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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 40770513 40770513 G > A COL9A2 TRNAN-GUU NM_001852.3:c.1114C>T
NP_001843.1:p.Pro372Ser
6/13144 0.00023 3 non_synonymous Uncertain Significance
View 1 40777800 40777800 T > C COL9A2 TRNAN-GUU NM_001852.3:c.364-16A>G
15/11945 0.00063 3 three_prime_flank Uncertain Significance
View 1 40782845 40782845 G > C COL9A2 TRNAN-GUU NM_001852.3:c.25C>G
NP_001843.1:p.Arg9Gly
1/13144 4.0e-05 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
1/13144 4.0e-05 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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 43896743 43896743 C > T TRNAN-GUU SZT2 NM_015284.3:c.4727C>T
NP_056099.3:p.Ser1576Leu
76/13144 0.00293 3 non_synonymous Uncertain Significance
View 1 43914007 43914007 G > A TRNAN-GUU SZT2 NM_015284.3:c.9650G>A
NP_056099.3:p.Arg3217His
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 44365379 44365379 A > G ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 TRNAN-GUU ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 NM_001270461.1:c.676A>G
NM_001270462.1:c.583A>G
NM_174968.3:c.886A>G
NM_174969.2:c.676A>G
NM_001270463.1:c.554+444A>G
NM_001270464.1:c.509+444A>G
NM_174967.2:c.397+5230A>G
NM_001270465.1:c.*22+418A>G
NM_001270466.1:c.255-30425A>G
NR_073020.1:n.700+444A>G
NR_073021.1:n.922+444A>G
NM_001270460.1:c.631A>G
NR_073023.1:n.588+5230A>G
NM_001270459.1:c.724A>G
NM_174966.2:c.724A>G
NM_174965.2:c.442+5230A>G
NM_174963.3:c.931A>G
NM_174964.2:c.769A>G
NR_073019.1:n.763A>G
NR_073018.1:n.1088A>G
NR_073017.1:n.824A>G
NR_073016.1:n.947A>G
NM_006279.3:c.724A>G
NM_174971.3:c.838A>G
NM_174970.2:c.349+5230A>G
NP_001257390.1:p.Ile226Val
NP_001257391.1:p.Ile195Val
NP_777628.2:p.Ile296Val
NP_777629.1:p.Ile226Val
NP_001257389.1:p.Ile211Val
NP_001257388.1:p.Ile242Val
NP_777626.1:p.Ile242Val
NP_777623.2:p.Ile311Val
NP_777624.1:p.Ile257Val
NP_006270.1:p.Ile242Val
NP_777631.2:p.Ile280Val
3/14969 0.0001 3 non_synonymous Uncertain Significance
View 1 44463309 44463309 C > T TRNAN-GUU SLC6A9 SLC6A9 SLC6A9 SLC6A9 SLC6A9 SLC6A9 NM_201649.3:c.2029G>A
NM_006934.3:c.1867G>A
NM_001261380.1:c.1822G>A
NR_048548.1:n.2070G>A
NR_048549.1:n.1793G>A
NM_001024845.2:c.1810G>A
NP_964012.2:p.Gly677Ser
NP_008865.2:p.Gly623Ser
NP_001248309.1:p.Gly608Ser
NP_001020016.1:p.Gly604Ser
28/13144 0.00107 3 non_synonymous Uncertain Significance
View 1 45292607 45292607 C > T TRNAN-GUU PTCH2 PTCH2 NM_003738.4:c.2662G>A
NM_001166292.1:c.2662G>A
NP_003729.3:p.Asp888Asn
NP_001159764.1:p.Asp888Asn
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 1 45297377 45297377 C > T TRNAN-GUU PTCH2 PTCH2 NM_003738.4:c.617+1G>A
NM_001166292.1:c.617+1G>A
3/11983 0.00013 2 donor_site Uncertain Significance
View 1 45407225 45407225 T > G EIF2B3 TRNAN-GUU EIF2B3 EIF2B3 NM_020365.4:c.407A>C
NM_001166588.2:c.407A>C
NM_001261418.1:c.407A>C
NP_065098.1:p.Gln136Pro
NP_001160060.1:p.Gln136Pro
NP_001248347.1:p.Gln136Pro
3/13144 0.00011 3 curation Uncertain Significance
View 1 45974002 45974002 G > A TRNAN-GUU MMACHC NM_015506.2:c.395G>A
NP_056321.2:p.Arg132Gln
8/14969 0.00027 3 non_synonymous Uncertain Significance
View 1 46660510 46660510 C > T TRNAN-GUU POMGNT1 POMGNT1 ENST00000371992.1:c.652+6G>A
ENST00000371984.3:c.652+6G>A
7/13810 0.00025 3 five_prime_flank Uncertain Significance
View 1 47746237 47746237 A > C STIL TRNAN-GUU STIL NM_001048166.1:c.1893T>G
NM_003035.2:c.1893T>G
NP_001041631.1:p.Asp631Glu
NP_003026.2:p.Asp631Glu
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 47746352 47746352 G > C STIL 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
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 1 52849092 52849092 C > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.2013G>C
NM_004153.3:c.2013G>C
NM_001190819.1:c.1998G>C
NP_001177747.1:p.Leu671=
NP_004144.2:p.Leu671=
NP_001177748.1:p.Leu666=
3/13144 0.00011 3 five_prime_exonic Uncertain Significance
View 1 52850256 52850256 G > A ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.1721C>T
NM_004153.3:c.1721C>T
NM_001190819.1:c.1706C>T
NP_001177747.1:p.Thr574Met
NP_004144.2:p.Thr574Met
NP_001177748.1:p.Thr569Met
7/13144 0.00027 3 curation Uncertain Significance
View 1 53446095 53446096 - > C TRNAN-GUU SCP2 SCP2 SCP2 SCP2 SCP2 NM_002979.4:c.854dupC
NM_001193600.1:c.722dupC
NM_001007098.2:c.722dupC
NM_001193617.1:c.611dupC
NM_001193599.1:c.782dupC
NP_002970.2:p.Arg286LysfsTer5
NP_001180529.1:p.Arg242LysfsTer5
NP_001007099.1:p.Arg242LysfsTer5
NP_001180546.1:p.Arg205LysfsTer5
NP_001180528.1:p.Arg262LysfsTer5
3/13144 0.00011 3 curation Uncertain Significance
View 1 53675699 53675699 A > G TRNAN-GUU CPT2 NM_000098.2:c.353A>G
NP_000089.1:p.Asp118Gly
48/14969 0.0016 3 non_synonymous Uncertain Significance
View 1 53675923 53675923 C > T TRNAN-GUU CPT2 NM_000098.2:c.577C>T
NP_000089.1:p.Arg193Cys
5/14969 0.00017 3 curation Uncertain Significance
View 1 53676371 53676371 T > C TRNAN-GUU CPT2 NM_000098.2:c.1025T>C
NP_000089.1:p.Met342Thr
21/14969 0.0007 3 curation 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
4/11944 0.00017 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
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 62971474 62971474 G > A DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.4370C>T
NM_001271999.1:c.4463C>T
NM_033407.3:c.4397C>T
NM_001272001.1:c.4370C>T
NP_001258929.1:p.Thr1457Met
NP_001258928.1:p.Thr1488Met
NP_212132.2:p.Thr1466Met
NP_001258930.1:p.Thr1457Met
4/13144 0.00015 3 Uncertain Significance
View 1 62979150 62979150 C > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.4154G>A
NM_001271999.1:c.4247G>A
NM_033407.3:c.4154G>A
NM_001272001.1:c.4154G>A
NP_001258929.1:p.Gly1385Glu
NP_001258928.1:p.Gly1416Glu
NP_212132.2:p.Gly1385Glu
NP_001258930.1:p.Gly1385Glu
2/13144 8.0e-05 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
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 1 63021514 63021514 G > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.2578C>A
NM_001271999.1:c.2578C>A
NM_033407.3:c.2578C>A
NM_001272001.1:c.2578C>A
NP_001258929.1:p.Pro860Thr
NP_001258928.1:p.Pro860Thr
NP_212132.2:p.Pro860Thr
NP_001258930.1:p.Pro860Thr
5/13144 0.00019 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
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 70505111 70505111 C > T TRNAN-GUU LRRC7 NM_020794.2:c.3490C>T
NP_065845.1:p.Gln1164Ter
1/13105 4.0e-05 2 premature_stop Uncertain Significance
View 1 78395146 78395146 T > C TRNAN-GUU NEXN NEXN NM_001172309.1:c.818T>C
NM_144573.3:c.1010T>C
NP_001165780.1:p.Ile273Thr
NP_653174.3:p.Ile337Thr
4/13144 0.00015 3 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
3/13144 0.00011 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
11/14969 0.00037 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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 103377731 103377731 C > A COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.4106G>T
NM_001854.3:c.4070G>T
NM_001190709.1:c.3953G>T
NM_080630.3:c.3722G>T
NP_542196.2:p.Gly1369Val
NP_001845.3:p.Gly1357Val
NP_001177638.1:p.Gly1318Val
NP_542197.3:p.Gly1241Val
2/13144 8.0e-05 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
63/11950 0.00268 3 curation Uncertain Significance
View 1 104084048 104084048 A > C TRNAN-GUU RNPC3 NM_017619.3:c.844A>C
NP_060089.1:p.Lys282Gln
2/13105 8.0e-05 3 non_synonymous Uncertain Significance
View 1 109771046 109771046 G > A TRNAN-GUU SARS NM_006513.3:c.280G>A
NP_006504.2:p.Ala94Thr
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 109777998 109777998 T > A TRNAN-GUU SARS NM_006513.3:c.914T>A
NP_006504.2:p.Val305Glu
4/13144 0.00015 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
3/11983 0.00013 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
90/11990 0.00379 3 five_prime_flank Uncertain Significance
View 1 110171391 110171391 C > T AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 NM_139156.3:c.1453C>T
NM_001257360.1:c.1696C>T
NM_203404.1:c.1339C>T
NM_001257361.1:c.1342C>T
NM_004037.7:c.1696C>T
NP_631895.1:p.Pro485Ser
NP_001244289.1:p.Pro566Ser
NP_981949.1:p.Pro447Ser
NP_001244290.1:p.Pro448Ser
NP_004028.3:p.Pro566Ser
2/13144 8.0e-05 3 non_synonymous 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
1/11944 4.0e-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
91/13144 0.0035 3 curation Uncertain Significance
View 1 115251248 115251248 C > T TRNAN-GUU NRAS NM_002524.4:c.478G>A
NP_002515.1:p.Val160Ile
1/13144 4.0e-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
2/13144 8.0e-05 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
4/13144 0.00015 3 curation Uncertain Significance
View 1 120468261 120468261 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4178G>A
NP_077719.2:p.Arg1393His
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 145508977 145508977 A > G RBM8A NM_005105.4:c.404A>G
NP_005096.1:p.Asn135Ser
6/13144 0.00023 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
2/13144 0.00011 3 non_synonymous Uncertain Significance
Displaying 50 through 100 of 2,237 variants