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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 151372055 151372055 G > A PSMB4 NM_002796.2:c.-9G>A
57/11951 0.00238 3 curation Uncertain Significance
View 1 151378742 151378742 G > T POGZ POGZ POGZ POGZ POGZ NM_207171.2:c.2610C>A
NM_001194937.1:c.2742C>A
NM_001194938.1:c.2583C>A
NM_015100.3:c.2769C>A
NM_145796.3:c.2484C>A
NP_997054.1:p.His870Gln
NP_001181866.1:p.His914Gln
NP_001181867.1:p.His861Gln
NP_055915.2:p.His923Gln
NP_665739.3:p.His828Gln
2/13144 8.0e-05 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
2/13144 8.0e-05 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
3/13144 0.00011 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
177/14969 0.00591 3 curation Uncertain Significance
View 1 155450311 155450311 T > C ASH1L NM_018489.2:c.2350A>G
NP_060959.2:p.Lys784Glu
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 156106049 156106049 G > A LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.866G>A
NM_005572.3:c.1202G>A
NR_047544.1:n.1843G>A
NR_047545.1:n.1090G>A
NM_170707.3:c.1202G>A
NM_170708.3:c.1202G>A
NP_001244303.1:p.Arg289His
NP_005563.1:p.Arg401His
NP_733821.1:p.Arg401His
NP_733822.1:p.Arg401His
4/13843 0.00014 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
2/13843 7.0e-05 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
2/13843 7.0e-05 1 Uncertain Significance
View 1 160099139 160099139 C > G ATP1A2 NM_000702.3:c.1410C>G
NP_000693.1:p.Asp470Glu
4/13144 0.00015 3 non_synonymous 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
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 161276518 161276518 G > A MPZ NM_000530.6:c.428C>T
NP_000521.2:p.Thr143Met
4/14969 0.00013 3 Uncertain Significance
View 1 161928377 161928377 T > G ATF6 NM_007348.3:c.1946T>G
NP_031374.2:p.Phe649Cys
2/13144 8.0e-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
1/13144 4.0e-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
1/11983 4.0e-05 3 five_prime_intronic Uncertain Significance
View 1 165738064 165738064 G > C TMCO1 TMCO1 TMCO1 TMCO1 NM_019026.4:c.78C>G
NM_001256165.1:c.-312C>G
NM_001256164.1:c.78C>G
NR_045818.1:n.96C>G
NP_061899.2:p.Ser26Arg
NP_001243093.1:p.Ser26Arg
40/13144 0.00152 3 non_synonymous 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
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 183534901 183534901 G > A NCF2 NCF2 NCF2 NCF2 NM_001190794.1:c.803C>T
NM_000433.3:c.938C>T
NM_001127651.2:c.938C>T
NM_001190789.1:c.695C>T
NP_001177723.1:p.Pro268Leu
NP_000424.2:p.Pro313Leu
NP_001121123.1:p.Pro313Leu
NP_001177718.1:p.Pro232Leu
12/13144 0.00046 3 non_synonymous Uncertain Significance
View 1 184020890 184020890 A > G TSEN15 TSEN15 TSEN15 NM_001127394.2:c.1A>G
NM_052965.2:c.1A>G
NR_023349.1:n.80A>G
NP_001120866.1:p.Met1?
NP_443197.1:p.Met1?
3/13144 0.00011 3 loss_of_initiation Uncertain Significance
View 1 196197475 196197475 G > T KCNT2 ENST00000294725.9:c.3297-10C>A
3/11944 0.00013 3 polypyrimidine_tract 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
3/13144 0.00011 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
4/13144 0.00015 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
1/13144 4.0e-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
22/13144 0.00084 3 curation Uncertain Significance
View 1 200635484 200635484 A > C DDX59 NM_001031725.4:c.385T>G
NP_001026895.2:p.Leu129Val
2/13144 8.0e-05 3 non_synonymous 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
13/13144 0.00049 3 curation Uncertain Significance
View 1 201330411 201330411 T > C TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 NM_001276345.1:c.806A>G
NM_000364.3:c.797A>G
NM_001001431.2:c.767A>G
NM_001001432.2:c.758A>G
NM_001001430.2:c.776A>G
NM_001276347.1:c.776A>G
NM_001276346.1:c.677A>G
NP_001263274.1:p.Tyr269Cys
NP_000355.2:p.Tyr266Cys
NP_001001431.1:p.Tyr256Cys
NP_001001432.1:p.Tyr253Cys
NP_001001430.1:p.Tyr259Cys
NP_001263276.1:p.Tyr259Cys
NP_001263275.1:p.Tyr226Cys
1/13144 4.0e-05 3 non_synonymous 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
5/13144 0.00019 3 curation Uncertain Significance
View 1 202718183 202718183 T > C KDM5B NM_006618.3:c.1906A>G
NP_006609.3:p.Met636Val
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 205028229 205028229 C > T CNTN2 NM_005076.3:c.505C>T
NP_005067.1:p.Leu169Phe
83/13144 0.00316 3 non_synonymous Uncertain Significance
View 1 205033819 205033819 C > T CNTN2 NM_005076.3:c.1460C>T
NP_005067.1:p.Thr487Ile
21/13144 0.0008 3 non_synonymous Uncertain Significance
View 1 205041651 205041651 A > - CNTN2 NM_005076.3:c.2773del
NP_005067.1:p.Ser925AlafsTer33
6/13144 0.00023 3 frameshift GUS 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
13/13144 0.00049 3 curation Uncertain Significance
View 1 214820265 214820265 A > G CENPF NM_016343.3:c.7352A>G
NP_057427.3:p.Asn2451Ser
4/13105 0.00015 3 non_synonymous Uncertain Significance
View 1 216246591 216246591 T > C USH2A ENST00000307340.3:c.5624A>G
ENSP00000305941.3:p.Asn1875Ser
13/14969 0.00043 3 curation Uncertain Significance
View 1 220279317 220279317 T > C IARS2 NM_018060.3:c.1151T>C
NP_060530.3:p.Met384Thr
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 1 220355619 220355619 G > A RAB3GAP2 NM_012414.3:c.2290C>T
NP_036546.2:p.Leu764Phe
40/14969 0.00134 3 non_synonymous Uncertain Significance
View 1 227170644 227170644 A > G COQ8A NM_020247.4:c.989A>G
NP_064632.2:p.Tyr330Cys
9/14969 0.0003 3 non_synonymous Uncertain Significance
View 1 228346015 228346015 G > T GJC2 NM_020435.3:c.556G>T
NP_065168.2:p.Gly186Cys
24/14969 0.0008 3 curation Uncertain Significance
View 1 228346406 228346406 C > T GJC2 NM_020435.3:c.947C>T
NP_065168.2:p.Pro316Leu
27/14969 0.001 3 curation Uncertain Significance
View 1 228346429 228346429 G > A GJC2 NM_020435.3:c.970G>A
NP_065168.2:p.Ala324Thr
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View 1 228346693 228346693 C > T GJC2 NM_020435.3:c.1234C>T
NP_065168.2:p.His412Tyr
34/14969 0.00114 3 curation Uncertain Significance
View 1 228363053 228363053 G > C IBA57 NM_001010867.2:c.910G>C
NP_001010867.1:p.Gly304Arg
2/13144 8.0e-05 3 non_synonymous 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
9/14969 0.0003 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
12/13772 0.00044 3 five_prime_intronic Uncertain Significance
View 1 237048482 237048482 A > T MTR NM_000254.2:c.2738A>T
NP_000245.2:p.Tyr913Phe
2/13144 8.0e-05 3 curation Uncertain Significance
View 1 237619960 237619960 C > G RYR2 NM_001035.2:c.1537C>G
NP_001026.2:p.His513Asp
4/13333 0.00015 1 Uncertain Significance
View 1 237655172 237655172 G > T RYR2 NM_001035.2:c.1775G>T
NP_001026.2:p.Gly592Val
1/13333 4.0e-05 3 non_synonymous Uncertain Significance
View 1 237791239 237791239 G > A RYR2 NM_001035.2:c.6299G>A
NP_001026.2:p.Arg2100Gln
4/13333 0.00015 3 non_synonymous Uncertain Significance
View 1 237791319 237791319 C > T RYR2 NM_001035.2:c.6379C>T
NP_001026.2:p.Arg2127Trp
1/13333 4.0e-05 3 Uncertain Significance
Displaying 100 through 150 of 2,237 variants