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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 17627538 | 17627538 | C > T | OTOG |
NM_001277269.1:c.4048C>T |
NP_001264198.1:p.Arg1350Trp |
6/8676 | 0.00035 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17632921 | 17632921 | C > T | OTOG |
NM_001277269.1:c.6110C>T |
NP_001264198.1:p.Ala2037Val |
32/8676 | 0.00184 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17667402 | 17667402 | C > T | OTOG |
NM_001277269.1:c.8689C>T |
NP_001264198.1:p.Arg2897Cys |
2/8676 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 18309531 | 18309531 | C > T | HPS5 HPS5 HPS5 |
NM_007216.3:c.2128G>A NM_181507.1:c.2470G>A NM_181508.1:c.2128G>A |
NP_009147.3:p.Glu710Lys NP_852608.1:p.Glu824Lys NP_852609.1:p.Glu710Lys |
2/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 22301267 | 22301267 | A > C | ANO5 ANO5 |
NM_213599.2:c.2698A>C NM_001142649.1:c.2695A>C |
NP_998764.1:p.Met900Leu NP_001136121.1:p.Met899Leu |
48/8685 | 0.00276 | 3 | Uncertain Significance | |
| View | 11 | 22646972 | 22646972 | G > C | FANCF |
NM_022725.3:c.385C>G |
NP_073562.1:p.Leu129Val |
8/8685 | 0.00046 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 35327683 | 35327683 | G > T | SLC1A2 SLC1A2 SLC1A2 |
NM_001195728.2:c.641C>A NM_001252652.1:c.641C>A NM_004171.3:c.668C>A |
NP_001182657.1:p.Pro214Gln NP_001239581.1:p.Pro214Gln NP_004162.2:p.Pro223Gln |
13/8686 | 0.00081 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 35641317 | 35641330 | TGCACCGCGGACAG > - | FJX1 |
NM_014344.3:c.1133_1146del |
NP_055159.2:p.Leu378ArgfsTer46 |
1/8646 | 6.0e-05 | 2 | frameshift | Uncertain Significance |
| View | 11 | 44265835 | 44265835 | T > G | EXT2 EXT2 EXT2 |
NM_000401.3:c.2254T>G NM_001178083.1:c.2185T>G NM_207122.1:c.2155T>G |
NP_000392.3:p.Ter752GlyextTer8 NP_001171554.1:p.Ter729GlyextTer8 NP_997005.1:p.Ter719GlyextTer8 |
1/8685 | 6.0e-05 | 3 | disruption_of_stop | Uncertain Significance |
| View | 11 | 44286664 | 44286664 | C > T | ALX4 |
NM_021926.3:c.976G>A |
NP_068745.2:p.Asp326Asn |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 44331594 | 44331594 | C > A | ALX4 |
NM_021926.3:c.19G>T |
NP_068745.2:p.Val7Phe |
2/8685 | 0.00012 | 1 | Uncertain Significance | |
| View | 11 | 45827853 | 45827855 | CTT > - | SLC35C1 SLC35C1 SLC35C1 |
NM_001145265.1:c.464_466del NM_001145266.1:c.464_466del NM_018389.4:c.503_505del |
NP_001138737.1:p.Phe155del NP_001138738.1:p.Phe155del NP_060859.4:p.Phe168del |
13/10521 | 0.00062 | 3 | Uncertain Significance | |
| View | 11 | 47603733 | 47603733 | G > C | NDUFS3 |
NM_004551.2:c.475G>C |
NP_004542.1:p.Val159Leu |
73/10521 | 0.00352 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 57428411 | 57428411 | C > T | CLP1 CLP1 |
NM_006831.2:c.781C>T NM_001142597.1:c.589C>T |
NP_006822.1:p.Arg261Ter NP_001136069.1:p.Arg197Ter |
2/8685 | 0.00012 | 2 | premature_stop | Uncertain Significance |
| View | 11 | 64514214 | 64514214 | G > A | PYGM PYGM |
NM_005609.2:c.2446C>T NM_001164716.1:c.2182C>T |
NP_005600.1:p.Arg816Cys NP_001158188.1:p.Arg728Cys |
4/9384 | 0.00021 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 65487792 | 65487792 | T > A | RNASEH2C |
NM_032193.3:c.269A>T |
NP_115569.2:p.Lys90Met |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 65487793 | 65487793 | T > C | RNASEH2C |
NM_032193.3:c.268A>G |
NP_115569.2:p.Lys90Glu |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66113531 | 66113531 | G > A | B4GAT1 |
NM_006876.2:c.1237C>T |
NP_006867.1:p.Arg413Ter |
1/8685 | 6.0e-05 | 3 | premature_stop | Uncertain Significance |
| View | 11 | 66113701 | 66113701 | A > G | B4GAT1 |
NM_006876.2:c.1067T>C |
NP_006867.1:p.Leu356Pro |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66282033 | 66282033 | C > G | BBS1 |
NM_024649.4:c.316C>G |
NP_078925.3:p.Leu106Val |
7/8685 | 0.0004 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66283077 | 66283077 | T > C | BBS1 |
NM_024649.4:c.479+20T>C |
2/8646 | 0.00012 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 66287166 | 66287166 | G > A | BBS1 |
NM_024649.4:c.670G>A |
NP_078925.3:p.Glu224Lys |
2/8685 | 0.00012 | 3 | Uncertain Significance | |
| View | 11 | 66293661 | 66293661 | G > A | BBS1 |
NM_024649.4:c.1178G>A |
NP_078925.3:p.Arg393Gln |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66616478 | 66616478 | C > A | PC PC PC |
NM_022172.2:c.3429G>T NM_000920.3:c.3429G>T NM_001040716.1:c.3429G>T |
NP_071504.2:p.Met1143Ile NP_000911.2:p.Met1143Ile NP_001035806.1:p.Met1143Ile |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66617122 | 66617122 | C > T | PC PC PC |
NM_022172.2:c.3107G>A NM_000920.3:c.3107G>A NM_001040716.1:c.3107G>A |
NP_071504.2:p.Arg1036His NP_000911.2:p.Arg1036His NP_001035806.1:p.Arg1036His |
24/10521 | 0.00114 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66631259 | 66631259 | C > T | PC PC PC |
NM_022172.2:c.1354G>A NM_000920.3:c.1354G>A NM_001040716.1:c.1354G>A |
NP_071504.2:p.Val452Ile NP_000911.2:p.Val452Ile NP_001035806.1:p.Val452Ile |
5/10521 | 0.00024 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66633650 | 66633653 | CCGC > - | PC PC PC |
NM_022172.2:c.1185+5_1185+8del NM_000920.3:c.1185+5_1185+8del NM_001040716.1:c.1185+5_1185+8del |
9/10521 | 0.00043 | 3 | five_prime_flank | Uncertain Significance | |
| View | 11 | 67763325 | 67763325 | G > C | UNC93B1 |
ENST00000227471.2:c.1117C>G |
ENSP00000227471.2:p.Arg373Gly |
13/10521 | 0.00062 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 67800683 | 67800683 | G > A | NDUFS8 |
NM_002496.3:c.305G>A |
NP_002487.1:p.Arg102His |
4/10521 | 0.00019 | 3 | Uncertain Significance | |
| View | 11 | 67803807 | 67803807 | G > A | NDUFS8 |
NM_002496.3:c.460G>A |
NP_002487.1:p.Gly154Ser |
2/10521 | 0.0001 | 3 | Uncertain Significance | |
| View | 11 | 67814983 | 67814983 | G > A | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1249G>A ENST00000532635.1:c.601G>A |
ENSP00000265686.3:p.Ala417Thr ENSP00000434407.1:p.Ala201Thr |
94/10521 | 0.00447 | 3 | Uncertain Significance | |
| View | 11 | 68566781 | 68566781 | T > C | CPT1A CPT1A |
ENST00000265641.5:c.598A>G ENST00000376618.2:c.598A>G |
ENSP00000265641.4:p.Lys200Glu ENSP00000365803.2:p.Lys200Glu |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68566822 | 68566822 | T > C | CPT1A CPT1A |
ENST00000265641.5:c.557A>G ENST00000376618.2:c.557A>G |
ENSP00000265641.4:p.Tyr186Cys ENSP00000365803.2:p.Tyr186Cys |
3/10521 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68675796 | 68675796 | G > A | IGHMBP2 |
NM_002180.2:c.440G>A |
NP_002171.2:p.Arg147Gln |
4/10521 | 0.00019 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68678898 | 68678898 | T > G | IGHMBP2 |
NM_002180.2:c.548-10T>G |
23/10521 | 0.00109 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 11 | 68703821 | 68703821 | A > G | IGHMBP2 |
NM_002180.2:c.1873A>G |
NP_002171.2:p.Thr625Ala |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68704308 | 68704308 | C > T | IGHMBP2 |
NM_002180.2:c.2360C>T |
NP_002171.2:p.Pro787Leu |
15/10521 | 0.00071 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 71146501 | 71146501 | G > A | DHCR7 DHCR7 |
NM_001163817.1:c.1348C>T NM_001360.2:c.1348C>T |
NP_001157289.1:p.Arg450Cys NP_001351.2:p.Arg450Cys |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 71150037 | 71150037 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.719A>G NM_001360.2:c.719A>G |
NP_001157289.1:p.Asn240Ser NP_001351.2:p.Asn240Ser |
6/10521 | 0.00033 | 3 | Uncertain Significance | |
| View | 11 | 71906793 | 71906793 | T > C | FOLR1 FOLR1 FOLR1 FOLR1 |
NM_016724.2:c.493+2T>C NM_016725.2:c.493+2T>C NM_016729.2:c.493+2T>C NM_000802.3:c.493+2T>C |
54/10521 | 0.00261 | 1 | Uncertain Significance | ||
| View | 11 | 76868046 | 76868046 | G > A | MYO7A MYO7A MYO7A |
NM_000260.3:c.731G>A NM_001127179.2:c.731G>A NM_001127180.1:c.731G>A |
NP_000251.3:p.Arg244His NP_001120651.2:p.Arg244His NP_001120652.1:p.Arg244His |
5/10521 | 0.00024 | 1 | Uncertain Significance | |
| View | 11 | 76901123 | 76901123 | G > A | MYO7A MYO7A |
NM_000260.3:c.3689G>A NM_001127180.1:c.3689G>A |
NP_000251.3:p.Arg1230His NP_001120652.1:p.Arg1230His |
7/10521 | 0.00033 | 3 | Uncertain Significance | |
| View | 11 | 76903237 | 76903237 | A > T | MYO7A MYO7A |
NM_000260.3:c.4066A>T NM_001127180.1:c.4066A>T |
NP_000251.3:p.Ser1356Cys NP_001120652.1:p.Ser1356Cys |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 76922381 | 76922381 | G > A | MYO7A MYO7A |
NM_000260.3:c.6236G>A NM_001127180.1:c.6122G>A |
NP_000251.3:p.Arg2079Gln NP_001120652.1:p.Arg2041Gln |
9/10521 | 0.00043 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78277185 | 78277185 | A > T | NARS2 NARS2 |
NM_024678.5:c.506T>A NM_001243251.1:c.-176T>A |
NP_078954.4:p.Phe169Tyr |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78285487 | 78285487 | G > A | NARS2 NARS2 |
NM_024678.5:c.47C>T NM_001243251.1:c.-541+387C>T |
NP_078954.4:p.Ser16Phe |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 103153798 | 103153798 | C > T | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.10895C>T NM_001377.2:c.10874C>T |
NP_001073932.1:p.Ala3632Val NP_001368.2:p.Ala3625Val |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 105795309 | 105795309 | C > T | GRIA4 GRIA4 GRIA4 |
ENST00000393127.2:c.1661C>T NR_046356.1:n.1975C>T ENST00000282499.5:c.1661C>T |
ENSP00000376835.2:p.Ala554Val ENSP00000282499.5:p.Ala554Val |
1/8646 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 108018032 | 108018039 | ATGCCTTG > - | ACAT1 |
NM_000019.3:c.1200_1207del |
NP_000010.1:p.His400GlnfsTer57 |
2/10521 | 0.0001 | 2 | frameshift | Uncertain Significance |
| View | 11 | 108165789 | 108165789 | G > A | ATM |
ENST00000278616.4:c.4909+3G>A |
2/10521 | 0.0001 | 3 | Uncertain Significance |