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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 | 2340153 | 2340153 | A > - | PEX10 PEX10 |
NM_153818.1:c.338del NM_002617.3:c.338del |
NP_722540.1:p.Leu113ArgfsTer40 NP_002608.1:p.Leu113ArgfsTer40 |
3/11422 | 0.00013 | 2 | Likely pathogenic | |
| View | 1 | 3319395 | 3319395 | C > - | PRDM16 PRDM16 |
NM_199454.2:c.718del NM_022114.3:c.718del |
NP_955533.2:p.Gln240SerfsTer104 NP_071397.3:p.Gln240SerfsTer104 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 8420421 | 8420421 | G > A | RERE RERE RERE |
NM_012102.3:c.3146C>T NM_001042682.1:c.1484C>T NM_001042681.1:c.3146C>T |
NP_036234.3:p.Pro1049Leu NP_001036147.1:p.Pro495Leu NP_001036146.1:p.Pro1049Leu |
1/9594 | 5.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 1 | 17331945 | 17331945 | C > T | TRNAN-GUU ATP13A2 ATP13A2 ATP13A2 |
NM_001141973.1:c.212G>A NM_001141974.1:c.212G>A NM_022089.2:c.212G>A |
NP_001135445.1:p.Trp71Ter NP_001135446.1:p.Trp71Ter NP_071372.1:p.Trp71Ter |
2/9594 | 0.0001 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 1 | 19570202 | 19570202 | C > T | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_015047.2:c.287-1G>A NM_001271427.1:c.287-1G>A NM_001271428.1:c.287-1G>A NM_001271429.1:c.221-1G>A |
1/9594 | 5.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 1 | 21889608 | 21889608 | C > - | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.303del ENST00000539907.1:c.72del ENST00000540617.1:c.138del |
ENSP00000363973.3:p.Tyr101Ter ENSP00000437674.1:p.Tyr24Ter ENSP00000442672.1:p.Tyr46Ter |
2/11422 | 9.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 23383989 | 23383989 | G > T | TRNAN-GUU KDM1A KDM1A |
NM_015013.3:c.943G>T NM_001009999.2:c.1003G>T |
NP_055828.2:p.Gly315Ter NP_001009999.1:p.Gly335Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 27874024 | 27874024 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.4603G>A |
NP_001025053.1:p.Ala1535Thr |
6/9594 | 0.00031 | 4 | non_synonymous | Likely pathogenic |
| View | 1 | 27876868 | 27876868 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1759C>T |
NP_001025053.1:p.Arg587Ter |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 1 | 47745980 | 47745980 | C > A | STIL TRNAN-GUU STIL |
NM_001048166.1:c.2150G>T NM_003035.2:c.2150G>T |
NP_001041631.1:p.Gly717Val NP_003026.2:p.Gly717Val |
4/9594 | 0.00021 | 1 | Likely pathogenic | |
| View | 1 | 63091070 | 63091070 | G > A | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1285C>T NM_001271999.1:c.1285C>T NM_033407.3:c.1285C>T NM_001272002.1:c.1285C>T NM_001272001.1:c.1285C>T |
NP_001258929.1:p.Arg429Ter NP_001258928.1:p.Arg429Ter NP_212132.2:p.Arg429Ter NP_001258931.1:p.Arg429Ter NP_001258930.1:p.Arg429Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 70505111 | 70505111 | C > T | TRNAN-GUU LRRC7 |
NM_020794.2:c.3490C>T |
NP_065845.1:p.Gln1164Ter |
1/9555 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 97839117 | 97839132 | CTGCCCACAGGCCAGG > - | DPYD TRNAN-GUU |
ENST00000370192.3:c.2043_2058del |
ENSP00000359211.3:p.Leu682IlefsTer24 |
3/11954 | 0.00013 | 1 | Likely pathogenic | |
| View | 1 | 109461364 | 109461364 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1393C>T |
NP_037428.3:p.Gln465Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 120302490 | 120302490 | G > A | TRNAN-GUU HMGCS2 HMGCS2 |
NM_001166107.1:c.560-585C>T NM_005518.3:c.682C>T |
NP_005509.1:p.Arg228Ter |
4/9594 | 0.00021 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 151377927 | 151377927 | T > - | POGZ POGZ POGZ POGZ POGZ |
NM_207171.2:c.3425del NM_001194937.1:c.3557del NM_001194938.1:c.3398del NM_015100.3:c.3584del NM_145796.3:c.3299del |
NP_997054.1:p.Lys1142ArgfsTer33 NP_001181866.1:p.Lys1186ArgfsTer33 NP_001181867.1:p.Lys1133ArgfsTer33 NP_055915.2:p.Lys1195ArgfsTer33 NP_665739.3:p.Lys1100ArgfsTer33 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 155630146 | 155630146 | A > - | YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 |
NM_001198901.1:c.1555del NM_001198902.1:c.1555del NM_001198900.1:c.1522del NM_018253.3:c.1522del NM_001198899.1:c.1522del NM_139119.2:c.1555del NM_139118.2:c.1693del NM_001198905.1:c.1495del NM_001198906.1:c.*498del NM_139121.2:c.1357del NM_001198903.1:c.1969del NM_001198904.1:c.1909del |
NP_001185830.1:p.Ser519ProfsTer8 NP_001185831.1:p.Ser519ProfsTer8 NP_001185829.1:p.Ser508ProfsTer8 NP_060723.2:p.Ser508ProfsTer8 NP_001185828.1:p.Ser508ProfsTer8 NP_620830.1:p.Ser519ProfsTer8 NP_620829.1:p.Ser565ProfsTer8 NP_001185834.1:p.Ser499ProfsTer8 NP_620832.1:p.Ser453ProfsTer8 NP_001185832.1:p.Ser657ProfsTer8 NP_001185833.1:p.Ser637ProfsTer8 |
2/9555 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 158614992 | 158614992 | A > - | SPTA1 |
NM_003126.2:c.4180del |
NP_003117.2:p.Cys1394AlafsTer25 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 158641123 | 158641124 | - > ATTTCTTACT | SPTA1 |
NM_003126.2:c.1599_1599+9dupAGTAAGAAAT |
1/9594 | 5.0e-05 | 1 | five_prime_intronic | Likely pathogenic | |
| View | 1 | 158653202 | 158653202 | C > A | SPTA1 |
NM_003126.2:c.349G>T |
NP_003117.2:p.Glu117Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 160105629 | 160105629 | G > C | ATP1A2 |
NM_000702.3:c.2285G>C |
NP_000693.1:p.Gly762Ala |
2/9594 | 0.0001 | 2 | non_synonymous | Likely pathogenic |
| View | 1 | 197072197 | 197072198 | TC > - | ASPM ASPM |
NM_001206846.1:c.4066-6904_4066-6903del NM_018136.4:c.6183_6184del |
NP_060606.3:p.Lys2062IlefsTer5 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 1 | 197104279 | 197104279 | A > T | ASPM ASPM |
NM_001206846.1:c.2120T>A NM_018136.4:c.2120T>A |
NP_001193775.1:p.Leu707Ter NP_060606.3:p.Leu707Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 202722108 | 202722109 | AA > - | KDM5B |
NM_006618.3:c.1625_1626del |
NP_006609.3:p.Phe542CysfsTer23 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 211093308 | 211093308 | A > G | KCNH1 KCNH1 |
NM_172362.2:c.1136T>C NM_002238.3:c.1055T>C |
NP_758872.1:p.Leu379Pro NP_002229.1:p.Leu352Pro |
1/9594 | 5.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 214791966 | 214791967 | TC > - | CENPF |
NM_016343.3:c.415_416del |
NP_057427.3:p.Leu139GlufsTer21 |
2/9555 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214813306 | 214813306 | A > - | CENPF |
NM_016343.3:c.1630del |
NP_057427.3:p.Ile544Ter |
2/9555 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214815852 | 214815852 | G > T | CENPF |
NM_016343.3:c.4171G>T |
NP_057427.3:p.Glu1391Ter |
4/9555 | 0.00021 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 226109695 | 226109696 | AC > - | PYCR2 PYCR2 |
NM_001271681.1:c.318+208_318+209del NM_013328.3:c.402_403del |
NP_037460.2:p.Tyr135ArgfsTer26 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 1 | 228345476 | 228345476 | G > A | GJC2 |
NM_020435.3:c.17G>A |
NP_065168.2:p.Trp6Ter |
2/11422 | 9.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 231114941 | 231114941 | C > A | ARV1 |
NM_022786.1:c.90C>A |
NP_073623.1:p.Cys30Ter |
3/9594 | 0.00021 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 245020952 | 245020952 | T > C | HNRNPU HNRNPU |
NM_031844.2:c.1562A>G NM_004501.3:c.1505A>G |
NP_114032.2:p.Asn521Ser NP_004492.2:p.Asn502Ser |
1/9594 | 5.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 10 | 28906653 | 28906653 | T > G | WAC WAC WAC |
NM_016628.4:c.1814T>G NM_100486.3:c.1505T>G NR_024557.2:n.2288T>G |
NP_057712.2:p.Leu605Ter NP_567823.1:p.Leu502Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 48390590 | 48390590 | G > - | RBP3 |
NM_002900.2:c.288del |
NP_002891.1:p.Glu97SerfsTer48 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 10 | 73121920 | 73121920 | C > - | SLC29A3 SLC29A3 SLC29A3 SLC29A3 |
NM_001174098.1:c.*213del NM_018344.5:c.984del NR_033414.1:n.731del NR_033413.1:n.958del |
NP_060814.4:p.Asn329ThrfsTer76 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 73767841 | 73767841 | C > T | CHST3 |
NM_004273.4:c.1052C>T |
NP_004264.2:p.Ser351Phe |
3/9939 | 0.0002 | 2 | non_synonymous | Likely pathogenic |
| View | 10 | 76781789 | 76781789 | C > T | KAT6B KAT6B KAT6B |
NM_001256469.1:c.2296C>T NM_012330.3:c.3172C>T NM_001256468.1:c.2623C>T |
NP_001243398.1:p.Arg766Ter NP_036462.2:p.Arg1058Ter NP_001243397.1:p.Arg875Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 79761985 | 79761991 | GGCTGTT > - | POLR3A |
NM_007055.3:c.2323_2329del |
NP_008986.2:p.Asn775ProfsTer19 |
3/9594 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 10 | 94409684 | 94409684 | C > T | KIF11 |
NM_004523.3:c.2863C>T |
NP_004514.2:p.Gln955Ter |
2/9594 | 0.0001 | 1 | Likely pathogenic | |
| View | 10 | 102506065 | 102506065 | G > T | PAX2 PAX2 PAX2 |
ENST00000355243.3:c.43+5G>T NM_003988.3:c.43+5G>T ENST00000428433.1:c.43+5G>T |
5/9594 | 0.00026 | 2 | five_prime_flank | Likely pathogenic | |
| View | 10 | 135180494 | 135180494 | G > A | ECHS1 |
NM_004092.3:c.518C>T |
NP_004083.3:p.Ala173Val |
10/9594 | 0.00063 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 1457308 | 1457308 | A > - | BRSK2 BRSK2 BRSK2 BRSK2 BRSK2 BRSK2 |
NM_001256630.1:c.269del NM_003957.3:c.131del NR_046332.1:n.504del NM_001256629.1:c.131del NM_001256627.1:c.131del NR_046331.1:n.517del |
NP_001243559.1:p.Lys90ArgfsTer17 NP_003948.2:p.Lys44ArgfsTer17 NP_001243558.1:p.Lys44ArgfsTer17 NP_001243556.1:p.Lys44ArgfsTer17 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 11 | 2193086 | 2193086 | C > T | 3/11383 | 0.00013 | 1 | Likely pathogenic | ||||
| View | 11 | 6413349 | 6413349 | G > T | SMPD1 SMPD1 |
NM_000543.4:c.1054G>T NM_001007593.2:c.1051G>T |
NP_000534.3:p.Glu352Ter NP_001007594.2:p.Glu351Ter |
4/11422 | 0.00018 | 2 | premature_stop | Likely pathogenic |
| View | 11 | 17596437 | 17596437 | C > T | OTOG |
NM_001277269.1:c.2500C>T |
NP_001264198.1:p.Gln834Ter |
12/9585 | 0.00063 | 2 | premature_stop | Likely pathogenic |
| View | 11 | 22239825 | 22239825 | C > T | ANO5 ANO5 |
NM_213599.2:c.172C>T NM_001142649.1:c.169C>T |
NP_998764.1:p.Arg58Trp NP_001136121.1:p.Arg57Trp |
5/9594 | 0.00026 | 1 | Likely pathogenic | |
| View | 11 | 36596859 | 36596859 | G > A | RAG1 |
ENST00000299440.5:c.2005G>A |
ENSP00000299440.5:p.Glu669Lys |
1/11422 | 4.0e-05 | 1 | Likely pathogenic | |
| View | 11 | 57569278 | 57569278 | C > T | 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.1030C>T ENST00000361332.4:c.1030C>T ENST00000530094.1:c.727C>T ENST00000528232.1:c.727C>T ENST00000532463.1:c.727C>T ENST00000399050.4:c.1030C>T ENST00000426142.2:c.727C>T ENST00000532787.1:c.727C>T ENST00000415361.2:c.727C>T ENST00000526357.1:c.868C>T ENST00000529873.1:c.868C>T ENST00000428599.2:c.1030C>T ENST00000532245.1:c.727C>T ENST00000532649.1:c.868C>T ENST00000529986.1:c.727C>T ENST00000528621.1:c.868C>T ENST00000530748.1:c.868C>T ENST00000532844.1:c.868C>T ENST00000361391.6:c.1030C>T ENST00000361796.4:c.1030C>T ENST00000529526.1:c.868C>T NR_037646.1:n.1589C>T |
ENSP00000351527.6:p.Arg344Ter ENSP00000354823.4:p.Arg344Ter ENSP00000437327.1:p.Arg243Ter ENSP00000435266.1:p.Arg243Ter ENSP00000432075.1:p.Arg243Ter ENSP00000382004.4:p.Arg344Ter ENSP00000409930.2:p.Arg243Ter ENSP00000434949.1:p.Arg243Ter ENSP00000403518.2:p.Arg243Ter ENSP00000433334.1:p.Arg290Ter ENSP00000435494.1:p.Arg290Ter ENSP00000413586.2:p.Arg344Ter ENSP00000434017.1:p.Arg243Ter ENSP00000435379.1:p.Arg290Ter ENSP00000437156.1:p.Arg243Ter ENSP00000432243.1:p.Arg290Ter ENSP00000436744.1:p.Arg290Ter ENSP00000433276.1:p.Arg290Ter ENSP00000354785.6:p.Arg344Ter ENSP00000354907.4:p.Arg344Ter ENSP00000436323.1:p.Arg290Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 11 | 61160688 | 61160702 | GTGCTCCTTTTTCAG > - | TMEM216 TMEM216 TMEM216 |
NM_001173990.2:c.35-13_36del NM_001173991.2:c.35-13_36del NM_016499.5:c.-149-13_-148del |
3/9594 | 0.00016 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 65318944 | 65318944 | G > A | LTBP3 LTBP3 LTBP3 |
NM_021070.4:c.1550C>T NM_001130144.2:c.1550C>T NM_001164266.1:c.1199C>T |
NP_066548.2:p.Pro517Leu NP_001123616.1:p.Pro517Leu NP_001157738.1:p.Pro400Leu |
4/9594 | 0.00021 | 2 | non_synonymous | Likely pathogenic |