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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 19367469 19367469 G > C PDHA1 NM_001173454.1:c.211G>C
NM_000284.3:c.97G>C
NM_001173455.1:c.97G>C
NM_001173456.1:c.97G>C
NP_001166925.1:p.Asp71His
NP_000275.1:p.Asp33His
NP_001166926.1:p.Asp33His
NP_001166927.1:p.Asp33His
2/6913 0.00022 3 non_synonymous Benign
View X 19375782 19375782 A > C PDHA1 NM_001173454.1:c.958A>C
NM_000284.3:c.844A>C
NM_001173455.1:c.865A>C
NM_001173456.1:c.751A>C
NP_001166925.1:p.Met320Leu
NP_000275.1:p.Met282Leu
NP_001166926.1:p.Met289Leu
NP_001166927.1:p.Met251Leu
58/6913 0.00622 5 Benign
View X 19379640 19379640 G > C PDHA1 MAP3K15 NM_001173454.1:c.*1869G>C
NM_001001671.3:c.3751C>G
NM_000284.3:c.*1869G>C
NM_001173455.1:c.*1869G>C
NM_001173456.1:c.*1869G>C
NP_001001671.3:p.Gln1251Glu
90/6913 0.00904 5 non_synonymous Benign
View X 32429940 32429940 A > C DMD ENST00000378677.2:c.4150T>G
NM_004007.2:c.3793T>G
ENST00000357033.4:c.4162T>G
ENSP00000367948.2:p.Phe1384Val
NP_003998.1:p.Phe1265Val
ENSP00000354923.3:p.Phe1388Val
55/6913 0.00528 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 32503227 32503227 G > C DMD ENST00000378677.2:c.2611-11C>G
NM_004007.2:c.2254-11C>G
ENST00000357033.4:c.2623-11C>G
73/6895 0.00754 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 32563301 32563301 T > A DMD ENST00000378677.2:c.2131A>T
NM_004007.2:c.1774A>T
ENST00000357033.4:c.2143A>T
ENSP00000367948.2:p.Thr711Ser
NP_003998.1:p.Thr592Ser
ENSP00000354923.3:p.Thr715Ser
17/6913 0.00166 5 non_synonymous Benign
View X 32613922 32613922 A > T DMD ENST00000378677.2:c.1542T>A
NM_004007.2:c.1185T>A
ENST00000357033.4:c.1554T>A
ENSP00000367948.2:p.Asp514Glu
NP_003998.1:p.Asp395Glu
ENSP00000354923.3:p.Asp518Glu
31/6913 0.00311 5 non_synonymous Benign
View X 32614000 32614000 G > C DMD NM_004007.2:c.1114-7C>G
ENST00000357033.4:c.1483-7C>G
ENST00000378677.2:c.1471-7C>G
9/6913 0.00094 5 polypyrimidine_tract Benign
View X 38145632 38145646 CTTCCTCCCCTTCTT > - RPGR NM_001034853.1:c.2606_2620del
NM_000328.2:c.1905+701_1905+715del
NP_001030025.1:p.Glu869_Glu873del
68/5119 0.00899 5 in_frame_indel Benign
View X 38156584 38156584 T > C RPGR NM_001034853.1:c.1367A>G
NM_000328.2:c.1367A>G
NP_001030025.1:p.Gln456Arg
NP_000319.1:p.Gln456Arg
79/5119 0.01016 3 non_synonymous Benign
View X 41043236 41043237 - > T USP9X NM_001039591.2:c.3149-8dupT
NM_001039590.2:c.3149-8dupT
40/5101 0.0048 5 polypyrimidine_tract Benign
View X 44732885 44732885 G > A KDM6A NM_021140.2:c.88G>A
NP_066963.2:p.Ala30Thr
10/5119 0.00117 5 non_synonymous Benign
View X 44935925 44935927 TTT > - KDM6A NM_021140.2:c.2703-7_2703-5del
70/5101 0.00696 5 polypyrimidine_tract Benign
View X 47478976 47478976 G > C SYN1 NM_006950.3:c.152C>G
NM_133499.2:c.152C>G
NP_008881.2:p.Ala51Gly
NP_598006.1:p.Ala51Gly
25/5119 0.00313 5 Benign
View X 47487668 47487668 C > T CFP NM_002621.2:c.236G>A
NM_001145252.1:c.236G>A
NP_002612.1:p.Arg79Gln
NP_001138724.1:p.Arg79Gln
1/6913 7.0e-05 5 non_synonymous Benign
View X 48547112 48547112 T > C WAS NM_000377.2:c.995T>C
NP_000368.1:p.Val332Ala
69/6913 0.00571 5 Benign
View X 48547748 48547748 C > T WAS NM_000377.2:c.1378C>T
NP_000368.1:p.Pro460Ser
21/6913 0.00195 5 Benign
View X 50341377 50341377 C > A SHROOM4 NM_020717.3:c.4101G>T
NR_027121.1:n.4127G>T
NP_065768.2:p.Leu1367Phe
64/6913 0.006 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 50350995 50350995 C > T SHROOM4 NM_020717.3:c.3147G>A
NR_027121.1:n.3173G>A
NP_065768.2:p.Met1049Ile
34/6913 0.00325 5 non_synonymous Benign
View X 53263460 53263460 C > T IQSEC2 NM_001111125.2:c.4408G>A
NM_015075.1:c.*893G>A
NP_001104595.1:p.Ala1470Thr
69/5119 0.00869 3 non_synonymous Benign
View X 53602185 53602185 A > T HUWE1 NM_031407.5:c.6031-4T>A
25/6913 0.00246 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 53607786 53607786 C > T HUWE1 NM_031407.5:c.5716+5G>A
25/6913 0.00246 5 five_prime_flank Benign
View X 53635887 53635887 G > T HUWE1 NM_031407.5:c.2262-17C>A
34/6895 0.00355 5 three_prime_flank Benign
View X 67426446 67426446 G > A OPHN1 NM_002547.2:c.902C>T
NP_002538.1:p.Thr301Met
14/6913 0.00145 5 non_synonymous Benign
View X 68059812 68059812 C > T EFNB1 NM_004429.4:c.509C>T
NP_004420.1:p.Ala170Val
18/6913 0.00181 5 non_synonymous Benign
View X 68836358 68836358 G > T EDA NM_001399.4:c.206G>T
NM_001005609.1:c.206G>T
NM_001005613.2:c.206G>T
NM_001005612.2:c.206G>T
NM_001005610.2:c.206G>T
NP_001390.1:p.Arg69Leu
NP_001005609.1:p.Arg69Leu
NP_001005613.1:p.Arg69Leu
NP_001005612.2:p.Arg69Leu
NP_001005610.2:p.Arg69Leu
60/6913 0.00622 4 Benign
View X 69563562 69563562 G > T KIF4A ENST00000374403.3:c.1276G>T
ENSP00000363524.3:p.Ala426Ser
8/5119 0.00117 3 non_synonymous Benign
View X 69665355 69665355 G > A DLG3 NM_021120.3:c.304G>A
NP_066943.2:p.Gly102Ser
38/6913 0.00376 5 non_synonymous Benign
View X 70357135 70357135 G > A MED12 NM_005120.2:c.5650G>A
NP_005111.2:p.Gly1884Ser
19/6913 0.00203 5 non_synonymous Benign
View X 73960146 73960146 G > A KIAA2022 NM_001008537.2:c.4246C>T
NP_001008537.1:p.Pro1416Ser
41/5119 0.00518 5 non_synonymous Benign
View X 76856021 76856021 T > C ATRX NM_138270.2:c.5465A>G
NM_000489.3:c.5579A>G
NP_612114.1:p.Asn1822Ser
NP_000480.2:p.Asn1860Ser
74/6913 0.00673 5 Benign
View X 76938153 76938153 G > C ATRX NM_138270.2:c.2481C>G
NM_000489.3:c.2595C>G
NP_612114.1:p.His827Gln
NP_000480.2:p.His865Gln
71/6913 0.00716 5 non_synonymous Benign
View X 77224487 77224487 C > T PGAM4 ATP7A NM_001029891.2:c.649G>A
NM_000052.5:c.-21-2631C>T
NP_001025062.1:p.Val217Ile
2/6895 0.00022 3 non_synonymous Benign
View X 100630121 100630121 G > A BTK NM_000061.2:c.141+11C>T
74/6898 0.00732 5 Benign
View X 100662901 100662901 G > A GLA RPL36A-HNRNPH2 NM_000169.2:c.-10C>T
NM_001199973.1:c.409-4023G>A
NM_001199974.1:c.286-4023G>A
729/6913 0.07269 5 ClinVar non-pathogenic variant Benign
View X 107834411 107834411 C > A COL4A5 NM_000495.4:c.1289C>A
NM_033380.2:c.1289C>A
NP_000486.1:p.Ala430Asp
NP_203699.1:p.Ala430Asp
41/6913 0.00376 5 non_synonymous Benign
View X 119005968 119005968 G > C NDUFA1 NM_004541.3:c.94G>C
NP_004532.1:p.Gly32Arg
58/6913 0.00514 5 ClinVar pathogenic variant Benign
View X 119573071 119573071 C > T LAMP2 NM_013995.2:c.1171G>A
NM_001122606.1:c.1093+2514G>A
NM_002294.2:c.1093+2514G>A
NP_054701.1:p.Val391Ile
54/5119 0.00654 5 Benign
View X 123480540 123480540 C > T SH2D1A NM_002351.4:c.48C>T
NM_001114937.2:c.48C>T
NM_002351.4:c.48C>T(p.%3D)
NM_001114937.2:c.48C>T(p.%3D)
28/6913 0.00253 5 Benign
View X 135067686 135067686 G > T SLC9A6 NM_001177651.1:c.-57+50G>T
NM_001042537.1:c.25G>T
NM_006359.2:c.25G>T
NP_001036002.1:p.Ala9Ser
NP_006350.1:p.Ala9Ser
31/6913 0.00275 5 non_synonymous Benign
View X 139586919 139586919 G > T SOX3 NM_005634.2:c.307C>A
NP_005625.2:p.Pro103Thr
45/6913 0.00448 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587099 139587099 C > T SOX3 NM_005634.2:c.127G>A
NP_005625.2:p.Ala43Thr
68/6913 0.00702 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587212 139587212 C > T SOX3 NM_005634.2:c.14G>A
NP_005625.2:p.Arg5Gln
21/6913 0.00188 5 non_synonymous Benign
View X 147919205 147919205 C > A AFF2 NM_001169124.1:c.1087-5285C>A
NM_001169125.1:c.1075-5285C>A
NM_001170628.1:c.97-5285C>A
NM_001169122.1:c.1075-5285C>A
NM_002025.3:c.1121C>A
NM_001169123.1:c.1109C>A
NP_002016.2:p.Ser374Tyr
NP_001162594.1:p.Ser370Tyr
4/6913 0.00036 5 non_synonymous Benign
View X 152954025 152954025 A > G SLC6A8 NM_005629.3:c.-5A>G
NM_001142805.1:c.-5A>G
4527/6913 0.65088 5 ClinVar non-pathogenic variant Benign
View X 152959980 152959980 C > T SLC6A8 NM_001142806.1:c.1151-8C>T
NM_005629.3:c.1496-8C>T
NM_001142805.1:c.1466-8C>T
12/6913 0.00094 5 Benign
View X 152969508 152969508 G > A BCAP31 NM_001139457.2:c.584C>T
NM_001256447.1:c.383C>T
NM_005745.7:c.383C>T
NM_001139441.1:c.383C>T
NP_001132929.1:p.Thr195Met
NP_001243376.1:p.Thr128Met
NP_005736.3:p.Thr128Met
NP_001132913.1:p.Thr128Met
23/5119 0.00313 5 non_synonymous Benign
View X 153130543 153130543 G > C L1CAM NM_000425.4:c.2872C>G
NM_001143963.2:c.2857C>G
NM_001278116.1:c.2872C>G
NM_024003.3:c.2872C>G
NP_000416.1:p.Leu958Val
NP_001137435.1:p.Leu953Val
NP_001265045.1:p.Leu958Val
NP_076493.1:p.Leu958Val
14/6913 0.0013 5 non_synonymous Benign
View X 153132233 153132233 C > T L1CAM NM_024003.3:c.2302G>A
NM_001278116.1:c.2302G>A
NM_001143963.2:c.2287G>A
NM_000425.4:c.2302G>A
NP_076493.1:p.Val768Ile
NP_001265045.1:p.Val768Ile
NP_001137435.1:p.Val763Ile
NP_000416.1:p.Val768Ile
36/6913 0.00347 5 Benign
View X 153141264 153141264 G > A L1CAM NM_024003.3:c.28C>T
NM_001278116.1:c.28C>T
NM_001143963.2:c.28C>T
NM_000425.4:c.28C>T
NP_076493.1:p.Pro10Ser
NP_001265045.1:p.Pro10Ser
NP_001137435.1:p.Pro10Ser
NP_000416.1:p.Pro10Ser
24/6913 0.00231 5 non_synonymous Benign
Displaying 500 through 550 of 560 variants