Download: Excel

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
48/4281 0.00572 4 non_synonymous Likely Benign
View 1 982213 982213 G > C AGRN NM_198576.3:c.3264G>C
NP_940978.2:p.Leu1088Phe
81/4281 0.00946 4 non_synonymous Likely Benign
View 1 1277040 1277041 CA > - DVL1 NM_004421.2:c.605+6_605+7del
10/4281 0.00117 3 five_prime_flank Likely Benign
View 1 2234791 2234791 C > T SKI NM_003036.3:c.1163C>T
NP_003027.1:p.Ala388Val
57/4281 0.00666 1 Likely Benign
View 1 2338250 2338250 C > G PEX10 NM_153818.1:c.745G>C
NM_002617.3:c.685G>C
NP_722540.1:p.Val249Leu
NP_002608.1:p.Val229Leu
20/6075 0.00173 3 non_synonymous Likely Benign
View 1 5935064 5935064 T > C NPHP4 NM_015102.3:c.2914A>G
NP_055917.1:p.Ser972Gly
26/6075 0.00214 4 Likely Benign
View 1 5965750 5965750 G > C NPHP4 NM_015102.3:c.1705C>G
NP_055917.1:p.Gln569Glu
18/6075 0.00148 4 Likely Benign
View 1 6027365 6027365 C > T NPHP4 NM_015102.3:c.511G>A
NP_055917.1:p.Ala171Thr
16/6075 0.00132 4 Likely Benign
View 1 6504654 6504654 T > G ESPN NM_031475.2:c.1104T>G
NP_113663.2:p.Phe368Leu
6/4281 0.0007 4 non_synonymous Likely Benign
View 1 7724562 7724562 C > T CAMTA1 NM_015215.2:c.1955C>T
NP_056030.1:p.Ser652Leu
25/4281 0.00304 4 non_synonymous Likely Benign
View 1 8421875 8421875 G > A 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
11/4281 0.00128 4 non_synonymous Likely Benign
View 1 10364260 10364260 A > G KIF1B NM_183416.3:c.3017A>G
NM_015074.3:c.1977+6956A>G
NP_904325.2:p.Glu1006Gly
38/4281 0.00444 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
5/6075 0.00041 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
37/6075 0.00305 4 non_synonymous Likely Benign
View 1 24181041 24181041 C > T TRNAN-GUU FUCA1 NM_000147.4:c.778G>A
NP_000138.2:p.Val260Ile
10/6075 0.00082 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
110/6075 0.00955 4 non_synonymous Likely Benign
View 1 27023366 27023366 C > T TRNAN-GUU ARID1A NM_006015.4:c.472C>T
NM_139135.2:c.472C>T
NP_006006.3:p.Pro158Ser
NP_624361.1:p.Pro158Ser
19/4281 0.00245 4 non_synonymous Likely Benign
View 1 27100181 27100182 - > GCA TRNAN-GUU ARID1A NM_006015.4:c.3999_4001dupGCA
NM_139135.2:c.3999_4001dupGCA
NP_006006.3:p.Gln1334dup
NP_624361.1:p.Gln1334dup
27/4281 0.00327 4 in_frame_indel Likely Benign
View 1 27105617 27105617 C > T TRNAN-GUU ARID1A NM_006015.4:c.5228C>T
NM_139135.2:c.4577C>T
NP_006006.3:p.Thr1743Met
NP_624361.1:p.Thr1526Met
4/4281 0.00047 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
11/4281 0.00128 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
81/4281 0.00958 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
56/4281 0.00654 4 non_synonymous Likely Benign
View 1 27878341 27878341 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.286C>T
NP_001025053.1:p.Arg96Cys
3/4281 0.00035 4 non_synonymous Likely Benign
View 1 33478877 33478877 C > T TRNAN-GUU 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
66/4281 0.00794 4 non_synonymous Likely Benign
View 1 43907225 43907225 T > C TRNAN-GUU SZT2 NM_015284.3:c.7391T>C
NP_056099.3:p.Val2464Ala
58/4281 0.00701 4 non_synonymous Likely Benign
View 1 47746113 47746113 T > C TRNAN-GUU STIL NM_001048166.1:c.2017A>G
NM_003035.2:c.2017A>G
NP_001041631.1:p.Ser673Gly
NP_003026.2:p.Ser673Gly
28/4281 0.00339 4 non_synonymous Likely Benign
View 1 47753301 47753301 C > T TRNAN-GUU STIL NM_001048166.1:c.1055G>A
NM_003035.2:c.1055G>A
NP_001041631.1:p.Arg352His
NP_003026.2:p.Arg352His
10/4281 0.00117 3 non_synonymous Likely Benign
View 1 63063616 63063616 C > T TRNAN-GUU DOCK7 ANGPTL3 NM_033407.3:c.1683-11321G>A
NM_001272000.1:c.1683-11321G>A
NM_001271999.1:c.1683-11321G>A
NM_001272001.1:c.1683-11321G>A
NM_014495.3:c.379C>T
NM_001272002.1:c.1683-11321G>A
NP_055310.1:p.Leu127Phe
57/4282 0.00677 4 non_synonymous Likely Benign
View 1 63091086 63091086 A > - DOCK7 TRNAN-GUU NM_001272002.1:c.1283-14del
NM_001272001.1:c.1283-14del
NM_001271999.1:c.1283-14del
NM_001272000.1:c.1283-14del
NM_033407.3:c.1283-14del
67/4281 0.00794 4 polypyrimidine_tract Likely Benign
View 1 63877667 63877667 A > G TRNAN-GUU ALG6 NM_013339.3:c.751A>G
NP_037471.2:p.Thr251Ala
29/6075 0.00247 4 non_synonymous Likely Benign
View 1 95538424 95538424 C > T TRNAN-GUU ALG14 NM_144988.3:c.31G>A
NP_659425.1:p.Ala11Thr
72/4281 0.00841 4 non_synonymous Likely Benign
View 1 98144726 98144726 T > C TRNAN-GUU DPYD ENST00000370192.3:c.775A>G
ENSP00000359211.3:p.Lys259Glu
68/6264 0.00567 4 Likely Benign
View 1 100382236 100382236 C > G AGL TRNAN-GUU NM_000642.2:c.4430C>G
NM_000644.2:c.4430C>G
NM_000646.2:c.4382C>G
NM_000645.2:c.4379C>G
NM_000028.2:c.4430C>G
NM_000643.2:c.4430C>G
NP_000633.2:p.Thr1477Ser
NP_000635.2:p.Thr1477Ser
NP_000637.2:p.Thr1461Ser
NP_000636.2:p.Thr1460Ser
NP_000019.2:p.Thr1477Ser
NP_000634.2:p.Thr1477Ser
17/6075 0.0014 3 non_synonymous Likely Benign
View 1 100671780 100671780 A > C DBT TRNAN-GUU ENST00000370132.4:c.1281+6T>G
112/6075 0.01004 4 five_prime_flank Likely Benign
View 1 110740918 110740918 A > G SLC6A17 TRNAN-GUU NM_001010898.2:c.2036A>G
NP_001010898.1:p.Lys679Arg
44/4281 0.00514 4 non_synonymous Likely Benign
View 1 114438448 114438448 T > C AP4B1 TRNAN-GUU AP4B1-AS1 NM_001253852.1:c.1723A>G
NM_001253853.1:c.1426A>G
NR_037864.1:n.247-2042T>C
NM_006594.3:c.1723A>G
NP_001240781.1:p.Ile575Val
NP_001240782.1:p.Ile476Val
NP_006585.2:p.Ile575Val
48/4281 0.00561 4 non_synonymous Likely Benign
View 1 120298113 120298113 G > C TRNAN-GUU HMGCS2 NM_001166107.1:c.998C>G
NM_005518.3:c.1124C>G
NP_001159579.1:p.Ser333Cys
NP_005509.1:p.Ser375Cys
1/4281 0.00012 4 non_synonymous Likely Benign
View 1 150484844 150484844 A > T ECM1 NM_022664.2:c.725A>T
NM_004425.3:c.1100A>T
NM_001202858.1:c.1181A>T
NP_073155.2:p.Asp242Val
NP_004416.2:p.Asp367Val
NP_001189787.1:p.Asp394Val
76/4281 0.00888 3 non_synonymous Likely Benign
View 1 153784559 153784559 G > A GATAD2B NM_020699.2:c.1469C>T
NP_065750.1:p.Ala490Val
70/4281 0.00818 4 non_synonymous Likely Benign
View 1 153790569 153790569 G > C GATAD2B NM_020699.2:c.676C>G
NP_065750.1:p.Pro226Ala
7/4282 0.00093 4 non_synonymous Likely Benign
View 1 154544490 154544490 G > C CHRNB2 NM_000748.2:c.1191G>C
NP_000739.1:p.Gln397His
75/4281 0.00911 4 non_synonymous Likely Benign
View 1 154570903 154570903 T > C ADAR NM_001025107.2:c.875A>G
ENST00000529168.1:c.1745A>G
ENST00000368474.4:c.1760A>G
NM_001193495.1:c.875A>G
NP_001020278.1:p.Tyr292Cys
ENSP00000431794.1:p.Tyr582Cys
ENSP00000357459.4:p.Tyr587Cys
NP_001180424.1:p.Tyr292Cys
18/4281 0.0021 4 non_synonymous Likely Benign
View 1 154901525 154901525 A > G PMVK NM_006556.3:c.287T>C
NP_006547.1:p.Val96Ala
43/4281 0.00502 4 non_synonymous Likely Benign
View 1 155206037 155206037 G > A GBA NM_001005742.2:c.1223C>T
NM_001171812.1:c.1076C>T
NM_000157.3:c.1223C>T
NM_001171811.1:c.962C>T
NM_001005741.2:c.1223C>T
NP_001005742.1:p.Thr408Met
NP_001165283.1:p.Thr359Met
NP_000148.2:p.Thr408Met
NP_001165282.1:p.Thr321Met
NP_001005741.1:p.Thr408Met
57/6075 0.00469 4 Likely Benign
View 1 156100408 156100408 C > T LMNA NM_170707.3:c.357C>T
NR_047544.1:n.998C>T
NM_001257374.1:c.21C>T
NR_047545.1:n.245C>T
NM_170708.3:c.357C>T
NM_005572.3:c.357C>T
NM_170707.3:c.357C>T(p.%3D)
NM_001257374.1:c.21C>T(p.%3D)
NM_170708.3:c.357C>T(p.%3D)
NM_005572.3:c.357C>T(p.%3D)
30/4934 0.00314 4 Likely Benign
View 1 156851382 156851382 G > A NTRK1 NM_001007792.1:c.2231G>A
NM_002529.3:c.2339G>A
NM_001012331.1:c.2321G>A
NP_001007793.1:p.Arg744Gln
NP_002520.2:p.Arg780Gln
NP_001012331.1:p.Arg774Gln
90/6075 0.00749 4 Likely Benign
View 1 158587368 158587368 T > C SPTA1 NM_003126.2:c.6559A>G
NP_003117.2:p.Lys2187Glu
20/4281 0.00234 4 non_synonymous Likely Benign
View 1 160090708 160090708 T > A ATP1A2 NM_000702.3:c.25T>A
NP_000693.1:p.Tyr9Asn
34/4281 0.00397 4 Likely Benign
View 1 160249362 160249362 A > G PEX19 NR_036492.1:n.796T>C
NR_036493.1:n.820T>C
NM_001193644.1:c.827T>C
NM_002857.3:c.879T>C
NP_001180573.1:p.Val276Ala
NM_002857.3:c.879T>C(p.%3D)
43/4282 0.00514 4 non_synonymous Likely Benign
View 1 161180482 161180482 G > A NDUFS2 NM_001166159.1:c.968G>A
NM_004550.4:c.968G>A
NP_001159631.1:p.Arg323Gln
NP_004541.1:p.Arg323Gln
42/4281 0.00514 4 Likely Benign
Displaying 1 through 50 of 860 variants