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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 977028 977028 G > T AGRN NM_198576.3:c.1123G>T
NP_940978.2:p.Ala375Ser
55/5119 0.00547 4 non_synonymous Likely Benign
View 1 978974 978974 G > A AGRN NM_198576.3:c.1660G>A
NP_940978.2:p.Val554Met
58/5119 0.00567 4 non_synonymous Likely Benign
View 1 981942 981942 C > A AGRN NM_198576.3:c.3077C>A
NP_940978.2:p.Thr1026Asn
57/5119 0.00557 4 non_synonymous Likely Benign
View 1 982213 982213 G > C AGRN NM_198576.3:c.3264G>C
NP_940978.2:p.Leu1088Phe
93/5119 0.00908 4 non_synonymous Likely Benign
View 1 984971 984971 G > A AGRN NM_198576.3:c.4540G>A
NP_940978.2:p.Ala1514Thr
101/5119 0.00987 4 non_synonymous Likely Benign
View 1 1273790 1273790 T > C DVL1 NM_004421.2:c.1291A>G
NP_004412.2:p.Thr431Ala
35/5119 0.00342 4 non_synonymous Likely Benign
View 1 1277040 1277041 CA > - DVL1 NM_004421.2:c.605+6_605+7del
18/5119 0.00176 3 five_prime_flank Likely Benign
View 1 2234791 2234791 C > T SKI NM_003036.3:c.1163C>T
NP_003027.1:p.Ala388Val
64/5119 0.00625 1 Likely Benign
View 1 2234824 2234824 C > T SKI NM_003036.3:c.1196C>T
NP_003027.1:p.Ala399Val
5/5119 0.00049 4 non_synonymous Likely Benign
View 1 2338250 2338250 C > G PEX10 PEX10 NM_153818.1:c.745G>C
NM_002617.3:c.685G>C
NP_722540.1:p.Val249Leu
NP_002608.1:p.Val229Leu
21/6913 0.00159 4 non_synonymous Likely Benign
View 1 5935064 5935064 T > C NPHP4 NM_015102.3:c.2914A>G
NP_055917.1:p.Ser972Gly
33/6913 0.00239 4 Likely Benign
View 1 5965750 5965750 G > C NPHP4 NM_015102.3:c.1705C>G
NP_055917.1:p.Gln569Glu
20/6913 0.00145 4 Likely Benign
View 1 6027365 6027365 C > T NPHP4 NM_015102.3:c.511G>A
NP_055917.1:p.Ala171Thr
18/6913 0.0013 4 Likely Benign
View 1 6504654 6504654 T > G ESPN NM_031475.2:c.1104T>G
NP_113663.2:p.Phe368Leu
6/5119 0.00059 4 non_synonymous Likely Benign
View 1 7724562 7724562 C > T CAMTA1 NM_015215.2:c.1955C>T
NP_056030.1:p.Ser652Leu
33/5119 0.00332 4 non_synonymous Likely Benign
View 1 8421875 8421875 G > A RERE RERE RERE NM_001042682.1:c.302C>T
NM_012102.3:c.1964C>T
NM_001042681.1:c.1964C>T
NP_001036147.1:p.Ala101Val
NP_036234.3:p.Ala655Val
NP_001036146.1:p.Ala655Val
11/5119 0.00107 4 non_synonymous Likely Benign
View 1 10364260 10364260 A > G KIF1B KIF1B NM_183416.3:c.3017A>G
NM_015074.3:c.1977+6956A>G
NP_904325.2:p.Glu1006Gly
44/5119 0.0043 4 non_synonymous Likely Benign
View 1 10436626 10436626 C > T KIF1B NM_015074.3:c.5294C>T
NP_055889.2:p.Pro1765Leu
35/5119 0.00342 4 non_synonymous Likely Benign
View 1 17355075 17355075 A > T TRNAN-GUU SDHB NM_003000.2:c.423+20T>A
33/5101 0.00333 4 Likely Benign
View 1 17371286 17371286 T > C TRNAN-GUU SDHB NM_003000.2:c.170A>G
NP_002991.2:p.His57Arg
7/5119 0.00068 4 Likely Benign
View 1 19566858 19566858 G > A EMC1 TRNAN-GUU EMC1 EMC1 EMC1 NM_001271427.1:c.719C>T
NM_015047.2:c.719C>T
NM_001271428.1:c.719C>T
NM_001271429.1:c.653C>T
NP_001258356.1:p.Pro240Leu
NP_055862.1:p.Pro240Leu
NP_001258357.1:p.Pro240Leu
NP_001258358.1:p.Pro218Leu
21/5119 0.00205 4 non_synonymous Likely Benign
View 1 22155561 22155561 G > C TRNAN-GUU HSPG2 NM_005529.5:c.12004C>G
NP_005520.4:p.Leu4002Val
6/6913 0.00043 4 non_synonymous Likely Benign
View 1 22161190 22161190 C > T HSPG2 TRNAN-GUU NM_005529.5:c.10702G>A
NP_005520.4:p.Val3568Ile
37/6913 0.00275 4 non_synonymous Likely Benign
View 1 22166034 22166034 G > A TRNAN-GUU HSPG2 NM_005529.5:c.9719C>T
NP_005520.4:p.Ala3240Val
47/6913 0.0034 4 non_synonymous Likely Benign
View 1 24019079 24019079 G > T RPL11 RPL11 TRNAN-GUU NM_000975.3:c.7-20G>T
NM_001199802.1:c.7-23G>T
48/5101 0.0047 4 three_prime_flank Likely Benign
View 1 24181041 24181041 C > T TRNAN-GUU FUCA1 NM_000147.4:c.778G>A
NP_000138.2:p.Val260Ile
11/6913 0.0008 4 non_synonymous Likely Benign
View 1 24194770 24194770 C > G TRNAN-GUU FUCA1 NM_000147.4:c.7G>C
NP_000138.2:p.Ala3Pro
143/6913 0.01085 4 non_synonymous Likely Benign
View 1 27023366 27023366 C > T TRNAN-GUU ARID1A ARID1A NM_006015.4:c.472C>T
NM_139135.2:c.472C>T
NP_006006.3:p.Pro158Ser
NP_624361.1:p.Pro158Ser
21/5119 0.00225 4 non_synonymous Likely Benign
View 1 27100181 27100182 - > GCA TRNAN-GUU ARID1A ARID1A NM_006015.4:c.3999_4001dupGCA
NM_139135.2:c.3999_4001dupGCA
NP_006006.3:p.Gln1334dup
NP_624361.1:p.Gln1334dup
33/5119 0.00332 4 in_frame_indel Likely Benign
View 1 27105617 27105617 C > T TRNAN-GUU ARID1A ARID1A NM_006015.4:c.5228C>T
NM_139135.2:c.4577C>T
NP_006006.3:p.Thr1743Met
NP_624361.1:p.Thr1526Met
4/5119 0.00039 4 non_synonymous Likely Benign
View 1 27105700 27105700 C > T ARID1A TRNAN-GUU ARID1A NM_006015.4:c.5311C>T
NM_139135.2:c.4660C>T
NP_006006.3:p.Pro1771Ser
NP_624361.1:p.Pro1554Ser
1/5119 0.0001 4 non_synonymous Likely Benign
View 1 27106106 27106106 G > A TRNAN-GUU ARID1A ARID1A NM_006015.4:c.5717G>A
NM_139135.2:c.5066G>A
NP_006006.3:p.Arg1906Gln
NP_624361.1:p.Arg1689Gln
28/5119 0.00273 4 non_synonymous Likely Benign
View 1 27877117 27877117 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1510G>A
NP_001025053.1:p.Val504Met
18/5119 0.00176 4 non_synonymous Likely Benign
View 1 27877216 27877216 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1411G>A
NP_001025053.1:p.Val471Met
99/5119 0.00977 4 non_synonymous Likely Benign
View 1 27877392 27877392 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1235G>A
NP_001025053.1:p.Arg412His
60/5119 0.00586 4 non_synonymous Likely Benign
View 1 27877816 27877816 G > C TRNAN-GUU AHDC1 NM_001029882.2:c.811C>G
NP_001025053.1:p.Pro271Ala
6/5119 0.00059 3 non_synonymous Likely Benign
View 1 27878341 27878341 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.286C>T
NP_001025053.1:p.Arg96Cys
3/5119 0.00029 4 non_synonymous Likely Benign
View 1 33478877 33478877 C > T TRNAN-GUU AK2 AK2 AK2 AK2 AK2 NM_001625.3:c.625G>A
NR_037591.1:n.826G>A
NM_013411.4:c.625G>A
NM_001199199.1:c.601G>A
NR_037592.1:n.826G>A
NP_001616.1:p.Ala209Thr
NP_037543.1:p.Ala209Thr
NP_001186128.1:p.Ala201Thr
85/5119 0.0085 4 non_synonymous Likely Benign
View 1 40546065 40546065 T > C PPT1 PPT1 TRNAN-GUU NM_001142604.1:c.318+4A>G
NM_000310.3:c.627+4A>G
8/6913 0.00065 4 five_prime_flank Likely Benign
View 1 43896217 43896217 G > A TRNAN-GUU SZT2 NM_015284.3:c.4360G>A
NP_056099.3:p.Val1454Ile
55/5119 0.00537 4 non_synonymous Likely Benign
View 1 43900858 43900858 C > G SZT2 TRNAN-GUU NM_015284.3:c.5734-13C>G
3/5101 0.00029 4 polypyrimidine_tract Likely Benign
View 1 43907225 43907225 T > C TRNAN-GUU SZT2 NM_015284.3:c.7391T>C
NP_056099.3:p.Val2464Ala
66/5119 0.00664 4 non_synonymous Likely Benign
View 1 45345481 45345481 T > C EIF2B3 EIF2B3 TRNAN-GUU EIF2B3 NM_001261418.1:c.975+9A>G
NM_001166588.2:c.975+9A>G
NM_020365.4:c.975+9A>G
31/5119 0.00303 4 five_prime_intronic Likely Benign
View 1 45808982 45808982 G > A TOE1 TRNAN-GUU NM_025077.3:c.1141G>A
NP_079353.3:p.Glu381Lys
14/5101 0.00137 4 non_synonymous Likely Benign
View 1 47746113 47746113 T > C TRNAN-GUU STIL STIL NM_001048166.1:c.2017A>G
NM_003035.2:c.2017A>G
NP_001041631.1:p.Ser673Gly
NP_003026.2:p.Ser673Gly
35/5119 0.00352 4 non_synonymous Likely Benign
View 1 47746675 47746675 C > G TRNAN-GUU STIL STIL NM_001048166.1:c.1455G>C
NM_003035.2:c.1455G>C
NP_001041631.1:p.Leu485Phe
NP_003026.2:p.Leu485Phe
35/5119 0.00342 4 Likely Benign
View 1 47753301 47753301 C > T TRNAN-GUU STIL STIL NM_001048166.1:c.1055G>A
NM_003035.2:c.1055G>A
NP_001041631.1:p.Arg352His
NP_003026.2:p.Arg352His
10/5119 0.00098 3 non_synonymous Likely Benign
View 1 47767215 47767215 G > A STIL TRNAN-GUU STIL NM_001048166.1:c.453+18C>T
NM_003035.2:c.453+18C>T
38/5101 0.00382 4 five_prime_intronic Likely Benign
View 1 52867839 52867839 C > G ORC1 ORC1 TRNAN-GUU ORC1 NM_001190819.1:c.57G>C
NM_001190818.1:c.57G>C
NM_004153.3:c.57G>C
NP_001177748.1:p.Arg19Ser
NP_001177747.1:p.Arg19Ser
NP_004144.2:p.Arg19Ser
88/5119 0.00879 4 non_synonymous Likely Benign
View 1 61872217 61872218 CC > - TRNAN-GUU NFIA NFIA NFIA NFIA NM_001145511.1:c.1231-6_1231-5del
NM_005595.4:c.1255-6_1255-5del
NM_001145512.1:c.1390-6_1390-5del
NM_001134673.3:c.1255-6_1255-5del
22/5101 0.00225 4 three_prime_flank Likely Benign
Displaying 1 through 50 of 1,587 variants