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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 654011 654011 C > T DEAF1 NM_021008.2:c.1544G>A
NP_066288.2:p.Cys515Tyr
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 11 1780857 1780857 C > A CTSD NM_001909.4:c.241G>T
NP_001900.1:p.Gly81Trp
1/8004 6.0e-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
2/6213 0.00016 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 NR_045925.1:n.460C>T
NM_001256237.1:c.779C>T
NM_014489.3:c.712C>T
NR_045929.1:n.596C>T
NR_045927.1:n.629C>T
NM_001145438.2:c.688C>T
NM_001256236.1:c.883C>T
NR_027017.2:n.1012C>T
NM_001256235.1:c.583C>T
NM_001256239.1:c.517C>T
NR_027016.2:n.480C>T
NR_045923.1:n.550C>T
NR_045926.1:n.472C>T
NM_001256240.1:c.529C>T
NR_027018.2:n.677C>T
NM_001256238.1:c.602C>T
NP_001243166.1:p.Ser260Leu
NP_055304.1:p.Arg238Cys
NP_001138910.1:p.Arg230Cys
NP_001243165.1:p.Arg295Cys
NP_001243164.1:p.Arg195Cys
NP_001243168.1:p.Arg173Cys
NP_001243169.1:p.Arg177Cys
NP_001243167.1:p.Ser201Leu
7/6213 0.00056 3 non_synonymous Uncertain Significance
View 11 4112541 4112541 C > T STIM1 STIM1 STIM1 NM_003156.3:c.1571C>T
NM_001277961.1:c.1889C>T
NM_001277962.1:c.1608C>T
NP_003147.2:p.Ser524Phe
NP_001264890.1:p.Ser630Phe
NP_001264891.1:p.Leu536=
36/8004 0.00225 3 non_synonymous Uncertain Significance
View 11 6415259 6415259 G > A SMPD1 SMPD1 NM_001007593.2:c.1471G>A
NM_000543.4:c.1474G>A
NP_001007594.2:p.Gly491Ser
NP_000534.3:p.Gly492Ser
14/8004 0.00087 1 Uncertain Significance
View 11 6415539 6415539 C > T SMPD1 SMPD1 NM_001007593.2:c.1595C>T
NM_000543.4:c.1598C>T
NP_001007594.2:p.Pro532Leu
NP_000534.3:p.Pro533Leu
1/8004 6.0e-05 3 Uncertain Significance
View 11 6645388 6645388 T > C DCHS1 ENST00000299441.3:c.7519A>G
ENSP00000299441.3:p.Thr2507Ala
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 11 6651470 6651470 G > A DCHS1 ENST00000299441.3:c.4555C>T
ENSP00000299441.3:p.Pro1519Ser
26/6213 0.00209 3 non_synonymous Uncertain Significance
View 11 6661299 6661299 C > T DCHS1 ENST00000299441.3:c.1546G>A
ENSP00000299441.3:p.Ala516Thr
7/6213 0.00056 3 non_synonymous Uncertain Significance
View 11 6661742 6661742 C > T DCHS1 ENST00000299441.3:c.1103G>A
ENSP00000299441.3:p.Ser368Asn
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 11 17415289 17415289 C > A ABCC8 NM_000352.3:c.4563G>T
NP_000343.2:p.Lys1521Asn
8/8223 0.00049 3 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
2/8004 0.00012 3 Uncertain Significance
View 11 17580151 17580151 C > T OTOG NM_001277269.1:c.1099C>T
NP_001264198.1:p.Pro367Ser
1/6204 8.0e-05 3 non_synonymous Uncertain Significance
View 11 17627538 17627538 C > T OTOG NM_001277269.1:c.4048C>T
NP_001264198.1:p.Arg1350Trp
4/6204 0.00032 3 non_synonymous Uncertain Significance
View 11 17632921 17632921 C > T OTOG NM_001277269.1:c.6110C>T
NP_001264198.1:p.Ala2037Val
25/6204 0.00201 3 non_synonymous Uncertain Significance
View 11 17667402 17667402 C > T OTOG NM_001277269.1:c.8689C>T
NP_001264198.1:p.Arg2897Cys
2/6204 0.00016 3 non_synonymous Uncertain Significance
View 11 18309531 18309531 C > T HPS5 HPS5 HPS5 NM_181508.1:c.2128G>A
NM_181507.1:c.2470G>A
NM_007216.3:c.2128G>A
NP_852609.1:p.Glu710Lys
NP_852608.1:p.Glu824Lys
NP_009147.3:p.Glu710Lys
2/6213 0.00024 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
31/6213 0.00249 3 Uncertain Significance
View 11 22646972 22646972 G > C FANCF NM_022725.3:c.385C>G
NP_073562.1:p.Leu129Val
5/6213 0.0004 3 non_synonymous Uncertain Significance
View 11 35327683 35327683 G > T SLC1A2 SLC1A2 SLC1A2 NM_001252652.1:c.641C>A
NM_001195728.2:c.641C>A
NM_004171.3:c.668C>A
NP_001239581.1:p.Pro214Gln
NP_001182657.1:p.Pro214Gln
NP_004162.2:p.Pro223Gln
5/6213 0.0004 3 non_synonymous Uncertain Significance
View 11 44265835 44265835 T > G EXT2 EXT2 EXT2 NM_001178083.1:c.2185T>G
NM_207122.1:c.2155T>G
NM_000401.3:c.2254T>G
NP_001171554.1:p.Ter729GlyextTer8
NP_997005.1:p.Ter719GlyextTer8
NP_000392.3:p.Ter752GlyextTer8
1/6213 8.0e-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
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 11 45827853 45827855 CTT > - SLC35C1 SLC35C1 SLC35C1 NM_001145265.1:c.464_466del
NM_018389.4:c.503_505del
NM_001145266.1:c.464_466del
NP_001138737.1:p.Phe155del
NP_060859.4:p.Phe168del
NP_001138738.1:p.Phe155del
7/8004 0.00044 3 Uncertain Significance
View 11 65487792 65487792 T > A RNASEH2C NM_032193.3:c.269A>T
NP_115569.2:p.Lys90Met
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 11 65487793 65487793 T > C RNASEH2C NM_032193.3:c.268A>G
NP_115569.2:p.Lys90Glu
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 11 66113701 66113701 A > G B4GAT1 NM_006876.2:c.1067T>C
NP_006867.1:p.Leu356Pro
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 11 66282033 66282033 C > G BBS1 NM_024649.4:c.316C>G
NP_078925.3:p.Leu106Val
5/6213 0.0004 3 non_synonymous Uncertain Significance
View 11 66283077 66283077 T > C BBS1 NM_024649.4:c.479+20T>C
2/6174 0.00016 3 five_prime_intronic Uncertain Significance
View 11 66293661 66293661 G > A BBS1 NM_024649.4:c.1178G>A
NP_078925.3:p.Arg393Gln
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 11 66616478 66616478 C > A PC PC PC NM_000920.3:c.3429G>T
NM_022172.2:c.3429G>T
NM_001040716.1:c.3429G>T
NP_000911.2:p.Met1143Ile
NP_071504.2:p.Met1143Ile
NP_001035806.1:p.Met1143Ile
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 11 66617122 66617122 C > T PC PC PC NM_000920.3:c.3107G>A
NM_022172.2:c.3107G>A
NM_001040716.1:c.3107G>A
NP_000911.2:p.Arg1036His
NP_071504.2:p.Arg1036His
NP_001035806.1:p.Arg1036His
20/8004 0.00125 3 non_synonymous Uncertain Significance
View 11 66631259 66631259 C > T PC PC PC NM_000920.3:c.1354G>A
NM_022172.2:c.1354G>A
NM_001040716.1:c.1354G>A
NP_000911.2:p.Val452Ile
NP_071504.2:p.Val452Ile
NP_001035806.1:p.Val452Ile
5/8004 0.00031 3 non_synonymous Uncertain Significance
View 11 66633650 66633653 CCGC > - PC PC PC NM_000920.3:c.1185+5_1185+8del
NM_022172.2:c.1185+5_1185+8del
NM_001040716.1:c.1185+5_1185+8del
8/8004 0.0005 3 five_prime_flank Uncertain Significance
View 11 67763325 67763325 G > C UNC93B1 ENST00000227471.2:c.1117C>G
ENSP00000227471.2:p.Arg373Gly
13/8004 0.00081 3 non_synonymous Uncertain Significance
View 11 67800683 67800683 G > A NDUFS8 NM_002496.3:c.305G>A
NP_002487.1:p.Arg102His
4/8004 0.00025 3 Uncertain Significance
View 11 67803807 67803807 G > A NDUFS8 NM_002496.3:c.460G>A
NP_002487.1:p.Gly154Ser
2/8004 0.00012 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
68/8004 0.00425 3 Uncertain Significance
View 11 68566781 68566781 T > C CPT1A CPT1A ENST00000376618.2:c.598A>G
ENST00000265641.5:c.598A>G
ENSP00000365803.2:p.Lys200Glu
ENSP00000265641.4:p.Lys200Glu
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 11 68566822 68566822 T > C CPT1A CPT1A ENST00000376618.2:c.557A>G
ENST00000265641.5:c.557A>G
ENSP00000365803.2:p.Tyr186Cys
ENSP00000265641.4:p.Tyr186Cys
3/8004 0.00019 3 non_synonymous Uncertain Significance
View 11 68678898 68678898 T > G IGHMBP2 NM_002180.2:c.548-10T>G
19/8004 0.00119 3 polypyrimidine_tract Uncertain Significance
View 11 68703821 68703821 A > G IGHMBP2 NM_002180.2:c.1873A>G
NP_002171.2:p.Thr625Ala
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 11 68704308 68704308 C > T IGHMBP2 NM_002180.2:c.2360C>T
NP_002171.2:p.Pro787Leu
9/8004 0.00056 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
6/8004 0.00044 3 Uncertain Significance
View 11 71906793 71906793 T > C FOLR1 FOLR1 FOLR1 FOLR1 NM_016724.2:c.493+2T>C
NM_000802.3:c.493+2T>C
NM_016725.2:c.493+2T>C
NM_016729.2:c.493+2T>C
44/8004 0.00281 1 Uncertain Significance
View 11 76903237 76903237 A > T MYO7A MYO7A NM_001127180.1:c.4066A>T
NM_000260.3:c.4066A>T
NP_001120652.1:p.Ser1356Cys
NP_000251.3:p.Ser1356Cys
1/8004 6.0e-05 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
1/6213 8.0e-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
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 11 103153798 103153798 C > T DYNC2H1 DYNC2H1 NM_001377.2:c.10874C>T
NM_001080463.1:c.10895C>T
NP_001368.2:p.Ala3625Val
NP_001073932.1:p.Ala3632Val
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 11 108018032 108018039 ATGCCTTG > - ACAT1 NM_000019.3:c.1200_1207del
NP_000010.1:p.His400GlnfsTer57
2/8004 0.00012 2 frameshift Uncertain Significance
Displaying 100 through 150 of 1,072 variants