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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 18439808 18439809 - > TTTG CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.37-3_37-2insTTGT
NM_201596.2:c.121-3_121-2insTTGT
NM_201571.3:c.37-3_37-2insTTGT
NM_201593.2:c.121-3_121-2insTTGT
NM_001167945.1:c.37-3_37-2insTTGT
NM_201597.2:c.121-3_121-2insTTGT
148/12219 0.00614 3 polypyrimidine_tract 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
85/13333 0.00319 4 curation Likely Benign
View 10 26482160 26482160 A > G MYO3A NM_017433.4:c.4465A>G
NP_059129.3:p.Ile1489Val
135/13144 0.00517 4 curation 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
133/11953 0.00561 4 curation 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
13/13144 0.00053 4 curation Likely Benign
View 10 43602028 43602028 G > A RET RET ENST00000340058.5:c.1063+9G>A
ENST00000355710.3:c.1063+9G>A
2/11984 8.0e-05 4 Likely Benign
View 10 50667229 50667229 C > T ERCC6 NM_000124.3:c.4114G>A
NP_000115.1:p.Gly1372Arg
30/14969 0.001 4 curation Likely Benign
View 10 50669459 50669459 C > G ERCC6 NM_000124.3:c.3922G>C
NP_000115.1:p.Val1308Leu
76/14969 0.00257 4 curation Likely Benign
View 10 50678347 50678347 G > A ERCC6 NM_000124.3:c.3659C>T
NP_000115.1:p.Thr1220Ile
79/14969 0.00264 4 curation Likely Benign
View 10 50678722 50678722 G > C ERCC6 NM_000124.3:c.3284C>G
NP_000115.1:p.Pro1095Arg
129/14969 0.00448 5 curation Likely Benign
View 10 50680471 50680471 C > A ERCC6 NM_000124.3:c.2875G>T
NP_000115.1:p.Val959Leu
38/14969 0.00127 4 curation Likely Benign
View 10 50681043 50681043 G > A ERCC6 NM_000124.3:c.2741C>T
NP_000115.1:p.Thr914Met
21/14969 0.0007 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
361/14969 0.01226 4 curation 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
23/13144 0.00087 4 curation 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
255/13144 0.0097 4 curation Likely Benign
View 10 53457664 53457678 TGTATACCTCCTCCT > - PRKG1 PRKG1 CSTF2T NM_001098512.2:c.548-106659_548-106645del
NM_006258.3:c.593-106659_593-106645del
NM_015235.2:c.1632_1646del
NP_056050.1:p.Gly546_Gly550del
32/13144 0.00122 4 curation 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
180/13145 0.00688 4 curation 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
56/13144 0.00213 4 curation Likely Benign
View 10 55721636 55721636 C > T PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.2900G>A
NM_001142773.1:c.2819G>A
NM_001142765.1:c.2672G>A
NM_001142764.1:c.2885G>A
NM_033056.3:c.2885G>A
NM_001142767.1:c.2774G>A
NM_001142766.1:c.2885G>A
NM_001142769.1:c.2921G>A
NM_001142768.1:c.2819G>A
NM_001142770.1:c.2885G>A
NM_001142772.1:c.2885G>A
NM_001142771.1:c.2900G>A
NP_001136235.1:p.Arg967His
NP_001136245.1:p.Arg940His
NP_001136237.1:p.Arg891His
NP_001136236.1:p.Arg962His
NP_149045.3:p.Arg962His
NP_001136239.1:p.Arg925His
NP_001136238.1:p.Arg962His
NP_001136241.1:p.Arg974His
NP_001136240.1:p.Arg940His
NP_001136242.1:p.Arg962His
NP_001136244.1:p.Arg962His
NP_001136243.1:p.Arg967His
29/13144 0.0011 4 curation 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
32/13144 0.00122 4 curation 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
53/11948 0.00226 4 curation 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
39/11949 0.00167 4 curation 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
148/13144 0.00571 4 curation 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
87/13144 0.00331 4 curation 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
62/13144 0.0024 4 curation 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
46/13144 0.00175 4 curation 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
44/13144 0.00171 4 curation 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=
207/13144 0.00791 4 curation 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
41/11985 0.00171 4 curation 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
94/13144 0.00358 4 curation 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
24/13144 0.00091 4 curation 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
49/13144 0.00186 4 curation 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
176/13144 0.00681 4 curation Likely Benign
View 10 70181964 70181964 A > G DNA2 DNA2 NR_102264.1:n.2671+18T>C
NM_001080449.2:c.2697+18T>C
19/11946 0.00084 4 curation Likely Benign
View 10 70760271 70760271 T > C KIF1BP NM_015634.3:c.518T>C
NP_056449.1:p.Met173Thr
203/13144 0.00772 4 curation 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
231/14969 0.00782 4 curation Likely Benign
View 10 73472494 73472494 A > G C10orf105 C10orf105 CDH23 CDH23 NM_001164375.2:c.*3199T>C
NM_001168390.1:c.*3199T>C
NM_022124.5:c.3293A>G
NM_001171930.1:c.3293A>G
NP_071407.4:p.Asn1098Ser
NP_001165401.1:p.Asn1098Ser
98/14969 0.00327 4 Likely Benign
View 10 73491873 73491873 A > G C10orf105 CDH23 CDH23 NM_001168390.1:c.-6+5612T>C
NM_022124.5:c.3845A>G
NM_001171930.1:c.3845A>G
NP_071407.4:p.Asn1282Ser
NP_001165401.1:p.Asn1282Ser
166/14969 0.00558 4 curation 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
110/14969 0.00367 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=
107/14969 0.00357 4 curation Likely Benign
View 10 73565980 73565980 C > T CDH23 CDH23 CDH23 NM_001171934.1:c.1400C>T
NM_001171933.1:c.1400C>T
NM_022124.5:c.8120C>T
NP_001165405.1:p.Pro467Leu
NP_001165404.1:p.Pro467Leu
NP_071407.4:p.Pro2707Leu
14/14969 0.00047 1 Likely Benign
View 10 73570263 73570263 C > G CDH23 CDH23 CDH23 NM_001171934.1:c.2294C>G
NM_001171933.1:c.2294C>G
NM_022124.5:c.9014C>G
NP_001165405.1:p.Ala765Gly
NP_001165404.1:p.Ala765Gly
NP_071407.4:p.Ala3005Gly
12/14969 0.0004 4 curation Likely Benign
View 10 73571307 73571307 G > A CDH23 CDH23 CDH23 NM_001171934.1:c.2518G>A
NM_001171933.1:c.2518G>A
NM_022124.5:c.9238G>A
NP_001165405.1:p.Ala840Thr
NP_001165404.1:p.Ala840Thr
NP_071407.4:p.Ala3080Thr
14/14969 0.00047 4 curation Likely Benign
View 10 75672059 75672059 G > A PLAU C10orf55 PLAU ENST00000372764.3:c.172G>A
NM_001001791.2:c.-40-17C>T
ENST00000446342.1:c.121G>A
ENSP00000361850.3:p.Gly58Arg
ENSP00000388474.1:p.Gly41Arg
137/13144 0.00525 4 curation Likely Benign
View 10 75863558 75863558 A > G VCL VCL NM_014000.2:c.2023-20A>G
NM_003373.3:c.2023-20A>G
25/11946 0.00105 4 curation 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
304/11979 0.01273 4 curation Likely Benign
View 10 76735792 76735792 C > T KAT6B KAT6B KAT6B NM_001256469.1:c.1117+580C>T
NM_012330.3:c.1697C>T
NM_001256468.1:c.1444+253C>T
NP_036462.2:p.Ala566Val
4/13144 0.00015 4 curation 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
5/13144 0.00019 4 curation Likely Benign
View 10 76781723 76781723 C > A KAT6B KAT6B KAT6B NM_001256469.1:c.2230C>A
NM_012330.3:c.3106C>A
NM_001256468.1:c.2557C>A
NP_001243398.1:p.Pro744Thr
NP_036462.2:p.Pro1036Thr
NP_001243397.1:p.Pro853Thr
4/13144 0.00015 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
72/13145 0.00274 4 curation Likely Benign
Displaying 250 through 300 of 3,378 variants