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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 123310871 123310871 A > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NM_001144914.1:c.557T>C
NM_000141.4:c.557T>C
NM_001144916.1:c.212T>C
NM_001144919.1:c.290T>C
NR_073009.1:n.859T>C
NM_022970.3:c.557T>C
NM_001144915.1:c.290T>C
NM_001144918.1:c.212T>C
NM_001144913.1:c.557T>C
NM_023029.2:c.290T>C
NM_001144917.1:c.557T>C
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
NP_001138388.1:p.Met71Thr
NP_001138391.1:p.Met97Thr
NP_075259.4:p.Met186Thr
NP_001138387.1:p.Met97Thr
NP_001138390.1:p.Met71Thr
NP_001138385.1:p.Met186Thr
NP_075418.1:p.Met97Thr
NP_001138389.1:p.Met186Thr
302/5124 0.03308 5 Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
31/5119 0.00303 5 non_synonymous Benign
View 11 6412854 6412854 C > T SMPD1 SMPD1 NM_001007593.2:c.556C>T
NM_000543.4:c.559C>T
NP_001007594.2:p.Pro186Ser
NP_000534.3:p.Pro187Ser
42/6913 0.00318 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 6413182 6413182 G > A SMPD1 SMPD1 NM_001007593.2:c.884G>A
NM_000543.4:c.887G>A
NP_001007594.2:p.Arg295Gln
NP_000534.3:p.Arg296Gln
50/6913 0.00383 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
77/6913 0.00579 5 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Benign
View 11 6638938 6638938 T > C TPP1 NM_000391.3:c.299A>G
NP_000382.3:p.Gln100Arg
43/6913 0.00318 5 Benign
View 11 6648332 6648332 T > A DCHS1 NM_003737.2:c.5938A>T
NP_003728.1:p.Thr1980Ser
37/5119 0.00361 5 non_synonymous Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
51/5119 0.00508 1 Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
32/5092 0.00324 5 polypyrimidine_tract Benign
View 11 34981990 34981990 G > A PDHX PDHX PDHX NM_003477.2:c.566G>A
NM_001135024.1:c.521G>A
NM_001166158.1:c.342+12837G>A
NP_003468.2:p.Arg189His
NP_001128496.1:p.Arg174His
33/6913 0.00239 3 non_synonymous Benign
View 11 36595760 36595760 C > A RAG1 ENST00000299440.5:c.906C>A
ENSP00000299440.5:p.Asp302Glu
81/6913 0.00593 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 44129386 44129386 A > G EXT2 EXT2 EXT2 NM_000401.3:c.223A>G
NM_207122.1:c.124A>G
NM_001178083.1:c.124A>G
NP_000392.3:p.Met75Val
NP_997005.1:p.Met42Val
NP_001171554.1:p.Met42Val
36/5120 0.00361 5 non_synonymous Benign
View 11 47469654 47469654 A > G RAPSN RAPSN NM_005055.4:c.241T>C
NM_032645.4:c.241T>C
NP_005046.2:p.Phe81Leu
NP_116034.2:p.Phe81Leu
91/6913 0.00658 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
75/5119 0.00752 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
617/4460 0.13823 5 Benign
View 11 67813930 67813930 A > G TCIRG1 TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
657/6898 0.08589 5 Benign
View 11 67814979 67814979 G > C TCIRG1 TCIRG1 ENST00000265686.3:c.1245G>C
ENST00000532635.1:c.597G>C
ENST00000265686.3:c.1245G>C(p.=)
ENST00000532635.1:c.597G>C(p.=)
6878/6913 0.98669 5 Common ExAC MAF original cat: TYPE_4 - synonymous Benign
View 11 67817991 67817992 - > GGCCTG TCIRG1 TCIRG1 ENST00000265686.3:c.2285_2290dupTGGGCC
ENST00000532635.1:c.1637_1642dupTGGGCC
ENSP00000265686.3:p.Leu762_Gly763dup
ENSP00000434407.1:p.Leu546_Gly547dup
79/6913 0.00586 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 76868309 76868310 - > TGCCCACATTTT MYO7A MYO7A MYO7A NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT
NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT
77/6895 0.00573 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 11 76925733 76925733 G > A MYO7A MYO7A NM_001127180.1:c.6520G>A
NM_000260.3:c.6640G>A
NP_001120652.1:p.Gly2174Ser
NP_000251.3:p.Gly2214Ser
68/6913 0.00528 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 108114727 108114727 G > C ATM ENST00000278616.4:c.544G>C
ENSP00000278616.4:p.Val182Leu
31/6913 0.00231 5 Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
61/6913 0.00448 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
43/6913 0.00318 5 Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
37/6913 0.00275 5 Benign
View 11 108151707 108151708 - > T ATM ENST00000278616.4:c.3403-15dupT
27/6895 0.00203 5 polypyrimidine_tract Benign
View 11 117252491 117252491 C > G CEP164 CEP164 NM_014956.4:c.1484C>G
NM_001271933.1:c.1493C>G
NP_055771.4:p.Pro495Arg
NP_001258862.1:p.Pro498Arg
5/5119 0.00059 5 non_synonymous Benign
View 11 118343378 118343378 G > A KMT2A KMT2A NM_005933.3:c.1504G>A
NM_001197104.1:c.1504G>A
NP_005924.2:p.Glu502Lys
NP_001184033.1:p.Glu502Lys
61/5119 0.00596 5 non_synonymous Benign
View 11 119145667 119145667 A > G CBL NM_005188.3:c.869+4A>G
37/5119 0.00371 5 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Benign
View 11 128709126 128709126 A > G KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1070T>C
NM_153765.2:c.1064T>C
NM_153764.2:c.1013T>C
NM_153766.2:c.1013T>C
NM_153767.3:c.1013T>C
NP_000211.1:p.Met357Thr
NP_722449.3:p.Met355Thr
NP_722448.1:p.Met338Thr
NP_722450.1:p.Met338Thr
NP_722451.1:p.Met338Thr
111/6913 0.00817 5 Benign
View 11 128709940 128709940 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.256A>G
NM_153765.2:c.250A>G
NM_153764.2:c.199A>G
NM_153766.2:c.199A>G
NM_153767.3:c.199A>G
NP_000211.1:p.Thr86Ala
NP_722449.3:p.Thr84Ala
NP_722448.1:p.Thr67Ala
NP_722450.1:p.Thr67Ala
NP_722451.1:p.Thr67Ala
162/6913 0.01266 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 2794993 2794993 C > T CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C-AS1 CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C NM_001129841.1:c.5665C>T
NM_000719.6:c.5665C>T
NM_001129839.1:c.5683C>T
NM_001129827.1:c.5809C>T
NM_001129833.1:c.5722C>T
NM_001129836.1:c.5716C>T
NM_001129830.1:c.5770C>T
NM_001129843.1:c.5665C>T
NM_001129838.1:c.5689C>T
NM_001129834.1:c.5722C>T
NM_001167624.1:c.5770C>T
NM_001129842.1:c.5665C>T
NR_045725.1:n.333+4313G>A
NM_001167623.1:c.5665C>T
NM_001129829.1:c.5788C>T
NM_001129846.1:c.5632C>T
NM_001129844.1:c.5656C>T
NM_001129835.1:c.5722C>T
NM_001129837.1:c.5689C>T
NM_001129832.1:c.5725C>T
NM_001167625.1:c.5845C>T
NM_001129831.1:c.5749C>T
NM_001129840.1:c.5665C>T
NM_199460.2:c.5914C>T
NP_001123313.1:p.Arg1889Cys
NP_000710.5:p.Arg1889Cys
NP_001123311.1:p.Arg1895Cys
NP_001123299.1:p.Arg1937Cys
NP_001123305.1:p.Arg1908Cys
NP_001123308.1:p.Arg1906Cys
NP_001123302.1:p.Arg1924Cys
NP_001123315.1:p.Arg1889Cys
NP_001123310.1:p.Arg1897Cys
NP_001123306.1:p.Arg1908Cys
NP_001161096.1:p.Arg1924Cys
NP_001123314.1:p.Arg1889Cys
NP_001161095.1:p.Arg1889Cys
NP_001123301.1:p.Arg1930Cys
NP_001123318.1:p.Arg1878Cys
NP_001123316.1:p.Arg1886Cys
NP_001123307.1:p.Arg1908Cys
NP_001123309.1:p.Arg1897Cys
NP_001123304.1:p.Arg1909Cys
NP_001161097.1:p.Arg1949Cys
NP_001123303.1:p.Arg1917Cys
NP_001123312.1:p.Arg1889Cys
NP_955630.2:p.Arg1972Cys
48/5308 0.00471 5 Benign
View 12 5153405 5153405 G > T KCNA5 NM_002234.3:c.92G>T
NP_002225.2:p.Gly31Val
45/5119 0.00449 5 non_synonymous Benign
View 12 6145649 6145649 A > T VWF NM_000552.3:c.2451T>A
NP_000543.2:p.His817Gln
71/5119 0.00742 5 Benign
View 12 7355269 7355269 T > C PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131023.1:c.860T>C
NM_000319.4:c.815T>C
NM_001131026.1:c.815T>C
NM_001131025.1:c.815T>C
NM_001131024.1:c.704T>C
NP_001124495.1:p.Met287Thr
NP_000310.2:p.Met272Thr
NP_001124498.1:p.Met272Thr
NP_001124497.1:p.Met272Thr
NP_001124496.1:p.Met235Thr
119/6913 0.00882 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 12 9020600 9020600 G > A A2ML1 A2ML1 NM_144670.4:c.3880G>A
NR_046256.1:n.2575G>A
NP_653271.2:p.Val1294Ile
12/5101 0.00118 5 non_synonymous Benign
View 12 9085325 9085330 GCAGCA > - PHC1 NM_004426.2:c.1284_1289del
NP_004417.2:p.Gln438_Gln439del
58/5120 0.00566 5 in_frame_indel Benign
View 12 10277906 10277906 G > A CLEC7A CLEC7A CLEC7A CLEC7A CLEC7A NM_197948.2:c.482C>T
NM_022570.4:c.344C>T
NM_197947.2:c.482C>T
NM_197949.2:c.344C>T
NM_197950.2:c.245C>T
NP_922939.1:p.Ser161Leu
NP_072092.2:p.Ser115Leu
NP_922938.1:p.Ser161Leu
NP_922940.1:p.Ser115Leu
NP_922941.1:p.Ser82Leu
35/5119 0.00371 5 non_synonymous Benign
View 12 21355489 21355489 C > G SLCO1B1 NM_006446.4:c.1200C>G
NP_006437.3:p.Phe400Leu
40/5401 0.00417 5 non_synonymous Benign
View 12 49433883 49433883 G > A KMT2D NM_003482.3:c.7670C>T
NP_003473.3:p.Pro2557Leu
94/5119 0.00918 5 non_synonymous Benign
View 12 49445190 49445216 del > - KMT2D NM_003482.3:c.2250_2276del
NP_003473.3:p.Arg755_Pro-4015del
10/5119 0.00107 5 in_frame_indel Benign
View 12 49445392 49445392 G > T KMT2D NM_003482.3:c.2074C>A
NP_003473.3:p.Pro692Thr
44/5119 0.0043 5 non_synonymous Benign
View 12 52139786 52139786 A > T SCN8A SCN8A NM_001177984.2:c.2098A>T
NM_014191.3:c.2098A>T
NP_001171455.1:p.Ile700Leu
NP_055006.1:p.Ile700Leu
15/5119 0.00156 5 non_synonymous Benign
View 12 52965165 52965165 A > G KRT74 NM_175053.3:c.821T>C
NP_778223.2:p.Phe274Ser
12/5119 0.00117 5 Benign
View 12 56101421 56101421 A > C ITGA7 ITGA7 ITGA7 NM_001144997.1:c.85+4426T>G
NM_002206.2:c.46T>G
NM_001144996.1:c.46T>G
NP_002197.2:p.Cys16Gly
NP_001138468.1:p.Cys16Gly
18/5119 0.00186 5 non_synonymous Benign
View 12 58020582 58020582 G > A B4GALNT1 B4GALNT1 NM_001276468.1:c.1382C>T
NM_001478.4:c.1547C>T
NP_001263397.1:p.Ala461Val
NP_001469.1:p.Ala516Val
91/5119 0.00889 5 non_synonymous Benign
View 12 66856782 66856782 C > T GRIP1 GRIP1 NM_001178074.1:c.964G>A
NM_021150.3:c.964G>A
NP_001171545.1:p.Ala322Thr
NP_066973.2:p.Ala322Thr
27/5119 0.00264 5 non_synonymous Benign
View 12 102025925 102025925 G > A MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 NM_001254720.1:c.445+9G>A
NM_001254718.1:c.481+9G>A
NM_206820.2:c.481+9G>A
NM_001254722.1:c.403+9G>A
NM_206819.2:c.556+9G>A
NM_206821.2:c.481+9G>A
NM_002465.3:c.556+9G>A
NM_001254723.1:c.442+9G>A
NM_001254719.1:c.481+9G>A
NM_001254721.1:c.481+9G>A
27/5119 0.00264 5 five_prime_intronic Benign
View 12 110230597 110230597 C > T TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_001177433.1:c.1363G>A
NM_021625.4:c.1684G>A
NM_147204.2:c.1504G>A
NM_001177428.1:c.1543G>A
NM_001177431.1:c.1582G>A
NP_001170904.1:p.Val455Ile
NP_067638.3:p.Val562Ile
NP_671737.1:p.Val502Ile
NP_001170899.1:p.Val515Ile
NP_001170902.1:p.Val528Ile
83/5119 0.00811 5 Benign
View 12 110240859 110240859 C > A TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.649G>T
NM_001177433.1:c.649G>T
NM_147204.2:c.649G>T
NM_001177428.1:c.649G>T
NM_001177431.1:c.547G>T
NP_067638.3:p.Ala217Ser
NP_001170904.1:p.Ala217Ser
NP_671737.1:p.Ala217Ser
NP_001170899.1:p.Ala217Ser
NP_001170902.1:p.Ala183Ser
33/5119 0.00352 5 Benign
View 12 111066563 111066565 AAA > - TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 NM_001173975.1:c.305-6_305-4del
NM_001082537.2:c.473-6_473-4del
NM_024549.5:c.473-6_473-4del
NM_001082538.2:c.473-6_473-4del
NM_001173976.1:c.293-6_293-4del
101/5119 0.01055 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
Displaying 50 through 100 of 560 variants