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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 53675923 53675923 C > T TRNAN-GUU CPT2 NM_000098.2:c.577C>T
NP_000089.1:p.Arg193Cys
6/11422 0.00026 3 Uncertain Significance
View 1 53676371 53676371 T > C TRNAN-GUU CPT2 NM_000098.2:c.1025T>C
NP_000089.1:p.Met342Thr
19/11422 0.00083 3 Uncertain Significance
View 1 62941720 62941720 T > C DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.5604+18A>G
NM_001271999.1:c.5691+18A>G
NM_033407.3:c.5631+18A>G
NM_001272001.1:c.5598+18A>G
3/9555 0.00016 3 five_prime_intronic Uncertain Significance
View 1 62962089 62962089 A > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.4724T>A
NM_001271999.1:c.4817T>A
NM_033407.3:c.4751T>A
NM_001272001.1:c.4724T>A
NP_001258929.1:p.Phe1575Tyr
NP_001258928.1:p.Phe1606Tyr
NP_212132.2:p.Phe1584Tyr
NP_001258930.1:p.Phe1575Tyr
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 63018557 63018557 C > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.2612G>A
NM_001271999.1:c.2612G>A
NM_033407.3:c.2612G>A
NM_001272001.1:c.2612G>A
NP_001258929.1:p.Gly871Glu
NP_001258928.1:p.Gly871Glu
NP_212132.2:p.Gly871Glu
NP_001258930.1:p.Gly871Glu
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 63024812 63024812 C > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.2279G>A
NM_001271999.1:c.2279G>A
NM_033407.3:c.2279G>A
NM_001272001.1:c.2279G>A
NP_001258929.1:p.Arg760Gln
NP_001258928.1:p.Arg760Gln
NP_212132.2:p.Arg760Gln
NP_001258930.1:p.Arg760Gln
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 91403435 91403435 G > A TRNAN-GUU ZNF644 ZNF644 ZNF644 NM_032186.4:c.23-19724C>T
NM_016620.3:c.23-19724C>T
NM_201269.2:c.3295C>T
NP_958357.1:p.Arg1099Cys
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 100340312 100340312 G > A AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.1028G>A
NM_000643.2:c.1028G>A
NM_000644.2:c.1028G>A
NM_000645.2:c.977G>A
NM_000646.2:c.980G>A
NM_000028.2:c.1028G>A
NP_000633.2:p.Arg343Gln
NP_000634.2:p.Arg343Gln
NP_000635.2:p.Arg343Gln
NP_000636.2:p.Arg326Gln
NP_000637.2:p.Arg327Gln
NP_000019.2:p.Arg343Gln
11/11422 0.00048 3 non_synonymous Uncertain Significance
View 1 100573386 100573386 C > A TRNAN-GUU SASS6 NM_194292.1:c.1036G>T
NP_919268.1:p.Asp346Tyr
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 103449602 103449602 A > T COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2592+92T>A
NM_001854.3:c.2556+92T>A
NM_001190709.1:c.2439+92T>A
NM_080630.3:c.2208+92T>A
39/9555 0.00209 3 Uncertain Significance
View 1 109777998 109777998 T > A TRNAN-GUU SARS NM_006513.3:c.914T>A
NP_006504.2:p.Val305Glu
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 1 110170697 110170697 C > A AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 NM_139156.3:c.1000-8C>A
NM_001257360.1:c.1243-8C>A
NM_203404.1:c.886-8C>A
NM_001257361.1:c.889-8C>A
NM_004037.7:c.1243-8C>A
3/9594 0.00016 3 polypyrimidine_tract Uncertain Significance
View 1 110171120 110171120 A > G AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 NM_139156.3:c.1326+3A>G
NM_001257360.1:c.1569+3A>G
NM_203404.1:c.1212+3A>G
NM_001257361.1:c.1215+3A>G
NM_004037.7:c.1569+3A>G
61/9594 0.00323 3 five_prime_flank Uncertain Significance
View 1 115218640 115218640 A > T TRNAN-GUU AMPD1 AMPD1 NM_000036.2:c.1488-16T>A
NM_001172626.1:c.1476-16T>A
1/9555 5.0e-05 3 three_prime_flank Uncertain Significance
View 1 115221116 115221116 C > A TRNAN-GUU AMPD1 AMPD1 NM_000036.2:c.1029G>T
NM_001172626.1:c.1017G>T
NP_000027.2:p.Met343Ile
NP_001166097.1:p.Met339Ile
67/9594 0.00354 3 Uncertain Significance
View 1 115251248 115251248 C > T TRNAN-GUU NRAS NM_002524.4:c.478G>A
NP_002515.1:p.Val160Ile
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 115252272 115252272 C > T TRNAN-GUU NRAS NM_002524.4:c.368G>A
NP_002515.1:p.Arg123Lys
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 116206325 116206325 C > T TRNAN-GUU VANGL1 VANGL1 VANGL1 NM_001172412.1:c.248C>T
NM_001172411.1:c.242C>T
NM_138959.2:c.248C>T
NP_001165883.1:p.Ser83Leu
NP_001165882.1:p.Ser81Leu
NP_620409.1:p.Ser83Leu
3/9594 0.00016 3 Uncertain Significance
View 1 120468261 120468261 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4178G>A
NP_077719.2:p.Arg1393His
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 150484179 150484179 C > T ECM1 ECM1 ECM1 NM_001202858.1:c.1036C>T
NM_004425.3:c.955C>T
NM_022664.2:c.708+505C>T
NP_001189787.1:p.Arg346Cys
NP_004416.2:p.Arg319Cys
2/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 154558776 154558776 C > G ADAR ADAR ADAR ADAR ENST00000529168.1:c.2990G>C
NM_001025107.2:c.2198G>C
ENST00000368474.4:c.3083G>C
NM_001193495.1:c.2198G>C
ENSP00000431794.1:p.Gly997Ala
NP_001020278.1:p.Gly733Ala
ENSP00000357459.4:p.Gly1028Ala
NP_001180424.1:p.Gly733Ala
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 154573889 154573889 T > C ADAR ADAR ADAR ADAR ENST00000529168.1:c.1214A>G
NM_001025107.2:c.344A>G
ENST00000368474.4:c.1229A>G
NM_001193495.1:c.344A>G
ENSP00000431794.1:p.Glu405Gly
NP_001020278.1:p.Glu115Gly
ENSP00000357459.4:p.Glu410Gly
NP_001180424.1:p.Glu115Gly
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 155261649 155261649 C > T PKLR PKLR NM_181871.3:c.1423G>A
NM_000298.5:c.1516G>A
NP_870986.1:p.Val475Ile
NP_000289.1:p.Val506Ile
136/11422 0.00595 3 Uncertain Significance
View 1 155450311 155450311 T > C ASH1L NM_018489.2:c.2350A>G
NP_060959.2:p.Lys784Glu
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 156108453 156108453 A > C LMNA LMNA LMNA NM_001257374.1:c.1537A>C
NM_170707.3:c.1873A>C
NM_170708.3:c.1783A>C
NP_001244303.1:p.Ser513Arg
NP_733821.1:p.Ser625Arg
NP_733822.1:p.Ser595Arg
2/10293 0.0001 3 non_synonymous Uncertain Significance
View 1 156108454 156108454 G > C LMNA LMNA LMNA NM_001257374.1:c.1538G>C
NM_170707.3:c.1874G>C
NM_170708.3:c.1784G>C
NP_001244303.1:p.Ser513Thr
NP_733821.1:p.Ser625Thr
NP_733822.1:p.Ser595Thr
2/10293 0.0001 1 Uncertain Significance
View 1 161179934 161179934 C > A NDUFS2 NDUFS2 NM_001166159.1:c.736C>A
NM_004550.4:c.736C>A
NP_001159631.1:p.Gln246Lys
NP_004541.1:p.Gln246Lys
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 162724611 162724611 G > A DDR2 DDR2 NM_001014796.1:c.383G>A
NM_006182.2:c.383G>A
NP_001014796.1:p.Arg128His
NP_006173.2:p.Arg128His
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 165737912 165737912 C > T TMCO1 TMCO1 TMCO1 TMCO1 NM_019026.4:c.223+7G>A
NM_001256165.1:c.-160G>A
NM_001256164.1:c.146+84G>A
NR_045818.1:n.164+84G>A
1/9594 5.0e-05 3 five_prime_intronic Uncertain Significance
View 1 182354983 182354983 C > G GLUL GLUL GLUL NM_001033056.2:c.515G>C
NM_001033044.2:c.515G>C
NM_002065.5:c.515G>C
NP_001028228.1:p.Gly172Ala
NP_001028216.1:p.Gly172Ala
NP_002056.2:p.Gly172Ala
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 197071299 197071299 G > C ASPM ASPM NM_001206846.1:c.4066-6005C>G
NM_018136.4:c.7082C>G
NP_060606.3:p.Ser2361Cys
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 197071867 197071867 C > T ASPM ASPM NM_001206846.1:c.4066-6573G>A
NM_018136.4:c.6514G>A
NP_060606.3:p.Val2172Ile
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 1 197098435 197098435 G > A ASPM ASPM NM_001206846.1:c.2642C>T
NM_018136.4:c.2642C>T
NP_001193775.1:p.Ala881Val
NP_060606.3:p.Ala881Val
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 197298095 197298095 T > C CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 ENST00000367400.3:c.614T>C
ENST00000538660.1:c.614T>C
ENST00000535699.1:c.407T>C
NR_047563.1:n.823T>C
ENST00000367399.2:c.614T>C
NR_047564.1:n.823T>C
ENSP00000356370.3:p.Ile205Thr
ENSP00000438091.1:p.Ile205Thr
ENSP00000438786.1:p.Ile136Thr
ENSP00000356369.2:p.Ile205Thr
18/9594 0.00094 3 Uncertain Significance
View 1 201328373 201328373 G > A TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 NM_001276345.1:c.862C>T
NM_000364.3:c.853C>T
NM_001001431.2:c.823C>T
NM_001001432.2:c.814C>T
NM_001001430.2:c.832C>T
NM_001276347.1:c.832C>T
NM_001276346.1:c.733C>T
NP_001263274.1:p.Arg288Cys
NP_000355.2:p.Arg285Cys
NP_001001431.1:p.Arg275Cys
NP_001001432.1:p.Arg272Cys
NP_001001430.1:p.Arg278Cys
NP_001263276.1:p.Arg278Cys
NP_001263275.1:p.Arg245Cys
12/9594 0.00063 3 Uncertain Significance
View 1 201334772 201334772 G > A TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 NM_001276345.1:c.260C>T
NM_000364.3:c.260C>T
NM_001001431.2:c.230C>T
NM_001001432.2:c.215C>T
NM_001001430.2:c.230C>T
NM_001276347.1:c.230C>T
NM_001276346.1:c.257C>T
NP_001263274.1:p.Pro87Leu
NP_000355.2:p.Pro87Leu
NP_001001431.1:p.Pro77Leu
NP_001001432.1:p.Pro72Leu
NP_001001430.1:p.Pro77Leu
NP_001263276.1:p.Pro77Leu
NP_001263275.1:p.Pro86Leu
5/9594 0.00026 3 Uncertain Significance
View 1 205028229 205028229 C > T CNTN2 NM_005076.3:c.505C>T
NP_005067.1:p.Leu169Phe
67/9594 0.00349 3 non_synonymous Uncertain Significance
View 1 205033819 205033819 C > T CNTN2 NM_005076.3:c.1460C>T
NP_005067.1:p.Thr487Ile
16/9594 0.00083 3 non_synonymous Uncertain Significance
View 1 211654499 211654499 T > C RD3 RD3 NM_001164688.1:c.259A>G
NM_183059.2:c.259A>G
NP_001158160.1:p.Lys87Glu
NP_898882.1:p.Lys87Glu
13/9594 0.00068 3 Uncertain Significance
View 1 214820265 214820265 A > G CENPF NM_016343.3:c.7352A>G
NP_057427.3:p.Asn2451Ser
4/9555 0.00021 3 non_synonymous Uncertain Significance
View 1 216246591 216246591 T > C USH2A ENST00000307340.3:c.5624A>G
ENSP00000305941.3:p.Asn1875Ser
9/11422 0.00039 3 Uncertain Significance
View 1 220279317 220279317 T > C IARS2 NM_018060.3:c.1151T>C
NP_060530.3:p.Met384Thr
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 220355619 220355619 G > A RAB3GAP2 NM_012414.3:c.2290C>T
NP_036546.2:p.Leu764Phe
26/11422 0.00114 3 non_synonymous Uncertain Significance
View 1 227170644 227170644 A > G COQ8A NM_020247.4:c.989A>G
NP_064632.2:p.Tyr330Cys
7/11422 0.00031 3 non_synonymous Uncertain Significance
View 1 228346015 228346015 G > T GJC2 NM_020435.3:c.556G>T
NP_065168.2:p.Gly186Cys
23/11422 0.00101 3 Uncertain Significance
View 1 228346406 228346406 C > T GJC2 NM_020435.3:c.947C>T
NP_065168.2:p.Pro316Leu
22/11422 0.00105 3 Uncertain Significance
View 1 228346429 228346429 G > A GJC2 NM_020435.3:c.970G>A
NP_065168.2:p.Ala324Thr
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 1 228346693 228346693 C > T GJC2 NM_020435.3:c.1234C>T
NP_065168.2:p.His412Tyr
27/11422 0.00118 3 Uncertain Significance
View 1 235577815 235577815 A > G TBCE TBCE NM_001079515.1:c.253A>G
NM_003193.3:c.253A>G
NP_001072983.1:p.Ile85Val
NP_003184.1:p.Ile85Val
5/11422 0.00022 3 non_synonymous Uncertain Significance
View 1 235597606 235597606 C > T TBCE TBCE NM_001079515.1:c.737+11C>T
NM_003193.3:c.737+11C>T
6/11383 0.00026 3 five_prime_intronic Uncertain Significance
Displaying 50 through 100 of 1,510 variants