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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View MT 9091 9091 A > G MT-ATP6 8/6895 0.00116 3 mitochondrial_gene_context Uncertain Significance
View MT 9152 9152 T > C MT-ATP6 4/6895 0.00044 3 mitochondrial_gene_context Uncertain Significance
View MT 9281 9281 C > T MT-CO3 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 9353 9353 C > T MT-CO3 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 9509 9509 T > C MT-CO3 8/6895 0.00109 3 mitochondrial_gene_context Uncertain Significance
View MT 11590 11590 A > G MT-ND4 7/6895 0.00102 3 mitochondrial_gene_context Uncertain Significance
View MT 12153 12153 C > T MT-TH 2/6895 0.00029 3 mitochondrial_gene_context Uncertain Significance
View MT 12175 12175 T > C MT-TH 3/6895 0.00044 3 mitochondrial_gene_context Uncertain Significance
View MT 12432 12432 C > T MT-ND5 3/6895 0.00044 3 mitochondrial_gene_context Uncertain Significance
View MT 12493 12493 A > G MT-ND5 5/6895 0.00058 3 mitochondrial_gene_context Uncertain Significance
View MT 12903 12903 T > C MT-ND5 2/6895 0.00022 3 mitochondrial_gene_context Uncertain Significance
View MT 13926 13926 T > C MT-ND5 2/6895 0.00029 3 mitochondrial_gene_context Uncertain Significance
View MT 15437 15437 G > A MT-CYB 11/6895 0.00109 3 mitochondrial_gene_context Uncertain Significance
View MT 15848 15848 A > G MT-CYB 7/6895 0.00102 3 mitochondrial_gene_context Uncertain Significance
View X 12708353 12708353 G > C FRMPD4 NM_014728.3:c.721G>C
NP_055543.2:p.Gly241Arg
2/5119 0.0002 3 non_synonymous Uncertain Significance
View X 18643336 18643336 G > A CDKL5 CDKL5 NM_003159.2:c.2465G>A
NM_001037343.1:c.2465G>A
NP_003150.1:p.Arg822His
NP_001032420.1:p.Arg822His
4/5771 0.00052 3 non_synonymous Uncertain Significance
View X 25031889 25031889 A > C ARX NM_139058.2:c.223T>G
NP_620689.1:p.Phe75Val
2/6913 0.00014 3 non_synonymous Uncertain Significance
View X 25033764 25033764 T > G ARX NM_139058.2:c.91A>C
NP_620689.1:p.Ser31Arg
4/6913 0.00036 3 non_synonymous Uncertain Significance
View X 29935647 29935647 A > G IL1RAPL1 NM_014271.3:c.845A>G
NP_055086.1:p.Tyr282Cys
2/6913 0.00022 3 non_synonymous Uncertain Significance
View X 40996261 40996261 C > G USP9X USP9X NM_001039591.2:c.640C>G
NM_001039590.2:c.640C>G
NP_001034680.2:p.Pro214Ala
NP_001034679.2:p.Pro214Ala
1/5119 0.0001 3 non_synonymous Uncertain Significance
View X 41419052 41419052 T > A CASK CASK CASK NM_001126054.2:c.1717A>T
NM_001126055.2:c.1699A>T
NM_003688.3:c.1717A>T
NP_001119526.1:p.Thr573Ser
NP_001119527.1:p.Thr567Ser
NP_003679.2:p.Thr573Ser
1/6913 0.00014 3 non_synonymous Uncertain Significance
View X 43809062 43809062 C > T NDP NM_000266.3:c.385G>A
NP_000257.1:p.Glu129Lys
2/6913 0.00022 3 Uncertain Significance
View X 47434649 47434649 T > C SYN1 SYN1 NM_006950.3:c.1183A>G
NM_133499.2:c.1183A>G
NP_008881.2:p.Ile395Val
NP_598006.1:p.Ile395Val
4/5119 0.00049 3 non_synonymous Uncertain Significance
View X 53243968 53243968 C > A KDM5C KDM5C NM_004187.3:c.1025G>T
NM_001146702.1:c.824G>T
NP_004178.2:p.Cys342Phe
NP_001140174.1:p.Cys275Phe
2/6913 0.00022 3 non_synonymous Uncertain Significance
View X 54496640 54496640 C > T FGD1 NM_004463.2:c.910G>A
NP_004454.2:p.Gly304Arg
2/6913 0.00022 3 non_synonymous Uncertain Significance
View X 62875547 62875547 A > G ARHGEF9 ARHGEF9 ARHGEF9 NM_015185.2:c.1127T>C
NM_001173480.1:c.821T>C
NM_001173479.1:c.968T>C
NP_056000.1:p.Ile376Thr
NP_001166951.1:p.Ile274Thr
NP_001166950.1:p.Ile323Thr
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View X 64738289 64738289 C > G LAS1L LAS1L LAS1L NM_001170649.1:c.1454G>C
NM_001170650.1:c.1328G>C
NM_031206.4:c.1505G>C
NP_001164120.1:p.Arg485Pro
NP_001164121.1:p.Arg443Pro
NP_112483.1:p.Arg502Pro
2/5119 0.00029 3 non_synonymous Uncertain Significance
View X 67293014 67293014 G > A OPHN1 NM_002547.2:c.1814C>T
NP_002538.1:p.Ser605Phe
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View X 69607098 69607098 G > A KIF4A ENST00000374403.3:c.2183G>A
ENSP00000363524.3:p.Arg728Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View X 70344113 70344113 A > G MED12 NM_005120.2:c.1849A>G
NP_005111.2:p.Thr617Ala
5/6913 0.00043 3 non_synonymous Uncertain Significance
View X 71787760 71787760 C > G HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166419.1:c.416G>C
NM_001166420.1:c.416G>C
NM_001166422.1:c.416G>C
NM_001166448.1:c.164+4147G>C
NR_051952.1:n.637+844G>C
NM_001166418.1:c.164+4147G>C
NM_018486.2:c.416G>C
NP_001159891.1:p.Gly139Ala
NP_001159892.1:p.Gly139Ala
NP_001159894.1:p.Gly139Ala
NP_060956.1:p.Gly139Ala
1/5119 0.0001 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
2/6895 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
1/6913 0.00014 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
3/6913 0.00036 3 non_synonymous Uncertain Significance
View X 99663268 99663268 T > C PCDH19 PCDH19 PCDH19 NM_001184880.1:c.328A>G
NM_020766.2:c.328A>G
NM_001105243.1:c.328A>G
NP_001171809.1:p.Met110Val
NP_065817.2:p.Met110Val
NP_001098713.1:p.Met110Val
2/6913 0.00014 3 non_synonymous Uncertain Significance
View X 107420104 107420104 C > A COL4A6 COL4A6 NM_033641.2:c.2653G>T
NM_001847.2:c.2656G>T
NP_378667.1:p.Val885Phe
NP_001838.2:p.Val886Phe
2/5119 0.0002 3 non_synonymous Uncertain Significance
View X 128724236 128724236 G > A OCRL OCRL NM_001587.3:c.2671G>A
NM_000276.3:c.2695G>A
NP_001578.2:p.Glu891Lys
NP_000267.2:p.Glu899Lys
2/6913 0.00022 3 non_synonymous Uncertain Significance
View X 129281749 129281749 C > T AIFM1 AIFM1 AIFM1 AIFM1 NM_004208.3:c.452G>A
NM_145812.2:c.440G>A
NM_145813.2:c.107-10589G>A
NM_001130847.3:c.452G>A
NP_004199.1:p.Arg151Gln
NP_665811.1:p.Arg147Gln
NP_001124319.1:p.Arg151Gln
1/5119 0.0001 3 non_synonymous Uncertain Significance
View X 129290514 129290514 G > C AIFM1 AIFM1 AIFM1 AIFM1 NM_004208.3:c.170C>G
NM_145812.2:c.107-1253C>G
NM_145813.2:c.106+9011C>G
NM_001130847.3:c.170C>G
NP_004199.1:p.Ser57Cys
NP_001124319.1:p.Ser57Cys
2/5119 0.00029 3 non_synonymous Uncertain Significance
View X 130413173 130413173 A > C IGSF1 IGSF1 IGSF1 ENST00000370910.1:c.1691-24T>G
ENST00000361420.3:c.1718-24T>G
ENST00000370903.3:c.1718-9T>G
1/5119 0.0001 3 polypyrimidine_tract Uncertain Significance
View X 147744174 147744174 T > C AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169124.1:c.926T>C
NM_001169125.1:c.914T>C
NM_001169122.1:c.914T>C
NM_002025.3:c.926T>C
NM_001169123.1:c.914T>C
NP_001162595.1:p.Ile309Thr
NP_001162596.1:p.Ile305Thr
NP_001162593.1:p.Ile305Thr
NP_002016.2:p.Ile309Thr
NP_001162594.1:p.Ile305Thr
2/6913 0.00022 3 non_synonymous Uncertain Significance
View X 152954297 152954297 T > C SLC6A8 SLC6A8 NM_001142805.1:c.262+6T>C
NM_005629.3:c.262+6T>C
40/6913 0.00289 3 five_prime_flank Uncertain Significance
View X 153217045 153217045 C > A HCFC1 NM_005334.2:c.5374G>T
NP_005325.2:p.Gly1792Cys
1/5119 0.0001 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
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View X 153580613 153580613 T > G FLNA FLNA NM_001110556.1:c.6705A>C
NM_001456.3:c.6681A>C
NP_001104026.1:p.Glu2235Asp
NP_001447.2:p.Glu2227Asp
1/5119 0.0001 3 non_synonymous Uncertain Significance
View X 153667183 153667183 C > G GDI1 NM_001493.2:c.226C>G
NP_001484.1:p.Leu76Val
5/6913 0.00043 3 non_synonymous Uncertain Significance
Displaying 850 through 896 of 896 variants