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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 70342362 70342362 G > A MED12 NM_005120.2:c.1253G>A
NP_005111.2:p.Arg418His
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 70343084 70343084 G > A MED12 NM_005120.2:c.1617+8G>A
2/13810 0.00011 3 five_prime_intronic Uncertain Significance
View X 70344113 70344113 A > G MED12 NM_005120.2:c.1849A>G
NP_005111.2:p.Thr617Ala
5/14969 0.0002 1 Uncertain Significance
View X 70356302 70356302 C > T MED12 NM_005120.2:c.5197C>T
NP_005111.2:p.Arg1733Trp
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 70389753 70389753 C > T NLGN3 NLGN3 NLGN3 NM_018977.3:c.2293C>T
NM_001166660.1:c.2233C>T
NM_181303.1:c.2353C>T
NP_061850.2:p.Arg765Cys
NP_001160132.1:p.Arg745Cys
NP_851820.1:p.Arg785Cys
3/13144 0.00015 3 non_synonymous Uncertain Significance
View X 70612819 70612819 G > A TAF1 TAF1 NM_004606.3:c.3086G>A
NM_138923.2:c.3023G>A
NP_004597.2:p.Arg1029His
NP_620278.1:p.Arg1008His
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 74670713 74670713 T > G ZDHHC15 ZDHHC15 ZDHHC15 NM_001146257.1:c.276A>C
NM_001146256.1:c.276A>C
NM_144969.2:c.303A>C
NP_001139729.1:p.Glu92Asp
NP_001139728.1:p.Glu92Asp
NP_659406.1:p.Glu101Asp
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 76849151 76849151 T > C ATRX ATRX NM_138270.2:c.5996+15A>G
NM_000489.3:c.6110+15A>G
3/13771 0.00015 3 five_prime_intronic Uncertain Significance
View X 76937461 76937461 A > C ATRX ATRX NM_138270.2:c.3173T>G
NM_000489.3:c.3287T>G
NP_612114.1:p.Leu1058Trp
NP_000480.2:p.Leu1096Trp
1/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 76937657 76937657 C > T ATRX ATRX NM_138270.2:c.2977G>A
NM_000489.3:c.3091G>A
NP_612114.1:p.Gly993Ser
NP_000480.2:p.Gly1031Ser
4/14969 0.00023 3 non_synonymous Uncertain Significance
View X 76938884 76938884 G > C ATRX ATRX NM_138270.2:c.1750C>G
NM_000489.3:c.1864C>G
NP_612114.1:p.Pro584Ala
NP_000480.2:p.Pro622Ala
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 76972631 76972631 C > T ATRX ATRX NM_138270.2:c.110G>A
NM_000489.3:c.110G>A
NP_612114.1:p.Arg37Gln
NP_000480.2:p.Arg37Gln
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 77225058 77225058 G > C ATP7A PGAM4 NM_000052.5:c.-21-2060G>C
NM_001029891.2:c.78C>G
NP_001025062.1:p.Tyr26Ter
2/14930 0.0001 3 premature_stop Uncertain Significance
View X 99663268 99663268 T > C PCDH19 PCDH19 PCDH19 NM_001105243.1:c.328A>G
NM_001184880.1:c.328A>G
NM_020766.2:c.328A>G
NP_001098713.1:p.Met110Val
NP_001171809.1:p.Met110Val
NP_065817.2:p.Met110Val
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 99921870 99921870 A > T SRPX2 NM_014467.2:c.901A>T
NP_055282.1:p.Thr301Ser
4/13144 0.00023 3 non_synonymous Uncertain Significance
View X 100652895 100652895 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.1192G>A
NM_001199973.1:c.408+2450C>T
NM_001199974.1:c.285+6085C>T
NP_000160.1:p.Glu398Lys
2/14969 0.0001 3 curation Uncertain Significance
View X 107420104 107420104 C > A COL4A6 COL4A6 NM_001847.2:c.2656G>T
NM_033641.2:c.2653G>T
NP_001838.2:p.Val886Phe
NP_378667.1:p.Val885Phe
12/13144 0.00061 3 non_synonymous Uncertain Significance
View X 110654133 110654133 T > G DCX DCX DCX DCX DCX NM_000555.3:c.70A>C
NM_001195553.1:c.-22-485A>C
NM_178153.2:c.-22-485A>C
NM_178152.2:c.-22-485A>C
NM_178151.2:c.-22-485A>C
NP_000546.2:p.Thr24Pro
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 118716536 118716536 C > G UBE2A UBE2A UBE2A NM_181762.1:c.152-15C>G
NM_003336.2:c.242-15C>G
NM_181777.1:c.17-15C>G
1/13771 4.0e-05 3 polypyrimidine_tract Uncertain Significance
View X 122755089 122755089 C > A THOC2 NM_001081550.1:c.4135G>T
NP_001075019.1:p.Val1379Phe
5/13144 0.00023 3 non_synonymous Uncertain Significance
View X 128724236 128724236 G > A OCRL OCRL NM_000276.3:c.2695G>A
NM_001587.3:c.2671G>A
NP_000267.2:p.Glu899Lys
NP_001578.2:p.Glu891Lys
6/14969 0.0003 3 non_synonymous Uncertain Significance
View X 129281749 129281749 C > T AIFM1 AIFM1 AIFM1 AIFM1 NM_001130847.3:c.452G>A
NM_145813.2:c.107-10589G>A
NM_004208.3:c.452G>A
NM_145812.2:c.440G>A
NP_001124319.1:p.Arg151Gln
NP_004199.1:p.Arg151Gln
NP_665811.1:p.Arg147Gln
1/13144 4.0e-05 1 Uncertain Significance
View X 129290514 129290514 G > C AIFM1 AIFM1 AIFM1 AIFM1 NM_001130847.3:c.170C>G
NM_145813.2:c.106+9011C>G
NM_004208.3:c.170C>G
NM_145812.2:c.107-1253C>G
NP_001124319.1:p.Ser57Cys
NP_004199.1:p.Ser57Cys
6/13144 0.00027 3 non_synonymous Uncertain Significance
View X 130413173 130413173 A > C IGSF1 IGSF1 ENST00000370910.1:c.1691-24T>G
ENST00000370903.3:c.1718-9T>G
1/11983 4.0e-05 3 polypyrimidine_tract Uncertain Significance
View X 132887803 132887803 C > A GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.738G>T
NM_001164618.1:c.690G>T
NM_001164619.1:c.576G>T
NM_001164617.1:c.738G>T
NP_004475.1:p.Leu246=
NP_001158090.1:p.Leu230=
NP_001158091.1:p.Leu192=
NP_001158089.1:p.Leu246=
1/14969 3.0e-05 3 synonymous Uncertain Significance
View X 132887804 132887804 A > G GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.737T>C
NM_001164618.1:c.689T>C
NM_001164619.1:c.575T>C
NM_001164617.1:c.737T>C
NP_004475.1:p.Leu246Pro
NP_001158090.1:p.Leu230Pro
NP_001158091.1:p.Leu192Pro
NP_001158089.1:p.Leu246Pro
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 135067741 135067741 C > A SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.-56-21C>A
NM_001042537.1:c.80C>A
NM_006359.2:c.80C>A
NP_001036002.1:p.Pro27His
NP_006350.1:p.Pro27His
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 147744174 147744174 T > C AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.914T>C
NM_001169124.1:c.926T>C
NM_001169123.1:c.914T>C
NM_001169125.1:c.914T>C
NM_002025.3:c.926T>C
NP_001162593.1:p.Ile305Thr
NP_001162595.1:p.Ile309Thr
NP_001162594.1:p.Ile305Thr
NP_001162596.1:p.Ile305Thr
NP_002016.2:p.Ile309Thr
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 148039966 148039966 C > T AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.2569C>T
NM_001169124.1:c.2563C>T
NM_001169123.1:c.2638C>T
NM_001170628.1:c.1591C>T
NM_001169125.1:c.2551C>T
NM_002025.3:c.2668C>T
NP_001162593.1:p.His857Tyr
NP_001162595.1:p.His855Tyr
NP_001162594.1:p.His880Tyr
NP_001164099.1:p.His531Tyr
NP_001162596.1:p.His851Tyr
NP_002016.2:p.His890Tyr
1/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 152954297 152954297 T > C SLC6A8 SLC6A8 NM_005629.3:c.262+6T>C
NM_001142805.1:c.262+6T>C
40/13810 0.00145 3 five_prime_flank Uncertain Significance
View X 152960291 152960291 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1714G>A
NM_001142805.1:c.1684G>A
NM_001142806.1:c.1369G>A
NP_005620.1:p.Val572Met
NP_001136277.1:p.Val562Met
NP_001136278.1:p.Val457Met
6/14969 0.0002 3 non_synonymous Uncertain Significance
View X 153128185 153128185 T > G L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.3680A>C
NM_001278116.1:c.3707A>C
NM_000425.4:c.3707A>C
NM_024003.3:c.3695A>C
NP_001137435.1:p.Glu1227Ala
NP_001265045.1:p.Glu1236Ala
NP_000416.1:p.Glu1236Ala
NP_076493.1:p.Glu1232Ala
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 153132176 153132176 T > C L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.2344A>G
NM_001278116.1:c.2359A>G
NM_000425.4:c.2359A>G
NM_024003.3:c.2359A>G
NP_001137435.1:p.Lys782Glu
NP_001265045.1:p.Lys787Glu
NP_000416.1:p.Lys787Glu
NP_076493.1:p.Lys787Glu
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 153217045 153217045 C > A HCFC1 NM_005334.2:c.5374G>T
NP_005325.2:p.Gly1792Cys
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 153296191 153296191 T > G MECP2 MECP2 NM_001110792.1:c.1124A>C
NM_004992.3:c.1088A>C
NP_001104262.1:p.Lys375Thr
NP_004983.1:p.Lys363Thr
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 153578549 153578549 G > A FLNA FLNA NM_001456.3:c.7159C>T
NM_001110556.1:c.7183C>T
NP_001447.2:p.Arg2387Trp
NP_001104026.1:p.Arg2395Trp
2/13144 0.00011 3 non_synonymous Uncertain Significance
View X 153580613 153580613 T > G FLNA FLNA NM_001456.3:c.6681A>C
NM_001110556.1:c.6705A>C
NP_001447.2:p.Glu2227Asp
NP_001104026.1:p.Glu2235Asp
4/13144 0.00023 3 non_synonymous Uncertain Significance
View X 153599549 153599549 T > C FLNA FLNA NM_001456.3:c.65A>G
NM_001110556.1:c.65A>G
NP_001447.2:p.Asp22Gly
NP_001104026.1:p.Asp22Gly
4/13144 0.00023 3 non_synonymous Uncertain Significance
View X 153628971 153628971 T > A RPL10 RPL10 RPL10 NM_001256580.1:c.384+4T>A
NM_001256577.1:c.330-72T>A
NM_006013.3:c.492+4T>A
2/13810 0.00011 3 five_prime_flank Uncertain Significance
View X 153629212 153629213 - > C RPL10 RPL10 RPL10 NM_001256580.1:c.*23dupC
NM_001256577.1:c.505dupC
NM_006013.3:c.*23dupC
NP_001243506.1:p.Leu169ProfsTer7
1/14969 3.0e-05 3 curation Uncertain Significance
View X 153667183 153667183 C > G GDI1 NM_001493.2:c.226C>G
NP_001484.1:p.Leu76Val
5/14969 0.0002 3 non_synonymous Uncertain Significance
View X 153669970 153669970 G > A GDI1 NM_001493.2:c.820G>A
NP_001484.1:p.Val274Met
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 153763492 153763492 T > C G6PD G6PD NM_000402.3:c.466A>G
NM_001042351.1:c.376A>G
NP_000393.4:p.Asn156Asp
NP_001035810.1:p.Asn126Asp
618/15597 0.0285 3 curation Uncertain Significance
View Y 16734259 16734259 G > A NLGN4Y NLGN4Y NLGN4Y NLGN4Y NLGN4Y NM_014893.4:c.260G>A
NM_001164238.1:c.260G>A
NR_028319.1:n.734G>A
NR_046355.1:n.439G>A
NM_001206850.1:c.-92-97080G>A
NP_055708.3:p.Arg87Gln
NP_001157710.1:p.Arg87Gln
2/13144 0.00015 3 non_synonymous Uncertain Significance
Displaying 2,050 through 2,094 of 2,094 variants