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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 70645376 70645376 A > C STOX1 STOX1 STOX1 STOX1 STOX1 NM_001130162.2:c.1494A>C
NM_001130160.2:c.463+3510A>C
NM_152709.4:c.1824A>C
NM_001130161.2:c.1824A>C
NM_001130159.2:c.663+1161A>C
NP_001123634.1:p.Glu498Asp
NP_689922.3:p.Glu608Asp
NP_001123633.1:p.Glu608Asp
4749/13145 0.20396 5 Benign
View 10 71662507 71662507 G > A COL13A1 COL13A1 COL13A1 COL13A1 COL13A1 COL13A1 NM_080800.3:c.727G>A
NM_080801.3:c.718G>A
NM_080802.3:c.718G>A
NM_080798.3:c.613G>A
NM_001130103.1:c.784G>A
NM_080805.3:c.631G>A
NP_542990.3:p.Glu243Lys
NP_542991.3:p.Glu240Lys
NP_542992.3:p.Glu240Lys
NP_542988.3:p.Glu205Lys
NP_001123575.1:p.Glu262Lys
NP_542995.3:p.Glu211Lys
207/13106 0.0079 5 Benign
View 10 72360648 72360648 C > T PRF1 PRF1 NM_001083116.1:c.11G>A
NM_005041.4:c.11G>A
NP_001076585.1:p.Arg4His
NP_005032.2:p.Arg4His
181/14969 0.00615 5 curation Benign
View 10 73406348 73406348 G > A CDH23 CDH23 CDH23 CDH23 NM_001171931.1:c.1423G>A
NM_022124.5:c.1423G>A
NM_001171930.1:c.1423G>A
NM_052836.3:c.1423G>A
NP_001165402.1:p.Val475Met
NP_071407.4:p.Val475Met
NP_001165401.1:p.Val475Met
NP_443068.1:p.Val475Met
128/14969 0.00438 5 curation Benign
View 10 73476019 73476019 G > A C10orf105 C10orf105 CDH23 CDH23 NM_001164375.2:c.76C>T
NM_001168390.1:c.76C>T
NM_022124.5:c.3369+3449G>A
NM_001171930.1:c.3369+3449G>A
NP_001157847.1:p.Pro26Ser
NP_001161862.1:p.Pro26Ser
104/14930 0.00348 5 curation Benign
View 10 73537449 73537449 G > A CDH23 NM_022124.5:c.4858G>A
NP_071407.4:p.Val1620Met
368/14969 0.01263 5 Benign
View 10 76735749 76735749 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.1117+537A>G
NM_012330.3:c.1654A>G
NM_001256468.1:c.1444+210A>G
NP_036462.2:p.Thr552Ala
6/13144 0.00027 5 curation Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.2376_2387del
NM_012330.3:c.3252_3263del
NM_001256468.1:c.2703_2714del
NP_001243398.1:p.Glu794_Glu797del
NP_036462.2:p.Glu1086_Glu1089del
NP_001243397.1:p.Glu903_Glu906del
228/13144 0.00867 5 curation Benign
View 10 76788267 76788267 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.2809A>G
NM_012330.3:c.3685A>G
NM_001256468.1:c.3136A>G
NP_001243398.1:p.Ser937Gly
NP_036462.2:p.Ser1229Gly
NP_001243397.1:p.Ser1046Gly
1/13144 4.0e-05 5 curation Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229del
NM_012330.3:c.4097_4105del
NM_001256468.1:c.3548_3556del
NP_001243398.1:p.Glu1074_Glu1076del
NP_036462.2:p.Glu1366_Glu1368del
NP_001243397.1:p.Glu1183_Glu1185del
275/13145 0.0105 5 curation Benign
View 10 82034261 82034261 C > T MAT1A NM_000429.2:c.1085+15G>A
107/11958 0.00456 5 curation Benign
View 10 86007496 86007496 C > T RGR RGR RGR NM_002921.3:c.229C>T
NM_001012722.1:c.229C>T
NM_001012720.1:c.229C>T
NP_002912.2:p.Leu77Phe
NP_001012740.1:p.Leu77Phe
NP_001012738.1:p.Leu77Phe
11/13144 0.00042 5 non_synonymous Benign
View 10 89621800 89621800 A > T KLLN NM_001126049.1:c.445T>A
NP_001119521.1:p.Trp149Arg
112/13144 0.00426 5 curation Benign
View 10 89621853 89621853 T > C KLLN NM_001126049.1:c.392A>G
NP_001119521.1:p.Asn131Ser
112/13144 0.00426 5 curation Benign
View 10 89621863 89621863 G > C KLLN NM_001126049.1:c.382C>G
NP_001119521.1:p.Arg128Gly
93/13144 0.00354 5 curation Benign
View 10 89720634 89720635 - > T PTEN NM_000314.4:c.802-3dupT
648/12733 0.02639 5 curation Benign
View 10 89720635 89720636 - > T PTEN NM_000314.4:c.802-3dupT
475/12696 0.01922 5 curation Benign
View 10 89720636 89720637 - > T PTEN NM_000314.4:c.802-3dupT
137/12654 0.00553 5 curation Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
125/13144 0.00479 5 curation Benign
View 10 95518462 95518462 T > C LGI1 ENST00000371418.4:c.216-55T>C
198/11964 0.00836 5 curation Benign
View 10 102732739 102732739 C > T SEMA4G SEMA4G NM_001203244.1:c.70C>T
NM_017893.3:c.70C>T
NP_001190173.1:p.Arg24Trp
NP_060363.2:p.Arg24Trp
15/13144 0.00057 5 curation Benign
View 10 103825629 103825629 C > T HPS6 NM_024747.5:c.398C>T
NP_079023.2:p.Ala133Val
47/13144 0.00179 5 curation Benign
View 10 103825929 103825929 T > G HPS6 NM_024747.5:c.698T>G
NP_079023.2:p.Leu233Arg
211/13144 0.00806 5 curation Benign
View 10 112333446 112333446 A > G SMC3 NM_005445.3:c.92-19A>G
51/11949 0.00218 5 three_prime_flank Benign
View 10 112360319 112360319 T > - SMC3 NM_005445.3:c.2535+28del
23/11951 0.00096 5 curation Benign
View 10 112583294 112583294 G > A RBM20 NM_001134363.1:c.3373G>A
NP_001127835.1:p.Glu1125Lys
97/13144 0.00377 5 non_synonymous Benign
View 10 112771351 112771352 - > T SHOC2 SHOC2 NM_001269039.1:c.1403-7dupT
NM_007373.3:c.1541-7dupT
31/11944 0.0013 5 curation Benign
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
31/13144 0.00118 5 curation 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
899/13144 0.03853 5 curation Benign
View 10 131760506 131760506 G > A EBF3 NM_001005463.2:c.356-16C>T
19/11947 0.0008 5 curation Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
97/13144 0.00373 5 curation Benign
View 11 1271906 1271906 C > T MUC5B NM_002458.2:c.13796C>T
NP_002449.2:p.Thr4599Met
149/13105 0.00588 5 curation Benign
View 11 2869188 2869188 C > T KCNQ1 KCNQ1 NM_000218.2:c.1986C>T
NR_040711.2:n.1879C>T
NP_000209.2:p.Tyr662=
4794/13146 0.20736 5 Benign
View 11 2930593 2930593 C > - SLC22A18 SLC22A18 NM_183233.2:c.403+8del
NM_002555.5:c.403+8del
26/11986 0.00113 5 curation Benign
View 11 5248243 5248243 A > G HBB NM_000518.4:c.9T>C
NP_000509.1:p.His3=
14040/14969 0.79284 5 curation 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
129/14969 0.00441 5 curation 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
105/14969 0.00361 5 curation Benign
View 11 6636668 6636668 C > T TPP1 NM_000391.3:c.1266+5G>A
181/13827 0.00669 5 curation Benign
View 11 6638938 6638938 T > C TPP1 NM_000391.3:c.299A>G
NP_000382.3:p.Gln100Arg
105/14969 0.00357 5 curation Benign
View 11 6648332 6648332 T > A DCHS1 ENST00000299441.3:c.5938A>T
ENSP00000299441.3:p.Thr1980Ser
120/13144 0.0046 5 curation Benign
View 11 7060977 7060977 A > T NLRP14 NM_176822.3:c.322A>T
NP_789792.1:p.Lys108Ter
162/13144 0.00628 1 Benign
View 11 9871781 9871784 GATT > - SBF2 NM_030962.3:c.2611-19_2611-16del
184/11966 0.00802 5 curation 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
28/13144 0.00107 5 curation Benign
View 11 17531057 17531057 C > A USH1C USH1C NM_153676.3:c.1859G>T
NM_005709.3:c.1285-7530G>T
NP_710142.1:p.Arg620Leu
86/14969 0.00291 5 Benign
View 11 17663382 17663382 C > A OTOG NM_001277269.1:c.8227-12C>A
114/11955 0.00485 5 curation 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
83/13144 0.00323 5 curation Benign
View 11 26463582 26463582 C > T ANO3 NM_031418.2:c.164C>T
NP_113606.2:p.Ser55Phe
172/13144 0.00662 5 curation 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
68/14969 0.00227 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
209/14969 0.00725 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
94/13144 0.00361 5 curation Benign
Displaying 100 through 150 of 1,342 variants