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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
68/6955 0.00496 4 non_synonymous Likely Benign
View 1 978974 978974 G > A AGRN NM_198576.3:c.1660G>A
NP_940978.2:p.Val554Met
75/6955 0.00539 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 981942 981942 C > A AGRN NM_198576.3:c.3077C>A
NP_940978.2:p.Thr1026Asn
74/6955 0.00532 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 982213 982213 G > C AGRN NM_198576.3:c.3264G>C
NP_940978.2:p.Leu1088Phe
132/6955 0.00949 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 984971 984971 G > A AGRN NM_198576.3:c.4540G>A
NP_940978.2:p.Ala1514Thr
143/6955 0.01028 4 non_synonymous Likely Benign
View 1 1273790 1273790 T > C DVL1 NM_004421.2:c.1291A>G
NP_004412.2:p.Thr431Ala
46/6955 0.00331 4 non_synonymous Likely Benign
View 1 1277040 1277041 CA > - DVL1 NM_004421.2:c.605+6_605+7del
22/6955 0.00158 3 five_prime_flank Likely Benign
View 1 2234791 2234791 C > T SKI NM_003036.3:c.1163C>T
NP_003027.1:p.Ala388Val
87/6955 0.00625 4 Likely Benign
View 1 2234824 2234824 C > T SKI NM_003036.3:c.1196C>T
NP_003027.1:p.Ala399Val
7/6955 0.0005 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
33/8745 0.00194 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 5935064 5935064 T > C NPHP4 NM_015102.3:c.2914A>G
NP_055917.1:p.Ser972Gly
41/8745 0.00234 4 Likely Benign
View 1 5965750 5965750 G > C NPHP4 NM_015102.3:c.1705C>G
NP_055917.1:p.Gln569Glu
24/8745 0.00137 4 Likely Benign
View 1 6027365 6027365 C > T NPHP4 NM_015102.3:c.511G>A
NP_055917.1:p.Ala171Thr
24/8745 0.00137 4 Likely Benign
View 1 6504654 6504654 T > G ESPN NM_031475.2:c.1104T>G
NP_113663.2:p.Phe368Leu
10/6955 0.00072 4 non_synonymous Likely Benign
View 1 7724562 7724562 C > T CAMTA1 NM_015215.2:c.1955C>T
NP_056030.1:p.Ser652Leu
40/6955 0.00295 4 non_synonymous Likely Benign
View 1 7792679 7792679 C > T CAMTA1 NM_015215.2:c.3066+20C>T
16/6916 0.00116 4 five_prime_intronic Likely Benign
View 1 8415618 8415618 G > T RERE RERE RERE NM_012102.3:c.4528C>A
NM_001042682.1:c.2866C>A
NM_001042681.1:c.4528C>A
NP_036234.3:p.Pro1510Thr
NP_001036147.1:p.Pro956Thr
NP_001036146.1:p.Pro1510Thr
26/6955 0.00187 4 non_synonymous Likely Benign
View 1 8420065 8420065 C > A RERE RERE RERE NM_012102.3:c.3396-19G>T
NM_001042682.1:c.1734-19G>T
NM_001042681.1:c.3396-19G>T
2/6916 0.00014 4 three_prime_flank Likely Benign
View 1 8421096 8421096 G > A RERE RERE RERE NM_012102.3:c.2471C>T
NM_001042682.1:c.809C>T
NM_001042681.1:c.2471C>T
NP_036234.3:p.Pro824Leu
NP_001036147.1:p.Pro270Leu
NP_001036146.1:p.Pro824Leu
5/6955 0.00036 4 non_synonymous Likely Benign
View 1 8421875 8421875 G > A RERE RERE RERE NM_012102.3:c.1964C>T
NM_001042682.1:c.302C>T
NM_001042681.1:c.1964C>T
NP_036234.3:p.Ala655Val
NP_001036147.1:p.Ala101Val
NP_001036146.1:p.Ala655Val
12/6955 0.00086 4 non_synonymous Likely Benign
View 1 8568666 8568666 G > A RERE RERE NM_012102.3:c.879+20C>T
NM_001042681.1:c.879+20C>T
50/6916 0.00361 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 8616562 8616562 C > T RERE RERE NM_012102.3:c.697G>A
NM_001042681.1:c.697G>A
NP_036234.3:p.Val233Ile
NP_001036146.1:p.Val233Ile
12/6955 0.00086 4 non_synonymous Likely Benign
View 1 8716321 8716322 - > TCTTTG RERE RERE NM_012102.3:c.30_35dupCAAAGA
NM_001042681.1:c.30_35dupCAAAGA
NP_036234.3:p.Asp10_Lys11dup
NP_001036146.1:p.Asp10_Lys11dup
6/6955 0.00043 4 in_frame_indel Likely Benign
View 1 10364260 10364260 A > G KIF1B KIF1B NM_015074.3:c.1977+6956A>G
NM_183416.3:c.3017A>G
NP_904325.2:p.Glu1006Gly
61/6955 0.00439 4 non_synonymous Likely Benign
View 1 10436626 10436626 C > T KIF1B NM_015074.3:c.5294C>T
NP_055889.2:p.Pro1765Leu
65/6955 0.00467 4 non_synonymous Likely Benign
View 1 17355075 17355075 A > T SDHB TRNAN-GUU NM_003000.2:c.423+20T>A
40/6916 0.00296 4 Likely Benign
View 1 17371286 17371286 T > C SDHB TRNAN-GUU NM_003000.2:c.170A>G
NP_002991.2:p.His57Arg
9/6955 0.00065 4 Likely Benign
View 1 19566858 19566858 G > A EMC1 TRNAN-GUU EMC1 EMC1 EMC1 NM_015047.2:c.719C>T
NM_001271427.1:c.719C>T
NM_001271428.1:c.719C>T
NM_001271429.1:c.653C>T
NP_055862.1:p.Pro240Leu
NP_001258356.1:p.Pro240Leu
NP_001258357.1:p.Pro240Leu
NP_001258358.1:p.Pro218Leu
27/6955 0.00194 4 non_synonymous Likely Benign
View 1 21554554 21554554 A > C ECE1 TRNAN-GUU ECE1 ECE1 ECE1 NM_001397.2:c.1671-20T>G
NM_001113347.1:c.1635-20T>G
NM_001113349.1:c.1662-20T>G
NM_001113348.1:c.1623-20T>G
100/6917 0.00723 4 three_prime_flank Likely Benign
View 1 21564631 21564631 C > T ECE1 TRNAN-GUU ECE1 ECE1 ECE1 NM_001397.2:c.1385G>A
NM_001113347.1:c.1349G>A
NM_001113349.1:c.1376G>A
NM_001113348.1:c.1337G>A
NP_001388.1:p.Ser462Asn
NP_001106818.1:p.Ser450Asn
NP_001106820.1:p.Ser459Asn
NP_001106819.1:p.Ser446Asn
74/6955 0.00532 4 non_synonymous Likely Benign
View 1 21903947 21903947 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.1381G>A
ENST00000539907.1:c.1150G>A
ENST00000540617.1:c.1216G>A
ENSP00000363973.3:p.Val461Ile
ENSP00000437674.1:p.Val384Ile
ENSP00000442672.1:p.Val406Ile
39/8745 0.00223 4 Likely Benign
View 1 22155561 22155561 G > C TRNAN-GUU HSPG2 NM_005529.5:c.12004C>G
NP_005520.4:p.Leu4002Val
8/8745 0.00046 4 non_synonymous Likely Benign
View 1 22161190 22161190 C > T TRNAN-GUU HSPG2 NM_005529.5:c.10702G>A
NP_005520.4:p.Val3568Ile
57/8745 0.00332 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 22161394 22161394 C > T TRNAN-GUU HSPG2 NM_005529.5:c.10498G>A
NP_005520.4:p.Val3500Met
84/8745 0.00486 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
53/8745 0.00303 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 22205601 22205601 T > C TRNAN-GUU HSPG2 NM_005529.5:c.2357A>G
NP_005520.4:p.Asn786Ser
86/8745 0.00492 4 non_synonymous Likely Benign
View 1 24019079 24019079 G > T TRNAN-GUU RPL11 RPL11 NM_001199802.1:c.7-23G>T
NM_000975.3:c.7-20G>T
58/6916 0.00419 4 three_prime_flank Likely Benign
View 1 24123348 24123348 C > T GALE TRNAN-GUU GALE GALE NM_001008216.1:c.709+18G>A
NM_000403.3:c.709+18G>A
NM_001127621.1:c.709+18G>A
33/6916 0.00239 4 five_prime_intronic Likely Benign
View 1 24181041 24181041 C > T TRNAN-GUU FUCA1 NM_000147.4:c.778G>A
NP_000138.2:p.Val260Ile
12/8745 0.00069 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
188/8745 0.01126 4 non_synonymous Likely Benign
View 1 24687371 24687371 C > T STPG1 STPG1 STPG1 GRHL3 TRNAN-GUU STPG1 NM_001199013.1:c.898G>A
NM_001199012.1:c.898G>A
NM_178122.4:c.757G>A
NM_198174.2:c.1695-3304C>T
NM_001199014.1:c.622G>A
NP_001185942.1:p.Ala300Thr
NP_001185941.1:p.Ala300Thr
NP_835223.1:p.Ala253Thr
NP_001185943.1:p.Ala208Thr
74/6916 0.00535 4 non_synonymous Likely Benign
View 1 27023366 27023366 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.472C>T
NM_006015.4:c.472C>T
NP_624361.1:p.Pro158Ser
NP_006006.3:p.Pro158Ser
30/6955 0.0023 4 non_synonymous Likely Benign
View 1 27023759 27023759 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.865C>T
NM_006015.4:c.865C>T
NP_624361.1:p.Pro289Ser
NP_006006.3:p.Pro289Ser
4/6955 0.00029 4 non_synonymous Likely Benign
View 1 27100171 27100171 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.3967C>T
NM_006015.4:c.3967C>T
NP_624361.1:p.Arg1323Cys
NP_006006.3:p.Arg1323Cys
2/6955 0.00014 4 non_synonymous Likely Benign
View 1 27100181 27100182 - > GCA ARID1A TRNAN-GUU ARID1A NM_139135.2:c.3999_4001dupGCA
NM_006015.4:c.3999_4001dupGCA
NP_624361.1:p.Gln1334dup
NP_006006.3:p.Gln1334dup
34/6955 0.00252 4 in_frame_indel Likely Benign
View 1 27100369 27100369 A > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4081A>G
NM_006015.4:c.4081A>G
NP_624361.1:p.Met1361Val
NP_006006.3:p.Met1361Val
5/6955 0.00036 4 non_synonymous Likely Benign
View 1 27105617 27105617 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4577C>T
NM_006015.4:c.5228C>T
NP_624361.1:p.Thr1526Met
NP_006006.3:p.Thr1743Met
4/6955 0.00029 4 non_synonymous Likely Benign
View 1 27105700 27105700 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4660C>T
NM_006015.4:c.5311C>T
NP_624361.1:p.Pro1554Ser
NP_006006.3:p.Pro1771Ser
1/6955 7.0e-05 4 non_synonymous Likely Benign
View 1 27106106 27106106 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.5066G>A
NM_006015.4:c.5717G>A
NP_624361.1:p.Arg1689Gln
NP_006006.3:p.Arg1906Gln
43/6955 0.00309 4 non_synonymous Likely Benign
View 1 27121140 27121140 C > T PIGV TRNAN-GUU PIGV NM_001202554.1:c.615C>T
NM_017837.3:c.615C>T
NP_001189483.1:p.Asn205=
NP_060307.2:p.Asn205=
29/6955 0.00208 4 Likely Benign
Displaying 1 through 50 of 2,465 variants