Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 16932454 16932454 C > T CUBN NM_001081.3:c.8671G>A
NP_001072.2:p.Val2891Ile
11/6955 0.00079 4 non_synonymous Likely Benign
View 10 17085903 17085903 C > G CUBN NM_001081.3:c.3752G>C
NP_001072.2:p.Ser1251Thr
29/6955 0.00208 4 non_synonymous Likely Benign
View 10 18828181 18828181 C > T CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.1355C>T
NM_201596.2:c.1511C>T
NM_201571.3:c.1427C>T
NM_201593.2:c.1397C>T
NM_001167945.1:c.1313C>T
NM_201597.2:c.1439C>T
NM_000724.3:c.1346C>T
NM_201570.2:c.1367C>T
NM_201590.2:c.1349C>T
NP_963866.2:p.Thr452Ile
NP_963890.2:p.Thr504Ile
NP_963865.2:p.Thr476Ile
NP_963887.2:p.Thr466Ile
NP_001161417.1:p.Thr438Ile
NP_963891.1:p.Thr480Ile
NP_000715.2:p.Thr449Ile
NP_963864.1:p.Thr456Ile
NP_963884.2:p.Thr450Ile
49/7144 0.00343 4 Likely Benign
View 10 26482160 26482160 A > G MYO3A NM_017433.4:c.4465A>G
NP_059129.3:p.Ile1489Val
72/6955 0.00518 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 28822982 28822982 G > T WAC WAC WAC NM_016628.4:c.78+19G>T
NM_100486.3:c.78+19G>T
NR_024557.2:n.552+19G>T
74/6916 0.00542 4 five_prime_intronic Likely Benign
View 10 43596033 43596033 G > A RET RET ENST00000340058.5:c.200G>A
ENST00000355710.3:c.200G>A
ENSP00000344798.4:p.Arg67His
ENSP00000347942.3:p.Arg67His
9/6955 0.00065 4 Likely Benign
View 10 50667229 50667229 C > T ERCC6 NM_000124.3:c.4114G>A
NP_000115.1:p.Gly1372Arg
17/8745 0.00097 4 non_synonymous Likely Benign
View 10 50669459 50669459 C > G ERCC6 NM_000124.3:c.3922G>C
NP_000115.1:p.Val1308Leu
36/8745 0.00206 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50678347 50678347 G > A ERCC6 NM_000124.3:c.3659C>T
NP_000115.1:p.Thr1220Ile
42/8745 0.0024 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50678722 50678722 G > C ERCC6 NM_000124.3:c.3284C>G
NP_000115.1:p.Pro1095Arg
74/8745 0.00446 5 Likely Benign
View 10 50680471 50680471 C > A ERCC6 NM_000124.3:c.2875G>T
NP_000115.1:p.Val959Leu
23/8745 0.00132 4 non_synonymous Likely Benign
View 10 50732139 50732139 C > T PGBD3 ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 NM_170753.3:c.-68G>A
NM_001277059.1:c.1337G>A
NM_001277058.1:c.1337G>A
NM_000124.3:c.1337G>A
NP_001263988.1:p.Gly446Asp
NP_001263987.1:p.Gly446Asp
NP_000115.1:p.Gly446Asp
192/8745 0.01132 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 50833662 50833662 C > T CHAT CHAT CHAT CHAT CHAT ENST00000337653.2:c.896C>T
ENST00000351556.3:c.542C>T
ENST00000395559.2:c.542C>T
ENST00000339797.1:c.542C>T
ENST00000395562.2:c.650C>T
ENSP00000337103.2:p.Pro299Leu
ENSP00000345878.3:p.Pro181Leu
ENSP00000378926.2:p.Pro181Leu
ENSP00000343486.1:p.Pro181Leu
ENSP00000378929.2:p.Pro217Leu
14/6955 0.00101 4 non_synonymous Likely Benign
View 10 50863188 50863188 G > A CHAT CHAT CHAT CHAT CHAT ENST00000337653.2:c.1682G>A
ENST00000351556.3:c.1328G>A
ENST00000395559.2:c.1328G>A
ENST00000339797.1:c.1328G>A
ENST00000395562.2:c.1436G>A
ENSP00000337103.2:p.Arg561Gln
ENSP00000345878.3:p.Arg443Gln
ENSP00000378926.2:p.Arg443Gln
ENSP00000343486.1:p.Arg443Gln
ENSP00000378929.2:p.Arg479Gln
141/6955 0.01014 4 non_synonymous Likely Benign
View 10 55582636 55582636 T > C PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.4871A>G
NM_001142773.1:c.4781A>G
NM_001142765.1:c.4643A>G
NM_001142764.1:c.4856A>G
NM_033056.3:c.4850A>G
NM_001142767.1:c.4730A>G
NM_001142766.1:c.4841A>G
NM_001142769.1:c.4409+2260A>G
NM_001142768.1:c.4790A>G
NM_001142770.1:c.4373+2260A>G
NM_001142772.1:c.4373+2260A>G
NM_001142771.1:c.4388+2260A>G
NP_001136235.1:p.Asn1624Ser
NP_001136245.1:p.Asn1594Ser
NP_001136237.1:p.Asn1548Ser
NP_001136236.1:p.Asn1619Ser
NP_149045.3:p.Asn1617Ser
NP_001136239.1:p.Asn1577Ser
NP_001136238.1:p.Asn1614Ser
NP_001136240.1:p.Asn1597Ser
92/6955 0.00661 4 non_synonymous Likely Benign
View 10 55591253 55591253 G > T PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.4039C>A
NM_001142773.1:c.3958C>A
NM_001142765.1:c.3811C>A
NM_001142764.1:c.4024C>A
NM_033056.3:c.4024C>A
NM_001142767.1:c.3913C>A
NM_001142766.1:c.4024C>A
NM_001142769.1:c.4060C>A
NM_001142768.1:c.3958C>A
NM_001142770.1:c.4024C>A
NM_001142772.1:c.4024C>A
NM_001142771.1:c.4039C>A
NP_001136235.1:p.Gln1347Lys
NP_001136245.1:p.Gln1320Lys
NP_001136237.1:p.Gln1271Lys
NP_001136236.1:p.Gln1342Lys
NP_149045.3:p.Gln1342Lys
NP_001136239.1:p.Gln1305Lys
NP_001136238.1:p.Gln1342Lys
NP_001136241.1:p.Gln1354Lys
NP_001136240.1:p.Gln1320Lys
NP_001136242.1:p.Gln1342Lys
NP_001136244.1:p.Gln1342Lys
NP_001136243.1:p.Gln1347Lys
22/6955 0.00158 4 Likely Benign
View 10 55782743 55782743 A > G PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.2450T>C
NM_001142773.1:c.2369T>C
NM_001142765.1:c.2222T>C
NM_001142764.1:c.2435T>C
NM_033056.3:c.2435T>C
NM_001142767.1:c.2324T>C
NM_001142766.1:c.2435T>C
NM_001142769.1:c.2471T>C
NM_001142768.1:c.2369T>C
NM_001142770.1:c.2435T>C
NM_001142772.1:c.2435T>C
NM_001142771.1:c.2450T>C
NP_001136235.1:p.Ile817Thr
NP_001136245.1:p.Ile790Thr
NP_001136237.1:p.Ile741Thr
NP_001136236.1:p.Ile812Thr
NP_149045.3:p.Ile812Thr
NP_001136239.1:p.Ile775Thr
NP_001136238.1:p.Ile812Thr
NP_001136241.1:p.Ile824Thr
NP_001136240.1:p.Ile790Thr
NP_001136242.1:p.Ile812Thr
NP_001136244.1:p.Ile812Thr
NP_001136243.1:p.Ile817Thr
19/6955 0.00137 4 non_synonymous Likely Benign
View 10 56288130 56288130 T > A PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.106+18A>T
NM_001142773.1:c.91+135802A>T
NM_001142765.1:c.92-493A>T
NM_001142764.1:c.92-493A>T
NM_033056.3:c.92-493A>T
NM_001142767.1:c.92-493A>T
NM_001142766.1:c.92-493A>T
NM_001142769.1:c.106+18A>T
NM_001142768.1:c.91+135802A>T
NM_001142770.1:c.92-493A>T
NM_001142772.1:c.92-493A>T
NM_001142771.1:c.106+18A>T
24/6917 0.00181 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 10 61815396 61815396 C > T ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.5517+20G>A
NM_001204404.1:c.5538+20G>A
NM_001149.3:c.2937+20G>A
NM_020987.3:c.13065+20G>A
21/6916 0.00159 4 five_prime_intronic Likely Benign
View 10 61819543 61819543 C > A ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4960G>T
NM_001204404.1:c.4981G>T
NM_001149.3:c.2380G>T
NM_020987.3:c.12596-355G>T
NP_001191332.1:p.Asp1654Tyr
NP_001191333.1:p.Asp1661Tyr
NP_001140.2:p.Asp794Tyr
70/6955 0.0051 4 non_synonymous Likely Benign
View 10 61829686 61829686 T > G ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4388-1919A>C
NM_001204404.1:c.4409-1919A>C
NM_001149.3:c.1808-1919A>C
NM_020987.3:c.10953A>C
NP_066267.2:p.Lys3651Asn
45/6955 0.00324 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 61833684 61833684 C > T ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4388-5917G>A
NM_001204404.1:c.4409-5917G>A
NM_001149.3:c.1808-5917G>A
NM_020987.3:c.6955G>A
NP_066267.2:p.Asp2319Asn
25/6955 0.0018 4 non_synonymous Likely Benign
View 10 61833686 61833686 T > C ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4388-5919A>G
NM_001204404.1:c.4409-5919A>G
NM_001149.3:c.1808-5919A>G
NM_020987.3:c.6953A>G
NP_066267.2:p.Lys2318Arg
23/6955 0.00165 4 non_synonymous Likely Benign
View 10 61834628 61834628 G > A ANK3 ANK3 ANK3 ANK3 NM_001204403.1:c.4387+5667C>T
NM_001204404.1:c.4408+5667C>T
NM_001149.3:c.1807+5667C>T
NM_020987.3:c.6011C>T
NP_066267.2:p.Ala2004Val
20/6955 0.00144 4 non_synonymous Likely Benign
View 10 61905727 61905727 T > C ANK3 ANK3 ANK3 NM_001204403.1:c.2597-6882A>G
NM_001204404.1:c.2616A>G
NM_020987.3:c.2615-6882A>G
NP_001191333.1:p.Lys872=
84/6955 0.00611 4 five_prime_exonic Likely Benign
View 10 61926343 61926343 A > - ANK3 ANK3 ANK3 NM_001204403.1:c.2596+6del
NM_001204404.1:c.2563+6del
NM_020987.3:c.2614+6del
17/6955 0.00122 4 five_prime_flank Likely Benign
View 10 62038564 62038564 T > C ANK3 ANK3 ANK3 NM_001204403.1:c.364A>G
NM_001204404.1:c.331A>G
NM_020987.3:c.382A>G
NP_001191332.1:p.Thr122Ala
NP_001191333.1:p.Thr111Ala
NP_066267.2:p.Thr128Ala
48/6955 0.00345 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 67862992 67862992 C > T CTNNA3 CTNNA3 NM_001127384.1:c.1900G>A
NM_013266.2:c.1900G>A
NP_001120856.1:p.Glu634Lys
NP_037398.2:p.Glu634Lys
14/6955 0.00101 4 non_synonymous Likely Benign
View 10 69959320 69959320 C > A MYPN MYPN MYPN MYPN NM_001256268.1:c.2599C>A
NR_045662.3:n.2908C>A
NR_045663.3:n.3610C>A
ENST00000358913.5:c.3481C>A
NP_001243197.1:p.Leu867Ile
ENSP00000351790.5:p.Leu1161Ile
24/6955 0.00173 4 Likely Benign
View 10 70179634 70179634 G > T DNA2 DNA2 NR_102264.1:n.2687C>A
NM_001080449.2:c.2713C>A
NP_001073918.2:p.Gln905Lys
91/6955 0.00676 4 non_synonymous Likely Benign
View 10 70181964 70181964 A > G DNA2 DNA2 NR_102264.1:n.2671+18T>C
NM_001080449.2:c.2697+18T>C
10/6916 0.00087 4 five_prime_intronic Likely Benign
View 10 70760271 70760271 T > C KIF1BP NM_015634.3:c.518T>C
NP_056449.1:p.Met173Thr
102/6955 0.0074 4 non_synonymous Likely Benign
View 10 73377112 73377112 G > A CDH23 CDH23 CDH23 CDH23 CDH23 NM_001171932.1:c.1096G>A
NM_001171931.1:c.1096G>A
NM_022124.5:c.1096G>A
NM_001171930.1:c.1096G>A
NM_052836.3:c.1096G>A
NP_001165403.1:p.Ala366Thr
NP_001165402.1:p.Ala366Thr
NP_071407.4:p.Ala366Thr
NP_001165401.1:p.Ala366Thr
NP_443068.1:p.Ala366Thr
141/8745 0.00818 4 Likely Benign
View 10 73492073 73492073 C > T C10orf105 CDH23 CDH23 NM_001168390.1:c.-6+5412G>A
NM_022124.5:c.4045C>T
NM_001171930.1:c.4045C>T
NP_071407.4:p.Arg1349Cys
NP_001165401.1:p.Arg1349Cys
57/8745 0.00326 3 non_synonymous Likely Benign
View 10 73562802 73562802 T > C CDH23 CDH23 CDH23 NM_001171934.1:c.910T>C
NM_001171933.1:c.910T>C
NM_022124.5:c.7630T>C
NP_001165405.1:p.Leu304=
NP_001165404.1:p.Leu304=
NP_071407.4:p.Leu2544=
69/8745 0.00395 4 Likely Benign
View 10 75863558 75863558 A > G VCL VCL NM_014000.2:c.2023-20A>G
NM_003373.3:c.2023-20A>G
11/6916 0.0008 4 three_prime_flank Likely Benign
View 10 76074407 76074407 A > G ADK ADK ADK ADK NM_001123.3:c.144-18A>G
NM_006721.3:c.195-18A>G
NM_001202450.1:c.195-18A>G
NM_001202449.1:c.90-18A>G
136/6918 0.00983 4 three_prime_flank Likely Benign
View 10 76741561 76741561 C > A KAT6B KAT6B KAT6B NM_001256469.1:c.1372C>A
NM_012330.3:c.2248C>A
NM_001256468.1:c.1699C>A
NP_001243398.1:p.Leu458Met
NP_036462.2:p.Leu750Met
NP_001243397.1:p.Leu567Met
4/6955 0.00029 4 non_synonymous Likely Benign
View 10 76781837 76781848 GAGGAGGAGGAC > - KAT6B KAT6B KAT6B NM_001256469.1:c.2355_2366del
NM_012330.3:c.3231_3242del
NM_001256468.1:c.2682_2693del
NP_001243398.1:p.Asp785_Glu788del
NP_036462.2:p.Asp1077_Glu1080del
NP_001243397.1:p.Asp894_Glu897del
42/6956 0.00302 4 in_frame_indel Likely Benign
View 10 76788489 76788489 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.3031A>G
NM_012330.3:c.3907A>G
NM_001256468.1:c.3358A>G
NP_001243398.1:p.Ser1011Gly
NP_036462.2:p.Ser1303Gly
NP_001243397.1:p.Ser1120Gly
2/6955 0.00014 4 non_synonymous Likely Benign
View 10 76788659 76788660 - > GAAGAGGAA KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229dupAAGAGGAAG
NM_012330.3:c.4097_4105dupAAGAGGAAG
NM_001256468.1:c.3548_3556dupAAGAGGAAG
NP_001243398.1:p.Glu1074_Glu1076dup
NP_036462.2:p.Glu1366_Glu1368dup
NP_001243397.1:p.Glu1183_Glu1185dup
96/6955 0.00726 4 in_frame_indel Likely Benign
View 10 76789417 76789417 G > A KAT6B KAT6B KAT6B NM_001256469.1:c.3959G>A
NM_012330.3:c.4835G>A
NM_001256468.1:c.4286G>A
NP_001243398.1:p.Arg1320His
NP_036462.2:p.Arg1612His
NP_001243397.1:p.Arg1429His
58/6955 0.00417 4 non_synonymous Likely Benign
View 10 78704741 78704742 - > A KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_002247.3:c.2536-19dupT
NM_001014797.2:c.2548-19dupT
NM_001271519.1:c.2545-19dupT
NM_001271518.1:c.2386-19dupT
NM_001161353.1:c.2659-19dupT
NM_001161352.1:c.2710-19dupT
86/6918 0.00629 4 three_prime_flank Likely Benign
View 10 79396215 79396215 G > T KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.*286C>A
NM_002247.3:c.378+808C>A
NM_001271521.1:c.*104C>A
NM_001014797.2:c.378+808C>A
NM_001271522.1:c.437C>A
NM_001271519.1:c.378+808C>A
NM_001271518.1:c.378+808C>A
NM_001161353.1:c.378+808C>A
NM_001161352.1:c.378+808C>A
NP_001258451.1:p.Pro146Gln
31/6916 0.00224 4 non_synonymous Likely Benign
View 10 79397246 79397248 GAA > - KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.153_155del
NM_002247.3:c.153_155del
NM_001271521.1:c.153_155del
NM_001014797.2:c.153_155del
NM_001271522.1:c.153_155del
NM_001271519.1:c.153_155del
NM_001271518.1:c.153_155del
NM_001161353.1:c.153_155del
NM_001161352.1:c.153_155del
NP_001258449.1:p.Ser60del
NP_002238.2:p.Ser60del
NP_001258450.1:p.Ser60del
NP_001014797.1:p.Ser60del
NP_001258451.1:p.Ser60del
NP_001258448.1:p.Ser60del
NP_001258447.1:p.Ser60del
NP_001154825.1:p.Ser60del
NP_001154824.1:p.Ser60del
11/6955 0.00086 4 in_frame_indel Likely Benign
View 10 79397263 79397264 - > GAG KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.135_137dupCTC
NM_002247.3:c.135_137dupCTC
NM_001271521.1:c.135_137dupCTC
NM_001014797.2:c.135_137dupCTC
NM_001271522.1:c.135_137dupCTC
NM_001271519.1:c.135_137dupCTC
NM_001271518.1:c.135_137dupCTC
NM_001161353.1:c.135_137dupCTC
NM_001161352.1:c.135_137dupCTC
NP_001258449.1:p.Ser60dup
NP_002238.2:p.Ser60dup
NP_001258450.1:p.Ser60dup
NP_001014797.1:p.Ser60dup
NP_001258451.1:p.Ser60dup
NP_001258448.1:p.Ser60dup
NP_001258447.1:p.Ser60dup
NP_001154825.1:p.Ser60dup
NP_001154824.1:p.Ser60dup
37/6955 0.00266 4 in_frame_indel Likely Benign
View 10 79397367 79397367 T > C KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.34A>G
NM_002247.3:c.34A>G
NM_001271521.1:c.34A>G
NM_001014797.2:c.34A>G
NM_001271522.1:c.34A>G
NM_001271519.1:c.34A>G
NM_001271518.1:c.34A>G
NM_001161353.1:c.34A>G
NM_001161352.1:c.34A>G
NP_001258449.1:p.Ser12Gly
NP_002238.2:p.Ser12Gly
NP_001258450.1:p.Ser12Gly
NP_001014797.1:p.Ser12Gly
NP_001258451.1:p.Ser12Gly
NP_001258448.1:p.Ser12Gly
NP_001258447.1:p.Ser12Gly
NP_001154825.1:p.Ser12Gly
NP_001154824.1:p.Ser12Gly
36/6955 0.00259 4 non_synonymous Likely Benign
View 10 79745881 79745881 T > C POLR3A NM_007055.3:c.2938A>G
NP_008986.2:p.Ile980Val
86/6955 0.00618 4 non_synonymous Likely Benign
View 10 79769647 79769647 C > T POLR3A NM_007055.3:c.1745G>A
NP_008986.2:p.Arg582His
30/6955 0.00216 4 Likely Benign
View 10 79769668 79769668 T > A POLR3A NM_007055.3:c.1724A>T
NP_008986.2:p.Lys575Met
61/6955 0.00453 3 Likely Benign
Displaying 200 through 250 of 2,465 variants