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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 4132 4132 G > A MT-ND1 ENST00000361390.2:c.826G>A
ENSP00000354687.2:p.Ala276Thr
1/8706 0.00011 3 non_synonymous Uncertain Significance
View MT 4295 4295 A > G MT-TI ENST00000387365.1:n.33A>G
38/8706 0.00431 3 mitochondrial_gene_context Uncertain Significance
View MT 4336 4336 T > C MT-TQ ENST00000387372.1:n.65A>G
142/8707 0.01614 3 mitochondrial_gene_context Uncertain Significance
View MT 4388 4388 A > G MT-TQ ENST00000387372.1:n.13T>C
10/8706 0.00115 3 mitochondrial_gene_context Uncertain Significance
View MT 4472 4472 T > C MT-ND2 ENST00000361453.3:c.3T>C
ENSP00000355046.4:p.Met1?
1/8706 6.0e-05 2 loss_of_initiation Uncertain Significance
View MT 4768 4768 T > C MT-ND2 ENST00000361453.3:c.299T>C
ENSP00000355046.4:p.Met100Thr
1/8706 6.0e-05 3 non_synonymous Uncertain Significance
View MT 5105 5105 T > C MT-ND2 ENST00000361453.3:c.636T>C
ENSP00000355046.4:p.Thr212=
9/8706 0.00103 3 mitochondrial_gene_context Uncertain Significance
View MT 6120 6120 A > G MT-CO1 ENST00000361624.2:c.217A>G
ENSP00000354499.2:p.Ile73Val
3/8706 0.00023 3 non_synonymous Uncertain Significance
View MT 6299 6299 A > G MT-CO1 ENST00000361624.2:c.396A>G
ENSP00000354499.2:p.Leu132=
7/8706 0.0008 3 mitochondrial_gene_context Uncertain Significance
View MT 6554 6554 C > T MT-CO1 ENST00000361624.2:c.651C>T
ENSP00000354499.2:p.Thr217=
15/8706 0.00167 3 mitochondrial_gene_context Uncertain Significance
View MT 8047 8047 T > C MT-CO2 ENST00000361739.1:c.462T>C
ENSP00000354876.1:p.Ile154=
6/8706 0.00063 3 mitochondrial_gene_context Uncertain Significance
View MT 8382 8382 C > T MT-ATP8 ENST00000361851.1:c.17C>T
ENSP00000355265.1:p.Thr6Ile
1/8706 0.00011 3 non_synonymous Uncertain Significance
View MT 8538 8538 T > C MT-ATP8 MT-ATP6 ENST00000361851.1:c.173T>C
ENST00000361899.2:c.12T>C
ENSP00000355265.1:p.Ile58Thr
ENSP00000354632.2:p.Asn4=
5/8706 0.00057 3 non_synonymous Uncertain Significance
View MT 8540 8540 T > C MT-ATP8 MT-ATP6 ENST00000361851.1:c.175T>C
ENST00000361899.2:c.14T>C
ENSP00000355265.1:p.Cys59Arg
ENSP00000354632.2:p.Leu5Pro
6/8706 0.00063 3 non_synonymous Uncertain Significance
View MT 8565 8565 A > G MT-ATP8 MT-ATP6 ENST00000361851.1:c.200A>G
ENST00000361899.2:c.39A>G
ENSP00000355265.1:p.Gln67Arg
ENSP00000354632.2:p.Thr13=
5/8706 0.00052 3 non_synonymous Uncertain Significance
View MT 8704 8704 A > G MT-ATP6 ENST00000361899.2:c.178A>G
ENSP00000354632.2:p.Met60Val
1/8706 0.00011 3 non_synonymous Uncertain Significance
View MT 8781 8781 C > A MT-ATP6 ENST00000361899.2:c.255C>A
ENSP00000354632.2:p.Leu85=
3/8706 0.00029 3 mitochondrial_gene_context Uncertain Significance
View MT 8803 8803 A > T MT-ATP6 ENST00000361899.2:c.277A>T
ENSP00000354632.2:p.Thr93Ser
6/8706 0.00069 3 non_synonymous Uncertain Significance
View MT 8816 8816 A > G MT-ATP6 ENST00000361899.2:c.290A>G
ENSP00000354632.2:p.Gln97Arg
1/8706 6.0e-05 3 non_synonymous Uncertain Significance
View MT 9091 9091 A > G MT-ATP6 ENST00000361899.2:c.565A>G
ENSP00000354632.2:p.Thr189Ala
9/8706 0.00103 3 non_synonymous Uncertain Significance
View MT 9152 9152 T > C MT-ATP6 ENST00000361899.2:c.626T>C
ENSP00000354632.2:p.Ile209Thr
7/8706 0.00052 3 non_synonymous Uncertain Significance
View MT 9281 9281 C > T MT-CO3 ENST00000362079.2:c.75C>T
ENSP00000354982.2:p.Leu25=
1/8706 0.00011 3 mitochondrial_gene_context Uncertain Significance
View MT 9325 9325 T > C MT-CO3 ENST00000362079.2:c.119T>C
ENSP00000354982.2:p.Met40Thr
1/8706 0.00011 3 non_synonymous Uncertain Significance
View MT 9353 9353 C > T MT-CO3 ENST00000362079.2:c.147C>T
ENSP00000354982.2:p.Thr49=
1/8706 0.00011 3 mitochondrial_gene_context Uncertain Significance
View MT 9509 9509 T > C MT-CO3 ENST00000362079.2:c.303T>C
ENSP00000354982.2:p.Phe101=
13/8706 0.00144 3 mitochondrial_gene_context Uncertain Significance
View MT 11590 11590 A > G MT-ND4 ENST00000361381.2:c.831A>G
ENSP00000354961.2:p.Leu277=
12/8706 0.00138 3 mitochondrial_gene_context Uncertain Significance
View MT 12153 12153 C > T MT-TH ENST00000387441.1:n.16C>T
4/8706 0.00046 3 mitochondrial_gene_context Uncertain Significance
View MT 12175 12175 T > C MT-TH ENST00000387441.1:n.38T>C
3/8706 0.00034 3 mitochondrial_gene_context Uncertain Significance
View MT 12432 12432 C > T MT-ND5 ENST00000361567.2:c.96C>T
ENSP00000354813.2:p.Tyr32=
4/8707 0.00046 3 mitochondrial_gene_context Uncertain Significance
View MT 12493 12493 A > G MT-ND5 ENST00000361567.2:c.157A>G
ENSP00000354813.2:p.Met53Val
5/8706 0.00046 3 non_synonymous Uncertain Significance
View MT 12903 12903 T > C MT-ND5 ENST00000361567.2:c.567T>C
ENSP00000354813.2:p.Phe189=
2/8706 0.00017 3 mitochondrial_gene_context Uncertain Significance
View MT 13926 13926 T > C MT-ND5 ENST00000361567.2:c.1590T>C
ENSP00000354813.2:p.Pro530=
2/8706 0.00023 3 mitochondrial_gene_context Uncertain Significance
View MT 14127 14127 A > G MT-ND5 ENST00000361567.2:c.1791A>G
ENSP00000354813.2:p.Leu597=
3/8706 0.00034 4 mitochondrial_gene_context Uncertain Significance
View MT 15437 15437 G > A MT-CYB ENST00000361789.2:c.691G>A
ENSP00000354554.2:p.Gly231Ser
11/8706 0.00086 3 non_synonymous Uncertain Significance
View MT 15848 15848 A > G MT-CYB ENST00000361789.2:c.1102A>G
ENSP00000354554.2:p.Thr368Ala
7/8706 0.0008 3 non_synonymous Uncertain Significance
View X 12708353 12708353 G > C FRMPD4 NM_014728.3:c.721G>C
NP_055543.2:p.Gly241Arg
2/6955 0.00014 3 non_synonymous Uncertain Significance
View X 18643336 18643336 G > A CDKL5 CDKL5 NM_001037343.1:c.2465G>A
NM_003159.2:c.2465G>A
NP_001032420.1:p.Arg822His
NP_003150.1:p.Arg822His
4/7607 0.00039 3 non_synonymous Uncertain Significance
View X 19369513 19369513 G > A PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.406G>A
NM_001173456.1:c.406G>A
NM_001173455.1:c.427G>A
NM_001173454.1:c.520G>A
NP_000275.1:p.Ala136Thr
NP_001166927.1:p.Ala136Thr
NP_001166926.1:p.Ala143Thr
NP_001166925.1:p.Ala174Thr
4/8745 0.00029 3 Uncertain Significance
View X 21871475 21871475 T > C MBTPS2 NM_015884.3:c.543-19T>C
3/8706 0.00017 3 three_prime_flank Uncertain Significance
View X 25031889 25031889 A > C ARX NM_139058.2:c.223T>G
NP_620689.1:p.Phe75Val
2/8745 0.00011 3 non_synonymous Uncertain Significance
View X 25033764 25033764 T > G ARX NM_139058.2:c.91A>C
NP_620689.1:p.Ser31Arg
4/8745 0.00029 3 non_synonymous Uncertain Significance
View X 29935647 29935647 A > G IL1RAPL1 NM_014271.3:c.845A>G
NP_055086.1:p.Tyr282Cys
2/8745 0.00017 3 non_synonymous Uncertain Significance
View X 40996261 40996261 C > G USP9X USP9X NM_001039590.2:c.640C>G
NM_001039591.2:c.640C>G
NP_001034679.2:p.Pro214Ala
NP_001034680.2:p.Pro214Ala
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View X 41419052 41419052 T > A CASK CASK CASK NM_003688.3:c.1717A>T
NM_001126054.2:c.1717A>T
NM_001126055.2:c.1699A>T
NP_003679.2:p.Thr573Ser
NP_001119526.1:p.Thr573Ser
NP_001119527.1:p.Thr567Ser
1/8745 0.00011 3 non_synonymous Uncertain Significance
View X 43809062 43809062 C > T NDP NM_000266.3:c.385G>A
NP_000257.1:p.Glu129Lys
2/8745 0.00017 3 Uncertain Significance
View X 47434649 47434649 T > C SYN1 SYN1 NM_133499.2:c.1183A>G
NM_006950.3:c.1183A>G
NP_598006.1:p.Ile395Val
NP_008881.2:p.Ile395Val
4/6955 0.00036 3 non_synonymous Uncertain Significance
View X 50345632 50345632 C > T SHROOM4 SHROOM4 NM_020717.3:c.3942+1G>A
NR_027121.1:n.3968+1G>A
2/8745 0.00017 3 donor_site Uncertain Significance
View X 53243968 53243968 C > A KDM5C KDM5C NM_001146702.1:c.824G>T
NM_004187.3:c.1025G>T
NP_001140174.1:p.Cys275Phe
NP_004178.2:p.Cys342Phe
2/8745 0.00017 3 non_synonymous Uncertain Significance
View X 54496640 54496640 C > T FGD1 NM_004463.2:c.910G>A
NP_004454.2:p.Gly304Arg
2/8745 0.00017 3 non_synonymous Uncertain Significance
View X 62875547 62875547 A > G ARHGEF9 ARHGEF9 ARHGEF9 NM_001173480.1:c.821T>C
NM_001173479.1:c.968T>C
NM_015185.2:c.1127T>C
NP_001166951.1:p.Ile274Thr
NP_001166950.1:p.Ile323Thr
NP_056000.1:p.Ile376Thr
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
Displaying 1,050 through 1,100 of 1,125 variants