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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 107159224 107159224 T > - MID2 NM_012216.3:c.1074-4del
NM_052817.2:c.1074-4del
12/5119 0.00147 4 polypyrimidine_tract Likely Benign
View X 107869481 107869481 C > T COL4A5 NM_000495.4:c.3148C>T
NM_033380.2:c.3148C>T
NP_000486.1:p.Pro1050Ser
NP_203699.1:p.Pro1050Ser
4/6913 0.00036 4 non_synonymous Likely Benign
View X 108908714 108908714 T > C ACSL4 NM_004458.2:c.1325A>G
NM_022977.2:c.1448A>G
NP_004449.1:p.Tyr442Cys
NP_075266.1:p.Tyr483Cys
8/6913 0.00087 4 non_synonymous Likely Benign
View X 122805622 122805623 - > A THOC2 NM_001081550.1:c.769-11dupT
37/5120 0.0042 4 polypyrimidine_tract Likely Benign
View X 122846681 122846681 A > T THOC2 NM_001081550.1:c.130+19T>A
7/5101 0.00078 4 five_prime_intronic Likely Benign
View X 128674722 128674722 C > T OCRL NM_001587.3:c.41C>T
NM_000276.3:c.41C>T
NP_001578.2:p.Thr14Ile
NP_000267.2:p.Thr14Ile
68/6913 0.00673 4 non_synonymous Likely Benign
View X 132826404 132826404 C > T GPC3 NM_001164618.1:c.1237G>A
NM_001164617.1:c.1354G>A
NM_004484.3:c.1285G>A
NM_001164619.1:c.1123G>A
NP_001158090.1:p.Val413Met
NP_001158089.1:p.Val452Met
NP_004475.1:p.Val429Met
NP_001158091.1:p.Val375Met
60/6913 0.00564 4 non_synonymous Likely Benign
View X 132887715 132887715 C > T GPC3 NM_001164618.1:c.778G>A
NM_001164617.1:c.826G>A
NM_004484.3:c.826G>A
NM_001164619.1:c.664G>A
NP_001158090.1:p.Gly260Ser
NP_001158089.1:p.Gly276Ser
NP_004475.1:p.Gly276Ser
NP_001158091.1:p.Gly222Ser
2/6913 0.00022 4 non_synonymous Likely Benign
View X 135115628 135115628 G > A SLC9A6 NM_001177651.1:c.1547G>A
NM_001042537.1:c.1703G>A
NM_006359.2:c.1607G>A
NP_001171122.1:p.Arg516Gln
NP_001036002.1:p.Arg568Gln
NP_006350.1:p.Arg536Gln
19/6913 0.00181 4 non_synonymous Likely Benign
View X 135790866 135790866 C > A ARHGEF6 NM_004840.2:c.891G>T
NP_004831.1:p.Gln297His
20/6913 0.00195 4 non_synonymous Likely Benign
View X 135829660 135829660 G > A ARHGEF6 NM_004840.2:c.334+7C>T
14/6913 0.0013 4 five_prime_intronic Likely Benign
View X 136112910 136112910 C > T GPR101 NM_054021.1:c.924G>A
NM_054021.1:c.924G>A(p.%3D)
18/5119 0.00254 4 Likely Benign
View X 136113122 136113122 C > T GPR101 NM_054021.1:c.712G>A
NP_473362.1:p.Val238Ile
30/5119 0.00381 4 non_synonymous Likely Benign
View X 136649499 136649499 C > G ZIC3 NM_003413.3:c.649C>G
NP_003404.1:p.Pro217Ala
18/6913 0.00181 4 Likely Benign
View X 152014893 152014893 A > G NSDHL NM_001129765.1:c.25A>G
NM_015922.2:c.25A>G
NP_001123237.1:p.Met9Val
NP_057006.1:p.Met9Val
20/5119 0.00264 4 non_synonymous Likely Benign
View X 152853901 152853901 G > A FAM58A NM_152274.4:c.667C>T
NM_001130997.2:c.656-49C>T
NP_689487.2:p.Arg223Ter
4/5119 0.00049 4 premature_stop Likely Benign
View X 152959059 152959059 G > A SLC6A8 NM_001142805.1:c.1111+18G>A
NM_001142806.1:c.796+18G>A
NM_005629.3:c.1141+18G>A
33/6895 0.00341 4 five_prime_intronic Likely Benign
View X 152991478 152991478 C > G ABCD1 NM_000033.3:c.757C>G
NP_000024.2:p.Leu253Val
12/6913 0.00094 4 Likely Benign
View X 153129490 153129491 - > C L1CAM NM_001143963.2:c.3308-19dupG
NM_000425.4:c.3323-19dupG
NM_001278116.1:c.3323-19dupG
NM_024003.3:c.3323-19dupG
9/6895 0.00087 4 three_prime_flank Likely Benign
View X 153171700 153171700 G > A AVPR2 NR_027419.1:n.787G>A
NM_000054.4:c.740G>A
NM_001146151.1:c.740G>A
NP_000045.1:p.Arg247His
NP_001139623.1:p.Arg247His
5/5119 0.00078 4 non_synonymous Likely Benign
View X 153219691 153219691 C > T HCFC1 NM_005334.2:c.4159G>A
NP_005325.2:p.Val1387Met
9/5119 0.00117 4 non_synonymous Likely Benign
View X 153220876 153220876 C > T HCFC1 NM_005334.2:c.2974G>A
NP_005325.2:p.Ala992Thr
6/5119 0.00078 4 non_synonymous Likely Benign
View X 153296090 153296090 C > T MECP2 NM_001110792.1:c.1225G>A
NM_004992.3:c.1189G>A
NP_001104262.1:p.Glu409Lys
NP_004983.1:p.Glu397Lys
34/6913 0.00362 4 Likely Benign
View X 153296119 153296119 G > A MECP2 NM_001110792.1:c.1196C>T
NM_004992.3:c.1160C>T
NP_001104262.1:p.Pro399Leu
NP_004983.1:p.Pro387Leu
6/6913 0.00072 4 non_synonymous Likely Benign
View X 153296689 153296689 G > A MECP2 NM_001110792.1:c.626C>T
NM_004992.3:c.590C>T
NP_001104262.1:p.Thr209Met
NP_004983.1:p.Thr197Met
6/6913 0.00065 4 Likely Benign
View X 153296918 153296918 A > - MECP2 NM_004992.3:c.378-17del
NM_001110792.1:c.414-17del
84/6895 0.00812 4 three_prime_flank Likely Benign
View X 153578465 153578465 G > A FLNA NM_001110556.1:c.7267C>T
NM_001456.3:c.7243C>T
NP_001104026.1:p.Pro2423Ser
NP_001447.2:p.Pro2415Ser
4/5119 0.00059 4 non_synonymous Likely Benign
View X 153581582 153581582 G > C FLNA NM_001456.3:c.5999-10C>G
NM_001110556.1:c.6023-10C>G
4/5119 0.00059 4 polypyrimidine_tract Likely Benign
View X 153581714 153581714 G > A FLNA NM_001110556.1:c.5972C>T
NM_001456.3:c.5948C>T
NP_001104026.1:p.Ser1991Leu
NP_001447.2:p.Ser1983Leu
23/5120 0.00303 4 non_synonymous Likely Benign
View X 153590902 153590902 G > A FLNA NM_001110556.1:c.2449C>T
NM_001456.3:c.2449C>T
NP_001104026.1:p.Pro817Ser
NP_001447.2:p.Pro817Ser
10/5119 0.00137 4 non_synonymous Likely Benign
View X 153593204 153593204 C > T FLNA NM_001110556.1:c.1813G>A
NM_001456.3:c.1813G>A
NP_001104026.1:p.Asp605Asn
NP_001447.2:p.Asp605Asn
5/5119 0.00068 4 non_synonymous Likely Benign
View X 153593616 153593616 G > A FLNA NM_001110556.1:c.1579C>T
NM_001456.3:c.1579C>T
NP_001104026.1:p.Arg527Cys
NP_001447.2:p.Arg527Cys
5/5119 0.00068 4 non_synonymous Likely Benign
View X 153593845 153593845 G > A FLNA NM_001110556.1:c.1439C>T
NM_001456.3:c.1439C>T
NP_001104026.1:p.Pro480Leu
NP_001447.2:p.Pro480Leu
3/5119 0.00039 4 non_synonymous Likely Benign
View X 153666858 153666858 C > A GDI1 NM_001493.2:c.46-11C>A
7/6895 0.00065 4 polypyrimidine_tract Likely Benign
View X 153991099 153991099 C > G DKC1 NM_001142463.1:c.-142C>G
NM_001363.3:c.-142C>G
25/6895 0.00276 4 Likely Benign
View X 154508542 154508542 G > C CLIC2 NM_001289.4:c.478C>G
NP_001280.3:p.Pro160Ala
13/5119 0.00186 4 non_synonymous Likely Benign
View X 154563670 154563670 G > A CLIC2 NM_001289.4:c.57+10C>T
30/5119 0.0043 4 five_prime_intronic Likely Benign
Displaying 1,550 through 1,587 of 1,587 variants