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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 41075904 41075904 C > T USP9X NM_001039591.2:c.6084C>T
NM_001039590.2:c.6084C>T
NM_001039591.2:c.6084C>T(p.%3D)
NM_001039590.2:c.6084C>T(p.%3D)
15/5119 0.00156 4 five_prime_exonic Likely Benign
View X 41393979 41393979 C > T CASK NM_001126054.2:c.2213G>A
NM_001126055.2:c.2210G>A
NM_003688.3:c.2282G>A
NP_001119526.1:p.Arg738Gln
NP_001119527.1:p.Arg737Gln
NP_003679.2:p.Arg761Gln
6/6913 0.00043 4 non_synonymous Likely Benign
View X 41555770 41555770 A > G CASK GPR34 NM_001126054.2:c.430-24987T>C
NM_001126055.2:c.430-24987T>C
NM_003688.3:c.430-24987T>C
NM_001097579.1:c.884A>G
NM_005300.3:c.884A>G
NP_001091048.1:p.Asn295Ser
NP_005291.1:p.Asn295Ser
19/6895 0.00174 4 non_synonymous Likely Benign
View X 41586833 41586833 G > A GPR82 CASK NM_080817.4:c.554G>A
NM_001126054.2:c.429+11804C>T
NM_001126055.2:c.429+11804C>T
NM_003688.3:c.429+11804C>T
NP_543007.1:p.Ser185Asn
7/6895 0.0008 4 non_synonymous Likely Benign
View X 41586957 41586957 C > A GPR82 CASK NM_080817.4:c.678C>A
NM_001126054.2:c.429+11680G>T
NM_001126055.2:c.429+11680G>T
NM_003688.3:c.429+11680G>T
NP_543007.1:p.Ser226Arg
1/6895 0.00015 4 non_synonymous Likely Benign
View X 44922890 44922890 C > T KDM6A NM_021140.2:c.1751C>T
NP_066963.2:p.Thr584Met
9/5119 0.00107 4 non_synonymous Likely Benign
View X 47003927 47003927 G > T NDUFB11 NM_001135998.2:c.152C>A
NM_019056.6:c.152C>A
NP_001129470.1:p.Pro51Gln
NP_061929.2:p.Pro51Gln
2/5119 0.0002 4 non_synonymous Likely Benign
View X 47028909 47028909 G > A RBM10 NM_001204468.1:c.396+12G>A
NM_001204467.1:c.201+12G>A
NM_005676.4:c.201+12G>A
NM_152856.2:c.201+12G>A
NM_001204466.1:c.201+12G>A
4/5101 0.00059 4 five_prime_intronic Likely Benign
View X 47028917 47028917 C > T RBM10 NM_001204468.1:c.396+20C>T
NM_005676.4:c.201+20C>T
NM_001204467.1:c.201+20C>T
NM_152856.2:c.201+20C>T
NM_001204466.1:c.201+20C>T
8/5101 0.00108 4 five_prime_intronic Likely Benign
View X 47774515 47774515 A > G ZNF81 NM_007137.3:c.470A>G
NP_009068.2:p.Asn157Ser
76/5119 0.01006 4 non_synonymous Likely Benign
View X 47775540 47775540 A > G ZNF81 NM_007137.3:c.1495A>G
NP_009068.2:p.Ile499Val
40/5125 0.00517 4 non_synonymous Likely Benign
View X 48337450 48337450 C > G FTSJ1 NM_177434.1:c.307C>G
NM_177439.1:c.307C>G
NM_012280.2:c.307C>G
NP_803183.1:p.Gln103Glu
NP_803188.1:p.Gln103Glu
NP_036412.1:p.Gln103Glu
22/6913 0.0021 4 non_synonymous Likely Benign
View X 48340785 48340785 C > G FTSJ1 NM_177434.1:c.656-12C>G
NM_177439.1:c.656-12C>G
NM_012280.2:c.656-6C>G
6/6913 0.00065 4 polypyrimidine_tract Likely Benign
View X 48544153 48544153 G > A WAS NM_000377.2:c.391G>A
NP_000368.1:p.Glu131Lys
28/6913 0.00282 4 Likely Benign
View X 48544502 48544502 C > A WAS NM_000377.2:c.538C>A
NP_000368.1:p.His180Asn
22/6913 0.00224 4 Likely Benign
View X 48682140 48682140 G > A HDAC6 NM_006044.2:c.3248G>A
NP_006035.2:p.Gly1083Asp
27/5119 0.00361 4 non_synonymous Likely Benign
View X 49071722 49071722 G > A CACNA1F NM_005183.2:c.3472-18C>T
NM_001256789.1:c.3439-18C>T
NM_001256790.1:c.3277-18C>T
25/5101 0.00333 4 three_prime_flank Likely Benign
View X 49104709 49104709 C > T CCDC22 NM_014008.3:c.1150C>T
NP_054727.1:p.Arg384Cys
40/5119 0.00498 4 non_synonymous Likely Benign
View X 49105970 49105970 G > A CCDC22 NM_014008.3:c.1636G>A
NP_054727.1:p.Asp546Asn
37/5119 0.00488 4 non_synonymous Likely Benign
View X 49113312 49113312 G > A FOXP3 NM_014009.3:c.543C>T
NM_001114377.1:c.438C>T
NM_014009.3:c.543C>T(p.%3D)
NM_001114377.1:c.438C>T(p.%3D)
369/6913 0.03551 3 Likely Benign
View X 50341412 50341412 C > T SHROOM4 NM_020717.3:c.4066G>A
NR_027121.1:n.4092G>A
NP_065768.2:p.Val1356Ile
26/6913 0.00246 4 non_synonymous Likely Benign
View X 50378637 50378637 G > A SHROOM4 NM_020717.3:c.436C>T
NR_027121.1:n.462C>T
NP_065768.2:p.Arg146Trp
4/6913 0.00043 4 non_synonymous Likely Benign
View X 53566753 53566753 C > G HUWE1 NM_031407.5:c.11497G>C
NP_113584.3:p.Gly3833Arg
2/6913 0.00022 4 non_synonymous Likely Benign
View X 54496615 54496615 G > A FGD1 NM_004463.2:c.935C>T
NP_004454.2:p.Pro312Leu
1/6913 0.00014 4 ClinVar pathogenic variant Likely Benign
View X 54496874 54496874 C > T FGD1 NM_004463.2:c.676G>A
NP_004454.2:p.Ala226Thr
33/6913 0.00318 4 non_synonymous Likely Benign
View X 54497833 54497833 C > T FGD1 NM_004463.2:c.395G>A
NP_004454.2:p.Arg132Gln
14/6913 0.0013 4 non_synonymous Likely Benign
View X 63410516 63410516 G > A AMER1 NM_152424.3:c.2651C>T
NP_689637.3:p.Pro884Leu
10/5119 0.00137 4 non_synonymous Likely Benign
View X 63412335 63412335 C > A AMER1 NM_152424.3:c.832G>T
NP_689637.3:p.Ala278Ser
6/5119 0.00088 4 non_synonymous Likely Benign
View X 64139942 64139942 C > A ZC4H2 NM_001178033.2:c.398+19G>T
NM_001178032.2:c.329+19G>T
NM_018684.3:c.398+19G>T
NM_001243804.1:c.329+19G>T
NR_045044.1:n.809+19G>T
57/5101 0.00735 4 five_prime_intronic Likely Benign
View X 66765162 66765170 GCAGCAGCA > - AR NM_000044.3:c.231_239del
NP_000035.2:p.Gln78_Gln80del
186/6913 0.01418 4 Likely Benign
View X 67283775 67283775 C > T OPHN1 NM_002547.2:c.2079G>A
NP_002538.1:p.Met693Ile
15/6913 0.00159 4 non_synonymous Likely Benign
View X 67283825 67283825 G > T OPHN1 NM_002547.2:c.2029C>A
NP_002538.1:p.Leu677Met
20/6913 0.00203 4 non_synonymous Likely Benign
View X 67652730 67652730 C > T OPHN1 NM_002547.2:c.133G>A
NP_002538.1:p.Ala45Thr
12/6913 0.00123 4 non_synonymous Likely Benign
View X 69674169 69674171 AGG > - DLG3 NM_021120.3:c.1405+5_1405+7del
NM_020730.2:c.394+5_394+7del
1/6913 0.00014 4 five_prime_flank Likely Benign
View X 70342211 70342211 T > C MED12 NM_005120.2:c.1248+15T>C
54/6895 0.00471 4 five_prime_intronic Likely Benign
View X 70350026 70350026 G > A MED12 NM_005120.2:c.4009G>A
NP_005111.2:p.Glu1337Lys
2/6913 0.00022 4 non_synonymous Likely Benign
View X 70352041 70352041 C > A MED12 NM_005120.2:c.4238C>A
NP_005111.2:p.Thr1413Asn
2/6913 0.00022 4 non_synonymous Likely Benign
View X 70357196 70357196 C > T MED12 NM_005120.2:c.5711C>T
NP_005111.2:p.Ala1904Val
17/6913 0.00166 4 non_synonymous Likely Benign
View X 70361115 70361116 - > CAGCAA MED12 NM_005120.2:c.6315_6320dupACAGCA
NP_005111.2:p.Gln2114_Gln2115dup
1/6913 7.0e-05 4 in_frame_indel Likely Benign
View X 70597567 70597568 - > AGG TAF1 NM_004606.3:c.893_895dupAGG
NM_138923.2:c.830_832dupAGG
NP_004597.2:p.Glu298dup
NP_620278.1:p.Glu277dup
14/5119 0.00186 4 in_frame_indel Likely Benign
View X 73641884 73641884 C > G SLC16A2 NM_006517.4:c.412C>G
NP_006508.2:p.Gln138Glu
4/6913 0.00043 4 non_synonymous Likely Benign
View X 73815846 73815847 AA > - RLIM NM_016120.3:c.-23-12_-23-11del
NM_183353.2:c.-23-12_-23-11del
5/5101 0.00069 4 polypyrimidine_tract Likely Benign
View X 73964241 73964241 G > T KIAA2022 NM_001008537.2:c.151C>A
NP_001008537.1:p.Pro51Thr
9/5119 0.00107 4 non_synonymous Likely Benign
View X 74651346 74651346 A > T ZDHHC15 NM_144969.2:c.389T>A
NM_001146256.1:c.362T>A
NP_659406.1:p.Phe130Tyr
NP_001139728.1:p.Phe121Tyr
23/5119 0.00283 4 non_synonymous Likely Benign
View X 79999575 79999575 C > T BRWD3 ENST00000373275.4:c.769G>A
ENSP00000362372.4:p.Val257Ile
3/6913 0.00022 4 non_synonymous Likely Benign
View X 99551403 99551403 G > C PCDH19 NM_001184880.1:c.3319C>G
NM_020766.2:c.3175C>G
NM_001105243.1:c.3178C>G
NP_001171809.1:p.Arg1107Gly
NP_065817.2:p.Arg1059Gly
NP_001098713.1:p.Arg1060Gly
20/6913 0.00181 4 non_synonymous Likely Benign
View X 99661978 99661978 G > A PCDH19 NM_001184880.1:c.1618C>T
NM_020766.2:c.1618C>T
NM_001105243.1:c.1618C>T
NP_001171809.1:p.Leu540Phe
NP_065817.2:p.Leu540Phe
NP_001098713.1:p.Leu540Phe
1/6913 7.0e-05 4 non_synonymous Likely Benign
View X 99919875 99919875 C > G SRPX2 NM_014467.2:c.460C>G
NP_055282.1:p.His154Asp
9/5119 0.00147 4 non_synonymous Likely Benign
View X 100653420 100653420 C > A GLA 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
39/6913 0.00347 3 Likely Benign
View X 107084632 107084632 G > A MID2 NM_012216.3:c.720+17G>A
NM_052817.2:c.720+17G>A
2/5101 0.00029 4 five_prime_intronic Likely Benign
Displaying 1,500 through 1,550 of 1,587 variants