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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 97444321 97444321 C > T TCTN3 NM_001143973.1:c.652-935G>A
NM_015631.5:c.1030G>A
NP_056446.4:p.Gly344Arg
62/5119 0.00625 4 non_synonymous Likely Benign
View 10 97453433 97453433 G > A TCTN3 NM_001143973.1:c.224C>T
NM_015631.5:c.224C>T
NP_001137445.1:p.Ala75Val
NP_056446.4:p.Ala75Val
62/5119 0.00625 4 non_synonymous Likely Benign
View 10 97983635 97983635 C > A BLNK NM_001258442.1:c.349+3543G>T
NM_013314.3:c.472G>T
NR_047681.1:n.484+3531G>T
NM_001258441.1:c.472G>T
NM_001258440.1:c.472G>T
NR_047680.1:n.467+3543G>T
NM_001114094.1:c.472G>T
NR_047683.1:n.590G>T
NR_047682.1:n.479+3531G>T
NP_037446.1:p.Ala158Ser
NP_001245370.1:p.Ala158Ser
NP_001245369.1:p.Ala158Ser
NP_001107566.1:p.Ala158Ser
74/5120 0.00723 4 non_synonymous Likely Benign
View 10 100481427 100481427 C > T HPSE2 NM_001166244.1:c.769G>A
NM_001166245.1:c.607G>A
NM_021828.4:c.943G>A
NM_001166246.1:c.943G>A
NP_001159716.1:p.Ala257Thr
NP_001159717.1:p.Ala203Thr
NP_068600.4:p.Ala315Thr
NP_001159718.1:p.Ala315Thr
28/5119 0.00283 4 non_synonymous Likely Benign
View 10 101476226 101476226 G > T COX15 NM_004376.5:c.988-8C>A
NM_078470.4:c.988-8C>A
5/6913 0.00036 4 polypyrimidine_tract Likely Benign
View 10 104359297 104359297 G > T SUFU NM_016169.3:c.1018G>T
NM_001178133.1:c.1018G>T
NP_057253.2:p.Ala340Ser
NP_001171604.1:p.Ala340Ser
78/5119 0.00772 4 non_synonymous Likely Benign
View 10 111872643 111872643 T > C ADD3 NM_001121.2:c.304T>C
NM_016824.3:c.304T>C
NM_019903.3:c.304T>C
NP_001112.2:p.Ser102Pro
NP_058432.1:p.Ser102Pro
NP_063968.1:p.Ser102Pro
37/5101 0.00372 3 non_synonymous Likely Benign
View 10 112343933 112343933 T > G SMC3 NM_005445.3:c.1092-8T>G
15/5119 0.00147 4 polypyrimidine_tract Likely Benign
View 10 112360894 112360894 T > A SMC3 NM_005445.3:c.2644+6T>A
7/5119 0.00068 3 five_prime_flank Likely Benign
View 10 121429462 121429462 A > T BAG3 NM_004281.3:c.280A>T
NP_004272.2:p.Ile94Phe
16/5119 0.00156 4 Likely Benign
View 10 121436204 121436204 C > T BAG3 NM_004281.3:c.1138C>T
NP_004272.2:p.Pro380Ser
5/5119 0.00049 4 Likely Benign
View 10 123325158 123325158 G > A FGFR2 NM_001144918.1:c.110-14185C>T
NM_001144913.1:c.170C>T
NM_001144915.1:c.110-1065C>T
NR_073009.1:n.757-14185C>T
NM_022970.3:c.170C>T
NM_001144916.1:c.110-14185C>T
NM_001144919.1:c.110-1065C>T
NM_000141.4:c.170C>T
NM_001144917.1:c.170C>T
NM_023029.2:c.110-1065C>T
NM_001144914.1:c.170C>T
NP_001138385.1:p.Ser57Leu
NP_075259.4:p.Ser57Leu
NP_000132.3:p.Ser57Leu
NP_001138389.1:p.Ser57Leu
NP_001138386.1:p.Ser57Leu
34/5119 0.00332 4 non_synonymous Likely Benign
View 10 123353298 123353298 C > T FGFR2 NM_000141.4:c.34G>A
NM_001144914.1:c.34G>A
NM_001144916.1:c.34G>A
NM_001144919.1:c.34G>A
NR_073009.1:n.681G>A
NM_022970.3:c.34G>A
NM_001144915.1:c.34G>A
NM_001144918.1:c.34G>A
NM_001144913.1:c.34G>A
NM_023029.2:c.34G>A
NM_001144917.1:c.34G>A
NP_000132.3:p.Val12Met
NP_001138386.1:p.Val12Met
NP_001138388.1:p.Val12Met
NP_001138391.1:p.Val12Met
NP_075259.4:p.Val12Met
NP_001138387.1:p.Val12Met
NP_001138390.1:p.Val12Met
NP_001138385.1:p.Val12Met
NP_075418.1:p.Val12Met
NP_001138389.1:p.Val12Met
3/5119 0.00029 4 non_synonymous Likely Benign
View 10 131665406 131665406 G > C EBF3 NM_001005463.2:c.1011C>G
NM_001005463.2:c.1011C>G(p.%3D)
15/5101 0.00147 4 five_prime_exonic Likely Benign
View 11 764414 764414 A > G TALDO1 NM_006755.1:c.962A>G
NP_006746.1:p.Lys321Arg
65/5119 0.00654 4 non_synonymous Likely Benign
View 11 1775352 1775352 C > T CTSD NM_001909.4:c.844G>A
NP_001900.1:p.Gly282Arg
78/6913 0.00564 4 non_synonymous Likely Benign
View 11 2592569 2592569 G > A KCNQ1 NM_000218.2:c.619G>A
NR_040711.2:n.512G>A
NP_000209.2:p.Val207Met
5/5119 0.00049 4 Likely Benign
View 11 2906803 2906803 C > T CDKN1C NM_000076.2:c.-84G>A
NM_001122630.1:c.-11+61G>A
NM_001122631.1:c.-11+61G>A
70/5101 0.00706 4 Likely Benign
View 11 6415245 6415245 C > T SMPD1 NM_001007593.2:c.1457C>T
NM_000543.4:c.1460C>T
NP_001007594.2:p.Ala486Val
NP_000534.3:p.Ala487Val
68/6913 0.00492 4 Likely Benign
View 11 6415704 6415704 C > T SMPD1 NM_001007593.2:c.1760C>T
NM_000543.4:c.1763C>T
NP_001007594.2:p.Thr587Met
NP_000534.3:p.Thr588Met
41/6913 0.00318 4 non_synonymous Likely Benign
View 11 6644149 6644149 C > T DCHS1 NM_003737.2:c.8758G>A
NP_003728.1:p.Val2920Met
13/5119 0.00127 4 non_synonymous Likely Benign
View 11 6661600 6661600 G > T DCHS1 NM_003737.2:c.1245C>A
NP_003728.1:p.Ser415Arg
79/5119 0.00772 4 non_synonymous Likely Benign
View 11 6662466 6662466 C > T DCHS1 NM_003737.2:c.379G>A
NP_003728.1:p.Val127Ile
86/5121 0.00859 4 non_synonymous Likely Benign
View 11 6662787 6662787 G > A DCHS1 NM_003737.2:c.58C>T
NP_003728.1:p.His20Tyr
2/5119 0.0002 4 non_synonymous Likely Benign
View 11 9878045 9878045 C > T SBF2 NM_030962.3:c.2323G>A
NP_112224.1:p.Gly775Ser
28/5119 0.00273 4 non_synonymous Likely Benign
View 11 10508903 10508903 G > T AMPD3 NM_000480.2:c.958G>T
NM_001172431.1:c.454G>T
NM_001025389.1:c.931G>T
NM_001025390.1:c.952G>T
NM_001172430.1:c.931G>T
NP_000471.1:p.Val320Leu
NP_001165902.1:p.Val152Leu
NP_001020560.1:p.Val311Leu
NP_001020561.1:p.Val318Leu
NP_001165901.1:p.Val311Leu
79/5119 0.00772 4 Likely Benign
View 11 17598128 17598128 G > C OTOG NM_001277269.1:c.2548G>C
NP_001264198.1:p.Gly850Arg
23/5110 0.00225 4 non_synonymous Likely Benign
View 11 17758138 17758138 A > T KCNC1 NM_001112741.1:c.570+19A>T
NM_004976.4:c.570+19A>T
28/5101 0.00274 4 five_prime_intronic Likely Benign
View 11 20622808 20622808 C > G SLC6A5 NM_004211.3:c.137C>G
NP_004202.2:p.Pro46Arg
60/5119 0.00586 4 non_synonymous Likely Benign
View 11 22296233 22296233 T > G ANO5 NM_213599.2:c.2354T>G
NM_001142649.1:c.2351T>G
NP_998764.1:p.Leu785Arg
NP_001136121.1:p.Leu784Arg
11/5119 0.00107 4 non_synonymous Likely Benign
View 11 26587350 26587350 G > C MUC15 ANO3 NM_001135091.1:c.137C>G
NM_031418.2:c.1447+6024G>C
NM_145650.3:c.56C>G
NM_001135092.1:c.137C>G
NP_001128563.1:p.Ser46Trp
NP_663625.2:p.Ser19Trp
NP_001128564.1:p.Ser46Trp
26/5101 0.00274 4 non_synonymous Likely Benign
View 11 34999682 34999682 G > C PDHX NM_003477.2:c.976G>C
NM_001135024.1:c.931G>C
NM_001166158.1:c.343-6435G>C
NP_003468.2:p.Val326Leu
NP_001128496.1:p.Val311Leu
115/6913 0.00832 4 non_synonymous Likely Benign
View 11 44148443 44148443 T > C EXT2 NM_001178083.1:c.1017T>C
NM_207122.1:c.1017T>C
NM_000401.3:c.1116T>C
NM_001178083.1:c.1017T>C(p.%3D)
NM_207122.1:c.1017T>C(p.%3D)
NM_000401.3:c.1116T>C(p.%3D)
30/5119 0.00293 4 Likely Benign
View 11 45931647 45931647 T > G PEX16 ENST00000241041.3:c.1034A>C
ENSP00000241041.3:p.His345Pro
44/5119 0.0043 4 non_synonymous Likely Benign
View 11 47371449 47371449 C > T MYBPC3 NM_000256.3:c.530G>A
NP_000247.2:p.Arg177His
13/5119 0.00127 4 Likely Benign
View 11 47433920 47433920 C > G SLC39A13 ENST00000362021.4:c.439C>G
ENST00000354884.4:c.439C>G
ENSP00000354689.4:p.Gln147Glu
ENSP00000346956.4:p.Gln147Glu
28/5119 0.00273 4 non_synonymous Likely Benign
View 11 58919451 58919451 T > A FAM111A NM_001142519.1:c.310T>A
NM_001142520.1:c.310T>A
NM_022074.3:c.310T>A
NM_198847.2:c.310T>A
NM_001142521.1:c.310T>A
NP_001135991.1:p.Leu104Ile
NP_001135992.1:p.Leu104Ile
NP_071357.2:p.Leu104Ile
NP_942144.1:p.Leu104Ile
NP_001135993.1:p.Leu104Ile
30/5119 0.00293 4 non_synonymous Likely Benign
View 11 61160686 61160686 C > T TMEM216 NM_001173991.2:c.35-17C>T
NM_016499.5:c.-149-17C>T
NM_001173990.2:c.35-17C>T
70/5101 0.00696 4 three_prime_flank Likely Benign
View 11 61165269 61165269 C > A TMEM216 NM_016499.5:c.70C>A
NM_001173991.2:c.253C>A
NM_001173990.2:c.253C>A
NM_016499.5:c.70C>A(p.%3D)
NM_001173991.2:c.253C>A(p.%3D)
NM_001173990.2:c.253C>A(p.%3D)
4/5119 0.00039 4 Likely Benign
View 11 62439530 62439530 T > G UQCC3 NM_001085372.2:c.226T>G
NP_001078841.1:p.Trp76Gly
8/5101 0.00078 3 non_synonymous Likely Benign
View 11 66332089 66332089 G > A CTSF NM_003793.3:c.1261C>T
NP_003784.2:p.Arg421Trp
20/5119 0.00205 4 non_synonymous Likely Benign
View 11 67379579 67379579 C > - NDUFV1 NM_001166102.1:c.1136-12del
NM_007103.3:c.1163-12del
37/6895 0.00268 4 polypyrimidine_tract Likely Benign
View 11 67810477 67810477 C > T TCIRG1 ENST00000265686.3:c.482C>T
ENST00000532635.1:c.-506C>T
ENSP00000265686.3:p.Pro161Leu
28/6913 0.00203 4 non_synonymous Likely Benign
View 11 71155265 71155265 C > T DHCR7 NM_001360.2:c.99-4G>A
NM_001163817.1:c.99-4G>A
146/6913 0.01063 4 Likely Benign
View 11 72084037 72084037 C > T CLPB NM_001258392.1:c.646+7288G>A
NM_001258394.1:c.533G>A
NM_001258393.1:c.559+7288G>A
NM_030813.4:c.668G>A
NP_001245323.1:p.Ser178Asn
NP_110440.1:p.Ser223Asn
40/5119 0.004 4 non_synonymous Likely Benign
View 11 73796878 73796878 T > C C2CD3 NM_015531.4:c.3695A>G
NP_056346.3:p.Asn1232Ser
86/5119 0.0086 4 non_synonymous Likely Benign
View 11 76914151 76914151 C > A MYO7A NM_001127180.1:c.5101C>A
NM_000260.3:c.5215C>A
NM_001127180.1:c.5101C>A(p.%3D)
NM_000260.3:c.5215C>A(p.%3D)
24/6913 0.00174 4 Likely Benign
View 11 76914260 76914260 T > C MYO7A NM_001127180.1:c.5210T>C
NM_000260.3:c.5324T>C
NP_001120652.1:p.Ile1737Thr
NP_000251.3:p.Ile1775Thr
5/6913 0.00036 4 non_synonymous Likely Benign
View 11 76922359 76922359 G > A MYO7A NM_001127180.1:c.6100G>A
NM_000260.3:c.6214G>A
NP_001120652.1:p.Val2034Ile
NP_000251.3:p.Val2072Ile
6/6913 0.00043 4 non_synonymous Likely Benign
View 11 99932010 99932010 A > T CNTN5 NM_175566.2:c.825A>T
NM_001243270.1:c.1047A>T
NM_014361.3:c.1047A>T
NM_001243271.1:c.1047A>T
NP_780775.1:p.Lys275Asn
NP_001230199.1:p.Lys349Asn
NP_055176.1:p.Lys349Asn
NP_001230200.1:p.Lys349Asn
17/5101 0.00176 4 non_synonymous Likely Benign
Displaying 150 through 200 of 1,587 variants