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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
64/6213 0.00523 4 non_synonymous Likely Benign
View 1 978974 978974 G > A AGRN NM_198576.3:c.1660G>A
NP_940978.2:p.Val554Met
67/6213 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
66/6213 0.00531 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
110/6213 0.00885 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
131/6213 0.01054 4 non_synonymous Likely Benign
View 1 1273790 1273790 T > C DVL1 NM_004421.2:c.1291A>G
NP_004412.2:p.Thr431Ala
42/6213 0.00338 4 non_synonymous Likely Benign
View 1 1277040 1277041 CA > - DVL1 NM_004421.2:c.605+6_605+7del
21/6213 0.00169 3 five_prime_flank Likely Benign
View 1 2234791 2234791 C > T SKI NM_003036.3:c.1163C>T
NP_003027.1:p.Ala388Val
80/6213 0.00644 4 Likely Benign
View 1 2234824 2234824 C > T SKI NM_003036.3:c.1196C>T
NP_003027.1:p.Ala399Val
5/6213 0.0004 4 non_synonymous Likely Benign
View 1 2338250 2338250 C > G PEX10 PEX10 NM_002617.3:c.685G>C
NM_153818.1:c.745G>C
NP_002608.1:p.Val229Leu
NP_722540.1:p.Val249Leu
28/8004 0.00181 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
36/8004 0.00225 4 Likely Benign
View 1 5965750 5965750 G > C NPHP4 NM_015102.3:c.1705C>G
NP_055917.1:p.Gln569Glu
22/8004 0.00137 4 Likely Benign
View 1 6027365 6027365 C > T NPHP4 NM_015102.3:c.511G>A
NP_055917.1:p.Ala171Thr
20/8004 0.00125 4 Likely Benign
View 1 6504654 6504654 T > G ESPN NM_031475.2:c.1104T>G
NP_113663.2:p.Phe368Leu
10/6213 0.0008 4 non_synonymous Likely Benign
View 1 7724562 7724562 C > T CAMTA1 NM_015215.2:c.1955C>T
NP_056030.1:p.Ser652Leu
37/6213 0.00306 4 non_synonymous Likely Benign
View 1 7792679 7792679 C > T CAMTA1 NM_015215.2:c.3066+20C>T
12/6174 0.00097 4 five_prime_intronic Likely Benign
View 1 8415618 8415618 G > T RERE RERE RERE NM_001042682.1:c.2866C>A
NM_012102.3:c.4528C>A
NM_001042681.1:c.4528C>A
NP_001036147.1:p.Pro956Thr
NP_036234.3:p.Pro1510Thr
NP_001036146.1:p.Pro1510Thr
25/6213 0.00201 4 non_synonymous Likely Benign
View 1 8420065 8420065 C > A RERE RERE RERE NM_001042682.1:c.1734-19G>T
NM_012102.3:c.3396-19G>T
NM_001042681.1:c.3396-19G>T
2/6174 0.00016 4 three_prime_flank Likely Benign
View 1 8421096 8421096 G > A RERE RERE RERE NM_001042682.1:c.809C>T
NM_012102.3:c.2471C>T
NM_001042681.1:c.2471C>T
NP_001036147.1:p.Pro270Leu
NP_036234.3:p.Pro824Leu
NP_001036146.1:p.Pro824Leu
5/6213 0.0004 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
11/6213 0.00089 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
38/6174 0.00308 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
12/6213 0.00097 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
52/6213 0.00418 4 non_synonymous Likely Benign
View 1 10436626 10436626 C > T KIF1B NM_015074.3:c.5294C>T
NP_055889.2:p.Pro1765Leu
53/6213 0.00427 4 non_synonymous Likely Benign
View 1 17355075 17355075 A > T TRNAN-GUU SDHB NM_003000.2:c.423+20T>A
38/6174 0.00316 4 Likely Benign
View 1 17371286 17371286 T > C TRNAN-GUU SDHB NM_003000.2:c.170A>G
NP_002991.2:p.His57Arg
7/6213 0.00056 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
22/6213 0.00177 4 non_synonymous Likely Benign
View 1 21554554 21554554 A > C TRNAN-GUU ECE1 ECE1 ECE1 ECE1 NM_001113348.1:c.1623-20T>G
NM_001397.2:c.1671-20T>G
NM_001113349.1:c.1662-20T>G
NM_001113347.1:c.1635-20T>G
94/6175 0.00761 4 three_prime_flank Likely Benign
View 1 21564631 21564631 C > T TRNAN-GUU ECE1 ECE1 ECE1 ECE1 NM_001113348.1:c.1337G>A
NM_001397.2:c.1385G>A
NM_001113349.1:c.1376G>A
NM_001113347.1:c.1349G>A
NP_001106819.1:p.Ser446Asn
NP_001388.1:p.Ser462Asn
NP_001106820.1:p.Ser459Asn
NP_001106818.1:p.Ser450Asn
64/6213 0.00515 4 non_synonymous Likely Benign
View 1 21903947 21903947 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.1216G>A
ENST00000539907.1:c.1150G>A
ENST00000374840.3:c.1381G>A
ENSP00000442672.1:p.Val406Ile
ENSP00000437674.1:p.Val384Ile
ENSP00000363973.3:p.Val461Ile
29/8004 0.00181 4 Likely Benign
View 1 22155561 22155561 G > C TRNAN-GUU HSPG2 NM_005529.5:c.12004C>G
NP_005520.4:p.Leu4002Val
7/8004 0.00044 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
44/8004 0.00281 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 22166034 22166034 G > A TRNAN-GUU HSPG2 NM_005529.5:c.9719C>T
NP_005520.4:p.Ala3240Val
51/8004 0.00319 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
82/8004 0.00512 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
52/6174 0.00421 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
11/8004 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
164/8004 0.01068 4 non_synonymous Likely Benign
View 1 24687371 24687371 C > T STPG1 STPG1 TRNAN-GUU GRHL3 STPG1 STPG1 NM_178122.4:c.757G>A
NM_001199014.1:c.622G>A
NM_198174.2:c.1695-3304C>T
NM_001199012.1:c.898G>A
NM_001199013.1:c.898G>A
NP_835223.1:p.Ala253Thr
NP_001185943.1:p.Ala208Thr
NP_001185941.1:p.Ala300Thr
NP_001185942.1:p.Ala300Thr
63/6174 0.0051 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
24/6213 0.00209 4 non_synonymous Likely Benign
View 1 27023759 27023759 C > T TRNAN-GUU ARID1A ARID1A NM_006015.4:c.865C>T
NM_139135.2:c.865C>T
NP_006006.3:p.Pro289Ser
NP_624361.1:p.Pro289Ser
4/6213 0.00032 4 non_synonymous Likely Benign
View 1 27100171 27100171 C > T ARID1A TRNAN-GUU ARID1A NM_006015.4:c.3967C>T
NM_139135.2:c.3967C>T
NP_006006.3:p.Arg1323Cys
NP_624361.1:p.Arg1323Cys
2/6213 0.00016 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
34/6213 0.00282 4 in_frame_indel Likely Benign
View 1 27100369 27100369 A > G TRNAN-GUU ARID1A ARID1A NM_006015.4:c.4081A>G
NM_139135.2:c.4081A>G
NP_006006.3:p.Met1361Val
NP_624361.1:p.Met1361Val
5/6213 0.0004 4 non_synonymous 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
4/6213 0.00032 4 non_synonymous Likely Benign
View 1 27105700 27105700 C > T TRNAN-GUU ARID1A ARID1A NM_006015.4:c.5311C>T
NM_139135.2:c.4660C>T
NP_006006.3:p.Pro1771Ser
NP_624361.1:p.Pro1554Ser
1/6213 8.0e-05 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
37/6213 0.00298 4 non_synonymous Likely Benign
View 1 27121140 27121140 C > T TRNAN-GUU PIGV PIGV NM_017837.3:c.615C>T
NM_001202554.1:c.615C>T
NP_060307.2:p.Asn205=
NP_001189483.1:p.Asn205=
20/6213 0.00161 4 Likely Benign
View 1 27683230 27683232 CTT > - TRNAN-GUU MAP3K6 NM_004672.3:c.3373_3375del
NP_004663.3:p.Lys1125del
126/6213 0.01014 4 in_frame_indel Likely Benign
View 1 27684750 27684750 G > A TRNAN-GUU MAP3K6 NM_004672.3:c.2837C>T
NP_004663.3:p.Pro946Leu
39/6213 0.00314 4 Likely Benign
View 1 27877117 27877117 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1510G>A
NP_001025053.1:p.Val504Met
18/6213 0.00145 4 non_synonymous Likely Benign
Displaying 1 through 50 of 2,310 variants