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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 955596 955596 C > G AGRN NM_198576.3:c.44C>G
NP_940978.2:p.Pro15Arg
5/5119 0.00049 3 non_synonymous Uncertain Significance
View 1 981353 981353 C > T AGRN NM_198576.3:c.2690C>T
NP_940978.2:p.Ala897Val
22/5119 0.00215 3 non_synonymous Uncertain Significance
View 1 1960633 1960633 G > A GABRD NM_000815.4:c.775G>A
NP_000806.2:p.Val259Ile
6/5119 0.00059 3 non_synonymous Uncertain Significance
View 1 2235762 2235762 C > T SKI NM_003036.3:c.1505C>T
NP_003027.1:p.Pro502Leu
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 3301830 3301830 A > G PRDM16 NM_022114.3:c.553A>G
NM_199454.2:c.553A>G
NP_071397.3:p.Met185Val
NP_955533.2:p.Met185Val
5/5119 0.00049 3 non_synonymous Uncertain Significance
View 1 6529605 6529605 A > G PLEKHG5 NM_001265593.1:c.2139T>C
NM_001265592.1:c.2169T>C
NM_001042665.1:c.1932T>C
NM_001042664.1:c.1932T>C
NM_020631.4:c.1932T>C
NM_198681.3:c.2163T>C
NM_001042663.1:c.2100T>C
NM_001265594.1:c.1932T>C
NM_001265593.1:c.2139T>C(p.%3D)
NM_001265592.1:c.2169T>C(p.%3D)
NM_001042665.1:c.1932T>C(p.%3D)
NM_001042664.1:c.1932T>C(p.%3D)
NM_020631.4:c.1932T>C(p.%3D)
NM_198681.3:c.2163T>C(p.%3D)
NM_001042663.1:c.2100T>C(p.%3D)
NM_001265594.1:c.1932T>C(p.%3D)
7/6913 0.00051 3 five_prime_exonic Uncertain Significance
View 1 20964534 20964534 C > T TRNAN-GUU PINK1 NM_032409.2:c.587C>T
NP_115785.1:p.Pro196Leu
7/5119 0.00068 3 Uncertain Significance
View 1 20981934 20981934 C > T TRNAN-GUU DDOST ENST00000415136.2:c.490G>A
ENSP00000399457.2:p.Gly164Arg
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 22181472 22181472 C > T TRNAN-GUU HSPG2 NM_005529.5:c.6002G>A
NP_005520.4:p.Arg2001Gln
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 1 27120874 27120874 A > G TRNAN-GUU PIGV NM_017837.3:c.349A>G
NM_001202554.1:c.349A>G
NP_060307.2:p.Ile117Val
NP_001189483.1:p.Ile117Val
15/5119 0.00147 3 non_synonymous Uncertain Significance
View 1 27930145 27930145 T > C TRNAN-GUU 1/2659 0.00019 4 intronic Uncertain Significance
View 1 38006125 38006125 G > A TRNAN-GUU SNIP1 NM_024700.3:c.559C>T
NP_078976.2:p.Arg187Trp
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 40539750 40539750 T > C TRNAN-GUU PPT1 NM_000310.3:c.904A>G
NM_001142604.1:c.595A>G
NP_000301.1:p.Ile302Val
NP_001136076.1:p.Ile199Val
15/6913 0.00108 3 non_synonymous Uncertain Significance
View 1 40770513 40770513 G > A TRNAN-GUU COL9A2 NM_001852.3:c.1114C>T
NP_001843.1:p.Pro372Ser
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 40777800 40777800 T > C TRNAN-GUU COL9A2 NM_001852.3:c.364-16A>G
4/5101 0.00039 3 three_prime_flank Uncertain Significance
View 1 40782845 40782845 G > C TRNAN-GUU COL9A2 NM_001852.3:c.25C>G
NP_001843.1:p.Arg9Gly
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 43880870 43880870 G > A TRNAN-GUU SZT2 NM_015284.3:c.616G>A
NP_056099.3:p.Asp206Asn
1/5110 0.0001 3 non_synonymous Uncertain Significance
View 1 43896304 43896304 G > A TRNAN-GUU SZT2 NM_015284.3:c.4447G>A
NP_056099.3:p.Asp1483Asn
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 44365379 44365379 A > G ST3GAL3 TRNAN-GUU NM_174963.3:c.931A>G
NM_001270462.1:c.583A>G
NR_073017.1:n.824A>G
NM_001270460.1:c.631A>G
NM_001270463.1:c.554+444A>G
NR_073019.1:n.763A>G
NM_001270459.1:c.724A>G
NR_073020.1:n.700+444A>G
NM_001270465.1:c.*22+418A>G
NM_001270466.1:c.255-30425A>G
NM_174968.3:c.886A>G
NR_073018.1:n.1088A>G
NM_001270461.1:c.676A>G
NM_174965.2:c.442+5230A>G
NM_174969.2:c.676A>G
NM_174970.2:c.349+5230A>G
NM_174967.2:c.397+5230A>G
NM_006279.3:c.724A>G
NR_073016.1:n.947A>G
NR_073021.1:n.922+444A>G
NM_174966.2:c.724A>G
NR_073023.1:n.588+5230A>G
NM_001270464.1:c.509+444A>G
NM_174971.3:c.838A>G
NM_174964.2:c.769A>G
NP_777623.2:p.Ile311Val
NP_001257391.1:p.Ile195Val
NP_001257389.1:p.Ile211Val
NP_001257388.1:p.Ile242Val
NP_777628.2:p.Ile296Val
NP_001257390.1:p.Ile226Val
NP_777629.1:p.Ile226Val
NP_006270.1:p.Ile242Val
NP_777626.1:p.Ile242Val
NP_777631.2:p.Ile280Val
NP_777624.1:p.Ile257Val
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 1 45292607 45292607 C > T PTCH2 TRNAN-GUU NM_001166292.1:c.2662G>A
NM_003738.4:c.2662G>A
NP_001159764.1:p.Asp888Asn
NP_003729.3:p.Asp888Asn
4/5119 0.00039 3 non_synonymous Uncertain Significance
View 1 45974002 45974002 G > A TRNAN-GUU MMACHC NM_015506.2:c.395G>A
NP_056321.2:p.Arg132Gln
3/6913 0.00022 3 non_synonymous Uncertain Significance
View 1 47746352 47746352 G > C TRNAN-GUU STIL NM_001048166.1:c.1778C>G
NM_003035.2:c.1778C>G
NP_001041631.1:p.Pro593Arg
NP_003026.2:p.Pro593Arg
4/5119 0.00039 3 non_synonymous Uncertain Significance
View 1 52849092 52849092 C > G TRNAN-GUU ORC1 NM_004153.3:c.2013G>C
NM_001190818.1:c.2013G>C
NM_001190819.1:c.1998G>C
NM_004153.3:c.2013G>C(p.%3D)
NM_001190818.1:c.2013G>C(p.%3D)
NM_001190819.1:c.1998G>C(p.%3D)
3/5119 0.00029 3 five_prime_exonic Uncertain Significance
View 1 53675699 53675699 A > G TRNAN-GUU CPT2 NM_000098.2:c.353A>G
NP_000089.1:p.Asp118Gly
24/6913 0.00174 3 non_synonymous Uncertain Significance
View 1 53676371 53676371 T > C TRNAN-GUU CPT2 NM_000098.2:c.1025T>C
NP_000089.1:p.Met342Thr
12/6913 0.00087 3 Uncertain Significance
View 1 62941720 62941720 T > C DOCK7 TRNAN-GUU NM_033407.3:c.5631+18A>G
NM_001272000.1:c.5604+18A>G
NM_001271999.1:c.5691+18A>G
NM_001272001.1:c.5598+18A>G
3/5101 0.00029 3 five_prime_intronic Uncertain Significance
View 1 62962089 62962089 A > T DOCK7 TRNAN-GUU NM_033407.3:c.4751T>A
NM_001272000.1:c.4724T>A
NM_001271999.1:c.4817T>A
NM_001272001.1:c.4724T>A
NP_212132.2:p.Phe1584Tyr
NP_001258929.1:p.Phe1575Tyr
NP_001258928.1:p.Phe1606Tyr
NP_001258930.1:p.Phe1575Tyr
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 63024812 63024812 C > T TRNAN-GUU DOCK7 NM_033407.3:c.2279G>A
NM_001272000.1:c.2279G>A
NM_001271999.1:c.2279G>A
NM_001272001.1:c.2279G>A
NP_212132.2:p.Arg760Gln
NP_001258929.1:p.Arg760Gln
NP_001258928.1:p.Arg760Gln
NP_001258930.1:p.Arg760Gln
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 91403435 91403435 G > A TRNAN-GUU ZNF644 NM_016620.3:c.23-19724C>T
NM_201269.2:c.3295C>T
NM_032186.4:c.23-19724C>T
NP_958357.1:p.Arg1099Cys
3/5119 0.00029 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
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 103449602 103449602 A > T COL11A1 TRNAN-GUU NM_001190709.1:c.2439+92T>A
NM_080629.2:c.2592+92T>A
NM_080630.3:c.2208+92T>A
NM_001854.3:c.2556+92T>A
20/5101 0.00206 3 Uncertain Significance
View 1 110170697 110170697 C > A AMPD2 TRNAN-GUU NM_139156.3:c.1000-8C>A
NM_001257360.1:c.1243-8C>A
NM_004037.7:c.1243-8C>A
NM_001257361.1:c.889-8C>A
NM_203404.1:c.886-8C>A
2/5119 0.0002 3 polypyrimidine_tract Uncertain Significance
View 1 110171120 110171120 A > G AMPD2 TRNAN-GUU NM_004037.7:c.1569+3A>G
NM_139156.3:c.1326+3A>G
NM_203404.1:c.1212+3A>G
NM_001257360.1:c.1569+3A>G
NM_001257361.1:c.1215+3A>G
35/5119 0.00352 3 five_prime_flank Uncertain Significance
View 1 115218640 115218640 A > T TRNAN-GUU AMPD1 NM_000036.2:c.1488-16T>A
NM_001172626.1:c.1476-16T>A
1/5101 0.0001 3 three_prime_flank Uncertain Significance
View 1 115221116 115221116 C > A TRNAN-GUU AMPD1 NM_000036.2:c.1029G>T
NM_001172626.1:c.1017G>T
NP_000027.2:p.Met343Ile
NP_001166097.1:p.Met339Ile
42/5119 0.0042 3 Uncertain Significance
View 1 120468261 120468261 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4178G>A
NP_077719.2:p.Arg1393His
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 154573889 154573889 T > C ADAR NM_001025107.2:c.344A>G
ENST00000529168.1:c.1214A>G
ENST00000368474.4:c.1229A>G
NM_001193495.1:c.344A>G
NP_001020278.1:p.Glu115Gly
ENSP00000431794.1:p.Glu405Gly
ENSP00000357459.4:p.Glu410Gly
NP_001180424.1:p.Glu115Gly
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 1 155261649 155261649 C > T PKLR NM_181871.3:c.1423G>A
NM_000298.5:c.1516G>A
NP_870986.1:p.Val475Ile
NP_000289.1:p.Val506Ile
83/6913 0.006 3 Uncertain Significance
View 1 156108453 156108453 A > C LMNA NM_170708.3:c.1783A>C
NM_170707.3:c.1873A>C
NM_001257374.1:c.1537A>C
NP_733822.1:p.Ser595Arg
NP_733821.1:p.Ser625Arg
NP_001244303.1:p.Ser513Arg
2/5771 0.00017 3 non_synonymous Uncertain Significance
View 1 156108454 156108454 G > C LMNA NM_170708.3:c.1784G>C
NM_170707.3:c.1874G>C
NM_001257374.1:c.1538G>C
NP_733822.1:p.Ser595Thr
NP_733821.1:p.Ser625Thr
NP_001244303.1:p.Ser513Thr
2/5771 0.00017 3 non_synonymous Uncertain Significance
View 1 161179934 161179934 C > A NDUFS2 NM_001166159.1:c.736C>A
NM_004550.4:c.736C>A
NP_001159631.1:p.Gln246Lys
NP_004541.1:p.Gln246Lys
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 162724611 162724611 G > A DDR2 NM_006182.2:c.383G>A
NM_001014796.1:c.383G>A
NP_006173.2:p.Arg128His
NP_001014796.1:p.Arg128His
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 182354983 182354983 C > G 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
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 1 201328373 201328373 G > A TNNT2 NM_001001431.2:c.823C>T
NM_001001430.2:c.832C>T
NM_000364.3:c.853C>T
NM_001276345.1:c.862C>T
NM_001276346.1:c.733C>T
NM_001276347.1:c.832C>T
NM_001001432.2:c.814C>T
NP_001001431.1:p.Arg275Cys
NP_001001430.1:p.Arg278Cys
NP_000355.2:p.Arg285Cys
NP_001263274.1:p.Arg288Cys
NP_001263275.1:p.Arg245Cys
NP_001263276.1:p.Arg278Cys
NP_001001432.1:p.Arg272Cys
10/5119 0.00098 3 Uncertain Significance
View 1 202722108 202722109 AA > - KDM5B NM_006618.3:c.1625_1626del
NP_006609.3:p.Phe542CysfsTer23
1/5119 0.0001 2 frameshift Uncertain Significance
View 1 205028229 205028229 C > T CNTN2 NM_005076.3:c.505C>T
NP_005067.1:p.Leu169Phe
41/5119 0.004 3 non_synonymous Uncertain Significance
View 1 211654499 211654499 T > C RD3 NM_183059.2:c.259A>G
NM_001164688.1:c.259A>G
NP_898882.1:p.Lys87Glu
NP_001158160.1:p.Lys87Glu
12/5119 0.00117 3 Uncertain Significance
View 1 214820265 214820265 A > G CENPF NM_016343.3:c.7352A>G
NP_057427.3:p.Asn2451Ser
4/5101 0.00039 3 non_synonymous Uncertain Significance
View 1 220279317 220279317 T > C IARS2 NM_018060.3:c.1151T>C
NP_060530.3:p.Met384Thr
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 1 220355619 220355619 G > A RAB3GAP2 NM_012414.3:c.2290C>T
NP_036546.2:p.Leu764Phe
19/6913 0.00137 3 non_synonymous Uncertain Significance
Displaying 1 through 50 of 896 variants