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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 109465090 109465090 C > T TRNAN-GUU GPSM2 NM_013296.4:c.1492C>T
NP_037428.3:p.Arg498Ter
8/13144 0.0003 1 Pathogenic
View 1 152280023 152280023 G > A FLG NM_002016.1:c.7339C>T
NP_002007.1:p.Arg2447Ter
101/13106 0.00385 1 Pathogenic
View 1 153790590 153790590 G > A GATAD2B NM_020699.2:c.655C>T
NP_065750.1:p.Gln219Ter
1/13144 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 154145448 154145448 G > A TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 NR_103461.1:n.521C>T
NM_001278188.1:c.193C>T
NM_001043353.1:c.391C>T
NM_001278189.1:c.391C>T
NM_001043352.1:c.391C>T
NM_153649.3:c.391C>T
NM_001043351.1:c.391C>T
NM_001278191.1:c.121C>T
NM_152263.3:c.502C>T
NM_001278190.1:c.391C>T
NP_001265117.1:p.Arg65Cys
NP_001036818.1:p.Arg131Cys
NP_001265118.1:p.Arg131Cys
NP_001036817.1:p.Arg131Cys
NP_705935.1:p.Arg131Cys
NP_001036816.1:p.Arg131Cys
NP_001265120.1:p.Arg41Cys
NP_689476.2:p.Arg168Cys
NP_001265119.1:p.Arg131Cys
2/13144 8.0e-05 1 Pathogenic
View 1 154560601 154560601 C > T ADAR ADAR ADAR ADAR ENST00000529168.1:c.2926G>A
NM_001025107.2:c.2134G>A
ENST00000368474.4:c.3019G>A
NM_001193495.1:c.2134G>A
ENSP00000431794.1:p.Gly976Arg
NP_001020278.1:p.Gly712Arg
ENSP00000357459.4:p.Gly1007Arg
NP_001180424.1:p.Gly712Arg
1/13144 4.0e-05 1 Pathogenic
View 1 154574541 154574541 G > C ADAR ADAR ADAR ADAR ENST00000529168.1:c.562C>G
NM_001025107.2:c.-309C>G
ENST00000368474.4:c.577C>G
NM_001193495.1:c.-309C>G
ENSP00000431794.1:p.Pro188Ala
ENSP00000357459.4:p.Pro193Ala
81/13144 0.00308 1 Pathogenic
View 1 155207244 155207244 C > T GBA GBA GBA GBA GBA NM_001171812.1:c.740G>A
NM_001171811.1:c.626G>A
NM_001005741.2:c.887G>A
NM_001005742.2:c.887G>A
NM_000157.3:c.887G>A
NP_001165283.1:p.Arg247Gln
NP_001165282.1:p.Arg209Gln
NP_001005741.1:p.Arg296Gln
NP_001005742.1:p.Arg296Gln
NP_000148.2:p.Arg296Gln
2/14969 7.0e-05 1 Pathogenic
View 1 155208006 155208006 T > C GBA GBA GBA GBA GBA NM_001171812.1:c.533A>G
NM_001171811.1:c.419A>G
NM_001005741.2:c.680A>G
NM_001005742.2:c.680A>G
NM_000157.3:c.680A>G
NP_001165283.1:p.Asn178Ser
NP_001165282.1:p.Asn140Ser
NP_001005741.1:p.Asn227Ser
NP_001005742.1:p.Asn227Ser
NP_000148.2:p.Asn227Ser
2/14969 7.0e-05 1 Pathogenic
View 1 155210420 155210420 C > T GBA GBA GBA GBA GBA NM_001171812.1:c.115+1G>A
NM_001171811.1:c.-146-552G>A
NM_001005741.2:c.115+1G>A
NM_001005742.2:c.115+1G>A
NM_000157.3:c.115+1G>A
2/13810 7.0e-05 1 Pathogenic
View 1 155261636 155261636 C > T PKLR PKLR NM_181871.3:c.1436G>A
NM_000298.5:c.1529G>A
NP_870986.1:p.Arg479Gln
NP_000289.1:p.Arg510Gln
34/14969 0.00114 1 Pathogenic
View 1 155874285 155874285 A > C RIT1 RIT1 RIT1 NM_006912.5:c.246T>G
NM_001256820.1:c.138T>G
NM_001256821.1:c.297T>G
NP_008843.1:p.Phe82Leu
NP_001243749.1:p.Phe46Leu
NP_001243750.1:p.Phe99Leu
2/13144 8.0e-05 1 Pathogenic
View 1 156106776 156106776 G > A LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.1109G>A
NM_005572.3:c.1445G>A
NR_047544.1:n.2086G>A
NR_047545.1:n.1333G>A
NM_170707.3:c.1445G>A
NM_170708.3:c.1445G>A
NP_001244303.1:p.Arg370Gln
NP_005563.1:p.Arg482Gln
NP_733821.1:p.Arg482Gln
NP_733822.1:p.Arg482Gln
1/13843 4.0e-05 1 Pathogenic
View 1 160012247 160012247 G > A KCNJ10 NM_002241.4:c.76C>T
NP_002232.2:p.Arg26Ter
2/13144 0.00011 2 premature_stop Pathogenic
View 1 169519049 169519049 T > C F5 ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg
12661/13152 0.93997 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Pathogenic
View 1 172411702 172411702 G > A C1orf105 PIGC PIGC NM_139240.3:c.22-2511G>A
NM_002642.3:c.61C>T
NM_153747.1:c.61C>T
NP_002633.1:p.Arg21Ter
NP_714969.1:p.Arg21Ter
6/13105 0.00023 1 Pathogenic
View 1 197059425 197059425 G > A ASPM ASPM NM_001206846.1:c.4975C>T
NM_018136.4:c.9730C>T
NP_001193775.1:p.Arg1659Ter
NP_060606.3:p.Arg3244Ter
3/13144 0.00011 1 Pathogenic
View 1 197070520 197070521 TC > - ASPM ASPM NM_001206846.1:c.4066-5227_4066-5226del
NM_018136.4:c.7860_7861del
NP_060606.3:p.Gln2620HisfsTer16
2/13144 8.0e-05 1 Pathogenic
View 1 197071813 197071813 G > A ASPM ASPM NM_001206846.1:c.4066-6519C>T
NM_018136.4:c.6568C>T
NP_060606.3:p.Gln2190Ter
4/13144 0.00015 1 Pathogenic
View 1 197073821 197073821 G > - ASPM ASPM NM_001206846.1:c.4066-8527del
NM_018136.4:c.4560del
NP_060606.3:p.Tyr1521ThrfsTer5
1/13144 4.0e-05 1 curation Pathogenic
View 1 197411405 197411405 G > - CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 ENST00000367400.3:c.3988del
ENST00000538660.1:c.2380del
ENST00000535699.1:c.3916del
NR_047563.1:n.3989del
ENST00000367399.2:c.3652del
NR_047564.1:n.4197del
ENSP00000356370.3:p.Glu1330SerfsTer11
ENSP00000438091.1:p.Glu794SerfsTer11
ENSP00000438786.1:p.Glu1306SerfsTer11
ENSP00000356369.2:p.Glu1218SerfsTer11
2/13144 8.0e-05 1 Pathogenic
View 1 209961939 209961948 GAAATCACCA > - IRF6 IRF6 NM_001206696.1:c.936_945del
NM_006147.3:c.1221_1230del
NP_001193625.1:p.Gly313HisfsTer26
NP_006138.1:p.Gly408HisfsTer26
1/13144 4.0e-05 1 curation Pathogenic
View 1 209974734 209974734 G > A IRF6 IRF6 NM_001206696.1:c.-112+4558C>T
NM_006147.3:c.25C>T
NP_006138.1:p.Arg9Trp
1/13144 4.0e-05 1 Pathogenic
View 1 216497582 216497582 C > A USH2A USH2A ENST00000366942.3:c.1256G>T
ENST00000307340.3:c.1256G>T
ENSP00000355909.3:p.Cys419Phe
ENSP00000305941.3:p.Cys419Phe
9/14969 0.0003 1 Pathogenic
View 1 227172357 227172357 G > A COQ8A NM_020247.4:c.1506+1G>A
2/13810 7.0e-05 1 Pathogenic
View 1 231124186 231124187 - > T ARV1 NM_022786.1:c.294+2dupT
2/11983 8.0e-05 1 curation Pathogenic
View 1 235564868 235564879 GGGAGCCACGAA > - TBCE TBCE NM_001079515.1:c.155_166del
NM_003193.3:c.155_166del
NP_001072983.1:p.Ser52_Gly55del
NP_003184.1:p.Ser52_Gly55del
2/14969 0.00013 1 Pathogenic
View 1 235840427 235840427 C > A LYST NM_000081.3:c.11002G>T
NP_000072.2:p.Glu3668Ter
4/14969 0.00013 1 Pathogenic
View 1 244218246 244218246 C > - ZBTB18 ZBTB18 ZBTB18 NM_205768.2:c.1174del
NM_001278196.1:c.1147del
NM_006352.4:c.1147del
NP_991331.1:p.His392ThrfsTer7
NP_001265125.1:p.His383ThrfsTer7
NP_006343.2:p.His383ThrfsTer7
1/13144 4.0e-05 2 frameshift Pathogenic
View 1 245026981 245026982 - > C HNRNPU HNRNPU NM_031844.2:c.628dupG
NM_004501.3:c.628dupG
NP_114032.2:p.Ala210GlyfsTer4
NP_004492.2:p.Ala210GlyfsTer14
1/13144 4.0e-05 1 curation Pathogenic
View 10 14987109 14987109 G > A DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_022487.2:c.-49C>T
NM_001033855.1:c.241C>T
NM_001033857.1:c.-120C>T
NM_001033858.1:c.-442C>T
NP_001029027.1:p.Arg81Ter
1/14969 7.0e-05 1 Pathogenic
View 10 43617416 43617416 T > C RET RET ENST00000340058.5:c.2753T>C
ENST00000355710.3:c.2753T>C
ENSP00000344798.4:p.Met918Thr
ENSP00000347942.3:p.Met918Thr
2/13144 8.0e-05 1 Pathogenic
View 10 50678470 50678470 T > - ERCC6 NM_000124.3:c.3536del
NP_000115.1:p.Tyr1179LeufsTer22
2/14969 7.0e-05 1 Pathogenic
View 10 50691550 50691550 G > A ERCC6 NM_000124.3:c.1834C>T
NP_000115.1:p.Arg612Ter
2/14969 7.0e-05 1 Pathogenic
View 10 50713929 50713929 C > A ERCC6 NM_000124.3:c.1526+1G>T
6/13810 0.00025 1 Pathogenic
View 10 50738843 50738843 G > A ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 NM_001277059.1:c.466C>T
NM_001277058.1:c.466C>T
NM_000124.3:c.466C>T
NP_001263988.1:p.Gln156Ter
NP_001263987.1:p.Gln156Ter
NP_000115.1:p.Gln156Ter
2/14969 7.0e-05 1 Pathogenic
View 10 72360387 72360387 G > A PRF1 PRF1 NM_001083116.1:c.272C>T
NM_005041.4:c.272C>T
NP_001076585.1:p.Ala91Val
NP_005032.2:p.Ala91Val
1117/14969 0.03835 1 curation Pathogenic
View 10 73082812 73082812 G > A SLC29A3 SLC29A3 SLC29A3 SLC29A3 NM_001174098.1:c.300+1G>A
NM_018344.5:c.300+1G>A
NR_033414.1:n.357+1G>A
NR_033413.1:n.357+1G>A
3/11983 0.00017 1 Pathogenic
View 10 73466716 73466716 G > A CDH23 CDH23 CDH23 NM_001171931.1:c.3016G>A
NM_022124.5:c.3016G>A
NM_001171930.1:c.3016G>A
NP_001165402.1:p.Glu1006Lys
NP_071407.4:p.Glu1006Lys
NP_001165401.1:p.Glu1006Lys
2/14969 7.0e-05 2 Pathogenic
View 10 73500641 73500641 C > - CDH23 NM_022124.5:c.4552del
NP_071407.4:p.Leu1518TrpfsTer20
3/14969 0.00013 2 frameshift Pathogenic
View 10 79753125 79753125 G > A POLR3A NM_007055.3:c.2617C>T
NP_008986.2:p.Arg873Ter
5/13144 0.00019 1 curation Pathogenic
View 10 79769273 79769273 C > T POLR3A NM_007055.3:c.1909+22G>A
57/11948 0.00239 1 curation Pathogenic
View 10 79769277 79769277 C > T POLR3A NM_007055.3:c.1909+18G>A
2/11944 8.0e-05 1 Pathogenic
View 10 89692769 89692769 G > A PTEN NM_000314.4:c.254-1G>A
1/12682 4.0e-05 1 Pathogenic
View 10 89711913 89711913 T > G PTEN NM_000314.4:c.531T>G
NP_000305.3:p.Tyr177Ter
1/13843 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 97453654 97453654 C > A TCTN3 TCTN3 NM_015631.5:c.3G>T
NM_001143973.1:c.3G>T
NP_056446.4:p.Met1?
NP_001137445.1:p.Met1?
2/13144 8.0e-05 1 Pathogenic
View 10 101486855 101486855 G > C COX15 COX15 NM_004376.5:c.452C>G
NM_078470.4:c.452C>G
NP_004367.2:p.Ser151Ter
NP_510870.1:p.Ser151Ter
12/14969 0.0004 1 Pathogenic
View 10 123274794 123274794 T > C FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1574A>G
NM_001144913.1:c.1127A>G
NM_001144914.1:c.788A>G
NM_000141.4:c.1124A>G
NM_023029.2:c.857A>G
NM_001144919.1:c.860A>G
NM_001144915.1:c.857A>G
NM_001144916.1:c.779A>G
NM_001144917.1:c.939+4699A>G
NM_022970.3:c.1127A>G
NM_001144918.1:c.779A>G
NP_001138385.1:p.Tyr376Cys
NP_001138386.1:p.Tyr263Cys
NP_000132.3:p.Tyr375Cys
NP_075418.1:p.Tyr286Cys
NP_001138391.1:p.Tyr287Cys
NP_001138387.1:p.Tyr286Cys
NP_001138388.1:p.Tyr260Cys
NP_075259.4:p.Tyr376Cys
NP_001138390.1:p.Tyr260Cys
1/13144 4.0e-05 1 Pathogenic
View 10 123276892 123276892 C > T FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1475G>A
NM_001144913.1:c.1087+1304G>A
NM_001144914.1:c.749-2059G>A
NM_000141.4:c.1025G>A
NM_023029.2:c.758G>A
NM_001144919.1:c.820+1304G>A
NM_001144915.1:c.758G>A
NM_001144916.1:c.680G>A
NM_001144917.1:c.939+2601G>A
NM_022970.3:c.1087+1304G>A
NM_001144918.1:c.680G>A
NP_000132.3:p.Cys342Tyr
NP_075418.1:p.Cys253Tyr
NP_001138387.1:p.Cys253Tyr
NP_001138388.1:p.Cys227Tyr
NP_001138390.1:p.Cys227Tyr
2/13144 8.0e-05 1 Pathogenic
View 10 123276892 123276892 C > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1475G>C
NM_001144913.1:c.1087+1304G>C
NM_001144914.1:c.749-2059G>C
NM_000141.4:c.1025G>C
NM_023029.2:c.758G>C
NM_001144919.1:c.820+1304G>C
NM_001144915.1:c.758G>C
NM_001144916.1:c.680G>C
NM_001144917.1:c.939+2601G>C
NM_022970.3:c.1087+1304G>C
NM_001144918.1:c.680G>C
NP_000132.3:p.Cys342Ser
NP_075418.1:p.Cys253Ser
NP_001138387.1:p.Cys253Ser
NP_001138388.1:p.Cys227Ser
NP_001138390.1:p.Cys227Ser
1/13144 4.0e-05 1 Pathogenic
View 11 299372 299372 G > A IFITM5 NM_001025295.2:c.119C>T
NP_001020466.1:p.Ser40Leu
1/13144 4.0e-05 1 Pathogenic
Displaying 50 through 100 of 878 variants