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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 20648254 20648254 G > T SLC6A5 NM_004211.3:c.1261G>T
NP_004202.2:p.Val421Leu
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 11 20660048 20660048 C > T SLC6A5 NM_004211.3:c.1913C>T
NP_004202.2:p.Ser638Phe
3/13144 0.00011 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
70/13144 0.00266 3 curation Uncertain Significance
View 11 22646972 22646972 G > C FANCF NM_022725.3:c.385C>G
NP_073562.1:p.Leu129Val
9/13144 0.00034 3 non_synonymous Uncertain Significance
View 11 27679427 27679427 G > A BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF-AS BDNF-AS BDNF-AS BDNF BDNF BDNF-AS BDNF BDNF-AS ENST00000532997.1:c.685C>T
ENST00000395980.2:c.685C>T
ENST00000395981.3:c.685C>T
ENST00000525528.1:c.685C>T
ENST00000525950.1:c.685C>T
ENST00000418212.1:c.685C>T
ENST00000438929.1:c.931C>T
ENST00000533246.1:c.685C>T
ENST00000356660.4:c.685C>T
ENST00000314915.6:c.709C>T
ENST00000439476.2:c.685C>T
ENST00000420794.1:c.685C>T
ENST00000530861.1:c.685C>T
NR_002832.2:n.375-361G>A
NR_033315.1:n.306-361G>A
NR_033314.1:n.375-361G>A
ENST00000395978.3:c.685C>T
ENST00000395983.3:c.685C>T
NR_033312.1:n.306-361G>A
ENST00000395986.2:c.730C>T
NR_033313.1:n.306-361G>A
ENSP00000435805.1:p.Arg229Ter
ENSP00000379304.2:p.Arg229Ter
ENSP00000379305.3:p.Arg229Ter
ENSP00000437138.1:p.Arg229Ter
ENSP00000432035.1:p.Arg229Ter
ENSP00000400502.1:p.Arg229Ter
ENSP00000414303.1:p.Arg311Ter
ENSP00000432376.1:p.Arg229Ter
ENSP00000349084.4:p.Arg229Ter
ENSP00000320002.6:p.Arg237Ter
ENSP00000389345.2:p.Arg229Ter
ENSP00000389564.1:p.Arg229Ter
ENSP00000435564.1:p.Arg229Ter
ENSP00000379302.3:p.Arg229Ter
ENSP00000379307.3:p.Arg229Ter
ENSP00000379309.2:p.Arg244Ter
7/13333 0.00026 2 premature_stop Uncertain Significance
View 11 34982046 34982046 C > T PDHX PDHX PDHX NM_001166158.1:c.342+12893C>T
NM_003477.2:c.622C>T
NM_001135024.1:c.577C>T
NP_003468.2:p.Arg208Trp
NP_001128496.1:p.Arg193Trp
8/14969 0.00027 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
15/13145 0.00061 3 non_synonymous Uncertain Significance
View 11 35641317 35641330 TGCACCGCGGACAG > - FJX1 NM_014344.3:c.1133_1146del
NP_055159.2:p.Leu378ArgfsTer46
1/13105 4.0e-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
1/13144 4.0e-05 3 curation Uncertain Significance
View 11 44286664 44286664 C > T ALX4 NM_021926.3:c.976G>A
NP_068745.2:p.Asp326Asn
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 11 44331470 44331470 A > G ALX4 NM_021926.3:c.143T>C
NP_068745.2:p.Leu48Pro
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 11 44331594 44331594 C > A ALX4 NM_021926.3:c.19G>T
NP_068745.2:p.Val7Phe
3/13144 0.00011 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
23/14969 0.00077 3 curation Uncertain Significance
View 11 45935380 45935380 G > A PEX16 ENST00000241041.3:c.877C>T
ENSP00000241041.3:p.Arg293Cys
5/13144 0.00019 3 non_synonymous Uncertain Significance
View 11 47356625 47356625 G > A MYBPC3 NM_000256.3:c.2873C>T
NP_000247.2:p.Thr958Ile
3/13144 0.00011 3 Uncertain Significance
View 11 47364705 47364705 G > T MYBPC3 NM_000256.3:c.1227-9C>A
1/11983 4.0e-05 3 curation Uncertain Significance
View 11 47600895 47600895 G > T NDUFS3 NM_004551.2:c.133+9G>T
5/13812 0.00018 3 five_prime_intronic Uncertain Significance
View 11 47603733 47603733 G > C NDUFS3 NM_004551.2:c.475G>C
NP_004542.1:p.Val159Leu
100/14969 0.00337 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
2/13144 8.0e-05 2 premature_stop Uncertain Significance
View 11 61165305 61165305 T > A TMEM216 TMEM216 TMEM216 NM_001173990.2:c.289T>A
NM_001173991.2:c.289T>A
NM_016499.5:c.106T>A
NP_001167461.1:p.Phe97Ile
NP_001167462.1:p.Phe97Ile
NP_057583.2:p.Phe36Ile
9/13144 0.00034 3 non_synonymous Uncertain Significance
View 11 62384523 62384523 C > T B3GAT3 NM_012200.3:c.554G>A
NP_036332.2:p.Gly185Glu
23/13144 0.00087 3 non_synonymous Uncertain Significance
View 11 64066968 64066968 C > T KCNK4 NM_033310.2:c.952C>T
NP_201567.1:p.Arg318Ter
4/13105 0.00015 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
9/13843 0.00033 3 non_synonymous Uncertain Significance
View 11 65108524 65108524 C > T DPF2 NM_006268.4:c.281C>T
NP_006259.1:p.Ser94Phe
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View 11 65487792 65487792 T > A RNASEH2C NM_032193.3:c.269A>T
NP_115569.2:p.Lys90Met
5/14969 0.00017 3 non_synonymous Uncertain Significance
View 11 65487793 65487793 T > C RNASEH2C NM_032193.3:c.268A>G
NP_115569.2:p.Lys90Glu
6/14969 0.0002 3 non_synonymous Uncertain Significance
View 11 66113531 66113531 G > A B4GAT1 NM_006876.2:c.1237C>T
NP_006867.1:p.Arg413Ter
1/13144 4.0e-05 3 curation Uncertain Significance
View 11 66113701 66113701 A > G B4GAT1 NM_006876.2:c.1067T>C
NP_006867.1:p.Leu356Pro
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 11 66282033 66282033 C > G BBS1 NM_024649.4:c.316C>G
NP_078925.3:p.Leu106Val
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 11 66283077 66283077 T > C BBS1 NM_024649.4:c.479+20T>C
2/11944 8.0e-05 3 five_prime_intronic Uncertain Significance
View 11 66287166 66287166 G > A BBS1 NM_024649.4:c.670G>A
NP_078925.3:p.Glu224Lys
2/13144 8.0e-05 3 curation Uncertain Significance
View 11 66293661 66293661 G > A BBS1 NM_024649.4:c.1178G>A
NP_078925.3:p.Arg393Gln
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 11 66294120 66294120 G > A BBS1 NM_024649.4:c.1181G>A
NP_078925.3:p.Gly394Asp
9/13144 0.00034 3 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
2/14969 7.0e-05 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
31/14969 0.00104 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
7/14969 0.00023 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
14/13810 0.00051 3 five_prime_flank Uncertain Significance
View 11 67379392 67379392 C > T NDUFV1 NDUFV1 NM_007103.3:c.1105C>T
NM_001166102.1:c.1078C>T
NP_009034.2:p.Arg369Cys
NP_001159574.1:p.Arg360Cys
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View 11 67763325 67763325 G > C UNC93B1 ENST00000227471.2:c.1117C>G
ENSP00000227471.2:p.Arg373Gly
12/14969 0.0004 3 non_synonymous Uncertain Significance
View 11 67770606 67770606 G > A UNC93B1 ENST00000227471.2:c.278C>T
ENSP00000227471.2:p.Thr93Ile
4/14969 0.00013 3 non_synonymous Uncertain Significance
View 11 67799622 67799622 C > T NDUFS8 NM_002496.3:c.4C>T
NP_002487.1:p.Arg2Cys
85/14969 0.00284 3 Uncertain Significance
View 11 67800683 67800683 G > A NDUFS8 NM_002496.3:c.305G>A
NP_002487.1:p.Arg102His
4/14969 0.00013 3 curation Uncertain Significance
View 11 67803807 67803807 G > A NDUFS8 NM_002496.3:c.460G>A
NP_002487.1:p.Gly154Ser
2/14969 7.0e-05 3 curation 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
123/14969 0.00411 3 curation 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
1/14969 3.0e-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
5/14969 0.00017 3 non_synonymous Uncertain Significance
View 11 68675796 68675796 G > A IGHMBP2 NM_002180.2:c.440G>A
NP_002171.2:p.Arg147Gln
6/14969 0.0002 3 non_synonymous Uncertain Significance
View 11 68678898 68678898 T > G IGHMBP2 NM_002180.2:c.548-10T>G
31/13813 0.00112 3 polypyrimidine_tract Uncertain Significance
View 11 68703821 68703821 A > G IGHMBP2 NM_002180.2:c.1873A>G
NP_002171.2:p.Thr625Ala
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View 11 68704308 68704308 C > T IGHMBP2 NM_002180.2:c.2360C>T
NP_002171.2:p.Pro787Leu
23/14969 0.00077 3 non_synonymous Uncertain Significance
Displaying 250 through 300 of 2,237 variants