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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
5/6955 0.00036 3 non_synonymous Uncertain Significance
View 1 981353 981353 C > T AGRN NM_198576.3:c.2690C>T
NP_940978.2:p.Ala897Val
38/6955 0.00273 3 non_synonymous Uncertain Significance
View 1 1271833 1271833 G > A DVL1 NM_004421.2:c.1702C>T
NP_004412.2:p.Arg568Trp
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 1 1960633 1960633 G > A GABRD NM_000815.4:c.775G>A
NP_000806.2:p.Val259Ile
7/6955 0.0005 3 non_synonymous Uncertain Significance
View 1 2235762 2235762 C > T SKI NM_003036.3:c.1505C>T
NP_003027.1:p.Pro502Leu
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 1 2338295 2338295 G > A PEX10 PEX10 NM_153818.1:c.700C>T
NM_002617.3:c.640C>T
NP_722540.1:p.Arg234Cys
NP_002608.1:p.Arg214Cys
5/8745 0.00029 3 non_synonymous Uncertain Significance
View 1 3301830 3301830 A > G PRDM16 PRDM16 NM_199454.2:c.553A>G
NM_022114.3:c.553A>G
NP_955533.2:p.Met185Val
NP_071397.3:p.Met185Val
6/6955 0.00043 3 non_synonymous Uncertain Significance
View 1 6529605 6529605 A > G PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 NM_001042663.1:c.2100T>C
NM_001042665.1:c.1932T>C
NM_001042664.1:c.1932T>C
NM_001265593.1:c.2139T>C
NM_020631.4:c.1932T>C
NM_001265594.1:c.1932T>C
NM_001265592.1:c.2169T>C
NM_198681.3:c.2163T>C
NP_001036128.1:p.Pro700=
NP_001036130.1:p.Pro644=
NP_001036129.1:p.Pro644=
NP_001252522.1:p.Pro713=
NP_065682.2:p.Pro644=
NP_001252523.1:p.Pro644=
NP_001252521.1:p.Pro723=
NP_941374.2:p.Pro721=
8/8745 0.00046 3 five_prime_exonic Uncertain Significance
View 1 8420319 8420319 C > A RERE RERE RERE NM_012102.3:c.3248G>T
NM_001042682.1:c.1586G>T
NM_001042681.1:c.3248G>T
NP_036234.3:p.Gly1083Val
NP_001036147.1:p.Gly529Val
NP_001036146.1:p.Gly1083Val
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 1 11736959 11736959 C > T MAD2L2 MAD2L2 NM_006341.3:c.278G>A
NM_001127325.1:c.278G>A
NP_006332.3:p.Arg93His
NP_001120797.1:p.Arg93His
6/6916 0.00043 3 non_synonymous Uncertain Significance
View 1 20964534 20964534 C > T TRNAN-GUU PINK1 NM_032409.2:c.587C>T
NP_115785.1:p.Pro196Leu
9/6955 0.00065 3 Uncertain Significance
View 1 20979136 20979136 G > A TRNAN-GUU DDOST ENST00000375048.3:c.1199C>T
ENSP00000364188.3:p.Thr400Ile
40/6955 0.00288 3 non_synonymous Uncertain Significance
View 1 20981934 20981934 C > T TRNAN-GUU DDOST ENST00000375048.3:c.601G>A
ENSP00000364188.3:p.Gly201Arg
2/6955 0.00014 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
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 1 27023087 27023087 C > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.193C>G
NM_006015.4:c.193C>G
NP_624361.1:p.Pro65Ala
NP_006006.3:p.Pro65Ala
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 1 27120874 27120874 A > G PIGV TRNAN-GUU PIGV NM_001202554.1:c.349A>G
NM_017837.3:c.349A>G
NP_001189483.1:p.Ile117Val
NP_060307.2:p.Ile117Val
21/6955 0.00151 3 non_synonymous Uncertain Significance
View 1 27930145 27930145 T > C TRNAN-GUU 1/2745 0.00018 4 intronic Uncertain Significance
View 1 38006125 38006125 G > A TRNAN-GUU SNIP1 NM_024700.3:c.559C>T
NP_078976.2:p.Arg187Trp
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 1 40539750 40539750 T > C TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.595A>G
NM_000310.3:c.904A>G
NP_001136076.1:p.Ile199Val
NP_000301.1:p.Ile302Val
21/8745 0.0012 3 non_synonymous Uncertain Significance
View 1 40770513 40770513 G > A COL9A2 TRNAN-GUU NM_001852.3:c.1114C>T
NP_001843.1:p.Pro372Ser
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 1 40777800 40777800 T > C COL9A2 TRNAN-GUU NM_001852.3:c.364-16A>G
6/6916 0.00043 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
1/6955 7.0e-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
1/6946 7.0e-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
2/6955 0.00014 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
3/8745 0.00017 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
4/6955 0.00029 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
5/8745 0.00029 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
4/6955 0.00029 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=
3/6955 0.00022 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
28/8745 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
6/8745 0.00034 3 Uncertain Significance
View 1 53676371 53676371 T > C TRNAN-GUU CPT2 NM_000098.2:c.1025T>C
NP_000089.1:p.Met342Thr
17/8745 0.00097 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
3/6916 0.00022 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
2/6955 0.00014 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
2/6955 0.00014 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
1/6955 7.0e-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
3/6955 0.00022 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
9/8745 0.00051 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
1/6955 7.0e-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
26/6916 0.00195 3 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
2/6955 0.00014 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
44/6955 0.00324 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
1/6916 7.0e-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
54/6955 0.00395 3 Uncertain Significance
View 1 120468261 120468261 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4178G>A
NP_077719.2:p.Arg1393His
2/6955 0.00014 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
2/6955 0.00022 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
2/6955 0.00014 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
2/6955 0.00014 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
103/8745 0.00589 3 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
2/7607 0.00013 3 non_synonymous Uncertain Significance
Displaying 1 through 50 of 1,125 variants