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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 120491644 120491644 G > A NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.2585C>T
NM_024408.3:c.2585C>T
NP_001186930.1:p.Ala862Val
NP_077719.2:p.Ala862Val
21/13144 0.0008 5 curation Benign
View 1 120548095 120548095 C > A NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.272G>T
NM_024408.3:c.272G>T
NP_001186930.1:p.Arg91Leu
NP_077719.2:p.Arg91Leu
244/13144 0.00943 5 Benign
View 1 120572547 120572547 T > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.137A>G
NM_024408.3:c.137A>G
NP_001186930.1:p.Asn46Ser
NP_077719.2:p.Asn46Ser
7751/13144 0.29527 5 curation Benign
View 1 120572572 120572572 C > T NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.112G>A
NM_024408.3:c.112G>A
NP_001186930.1:p.Glu38Lys
NP_077719.2:p.Glu38Lys
7840/13144 0.29865 5 curation Benign
View 1 120611964 120611964 G > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.57C>G
NM_024408.3:c.57C>G
NP_001186930.1:p.Cys19Trp
NP_077719.2:p.Cys19Trp
10863/13154 0.4139 5 curation Benign
View 1 151381322 151381322 A > - POGZ POGZ POGZ POGZ POGZ NM_207171.2:c.1768-17del
NM_001194937.1:c.1900-17del
NM_001194938.1:c.1741-17del
NM_015100.3:c.1927-17del
NM_145796.3:c.1642-17del
67/11959 0.00493 5 curation Benign
View 1 152280325 152280325 A > G FLG NM_002016.1:c.7037T>C
NP_002007.1:p.Ile2346Thr
100/13105 0.00397 5 curation Benign
View 1 155210498 155210498 T > C GBA GBA GBA GBA GBA NM_001171812.1:c.38A>G
NM_001171811.1:c.-146-630A>G
NM_001005741.2:c.38A>G
NM_001005742.2:c.38A>G
NM_000157.3:c.38A>G
NP_001165283.1:p.Lys13Arg
NP_001005741.1:p.Lys13Arg
NP_001005742.1:p.Lys13Arg
NP_000148.2:p.Lys13Arg
221/14969 0.00762 5 curation Benign
View 1 155319323 155319323 G > T ASH1L NM_018489.2:c.7421+10C>A
126/11997 0.00529 5 five_prime_intronic Benign
View 1 155348199 155348199 A > G ASH1L NM_018489.2:c.6224-19T>C
183/11968 0.00773 5 three_prime_flank Benign
View 1 155408644 155408644 G > A ASH1L NM_018489.2:c.5302C>T
NP_060959.2:p.Pro1768Ser
47/13144 0.00179 5 curation Benign
View 1 156105961 156105961 C > T LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.822-44C>T
NM_005572.3:c.1158-44C>T
NR_047544.1:n.1799-44C>T
NR_047545.1:n.1046-44C>T
NM_170707.3:c.1158-44C>T
NM_170708.3:c.1158-44C>T
166/12661 0.0066 4 curation Benign
View 1 156838432 156838432 C > T NTRK1 NTRK1 NTRK1 NM_001007792.1:c.620C>T
NM_002529.3:c.710C>T
NM_001012331.1:c.710C>T
NP_001007793.1:p.Thr207Met
NP_002520.2:p.Thr237Met
NP_001012331.1:p.Thr237Met
161/14969 0.00544 5 curation Benign
View 1 162741795 162741795 G > A DDR2 DDR2 NM_001014796.1:c.1505-19G>A
NM_006182.2:c.1505-19G>A
176/11964 0.0074 5 curation Benign
View 1 173797448 173797449 - > T DARS2 NM_018122.4:c.228-20dupT
68/11948 0.00285 5 curation Benign
View 1 196684855 196684855 T > C CFH NM_000186.3:c.1652T>C
NP_000177.2:p.Ile551Thr
124/13144 0.00483 5 Benign
View 1 196712624 196712624 T > C CFH NM_000186.3:c.3176T>C
NP_000177.2:p.Ile1059Thr
165/13144 0.00658 5 Benign
View 1 196715063 196715063 C > G CFH NM_000186.3:c.3427C>G
NP_000177.2:p.Gln1143Glu
235/13144 0.00955 5 Benign
View 1 196965193 196965193 G > A CFHR5 NM_030787.3:c.832G>A
NP_110414.1:p.Gly278Ser
221/13144 0.00844 5 curation Benign
View 1 197072560 197072560 A > G ASPM ASPM NM_001206846.1:c.4066-7266T>C
NM_018136.4:c.5821T>C
NP_060606.3:p.Cys1941Arg
102/13144 0.00388 5 curation Benign
View 1 197072802 197072802 G > A ASPM ASPM NM_001206846.1:c.4066-7508C>T
NM_018136.4:c.5579C>T
NP_060606.3:p.Ala1860Val
101/13144 0.00384 5 curation Benign
View 1 197073318 197073318 G > A ASPM ASPM NM_001206846.1:c.4066-8024C>T
NM_018136.4:c.5063C>T
NP_060606.3:p.Thr1688Ile
102/13144 0.00388 5 curation Benign
View 1 197112094 197112094 T > C ASPM ASPM NM_001206846.1:c.1288A>G
NM_018136.4:c.1288A>G
NP_001193775.1:p.Arg430Gly
NP_060606.3:p.Arg430Gly
93/13144 0.00354 5 curation Benign
View 1 215802247 215802247 C > T USH2A ENST00000307340.3:c.15428G>A
ENSP00000305941.3:p.Arg5143His
166/14969 0.00568 5 curation Benign
View 1 215802298 215802298 A > G USH2A ENST00000307340.3:c.15377T>C
ENSP00000305941.3:p.Ile5126Thr
205/14969 0.00705 5 curation Benign
View 1 215844373 215844373 C > T USH2A ENST00000307340.3:c.14074G>A
ENSP00000305941.3:p.Gly4692Arg
139/14969 0.00464 5 curation Benign
View 1 215848808 215848808 A > G USH2A ENST00000307340.3:c.12445T>C
ENSP00000305941.3:p.Trp4149Arg
88/14969 0.00294 5 curation Benign
View 1 216051125 216051125 G > A USH2A ENST00000307340.3:c.8656C>T
ENSP00000305941.3:p.Leu2886Phe
1424/14969 0.0498 5 curation Benign
View 1 216166454 216166454 T > G USH2A ENST00000307340.3:c.6713A>C
ENSP00000305941.3:p.Glu2238Ala
674/14969 0.02285 5 curation Benign
View 1 216172299 216172299 C > G USH2A ENST00000307340.3:c.6587G>C
ENSP00000305941.3:p.Ser2196Thr
345/14969 0.01202 5 curation Benign
View 1 216500928 216500928 C > G USH2A USH2A ENST00000366942.3:c.848+5G>C
ENST00000307340.3:c.848+5G>C
95/13817 0.00344 5 Benign
View 1 218520315 218520315 G > A TGFB2 TGFB2 NM_001135599.2:c.272G>A
NM_003238.3:c.272G>A
NP_001129071.1:p.Arg91His
NP_003229.1:p.Arg91His
113/13144 0.00434 5 curation Benign
View 1 220369746 220369747 AA > - RAB3GAP2 NM_012414.3:c.812-7_812-6del
72/13811 0.00264 5 curation Benign
View 1 235659624 235659625 - > A B3GALNT2 B3GALNT2 NM_001277155.1:c.113-4dupT
NM_152490.3:c.113-1484dupT
15/11983 0.00063 5 curation Benign
View 1 235909815 235909815 A > T LYST NM_000081.3:c.7793T>A
NP_000072.2:p.Phe2598Tyr
192/14969 0.00671 5 curation Benign
View 1 235926164 235926164 T > - LYST NM_000081.3:c.6122-13del
194/13787 0.00736 5 curation Benign
View 1 236914923 236914923 A > G ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.1810A>G
NM_001278344.1:c.1186A>G
ENST00000366578.4:c.1810A>G
ENSP00000443495.1:p.Met604Val
NP_001265273.1:p.Met396Val
ENSP00000355537.4:p.Met604Val
154/13144 0.00601 5 curation Benign
View 1 237995837 237995837 C > G RYR2 NM_001035.2:c.14809-15C>G
201/11955 0.00841 5 curation Benign
View 1 240256187 240256187 G > A FMN2 NM_020066.4:c.778G>A
NP_064450.3:p.Ala260Thr
81/13144 0.00316 5 curation Benign
View 1 247587771 247587771 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.1026C>T
ENST00000391827.2:c.1026C>T
ENST00000336119.3:c.1026C>T
ENST00000391828.3:c.1026C>T
ENST00000348069.2:c.1026C>T
ENSP00000355453.2:p.Pro342=
ENSP00000375703.2:p.Pro342=
ENSP00000337383.3:p.Pro342=
ENSP00000375704.3:p.Pro342=
ENSP00000294752.3:p.Pro342=
149/13144 0.00567 5 curation Benign
View 1 247592912 247592912 A > G NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.2182A>G
ENST00000391827.2:c.2156+4011A>G
ENST00000336119.3:c.2182A>G
ENST00000391828.3:c.2182A>G
ENST00000348069.2:c.2156+4011A>G
ENSP00000355453.2:p.Ser728Gly
ENSP00000337383.3:p.Ser728Gly
ENSP00000375704.3:p.Ser728Gly
23/13144 0.00087 5 curation Benign
View 1 247608148 247608148 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.2840+25C>T
ENST00000391827.2:c.2840+25C>T
ENST00000336119.3:c.3011+25C>T
ENST00000391828.3:c.3011+25C>T
ENST00000348069.2:c.2669+25C>T
232/11963 0.00986 4 curation Benign
View 10 16957036 16957036 A > G CUBN NM_001081.3:c.7346T>C
NP_001072.2:p.Met2449Thr
56/13144 0.00213 5 curation Benign
View 10 18439808 18439809 - > TTTTTG CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 NM_201572.3:c.37-3_37-2insTTTTGT
NM_201596.2:c.121-3_121-2insTTTTGT
NM_201571.3:c.37-3_37-2insTTTTGT
NM_201593.2:c.121-3_121-2insTTTTGT
NM_001167945.1:c.37-3_37-2insTTTTGT
NM_201597.2:c.121-3_121-2insTTTTGT
131/12190 0.00541 5 polypyrimidine_tract Benign
View 10 28274148 28274148 A > - ARMC4 NM_018076.2:c.383-6del
281/12016 0.01215 5 Benign
View 10 31750140 31750140 A > C ZEB1 ZEB1 ZEB1 ZEB1 ZEB1 ZEB1 NM_001174093.1:c.233A>C
NM_030751.5:c.233A>C
NM_001174094.1:c.182A>C
NM_001128128.2:c.182A>C
NM_001174095.1:c.59-34568A>C
NM_001174096.1:c.233A>C
NP_001167564.1:p.Asn78Thr
NP_110378.3:p.Asn78Thr
NP_001167565.1:p.Asn61Thr
NP_001121600.1:p.Asn61Thr
NP_001167567.1:p.Asn78Thr
133/13144 0.00514 5 Benign
View 10 43601830 43601830 G > A RET RET ENST00000340058.5:c.874G>A
ENST00000355710.3:c.874G>A
ENSP00000344798.4:p.Val292Met
ENSP00000347942.3:p.Val292Met
12/13144 0.00049 5 curation Benign
View 10 43606650 43606650 C > T RET RET ENST00000340058.5:c.1264-5C>T
ENST00000355710.3:c.1264-5C>T
263/12018 0.01123 5 curation Benign
View 10 43609994 43609994 C > T RET RET ENST00000340058.5:c.1946C>T
ENST00000355710.3:c.1946C>T
ENSP00000344798.4:p.Ser649Leu
ENSP00000347942.3:p.Ser649Leu
15/13144 0.00057 5 curation Benign
View 10 55581883 55581885 GTT > - PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.5622_5624del
NM_001142773.1:c.5532_5534del
NM_001142765.1:c.5394_5396del
NM_001142764.1:c.5607_5609del
NM_033056.3:c.5601_5603del
NM_001142767.1:c.5481_5483del
NM_001142766.1:c.5592_5594del
NM_001142769.1:c.4409+3011_4409+3013del
NM_001142768.1:c.5541_5543del
NM_001142770.1:c.4373+3011_4373+3013del
NM_001142772.1:c.4373+3011_4373+3013del
NM_001142771.1:c.4388+3011_4388+3013del
NP_001136235.1:p.Thr1876del
NP_001136245.1:p.Thr1846del
NP_001136237.1:p.Thr1800del
NP_001136236.1:p.Thr1871del
NP_149045.3:p.Thr1869del
NP_001136239.1:p.Thr1829del
NP_001136238.1:p.Thr1866del
NP_001136240.1:p.Thr1849del
230/13144 0.00905 5 curation Benign
Displaying 50 through 100 of 1,342 variants