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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View MT 15235 15235 A > G MT-CYB ENST00000361789.2:c.489A>G
ENSP00000354554.2:p.Trp163=
7/11383 0.00048 3 mitochondrial_gene_context Benign
View MT 15470 15470 T > C MT-CYB ENST00000361789.2:c.724T>C
ENSP00000354554.2:p.Leu242=
16/11383 0.00123 5 mitochondrial_gene_context Benign
View MT 15746 15746 A > G MT-CYB ENST00000361789.2:c.1000A>G
ENSP00000354554.2:p.Ile334Val
43/11383 0.00321 5 mitochondrial_gene_context Benign
View X 2852951 2852951 G > A ARSE NM_000047.2:c.1692C>T
NP_000038.2:p.Asn564=
7916/11422 0.58068 4 Benign
View X 2856155 2856155 C > T ARSE NM_000047.2:c.1270G>A
NP_000038.2:p.Gly424Ser
8216/11422 0.61211 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 2867651 2867651 C > T ARSE NM_000047.2:c.548G>A
NP_000038.2:p.Arg183His
98/11422 0.00573 5 non_synonymous Benign
View X 6146223 6146223 C > T NLGN4X NM_181332.1:c.-306+359G>A
231/4826 0.03533 5 Benign
View X 10491233 10491234 - > AA MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 NM_001193281.1:c.547-8_547-7dupTT
NM_001193280.1:c.547-8_547-7dupTT
NM_033289.1:c.547-8_547-7dupTT
NM_001098624.2:c.661-8_661-7dupTT
NM_001193279.1:c.661-8_661-7dupTT
NM_001193278.1:c.661-8_661-7dupTT
NM_001193277.1:c.661-8_661-7dupTT
NM_033290.3:c.661-8_661-7dupTT
NM_000381.3:c.661-8_661-7dupTT
64/11422 0.00346 4 Common dbSNP MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 10491236 10491236 A > - MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 NM_001193281.1:c.547-7del
NM_001193280.1:c.547-7del
NM_033289.1:c.547-7del
NM_001098624.2:c.661-7del
NM_001193279.1:c.661-7del
NM_001193278.1:c.661-7del
NM_001193277.1:c.661-7del
NM_033290.3:c.661-7del
NM_000381.3:c.661-7del
57/11422 0.0025 5 polypyrimidine_tract Benign
View X 10491236 10491237 - > A MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 NM_001193281.1:c.547-7dupT
NM_001193280.1:c.547-7dupT
NM_033289.1:c.547-7dupT
NM_001098624.2:c.661-7dupT
NM_001193279.1:c.661-7dupT
NM_001193278.1:c.661-7dupT
NM_001193277.1:c.661-7dupT
NM_033290.3:c.661-7dupT
NM_000381.3:c.661-7dupT
34/11422 0.00149 5 polypyrimidine_tract Benign
View X 12725043 12725045 TTT > - FRMPD4 NM_014728.3:c.1287+24_1287+26del
111/9594 0.00594 5 five_prime_intronic Benign
View X 13786819 13786819 C > T OFD1 NM_003611.2:c.2929-18C>T
151/11384 0.00826 5 three_prime_flank Benign
View X 14862794 14862794 C > T FANCB FANCB NM_001018113.1:c.1996G>A
NM_152633.2:c.1996G>A
NP_001018123.1:p.Gly666Ser
NP_689846.1:p.Gly666Ser
16/9594 0.00104 5 non_synonymous Benign
View X 15353610 15353610 G > A PIGA PIGA PIGA PIGA NM_002641.3:c.-63+13C>T
NR_033835.1:n.54+13C>T
NR_033836.1:n.54+13C>T
NM_020473.3:c.13+13C>T
28/9555 0.00194 5 five_prime_intronic Benign
View X 18671566 18671566 G > A CDKL5 CDKL5 RS1 NM_001037343.1:c.2995G>A
NM_003159.2:c.2995G>A
NM_000330.3:c.184+3207C>T
NP_001032420.1:p.Val999Met
NP_003150.1:p.Val999Met
129/10295 0.0084 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 18938161 18938161 G > T PHKA2 NM_000292.2:c.1952C>A
NP_000283.1:p.Thr651Asn
90/9594 0.00615 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 19364612 19364612 A > T PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.57+2400A>T
NM_001173456.1:c.57+2400A>T
NM_001173455.1:c.57+2400A>T
NM_001173454.1:c.58-16A>T
118/11384 0.00663 5 three_prime_flank Benign
View X 19364694 19364694 G > A PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.57+2482G>A
NM_001173456.1:c.57+2482G>A
NM_001173455.1:c.57+2482G>A
NM_001173454.1:c.124G>A
NP_001166925.1:p.Gly42Ser
91/11422 0.00556 5 non_synonymous Benign
View X 19367469 19367469 G > C PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.97G>C
NM_001173456.1:c.97G>C
NM_001173455.1:c.97G>C
NM_001173454.1:c.211G>C
NP_000275.1:p.Asp33His
NP_001166927.1:p.Asp33His
NP_001166926.1:p.Asp33His
NP_001166925.1:p.Asp71His
5/11422 0.00035 3 non_synonymous Benign
View X 19373890 19373890 C > T PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.831+15C>T
NM_001173456.1:c.738+15C>T
NM_001173455.1:c.852+15C>T
NM_001173454.1:c.945+15C>T
65/11383 0.00378 5 five_prime_intronic Benign
View X 19375782 19375782 A > C PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.844A>C
NM_001173456.1:c.751A>C
NM_001173455.1:c.865A>C
NM_001173454.1:c.958A>C
NP_000275.1:p.Met282Leu
NP_001166927.1:p.Met251Leu
NP_001166926.1:p.Met289Leu
NP_001166925.1:p.Met320Leu
110/11422 0.00692 5 Benign
View X 19379640 19379640 G > C PDHA1 MAP3K15 PDHA1 PDHA1 PDHA1 NM_000284.3:c.*1869G>C
NM_001001671.3:c.3751C>G
NM_001173456.1:c.*1869G>C
NM_001173455.1:c.*1869G>C
NM_001173454.1:c.*1869G>C
NP_001001671.3:p.Gln1251Glu
126/11422 0.00757 5 non_synonymous Benign
View X 31792064 31792064 T > C DMD DMD DMD DMD DMD DMD DMD ENST00000474231.1:c.162+13A>G
ENST00000343523.2:c.162+13A>G
ENST00000378677.2:c.7530+13A>G
ENST00000359836.1:c.162+13A>G
ENST00000378707.3:c.162+13A>G
ENST00000357033.4:c.7542+13A>G
ENST00000541735.1:c.162+13A>G
90/11384 0.00518 5 five_prime_intronic Benign
View X 32383146 32383146 A > T DMD DMD ENST00000378677.2:c.5004T>A
ENST00000357033.4:c.5016T>A
ENSP00000367948.2:p.Asn1668Lys
ENSP00000354923.3:p.Asn1672Lys
79/11422 0.0046 5 Benign
View X 32429940 32429940 A > C DMD DMD ENST00000378677.2:c.4150T>G
ENST00000357033.4:c.4162T>G
ENSP00000367948.2:p.Phe1384Val
ENSP00000354923.3:p.Phe1388Val
110/11422 0.00639 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 32503227 32503227 G > C DMD DMD ENST00000378677.2:c.2611-11C>G
ENST00000357033.4:c.2623-11C>G
133/11384 0.00791 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 32563301 32563301 T > A DMD DMD ENST00000378677.2:c.2131A>T
ENST00000357033.4:c.2143A>T
ENSP00000367948.2:p.Thr711Ser
ENSP00000354923.3:p.Thr715Ser
34/11422 0.00193 5 non_synonymous Benign
View X 32613922 32613922 A > T DMD DMD ENST00000378677.2:c.1542T>A
ENST00000357033.4:c.1554T>A
ENSP00000367948.2:p.Asp514Glu
ENSP00000354923.3:p.Asp518Glu
50/11422 0.00302 5 non_synonymous Benign
View X 32614000 32614000 G > C DMD DMD ENST00000378677.2:c.1471-7C>G
ENST00000357033.4:c.1483-7C>G
14/11422 0.00088 5 polypyrimidine_tract Benign
View X 37663322 37663322 G > C CYBB NM_000397.3:c.1090G>C
NP_000388.2:p.Gly364Arg
55/9594 0.00391 5 non_synonymous Benign
View X 38145632 38145646 CTTCCTCCCCTTCTT > - RPGR RPGR NM_000328.2:c.1905+701_1905+715del
NM_001034853.1:c.2606_2620del
NP_001030025.1:p.Glu869_Glu873del
198/9594 0.01397 5 in_frame_indel Benign
View X 38156584 38156584 T > C RPGR RPGR NM_000328.2:c.1367A>G
NM_001034853.1:c.1367A>G
NP_000319.1:p.Gln456Arg
NP_001030025.1:p.Gln456Arg
141/9594 0.01006 3 non_synonymous Benign
View X 38160526 38160526 T > C RPGR RPGR NM_000328.2:c.1033A>G
NM_001034853.1:c.1033A>G
NP_000319.1:p.Asn345Asp
NP_001030025.1:p.Asn345Asp
129/9594 0.0087 5 non_synonymous Benign
View X 41043236 41043237 - > T USP9X USP9X NM_001039590.2:c.3149-8dupT
NM_001039591.2:c.3149-8dupT
111/9555 0.00769 5 polypyrimidine_tract Benign
View X 44732885 44732885 G > A KDM6A NM_021140.2:c.88G>A
NP_066963.2:p.Ala30Thr
16/9594 0.00099 5 non_synonymous Benign
View X 44921996 44921996 G > A KDM6A NM_021140.2:c.1527+3G>A
64/9594 0.00427 5 five_prime_flank Benign
View X 44935925 44935927 TTT > - KDM6A NM_021140.2:c.2703-7_2703-5del
144/9555 0.00764 5 polypyrimidine_tract Benign
View X 47433684 47433684 T > C SYN1 SYN1 NM_133499.2:c.1699A>G
NM_006950.3:c.1699A>G
NP_598006.1:p.Thr567Ala
NP_008881.2:p.Thr567Ala
52/9594 0.00396 5 Benign
View X 47444361 47444361 C > T SYN1 TIMP1 SYN1 NM_133499.2:c.775-7461G>A
NM_003254.2:c.148C>T
NM_006950.3:c.775-7461G>A
NP_003245.1:p.Pro50Ser
21/9594 0.00136 5 non_synonymous Benign
View X 47478976 47478976 G > C SYN1 SYN1 NM_133499.2:c.152C>G
NM_006950.3:c.152C>G
NP_598006.1:p.Ala51Gly
NP_008881.2:p.Ala51Gly
58/9594 0.00417 5 Benign
View X 47487668 47487668 C > T CFP CFP NM_001145252.1:c.236G>A
NM_002621.2:c.236G>A
NP_001138724.1:p.Arg79Gln
NP_002612.1:p.Arg79Gln
3/11422 0.00013 5 non_synonymous Benign
View X 48547112 48547112 T > C WAS NM_000377.2:c.995T>C
NP_000368.1:p.Val332Ala
103/11422 0.00538 5 Benign
View X 48547748 48547748 C > T WAS NM_000377.2:c.1378C>T
NP_000368.1:p.Pro460Ser
28/11422 0.00153 5 Benign
View X 48673306 48673306 G > C HDAC6 NM_006044.2:c.1059+6G>C
6/9594 0.00036 5 five_prime_flank Benign
View X 48681595 48681595 T > C HDAC6 NM_006044.2:c.2786T>C
NP_006035.2:p.Ile929Thr
8/9594 0.00063 5 non_synonymous Benign
View X 50341377 50341377 C > A SHROOM4 SHROOM4 NM_020717.3:c.4101G>T
NR_027121.1:n.4127G>T
NP_065768.2:p.Leu1367Phe
118/11422 0.00687 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 50350728 50350729 - > CC SHROOM4 SHROOM4 NM_020717.3:c.3413_3414insGG
NR_027121.1:n.3439_3440insGG
NP_065768.2:p.Glu1140LysfsTer42
78/11422 0.00438 5 frameshift Benign
View X 50350995 50350995 C > T SHROOM4 SHROOM4 NM_020717.3:c.3147G>A
NR_027121.1:n.3173G>A
NP_065768.2:p.Met1049Ile
61/11422 0.00359 5 non_synonymous Benign
View X 50653796 50653796 A > C BMP15 NM_005448.2:c.13A>C
NP_005439.2:p.Ser5Arg
138/9594 0.01006 5 Benign
View X 53222195 53222195 C > T KDM5C KDM5C NM_001146702.1:c.4047-176G>A
NM_004187.3:c.4637G>A
NP_004178.2:p.Arg1546Gln
3/11422 0.00022 5 non_synonymous Benign
Displaying 900 through 950 of 1,030 variants