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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 112771421 112771421 A > G SHOC2 SHOC2 NM_001269039.1:c.1456A>G
NM_007373.3:c.1594A>G
NP_001255968.1:p.Ser486Gly
NP_031399.2:p.Ser532Gly
22/9594 0.00115 5 non_synonymous Benign
View 10 123310871 123310871 A > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.859T>C
NM_001144913.1:c.557T>C
NM_001144914.1:c.557T>C
NM_000141.4:c.557T>C
NM_023029.2:c.290T>C
NM_001144919.1:c.290T>C
NM_001144915.1:c.290T>C
NM_001144916.1:c.212T>C
NM_001144917.1:c.557T>C
NM_022970.3:c.557T>C
NM_001144918.1:c.212T>C
NP_001138385.1:p.Met186Thr
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
NP_075418.1:p.Met97Thr
NP_001138391.1:p.Met97Thr
NP_001138387.1:p.Met97Thr
NP_001138388.1:p.Met71Thr
NP_001138389.1:p.Met186Thr
NP_075259.4:p.Met186Thr
NP_001138390.1:p.Met71Thr
663/9599 0.03891 5 Benign
View 10 131760506 131760506 G > A EBF3 NM_001005463.2:c.356-16C>T
12/9555 0.00063 5 three_prime_flank Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
64/9594 0.00339 5 non_synonymous Benign
View 11 1271906 1271906 C > T MUC5B NM_002458.2:c.13796C>T
NP_002449.2:p.Thr4599Met
113/9555 0.00617 5 non_synonymous Benign
View 11 2930593 2930593 C > - SLC22A18 SLC22A18 NM_183233.2:c.403+8del
NM_002555.5:c.403+8del
15/9594 0.00083 5 five_prime_intronic Benign
View 11 5248243 5248243 A > G HBB NM_000518.4:c.9T>C
NP_000509.1:p.His3=
10687/11422 0.79005 5 Benign
View 11 6412854 6412854 C > T SMPD1 SMPD1 NM_000543.4:c.559C>T
NM_001007593.2:c.556C>T
NP_000534.3:p.Pro187Ser
NP_001007594.2:p.Pro186Ser
93/11422 0.0042 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 6413182 6413182 G > A SMPD1 SMPD1 NM_000543.4:c.887G>A
NM_001007593.2:c.884G>A
NP_000534.3:p.Arg296Gln
NP_001007594.2:p.Arg295Gln
87/11422 0.00394 5 Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
137/11422 0.00617 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
79/11422 0.00355 5 Benign
View 11 6648332 6648332 T > A DCHS1 ENST00000299441.3:c.5938A>T
ENSP00000299441.3:p.Thr1980Ser
88/9594 0.00464 5 non_synonymous Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
105/9594 0.00563 1 Benign
View 11 9871781 9871784 GATT > - SBF2 NM_030962.3:c.2611-19_2611-16del
133/9556 0.00717 5 three_prime_flank Benign
View 11 10521644 10521644 T > G AMPD3 AMPD3 AMPD3 AMPD3 AMPD3 NM_001025389.1:c.1569T>G
NM_001025390.1:c.1590T>G
NM_001172430.1:c.1569T>G
NM_001172431.1:c.1092T>G
NM_000480.2:c.1596T>G
NP_001020560.1:p.Phe523Leu
NP_001020561.1:p.Phe530Leu
NP_001165901.1:p.Phe523Leu
NP_001165902.1:p.Phe364Leu
NP_000471.1:p.Phe532Leu
16/9594 0.00083 5 non_synonymous Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
80/9546 0.00429 5 polypyrimidine_tract Benign
View 11 22249088 22249088 G > A ANO5 ANO5 NM_213599.2:c.604G>A
NM_001142649.1:c.601G>A
NP_998764.1:p.Glu202Lys
NP_001136121.1:p.Glu201Lys
61/9594 0.00328 5 Benign
View 11 26463582 26463582 C > T ANO3 NM_031418.2:c.164C>T
NP_113606.2:p.Ser55Phe
126/9594 0.00667 5 non_synonymous Benign
View 11 34981990 34981990 G > A PDHX PDHX PDHX NM_001166158.1:c.342+12837G>A
NM_003477.2:c.566G>A
NM_001135024.1:c.521G>A
NP_003468.2:p.Arg189His
NP_001128496.1:p.Arg174His
59/11422 0.00258 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 36595760 36595760 C > A RAG1 ENST00000299440.5:c.906C>A
ENSP00000299440.5:p.Asp302Glu
163/11422 0.00735 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_001178083.1:c.124A>G
NM_207122.1:c.124A>G
NP_000392.3:p.Met75Val
NP_001171554.1:p.Met42Val
NP_997005.1:p.Met42Val
71/9595 0.0038 5 non_synonymous Benign
View 11 47368170 47368170 G > A MYBPC3 NM_000256.3:c.926+8C>T
16/9594 0.00083 5 five_prime_intronic Benign
View 11 47469654 47469654 A > G RAPSN RAPSN NM_032645.4:c.241T>C
NM_005055.4:c.241T>C
NP_116034.2:p.Phe81Leu
NP_005046.2:p.Phe81Leu
157/11422 0.00687 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 11 57561543 57561543 A > G CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 TMX2-CTNND1 ENST00000358694.6:c.257A>G
ENST00000361332.4:c.257A>G
ENST00000530094.1:c.-47A>G
ENST00000528232.1:c.-47A>G
ENST00000532463.1:c.-47A>G
ENST00000399050.4:c.257A>G
ENST00000426142.2:c.-47A>G
ENST00000532787.1:c.-47A>G
ENST00000415361.2:c.-47A>G
ENST00000526357.1:c.95A>G
ENST00000529873.1:c.95A>G
ENST00000428599.2:c.257A>G
ENST00000532245.1:c.-36-1506A>G
ENST00000532649.1:c.95A>G
ENST00000529986.1:c.-47A>G
ENST00000528621.1:c.95A>G
ENST00000530748.1:c.95A>G
ENST00000532844.1:c.95A>G
ENST00000361391.6:c.257A>G
ENST00000361796.4:c.257A>G
ENST00000529526.1:c.95A>G
NR_037646.1:n.816A>G
ENSP00000351527.6:p.Asn86Ser
ENSP00000354823.4:p.Asn86Ser
ENSP00000382004.4:p.Asn86Ser
ENSP00000433334.1:p.Asn32Ser
ENSP00000435494.1:p.Asn32Ser
ENSP00000413586.2:p.Asn86Ser
ENSP00000435379.1:p.Asn32Ser
ENSP00000432243.1:p.Asn32Ser
ENSP00000436744.1:p.Asn32Ser
ENSP00000433276.1:p.Asn32Ser
ENSP00000354785.6:p.Asn86Ser
ENSP00000354907.4:p.Asn86Ser
ENSP00000436323.1:p.Asn32Ser
17/9594 0.00089 5 non_synonymous Benign
View 11 61724453 61724453 C > A BEST1 BEST1 NM_001139443.1:c.439C>A
NM_004183.3:c.619C>A
NP_001132915.1:p.Leu147Ile
NP_004174.1:p.Leu207Ile
81/9594 0.00433 5 Benign
View 11 66287196 66287196 G > A BBS1 NM_024649.4:c.700G>A
NP_078925.3:p.Glu234Lys
190/9594 0.01027 5 Benign
View 11 67807143 67807144 - > C TCIRG1 ENST00000265686.3:c.-5+560dupC
1006/4835 0.20776 5 ClinVar Benign variant Benign
View 11 67813930 67813930 A > G TCIRG1 TCIRG1 ENST00000265686.3:c.1166-970A>G
ENST00000532635.1:c.518-970A>G
1012/11386 0.07891 5 ClinVar Benign variant Benign
View 11 67814979 67814979 G > C TCIRG1 TCIRG1 ENST00000265686.3:c.1245G>C
ENST00000532635.1:c.597G>C
ENSP00000265686.3:p.Leu415=
ENSP00000434407.1:p.Leu199=
11123/11422 0.96599 5 ClinVar Benign variant 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
142/11422 0.00643 5 Common ExAC MAF original cat: TYPE_3 - in_frame_indel Benign
View 11 67926515 67926515 T > C KMT5B ENST00000304363.4:c.1298A>G
ENSP00000305899.4:p.Asn433Ser
21/9594 0.00109 5 non_synonymous Benign
View 11 70821059 70821059 G > A SHANK2 NM_012309.3:c.520C>T
NP_036441.2:p.Arg174Cys
127/9594 0.00678 5 Benign
View 11 70858151 70858151 G > A SHANK2 NM_012309.3:c.207+15C>T
41/9555 0.00215 5 five_prime_intronic Benign
View 11 73753271 73753272 - > A C2CD3 NM_015531.4:c.5496-6dupT
21/9594 0.00109 5 polypyrimidine_tract Benign
View 11 76868309 76868310 - > TGCCCACATTTT MYO7A MYO7A MYO7A NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT
NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT
120/11383 0.00536 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 11 76925733 76925733 G > A MYO7A MYO7A NM_000260.3:c.6640G>A
NM_001127180.1:c.6520G>A
NP_000251.3:p.Gly2214Ser
NP_001120652.1:p.Gly2174Ser
112/11422 0.00512 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
60/11422 0.00267 5 Benign
View 11 108121413 108121413 T > - ATM ENST00000278616.4:c.1236-3del
246/11384 0.0108 5 polypyrimidine_tract Benign
View 11 108121733 108121733 G > A ATM ENST00000278616.4:c.1541G>A
ENSP00000278616.4:p.Gly514Asp
130/11422 0.00573 5 Benign
View 11 108122592 108122592 C > G ATM ENST00000278616.4:c.1636C>G
ENSP00000278616.4:p.Leu546Val
78/11422 0.0035 5 Benign
View 11 108138045 108138045 C > T ATM ENST00000278616.4:c.2614C>T
ENSP00000278616.4:p.Pro872Ser
68/11422 0.00302 5 Benign
View 11 108141958 108141959 - > T ATM ENST00000278616.4:c.2922-8dupT
56/11383 0.0025 5 three_prime_flank Benign
View 11 108151707 108151708 - > T ATM ENST00000278616.4:c.3403-15dupT
26/11383 0.00119 5 polypyrimidine_tract Benign
View 11 108159732 108159732 C > T ATM ENST00000278616.4:c.4138C>T
ENSP00000278616.4:p.His1380Tyr
182/11422 0.00801 5 Benign
View 11 111897031 111897032 - > T DLAT NM_001931.4:c.381+22dupT
10/9594 0.00052 5 five_prime_intronic Benign
View 11 113857661 113857661 G > A HTR3A HTR3A HTR3A HTR3A NM_000869.5:c.1049G>A
NM_213621.3:c.1145G>A
NR_046363.1:n.1121G>A
NM_001161772.2:c.986G>A
NP_000860.2:p.Arg350His
NP_998786.2:p.Arg382His
NP_001155244.1:p.Arg329His
172/9594 0.00912 5 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
11/9594 0.00063 5 non_synonymous Benign
View 11 118343378 118343378 G > A KMT2A KMT2A NM_001197104.1:c.1504G>A
NM_005933.3:c.1504G>A
NP_001184033.1:p.Glu502Lys
NP_005924.2:p.Glu502Lys
107/9594 0.00558 5 non_synonymous Benign
View 11 118373179 118373179 G > A KMT2A KMT2A NM_001197104.1:c.6572G>A
NM_005933.3:c.6563G>A
NP_001184033.1:p.Arg2191Gln
NP_005924.2:p.Arg2188Gln
29/9594 0.00151 5 non_synonymous Benign
View 11 119145667 119145667 A > G CBL NM_005188.3:c.869+4A>G
112/9594 0.00594 5 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Benign
Displaying 100 through 150 of 1,030 variants