unclear

EX6
GranF

López de Munain A, 2008

66

GRN Thr182Met
   (g.1360C>T)

   Not pathogenic

EX6
InterFB

Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010
Yu CE, 2010

67

GRN Thr182
   (g.1361G>A)

   Not pathogenic

EX6
InterFB

Guerreiro RJ, 2010

68

GRN Arg198fs
   (g.1407_1408delAG)

EX6
InterFB

Finch N, 2009
Yu CE, 2010

69

GRN Ala199Val
   (g.1411C>T)

   Pathogenic nature unclear

EX6
interFB

Beck J, 2008
Rohrer JD, 2010
Karch CM, 2016

70

GRN Ser203fs
   (g.1531_1532insC)

EX7
interFB

Beck J, 2008
Rohrer JD, 2010

71

GRN Arg212Trp
   (g.1562C>T)

   Pathogenic nature unclear

EX7
GranB

Yu CE, 2010

72

GRN Arg212Gln
   (g.1563G>A)

   Not pathogenic

EX7
GranB

van der Zee J, 2007
Brouwers N, 2008

73

GRN Thr220Ser
   (g.1586A>T)

   Not pathogenic

EX7
GranB

van der Zee J, 2007

74

GRN Cys221Ser
   (g.1590G>C)

   Not pathogenic

EX7
GranB

Guerreiro RJ, 2010

75

GRN Cys222Tyr
   (g.1593G>A)

   Pathogenic nature unclear

EX7
GranB

Lee JH, 2014

76

GRN Ser226fs;
   (g.1603_1604delCA)

EX7
GranB

Gass J, 2006
Van Deerlin VM, 2007
Davion S, 2007
Coppola G, 2008
Yu CE, 2010
Kim G, 2016

77

GRN Pro233Gln
   (g.1626C>A)

   Pathogenic nature unclear

EX7
GranB

Bronner IF, 2007

78

GRN Asn236
   (g.1636C>T)

   Pathogenic nature unclear

EX7
GranB

Gass J, 2006

79

GRN Val200fs; IVS7+1G>A
   (g.1637G>A)

IVS7
InterFB

Masellis M, 2006
Le Ber I, 2007
Le Ber I, 2008

80

GRN Val200fs
   (g.1637G>C)

IVS7
InterFB

Gass J, 2006

81

GRN IVS7-3C>G
   (g.1870C>G)

   Pathogenic nature unclear

IVS7
GranB

Benussi L, 2008

82

GRN Ala237fs
   (g.1871A>G)

IVS7
GranB

Behrens MI, 2007
Spina S, 2007
Leverenz JB, 2007
Davion S, 2007
Ghetti B, 2008
Mukherjee O, 2008
Yu CE, 2010
Kim G, 2016

83

GRN Ala237fs
   (g.1872G>A)

IVS7
GranB

López de Munain A, 2008
Moreno F, 2009

84

GRN Pro248Leu
   (g.1907C>T)

   Pathogenic nature unclear

EX8
GranB

van der Zee J, 2007
Le Ber I, 2007

85

GRN Thr251Ser
   (g.1916C>G)

   Pathogenic nature unclear

EX8
GranB

Yu CE, 2010

86

GRN Cys253X
   (g.1923_1924delTG)

EX8
GranB

Gass J, 2006
Le Ber I, 2008

87

GRN Gln257fs
   (g.1933_1934insCC)

EX8
GranB

Jin SC, 2012
Almeida MR, 2014

88

GRN Ser258Asn
   (g.1937G>A)

   Pathogenic nature unclear

EX8
GranB

van der Zee J, 2007
Le Ber I, 2007

89

GRN Lys259X
   (g.1939A>T)

EX8
GranB

Schlachetzki JC, 2009

90

GRN Leu261Ile
   (g.1945C>A)

   Not pathogenic

EX8
InterBA

van der Zee J, 2007
Brouwers N, 2008

91

GRN Ser262
   (g.1950C>T)

   Not pathogenic

EX8
InterBA

Guerreiro RJ, 2010

92

GRN Thr268
   (g.1968G>A)

   Not pathogenic

EX8
InterBA

van der Zee J, 2007
Sleegers K, 2008

93

GRN Thr272fs
   (g.1977_1980delCACT)

EX8
InterBA

Benussi L, 2008
Le Ber I, 2008
Borroni B, 2008
Benussi L, 2008
Tremolizzo L, 2009
Carecchio M, 2009
Yu CE, 2010

94

GRN Ala276Val
   (g.1991C>T)

   Pathogenic nature unclear

EX8
InterBA

Yu CE, 2010

95

GRN Ala237fs
   (g.1999_2000insCTGA)

IVS8
GranB

Cruts M, 2006

96

GRN Val279fs;IVS8-1G>C
   (g.2198G>C)

IVS8
InterBA

Gass J, 2006
Coppola G, 2008

97

GRN Asp285fs
   (g.2211_2217dupAATGTGA)

EX9
GranA

Yu CE, 2010

98

GRN Glu287Asp
   (g.2224G>C)

   Pathogenic nature unclear

EX9
GranA

Gass J, 2006

99

GRN Tyr294X
   (g.2245T>G)

EX9
GranA

Steinbach P, 2009

100

GRN Arg298His
   (g.2256G>A)

   Pathogenic nature unclear

EX9
GranA

Yu CE, 2010
Karch CM, 2016

101

GRN Gln300X
   (g.2261C>T)

EX9
GranA

Beck J, 2008
Rohrer JD, 2009

102

GRN Ser301fs
   (g.2264_2265insGT)

EX9
GranA

Guerreiro RJ, 2008
Almeida MR, 2014

103

GRN Ser301
   (g.2266G>A)

   Not pathogenic

EX9
GranA

Gass J, 2006
van der Zee J, 2007
Sleegers K, 2008
Yu CE, 2010

104

GRN Ala303fs
   (g.2270_2271insG)

EX9
GranA

Gijselinck I, 2008

105

GRN Trp304fs
   (g.2272delC)

EX9
GranA

Lladó A, 2007
Almeida MR, 2014

106

GRN Trp304fs
   (g.2273_2274insTG)

EX9
GranA

Gass J, 2006
Kelley BJ, 2009
Kim G, 2016

107

GRN Trp304X
   (g.2274G>A)

EX9
GranA

Gass J, 2006
Van Deerlin VM, 2007
Yu CE, 2010

108

GRN Val279fs
   (g.2297G>A)

IVS9
GranA

Baker M, 2006
Gass J, 2006

109

GRN Cys314X
   (g.2394C>A)

EX10
GranA

Le Ber I, 2007
Le Ber I, 2008

110

GRN Ala324Thr
   (g.2422G>A)

   Not pathogenic

EX10
GranA

Gass J, 2006
Schymick J, 2007
Beck J, 2008
Pickering-Brown SM, 2008
Sleegers K, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009
Yu CE, 2010
Sassi C, 2014

111

GRN Lys332
   (g.2448G>A)

   Not pathogenic

EX10
GranA

van der Zee J, 2007

112

GRN Gly333fs
   (g.2450delG)

EX10
GranA

Gass J, 2006
Mesulam M, 2007
Kelley BJ, 2009

113

GRN Gln337X
   (g.2461C>T)

EX10
InterAC

Van Deerlin VM, 2007
Yu CE, 2010

114

GRN His340fs
   (g.2466delG)

EX10
GranA

Benussi L, 2008

115

GRN Gln341X
   (g.2473C>T)

EX10
GranA

Benussi L, 2008

116

GRN Ser353Asn
   (g.2510G>A)

   Pathogenic nature unclear

EX10
InterAC

Yu CE, 2010

117

GRN Pro357fs
   (g.2522delC)

EX10
InterAC

López de Munain A, 2008

118

GRN Pro357Arg
   (g.2522C>G)

   Pathogenic nature unclear

EX10
InterAC

Yu CE, 2010

119

GRN Gln358X
   (g.2524C>T)

EX10
InterAC

Spina S, 2008

120

GRN Cys366fs
   (g.2547_2548delCT)

EX10
GranC

Le Ber I, 2007
Le Ber I, 2008

121

GRN Asp376Asn
   (g.2578G>A)

   Not pathogenic

EX10
GranC

Guerreiro RJ, 2010

122

GRN Thr382fs
   (g.2596_2597insA)

EX10
GranC

Bruni AC, 2007
Frangipane F, 2008

123

GRN Thr382fs
   (g.2597delC)

EX10
GranC

Baker M, 2006
Gass J, 2006
Kelley BJ, 2009

124

GRN Trp386X
   (g.2609G>A)

EX10
GranC

Baker M, 2006
Gass J, 2006
Lindquist S, 2009
Yu CE, 2010

125

GRN Pro392
   (g.2628A>C)

   Pathogenic nature unclear

EX10
GranC

Schymick J, 2007

126

GRN Ala394fs
   (g.2632delG)

IVS10
GranC

Almeida MR, 2014

127

GRN Glu316_Cys397del
   (g.2633T>C)

IVS10
GranA; InterAC; GranC

Yu CE, 2010

128

GRN Ser398Leu
   (g.2864C>T)

   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

129

GRN Gln401X
   (g.2872C>T)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

130

GRN Thr409
   (g.2898G>A)

   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

131

GRN Val411fs
   (g.2902_2903delGT)

EX11
GranC

Bronner IF, 2007

132

GRN Ala412fs
   (g.2903_2904insGT)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

133

GRN Gly414Val
   (g.2912G>T)

   Not pathogenic

EX11
GranC

Bronner IF, 2007

134

GRN Gln415X
   (g.2914C>T)

EX11
GranC

Pickering-Brown SM, 2008

135

GRN Arg418X
   (g.2923C>T)

EX11
InterCD

Baker M, 2006
Gass J, 2006
Van Deerlin VM, 2007
Schlachetzki JC, 2009
Yu CE, 2010

136

GRN Arg418Gln
   (g.2924G>A)

   Not pathogenic

EX11
InterCD

Gass J, 2006
Bronner IF, 2007
van der Zee J, 2007
Le Ber I, 2007
Sleegers K, 2008
Yu CE, 2010

137

GRN Arg432Cys
   (g.2965C>T)

   Pathogenic nature unclear

EX11
InterCD

van der Zee J, 2007
Le Ber I, 2007
Sassi C, 2014

138

GRN Arg433Trp
   (g.2968C>T)

   Not pathogenic

EX11
InterCD

Gass J, 2006
Spina S, 2007
van der Zee J, 2007
Schymick J, 2007
Beck J, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009
Yu CE, 2010
Sassi C, 2014

139

GRN Arg433Gln
   (g.2969G>A)

   Not pathogenic

EX11
InterCD

Mukherjee O, 2008
Guerreiro RJ, 2010

140

GRN Asp441fs
   (g.2988_2989delCA)

EX11
InterCD

Yu CE, 2010

141

GRN His447
   (g.3012C>T)

   Pathogenic nature unclear

EX11
GranD

Bronner IF, 2007
Sleegers K, 2008
Finch N, 2009

142

GRN Pro451Leu
   (g.3023C>T)

   Pathogenic nature unclear

EX11
GranD

Brouwers N, 2008

143

GRN Pro458Leu
   (g.3044C>T)

   Not pathogenic

EX11
GranD

Schymick J, 2007

144

GRN Cys466fs
   (g.3066_3067insC)

EX11
GranD

Gass J, 2006
Kelley BJ, 2009

145

GRN Gln468X
   (g.3073C>T)

EX11
GranD

Baker M, 2006
Yu CE, 2010

146

GRN Leu469Phe
   (g.3078G>T)

   Pathogenic nature unclear

EX11
GranD

Beck J, 2008
Rohrer JD, 2009

147

GRN Pro470Leu
   (g.3080C>T)

   Not pathogenic

EX11
GranD

van der Zee J, 2007

148

GRN IVS11-15_EX12+177del; Δ12; A472fs
   (g.3162_3354del)

EX12
GranD; InterDE; GranE

Pickering-Brown SM, 2006
Finch N, 2009
Yu CE, 2010

149

GRN Ala472_Gln548del
   (g.3175A>G)

IVS11
GranD; InterDE; GranE

Yu CE, 2010

150

GRN Cys474fs
   (g.3183_3184delTG)

EX12
GranD

Spina S, 2008

151

GRN Cys474
   (g.3185C>T)

   Pathogenic nature unclear

EX12
GranD

Gass J, 2006

152

GRN Cys475
   (g.3188C>T)

   Not pathogenic

EX12
GranD

van der Zee J, 2007

153

GRN Arg493X
   (g.3240C>T)

EX12
GranD

Huey ED, 2006
Gass J, 2006
Pickering-Brown SM, 2006
Mesulam M, 2007
Spina S, 2007
Van Deerlin VM, 2007
Davion S, 2007
Rademakers R, 2007
Ghetti B, 2008
Spina S, 2008
Kelley BJ, 2009
Rohrer JD, 2010
Yu CE, 2010
Kim G, 2016

154

GRN Cys495
   (g.3248C>T)

   Pathogenic nature unclear

EX12
GranD

van der Zee J, 2007

155

GRN Glu498fs
   (g.3257_3261delAGTGG)

EX12
InterDE

Beck J, 2008
Le Ber I, 2008
Rohrer JD, 2010

156

GRN Gln503X
   (g.3270C>T)

EX12
InterDE

Aswathy PM, 2016

157

GRN Ala505
   (g.3278C>T)

   Not pathogenic

EX12
InterDE

Guerreiro RJ, 2010

158

GRN Val514Met
   (g.3303G>A)

   Pathogenic nature unclear

EX12
InterDE

Brouwers N, 2008
Nuytemans K, 2008

159

GRN Gly515Ala
   (g.3307G>C)

   Not pathogenic

EX12
InterDE

Gass J, 2006
van der Zee J, 2007
Brouwers N, 2008
Guerreiro RJ, 2010
Yu CE, 2010

160

GRN Asp518
   (g.3317C>T)

   Not pathogenic

EX12
GranE

Guerreiro RJ, 2010
Del Bo R, 2011

161

GRN Val519Met
   (g.3318G>A)

   Pathogenic nature unclear

EX12
GranE

Lee JH, 2014

162

GRN Cys521Tyr
   (g.3325G>A)

EX12
GranE

Cruchaga C, 2009

163

GRN Arg535X
   (g.3366C>T)

   Pathogenic nature unclear

EX12
GranE

Brouwers N, 2007

164

GRN Trp541Cys
   (g.3386G>C)

   Pathogenic nature unclear

EX12
GranE

Bronner IF, 2007

165

GRN Arg547Cys
   (g.3402C>T)

   Pathogenic nature unclear

EX12
GranE

Wong S, 2008
Wong SH, 2009

166

GRN Val550Ile
   (g.3500G>A)

   Not pathogenic

EX13
GranE

van der Zee J, 2007

167

GRN Arg556Cys
   (g.3518C>T)

   Not pathogenic

EX13
GranE

Schymick J, 2007

168

GRN Arg564Cys
   (g.3542C>T)

   Pathogenic nature unclear

EX13
GranE

Brouwers N, 2008

169

GRN Arg564His
   (g.3543G>A)

   Not pathogenic

EX13
GranE

Guerreiro RJ, 2010

170

GRN Cys565
   (g.3547C>T)

   Not pathogenic

EX13
GranE

van der Zee J, 2007
Le Ber I, 2007
Guerreiro RJ, 2010

171

GRN Pro578
   (g.3586G>A)

   Pathogenic nature unclear

EX13
C-Term

Finch N, 2009

172

GRN Ala582Thr
   (g.3596G>A)

   Not pathogenic

EX13
C-Term

Sassi C, 2014


Selection: Gene In (GRN



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