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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 135186831 135186831 C > T ECHS1 NM_004092.3:c.7G>A
NP_004083.3:p.Ala3Thr
6/9594 0.00031 3 non_synonymous Uncertain Significance
View 11 375711 375711 C > T B4GALNT4 NM_178537.4:c.923C>T
NP_848632.2:p.Pro308Leu
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 654011 654011 C > T DEAF1 NM_021008.2:c.1544G>A
NP_066288.2:p.Cys515Tyr
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 11 686935 686935 T > C DEAF1 NM_021008.2:c.727A>G
NP_066288.2:p.Met243Val
74/9594 0.00386 3 non_synonymous Uncertain Significance
View 11 824794 824794 G > C PNPLA2 NM_020376.3:c.1447G>C
NP_065109.1:p.Gly483Arg
10/9594 0.00052 3 Uncertain Significance
View 11 1780857 1780857 C > A CTSD NM_001909.4:c.241G>T
NP_001900.1:p.Gly81Trp
1/11422 4.0e-05 3 non_synonymous Uncertain Significance
View 11 2610045 2610045 C > T KCNQ1 KCNQ1 NM_000218.2:c.1354C>T
NR_040711.2:n.1247C>T
NP_000209.2:p.Arg452Trp
2/9594 0.0001 3 Uncertain Significance
View 11 3846253 3846253 C > T PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 NM_014489.3:c.712C>T
NR_027016.2:n.480C>T
NM_001256240.1:c.529C>T
NR_045923.1:n.550C>T
NR_045925.1:n.460C>T
NR_045927.1:n.629C>T
NR_045926.1:n.472C>T
NR_045929.1:n.596C>T
NM_001145438.2:c.688C>T
NM_001256238.1:c.602C>T
NM_001256239.1:c.517C>T
NM_001256235.1:c.583C>T
NM_001256236.1:c.883C>T
NM_001256237.1:c.779C>T
NR_027018.2:n.677C>T
NR_027017.2:n.1012C>T
NP_055304.1:p.Arg238Cys
NP_001243169.1:p.Arg177Cys
NP_001138910.1:p.Arg230Cys
NP_001243167.1:p.Ser201Leu
NP_001243168.1:p.Arg173Cys
NP_001243164.1:p.Arg195Cys
NP_001243165.1:p.Arg295Cys
NP_001243166.1:p.Ser260Leu
10/9594 0.00052 3 non_synonymous Uncertain Significance
View 11 4112541 4112541 C > T STIM1 STIM1 STIM1 NM_003156.3:c.1571C>T
NM_001277962.1:c.1608C>T
NM_001277961.1:c.1889C>T
NP_003147.2:p.Ser524Phe
NP_001264891.1:p.Leu536=
NP_001264890.1:p.Ser630Phe
54/11422 0.00236 3 non_synonymous Uncertain Significance
View 11 6415259 6415259 G > A SMPD1 SMPD1 NM_000543.4:c.1474G>A
NM_001007593.2:c.1471G>A
NP_000534.3:p.Gly492Ser
NP_001007594.2:p.Gly491Ser
19/11422 0.00083 1 Uncertain Significance
View 11 6415539 6415539 C > T SMPD1 SMPD1 NM_000543.4:c.1598C>T
NM_001007593.2:c.1595C>T
NP_000534.3:p.Pro533Leu
NP_001007594.2:p.Pro532Leu
1/11422 4.0e-05 3 Uncertain Significance
View 11 6640618 6640618 G > T TPP1 NM_000391.3:c.14C>A
NP_000382.3:p.Ala5Asp
20/11422 0.00092 3 non_synonymous Uncertain Significance
View 11 6645388 6645388 T > C DCHS1 ENST00000299441.3:c.7519A>G
ENSP00000299441.3:p.Thr2507Ala
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 11 6651470 6651470 G > A DCHS1 ENST00000299441.3:c.4555C>T
ENSP00000299441.3:p.Pro1519Ser
31/9594 0.00162 3 non_synonymous Uncertain Significance
View 11 6661299 6661299 C > T DCHS1 ENST00000299441.3:c.1546G>A
ENSP00000299441.3:p.Ala516Thr
11/9594 0.00057 3 non_synonymous Uncertain Significance
View 11 6661742 6661742 C > T DCHS1 ENST00000299441.3:c.1103G>A
ENSP00000299441.3:p.Ser368Asn
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 17415289 17415289 C > A ABCC8 NM_000352.3:c.4563G>T
NP_000343.2:p.Lys1521Asn
14/11765 0.00059 3 Uncertain Significance
View 11 17418874 17418874 G > C ABCC8 NM_000352.3:c.3868-14C>G
2/11383 9.0e-05 3 polypyrimidine_tract Uncertain Significance
View 11 17519789 17519789 C > T USH1C USH1C NM_153676.3:c.2410G>A
NM_005709.3:c.1510G>A
NP_710142.1:p.Ala804Thr
NP_005700.2:p.Ala504Thr
4/11422 0.00018 3 Uncertain Significance
View 11 17580151 17580151 C > T OTOG NM_001277269.1:c.1099C>T
NP_001264198.1:p.Pro367Ser
1/9585 5.0e-05 3 non_synonymous Uncertain Significance
View 11 17627538 17627538 C > T OTOG NM_001277269.1:c.4048C>T
NP_001264198.1:p.Arg1350Trp
8/9585 0.00042 3 non_synonymous Uncertain Significance
View 11 17632921 17632921 C > T OTOG NM_001277269.1:c.6110C>T
NP_001264198.1:p.Ala2037Val
33/9585 0.00172 3 non_synonymous Uncertain Significance
View 11 17667402 17667402 C > T OTOG NM_001277269.1:c.8689C>T
NP_001264198.1:p.Arg2897Cys
2/9585 0.0001 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
2/9594 0.00016 3 non_synonymous Uncertain Significance
View 11 20136277 20136277 C > - NAV2 NAV2 NAV2 NAV2 NAV2 NM_001111019.2:c.4293del
ENST00000360655.4:c.6909del
ENST00000396085.1:c.7110del
ENST00000349880.4:c.7101del
ENST00000396087.3:c.7278del
NP_001104489.1:p.Met1432CysfsTer21
ENSP00000353871.4:p.Met2304CysfsTer21
ENSP00000379394.1:p.Met2371CysfsTer21
ENSP00000309577.6:p.Met2368CysfsTer21
ENSP00000379396.3:p.Met2427CysfsTer21
1/9594 5.0e-05 2 frameshift 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
52/9594 0.00271 3 Uncertain Significance
View 11 22646972 22646972 G > C FANCF NM_022725.3:c.385C>G
NP_073562.1:p.Leu129Val
9/9594 0.00047 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
5/9783 0.00026 2 premature_stop 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
13/9595 0.00073 3 non_synonymous Uncertain Significance
View 11 35641317 35641330 TGCACCGCGGACAG > - FJX1 NM_014344.3:c.1133_1146del
NP_055159.2:p.Leu378ArgfsTer46
1/9555 5.0e-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
1/9594 5.0e-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
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 11 44331594 44331594 C > A ALX4 NM_021926.3:c.19G>T
NP_068745.2:p.Val7Phe
2/9594 0.0001 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
14/11422 0.00061 3 Uncertain Significance
View 11 47364705 47364705 G > T MYBPC3 NM_000256.3:c.1227-9C>A
1/9594 5.0e-05 3 Uncertain Significance
View 11 47603733 47603733 G > C NDUFS3 NM_004551.2:c.475G>C
NP_004542.1:p.Val159Leu
76/11422 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
2/9594 0.0001 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
4/10293 0.00019 3 non_synonymous Uncertain Significance
View 11 65487792 65487792 T > A RNASEH2C NM_032193.3:c.269A>T
NP_115569.2:p.Lys90Met
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 11 65487793 65487793 T > C RNASEH2C NM_032193.3:c.268A>G
NP_115569.2:p.Lys90Glu
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 11 66113531 66113531 G > A B4GAT1 NM_006876.2:c.1237C>T
NP_006867.1:p.Arg413Ter
1/9594 5.0e-05 3 premature_stop Uncertain Significance
View 11 66113701 66113701 A > G B4GAT1 NM_006876.2:c.1067T>C
NP_006867.1:p.Leu356Pro
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 11 66282033 66282033 C > G BBS1 NM_024649.4:c.316C>G
NP_078925.3:p.Leu106Val
7/9594 0.00036 3 non_synonymous Uncertain Significance
View 11 66283077 66283077 T > C BBS1 NM_024649.4:c.479+20T>C
2/9555 0.0001 3 five_prime_intronic Uncertain Significance
View 11 66287166 66287166 G > A BBS1 NM_024649.4:c.670G>A
NP_078925.3:p.Glu224Lys
2/9594 0.0001 3 Uncertain Significance
View 11 66293661 66293661 G > A BBS1 NM_024649.4:c.1178G>A
NP_078925.3:p.Arg393Gln
3/9594 0.00016 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
2/11422 9.0e-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
24/11422 0.00105 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
5/11422 0.00022 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
12/11422 0.00053 3 five_prime_flank Uncertain Significance
Displaying 150 through 200 of 1,609 variants