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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 13 78492540 78492540 C > T EDNRB EDNRB EDNRB ENST00000334286.5:c.169G>A
ENST00000377211.4:c.439G>A
NM_003991.3:c.169G>A
ENSP00000335311.5:p.Gly57Ser
ENSP00000366416.4:p.Gly147Ser
NP_003982.1:p.Gly57Ser
82/6913 0.006 3 Uncertain Significance
View 13 110861756 110861756 C > T COL4A1 NM_001845.4:c.634G>A
NP_001836.2:p.Gly212Ser
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 14 23884437 23884437 T > C MYH7 NM_000257.2:c.5326A>G
NP_000248.2:p.Ser1776Gly
2/5119 0.0002 3 Uncertain Significance
View 14 23886458 23886458 G > A MYH7 NM_000257.2:c.4423C>T
NP_000248.2:p.Arg1475Cys
4/5119 0.00039 3 Uncertain Significance
View 14 23900798 23900798 C > T MYH7 NM_000257.2:c.728G>A
NP_000248.2:p.Arg243His
2/5119 0.0002 3 Uncertain Significance
View 14 29236687 29236687 C > T FOXG1 NM_005249.4:c.202C>T
NP_005240.3:p.Pro68Ser
1/5771 9.0e-05 3 non_synonymous Uncertain Significance
View 14 29236760 29236760 C > T FOXG1 NM_005249.4:c.275C>T
NP_005240.3:p.Ala92Val
1/5771 9.0e-05 3 non_synonymous Uncertain Significance
View 14 29237530 29237530 T > G FOXG1 NM_005249.4:c.1045T>G
NP_005240.3:p.Ser349Ala
2/5771 0.00017 3 non_synonymous Uncertain Significance
View 14 32319298 32319298 T > C NUBPL NUBPL NUBPL NM_001201573.1:c.527-27T>C
NM_025152.2:c.815-27T>C
NM_001201574.1:c.266-27T>C
32/5101 0.00314 3 Uncertain Significance
View 14 50088719 50088719 G > C MGAT2 NM_002408.3:c.733G>C
NP_002399.1:p.Val245Leu
25/6913 0.00181 3 non_synonymous Uncertain Significance
View 14 50585304 50585306 TAA > - SOS2 NM_006939.2:c.3755_3757del
NP_008870.2:p.Ile1252del
1/5119 0.0001 3 in_frame_indel Uncertain Significance
View 14 50597321 50597321 T > C SOS2 NM_006939.2:c.3235A>G
NP_008870.2:p.Thr1079Ala
4/5119 0.00039 3 non_synonymous Uncertain Significance
View 14 51224113 51224113 G > A NIN NIN NIN NIN ENST00000382041.3:c.3635C>T
ENST00000453196.1:c.3635C>T
NM_016350.4:c.2399+2462C>T
ENST00000245441.5:c.3635C>T
ENSP00000371472.3:p.Ala1212Val
ENSP00000412391.1:p.Ala1212Val
ENSP00000245441.5:p.Ala1212Val
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 60976501 60976501 G > A SIX6 NM_007374.2:c.385G>A
NP_031400.2:p.Glu129Lys
82/5119 0.00801 3 non_synonymous Uncertain Significance
View 14 64518393 64518393 G > A SYNE2 SYNE2 NM_182914.2:c.7762G>A
NM_015180.4:c.7762G>A
NP_878918.2:p.Val2588Met
NP_055995.4:p.Val2588Met
6/5119 0.00059 3 non_synonymous Uncertain Significance
View 14 64589059 64589059 G > A SYNE2 SYNE2 NM_182914.2:c.13336G>A
NM_015180.4:c.13336G>A
NP_878918.2:p.Gly4446Ser
NP_055995.4:p.Gly4446Ser
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 74424855 74424855 G > A COQ6 COQ6 NM_182476.2:c.487G>A
NM_182480.2:c.412G>A
NP_872282.1:p.Val163Met
NP_872286.2:p.Val138Met
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 74759024 74759024 C > T ABCD4 ABCD4 NR_003256.2:n.1108G>A
NM_005050.3:c.1084G>A
NP_005041.1:p.Glu362Lys
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 74947404 74947404 C > T NPC2 NM_006432.3:c.441+1G>A
67/6913 0.00492 1 Uncertain Significance
View 14 74951189 74951189 T > G NPC2 NM_006432.3:c.292A>C
NP_006423.1:p.Asn98His
5/6913 0.00036 1 Uncertain Significance
View 14 88414206 88414206 C > T GALC GALC GALC ENST00000393568.4:c.1286G>A
ENST00000393569.2:c.1277G>A
ENST00000261304.2:c.1355G>A
ENSP00000377198.4:p.Gly429Asp
ENSP00000377199.2:p.Gly426Asp
ENSP00000261304.2:p.Gly452Asp
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 14 91749685 91749685 C > G CCDC88C NM_001080414.3:c.4618G>C
NP_001073883.2:p.Gly1540Arg
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 91763720 91763720 G > A CCDC88C NM_001080414.3:c.3895C>T
NP_001073883.2:p.Arg1299Cys
47/5119 0.00459 3 non_synonymous Uncertain Significance
View 14 91806262 91806262 C > T CCDC88C NM_001080414.3:c.590G>A
NP_001073883.2:p.Arg197Gln
7/5119 0.00068 3 non_synonymous Uncertain Significance
View 14 92470233 92470233 T > C TRIP11 NM_004239.3:c.4087A>G
NP_004230.2:p.Ile1363Val
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 14 97322892 97322892 G > T VRK1 NM_003384.2:c.858G>T
NP_003375.1:p.Met286Ile
18/5119 0.00176 3 non_synonymous Uncertain Significance
View 15 23891505 23891525 del > - MAGEL2 NM_019066.4:c.1365_1385del
NP_061939.3:p.Pro456_Pro-325del
17/5119 0.00166 3 in_frame_indel Uncertain Significance
View 15 27017864 27017864 T > G GABRB3 GABRB3 GABRB3 NM_021912.4:c.136A>C
NM_000814.5:c.136A>C
NM_001278631.1:c.-216A>C
NP_068712.1:p.Lys46Gln
NP_000805.1:p.Lys46Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 28443903 28443903 C > T HERC2 NM_004667.5:c.7729G>A
NP_004658.3:p.Val2577Ile
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 28474481 28474481 G > A HERC2 NM_004667.5:c.5132C>T
NP_004658.3:p.Thr1711Ile
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 28499591 28499591 T > C HERC2 NM_004667.5:c.2945A>G
NP_004658.3:p.His982Arg
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 34542534 34542534 A > C SLC12A6 SLC12A6 SLC12A6 SLC12A6 SLC12A6 SLC12A6 NM_001042496.1:c.1587T>G
NM_005135.2:c.1461T>G
NM_001042497.1:c.1569T>G
NM_001042494.1:c.1437T>G
NM_001042495.1:c.1437T>G
NM_133647.1:c.1614T>G
NP_001035961.1:p.Phe529Leu
NP_005126.1:p.Phe487Leu
NP_001035962.1:p.Phe523Leu
NP_001035959.1:p.Phe479Leu
NP_001035960.1:p.Phe479Leu
NP_598408.1:p.Phe538Leu
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 15 34543135 34543135 G > A SLC12A6 SLC12A6 SLC12A6 SLC12A6 SLC12A6 SLC12A6 NM_001042496.1:c.1430C>T
NM_001042497.1:c.1412C>T
NM_005135.2:c.1304C>T
NM_001042494.1:c.1280C>T
NM_001042495.1:c.1280C>T
NM_133647.1:c.1457C>T
NP_001035961.1:p.Thr477Met
NP_001035962.1:p.Thr471Met
NP_005126.1:p.Thr435Met
NP_001035959.1:p.Thr427Met
NP_001035960.1:p.Thr427Met
NP_598408.1:p.Thr486Met
4/6913 0.00029 3 non_synonymous Uncertain Significance
View 15 38641645 38641645 T > C SPRED1 NM_152594.2:c.605T>C
NP_689807.1:p.Leu202Ser
2/5119 0.0002 1 Uncertain Significance
View 15 40913676 40913676 A > G CASC5 CASC5 NM_144508.4:c.1214A>G
NM_170589.4:c.1292A>G
NP_653091.3:p.Asp405Gly
NP_733468.3:p.Asp431Gly
11/5119 0.00107 3 non_synonymous Uncertain Significance
View 15 43299402 43299402 G > A UBR1 NM_174916.2:c.3290C>T
NP_777576.1:p.Thr1097Met
15/6913 0.00108 3 non_synonymous Uncertain Significance
View 15 43678512 43678512 G > A TUBGCP4 NM_014444.2:c.998G>A
NP_055259.2:p.Arg333His
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 44858499 44858499 G > C SPG11 SPG11 NM_001160227.1:c.6420C>G
NM_025137.3:c.6759C>G
NP_001153699.1:p.Asp2140Glu
NP_079413.3:p.Asp2253Glu
10/5119 0.00098 3 non_synonymous Uncertain Significance
View 15 45661601 45661601 G > A GATM NM_001482.2:c.407C>T
NP_001473.1:p.Thr136Met
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 48500263 48500263 G > A SLC12A1 SLC12A1 NM_000338.2:c.347G>A
NM_001184832.1:c.347G>A
NP_000329.2:p.Arg116His
NP_001171761.1:p.Arg116His
65/6913 0.0047 1 Uncertain Significance
View 15 49076311 49076311 T > C CEP152 CEP152 NM_014985.3:c.1180A>G
NM_001194998.1:c.1180A>G
NP_055800.2:p.Ile394Val
NP_001181927.1:p.Ile394Val
43/5119 0.0043 1 Uncertain Significance
View 15 49089694 49089694 C > T CEP152 CEP152 NM_014985.3:c.344G>A
NM_001194998.1:c.344G>A
NP_055800.2:p.Arg115Gln
NP_001181927.1:p.Arg115Gln
35/5119 0.00342 3 non_synonymous Uncertain Significance
View 15 51233687 51233687 C > T AP4E1 AP4E1 NM_001252127.1:c.767C>T
NM_007347.4:c.992C>T
NP_001239056.1:p.Ser256Leu
NP_031373.2:p.Ser331Leu
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 15 52611351 52611351 C > T MYO5A MYO5A ENST00000356338.6:c.4984G>A
ENST00000399231.3:c.5065G>A
ENSP00000348693.6:p.Val1662Ile
ENSP00000382177.3:p.Val1689Ile
37/6913 0.00268 3 non_synonymous Uncertain Significance
View 15 55497811 55497811 C > T RAB27A RAB27A RAB27A RAB27A NM_183235.2:c.560G>A
NM_183234.2:c.560G>A
NM_004580.4:c.560G>A
NM_183236.2:c.560G>A
NP_899058.1:p.Arg187Gln
NP_899057.1:p.Arg187Gln
NP_004571.2:p.Arg187Gln
NP_899059.1:p.Arg187Gln
5/6913 0.00036 3 non_synonymous Uncertain Significance
View 15 64017685 64017685 C > T HERC1 NM_003922.3:c.3374G>A
NP_003913.3:p.Gly1125Asp
28/5119 0.00273 3 non_synonymous Uncertain Significance
View 15 68500732 68500732 C > T CLN6 NM_017882.2:c.682G>A
NP_060352.1:p.Gly228Ser
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 15 73016923 73016923 A > G BBS4 BBS4 BBS4 BBS4 NR_045566.1:n.876A>G
ENST00000268057.4:c.514A>G
NR_045565.1:n.621A>G
ENST00000395205.2:c.538A>G
ENSP00000268057.4:p.Ile172Val
ENSP00000378631.2:p.Ile180Val
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 15 74659692 74659692 C > T CYP11A1 NM_000781.2:c.235G>A
NP_000772.2:p.Val79Ile
58/7003 0.00414 3 non_synonymous Uncertain Significance
View 15 76580196 76580196 T > C ETFA ETFA NM_000126.3:c.442A>G
NM_001127716.1:c.295A>G
NP_000117.1:p.Ile148Val
NP_001121188.1:p.Ile99Val
3/6913 0.00022 3 non_synonymous Uncertain Significance
Displaying 200 through 250 of 896 variants