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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
Displaying 150 through 200 of 1,329 variants