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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 70347330 70347330 G > A MED12 NM_005120.2:c.2981+13G>A
22/11383 0.00114 4 five_prime_intronic Likely Benign
View X 70350026 70350026 G > A MED12 NM_005120.2:c.4009G>A
NP_005111.2:p.Glu1337Lys
2/11422 0.00013 4 non_synonymous Likely Benign
View X 70352041 70352041 C > A MED12 NM_005120.2:c.4238C>A
NP_005111.2:p.Thr1413Asn
2/11422 0.00013 4 non_synonymous Likely Benign
View X 70357196 70357196 C > T MED12 NM_005120.2:c.5711C>T
NP_005111.2:p.Ala1904Val
23/11422 0.00127 4 non_synonymous Likely Benign
View X 70361115 70361116 - > CAGCAA MED12 NM_005120.2:c.6315_6320dupACAGCA
NP_005111.2:p.Gln2114_Gln2115dup
1/11422 4.0e-05 4 in_frame_indel Likely Benign
View X 70514385 70514385 G > A NONO NONO NONO NONO NM_001145408.1:c.650+7G>A
NM_001145409.1:c.650+7G>A
NM_001145410.1:c.383+7G>A
NM_007363.4:c.650+7G>A
2/9555 0.0001 4 five_prime_intronic Likely Benign
View X 70597567 70597568 - > AGG TAF1 TAF1 NM_004606.3:c.893_895dupAGG
NM_138923.2:c.830_832dupAGG
NP_004597.2:p.Glu298dup
NP_620278.1:p.Glu277dup
27/9594 0.00198 4 in_frame_indel Likely Benign
View X 70787601 70787601 A > G OGT OGT NM_181672.2:c.2841A>G
NM_181673.2:c.2811A>G
NP_858058.1:p.Pro947=
NP_858059.1:p.Pro937=
3/9594 0.00016 4 five_prime_exonic Likely Benign
View X 73641884 73641884 C > G SLC16A2 NM_006517.4:c.412C>G
NP_006508.2:p.Gln138Glu
6/11422 0.00039 4 non_synonymous Likely Benign
View X 73812617 73812617 T > G RLIM RLIM NM_183353.2:c.533A>C
NM_016120.3:c.533A>C
NP_899196.1:p.Asn178Thr
NP_057204.2:p.Asn178Thr
49/9594 0.00344 4 non_synonymous Likely Benign
View X 73815846 73815847 AA > - RLIM RLIM NM_183353.2:c.-23-12_-23-11del
NM_016120.3:c.-23-12_-23-11del
13/9555 0.00094 4 polypyrimidine_tract Likely Benign
View X 73964241 73964241 G > T NEXMIF NM_001008537.2:c.151C>A
NP_001008537.1:p.Pro51Thr
23/9594 0.00156 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 74651346 74651346 A > T ZDHHC15 ZDHHC15 NM_001146256.1:c.362T>A
NM_144969.2:c.389T>A
NP_001139728.1:p.Phe121Tyr
NP_659406.1:p.Phe130Tyr
44/9594 0.00313 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 76763873 76763873 T > C ATRX ATRX NM_138270.2:c.7321A>G
NM_000489.3:c.7435A>G
NP_612114.1:p.Met2441Val
NP_000480.2:p.Met2479Val
1/11422 4.0e-05 4 non_synonymous Likely Benign
View X 76777847 76777847 T > C ATRX ATRX NM_138270.2:c.6755A>G
NM_000489.3:c.6869A>G
NP_612114.1:p.Asn2252Ser
NP_000480.2:p.Asn2290Ser
3/11422 0.00018 4 non_synonymous Likely Benign
View X 76920286 76920286 T > C ATRX ATRX NM_138270.2:c.3696-19A>G
NM_000489.3:c.3810-19A>G
1/11383 4.0e-05 4 three_prime_flank Likely Benign
View X 76939100 76939100 T > C ATRX ATRX NM_138270.2:c.1534A>G
NM_000489.3:c.1648A>G
NP_612114.1:p.Ser512Gly
NP_000480.2:p.Ser550Gly
2/11422 0.00013 4 non_synonymous Likely Benign
View X 77150937 77150937 C > T MAGT1 NM_032121.5:c.67G>A
NP_115497.4:p.Val23Ile
4/9594 0.00026 4 non_synonymous Likely Benign
View X 77244235 77244235 G > A ATP7A NM_000052.5:c.610+8G>A
24/11611 0.00133 4 five_prime_intronic Likely Benign
View X 79278546 79278546 C > A TBX22 TBX22 TBX22 NM_016954.2:c.176-13C>A
NM_001109878.1:c.176-13C>A
NM_001109879.1:c.-181-13C>A
88/9556 0.00633 4 Likely Benign
View X 79278745 79278745 G > C TBX22 TBX22 TBX22 NM_016954.2:c.356+6G>C
NM_001109878.1:c.356+6G>C
NM_001109879.1:c.-5+10G>C
4/9594 0.00031 4 five_prime_flank Likely Benign
View X 79947490 79947491 - > A BRWD3 ENST00000373275.4:c.3326-14dupT
167/11383 0.0076 4 polypyrimidine_tract Likely Benign
View X 79959085 79959085 C > G BRWD3 ENST00000373275.4:c.2729G>C
ENSP00000362372.4:p.Gly910Ala
20/11422 0.00127 4 non_synonymous Likely Benign
View X 79962936 79962936 T > C BRWD3 ENST00000373275.4:c.2542A>G
ENSP00000362372.4:p.Ser848Gly
9/11422 0.00048 4 non_synonymous Likely Benign
View X 79999575 79999575 C > T BRWD3 ENST00000373275.4:c.769G>A
ENSP00000362372.4:p.Val257Ile
13/11422 0.00074 4 non_synonymous Likely Benign
View X 84510654 84510654 A > G ZNF711 NM_021998.4:c.469A>G
NP_068838.3:p.Met157Val
6/11422 0.00031 3 non_synonymous Likely Benign
View X 99551283 99551283 C > T PCDH19 PCDH19 PCDH19 NM_001105243.1:c.3298G>A
NM_001184880.1:c.3439G>A
NM_020766.2:c.3295G>A
NP_001098713.1:p.Val1100Ile
NP_001171809.1:p.Val1147Ile
NP_065817.2:p.Val1099Ile
2/11422 9.0e-05 4 non_synonymous Likely Benign
View X 99551403 99551403 G > C PCDH19 PCDH19 PCDH19 NM_001105243.1:c.3178C>G
NM_001184880.1:c.3319C>G
NM_020766.2:c.3175C>G
NP_001098713.1:p.Arg1060Gly
NP_001171809.1:p.Arg1107Gly
NP_065817.2:p.Arg1059Gly
29/11422 0.00158 4 non_synonymous Likely Benign
View X 99661978 99661978 G > A PCDH19 PCDH19 PCDH19 NM_001105243.1:c.1618C>T
NM_001184880.1:c.1618C>T
NM_020766.2:c.1618C>T
NP_001098713.1:p.Leu540Phe
NP_001171809.1:p.Leu540Phe
NP_065817.2:p.Leu540Phe
4/11422 0.00022 4 non_synonymous Likely Benign
View X 99919875 99919875 C > G SRPX2 NM_014467.2:c.460C>G
NP_055282.1:p.His154Asp
17/9594 0.00136 4 non_synonymous Likely Benign
View X 99922289 99922289 A > G SRPX2 NM_014467.2:c.980A>G
NP_055282.1:p.Asn327Ser
10/9594 0.00078 4 Likely Benign
View X 100615717 100615717 C > A BTK NM_000061.2:c.615G>T
NP_000052.1:p.Glu205Asp
38/11422 0.00232 4 Likely Benign
View X 100653420 100653420 C > A GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.937G>T
NM_001199973.1:c.408+2975C>A
NM_001199974.1:c.285+6610C>A
NP_000160.1:p.Asp313Tyr
60/11422 0.00346 3 Likely Benign
View X 101096548 101096548 G > T NXF5 NXF5 NM_032946.2:c.241-18C>A
NR_028089.1:n.601-18C>A
39/11383 0.00242 4 three_prime_flank Likely Benign
View X 103031893 103031893 C > T PLP1 PLP1 PLP1 NM_001128834.1:c.-31C>T
NM_000533.3:c.-31C>T
NM_199478.1:c.-31C>T
38/11383 0.0022 4 Likely Benign
View X 107084632 107084632 G > A MID2 MID2 NM_012216.3:c.720+17G>A
NM_052817.2:c.720+17G>A
13/9555 0.00089 4 five_prime_intronic Likely Benign
View X 107159224 107159224 T > - MID2 MID2 NM_012216.3:c.1074-4del
NM_052817.2:c.1074-4del
20/9594 0.00141 4 polypyrimidine_tract Likely Benign
View X 107844691 107844691 A > G COL4A5 COL4A5 NM_000495.4:c.2017A>G
NM_033380.2:c.2017A>G
NP_000486.1:p.Arg673Gly
NP_203699.1:p.Arg673Gly
12/11422 0.00079 4 Likely Benign
View X 107869481 107869481 C > T COL4A5 COL4A5 NM_000495.4:c.3148C>T
NM_033380.2:c.3148C>T
NP_000486.1:p.Pro1050Ser
NP_203699.1:p.Pro1050Ser
6/11422 0.00035 4 non_synonymous Likely Benign
View X 108902572 108902572 T > C ACSL4 ACSL4 NM_022977.2:c.1978+11A>G
NM_004458.2:c.1855+11A>G
47/11383 0.00272 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 108908714 108908714 T > C ACSL4 ACSL4 NM_022977.2:c.1448A>G
NM_004458.2:c.1325A>G
NP_075266.1:p.Tyr483Cys
NP_004449.1:p.Tyr442Cys
10/11422 0.00066 4 non_synonymous Likely Benign
View X 108921491 108921491 T > C ACSL4 ACSL4 NM_022977.2:c.929+3A>G
NM_004458.2:c.806+3A>G
34/11422 0.00193 4 five_prime_flank Likely Benign
View X 110987996 110987997 - > CCT ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2599_2601dupCCT
NM_001257234.1:c.2383+7926_2383+7928dupCCT
NM_001257237.1:c.2383+7926_2383+7928dupCCT
NM_001099922.2:c.2833_2835dupCCT
NM_001257230.1:c.2383+7926_2383+7928dupCCT
NP_001244160.1:p.Pro867dup
NP_001093392.1:p.Pro945dup
121/9594 0.00735 4 in_frame_indel Likely Benign
View X 119708408 119708408 C > T CUL4B NM_003588.3:c.65G>A
NP_003579.3:p.Gly22Asp
12/11422 0.00066 4 Likely Benign
View X 122387282 122387282 G > A GRIA3 GRIA3 ENST00000371256.5:c.397G>A
ENST00000264357.5:c.397G>A
ENSP00000360302.5:p.Ala133Thr
ENSP00000264357.5:p.Ala133Thr
3/9594 0.00016 4 non_synonymous Likely Benign
View X 122759746 122759746 T > G THOC2 NM_001081550.1:c.3057+17A>C
6/9555 0.00042 4 five_prime_intronic Likely Benign
View X 122799704 122799707 AAAT > - THOC2 NM_001081550.1:c.1191-19_1191-16del
30/9555 0.0023 4 three_prime_flank Likely Benign
View X 122805622 122805623 - > A THOC2 NM_001081550.1:c.769-11dupT
46/9595 0.00287 4 polypyrimidine_tract Likely Benign
View X 122846681 122846681 A > T THOC2 NM_001081550.1:c.130+19T>A
22/9555 0.00141 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 123034381 123034381 A > G XIAP XIAP XIAP NM_001167.3:c.1138A>G
NR_037916.1:n.388A>G
NM_001204401.1:c.1138A>G
NP_001158.2:p.Ile380Val
NP_001191330.1:p.Ile380Val
2/11422 0.00013 4 non_synonymous Likely Benign
Displaying 2,700 through 2,750 of 2,802 variants