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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 |
3/8745 | 0.00017 | 2 | 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 |
1/6955 | 7.0e-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 |
2/6955 | 0.00014 | 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 |
1/6955 | 7.0e-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 |
2/8745 | 0.00011 | 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 |
2/6955 | 0.00014 | 4 | non_synonymous | 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 |
4/6955 | 0.00029 | 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 |
1/6955 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 109461364 | 109461364 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1393C>T |
NP_037428.3:p.Gln465Ter |
2/6955 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 160105629 | 160105629 | G > C | ATP1A2 |
NM_000702.3:c.2285G>C |
NP_000693.1:p.Gly762Ala |
2/6955 | 0.00014 | 2 | non_synonymous | 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 |
2/6955 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 202722108 | 202722109 | AA > - | KDM5B |
NM_006618.3:c.1625_1626del |
NP_006609.3:p.Phe542CysfsTer23 |
1/6955 | 7.0e-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 |
1/6955 | 7.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 214813306 | 214813306 | A > - | CENPF |
NM_016343.3:c.1630del |
NP_057427.3:p.Ile544Ter |
2/6916 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214815852 | 214815852 | G > T | CENPF |
NM_016343.3:c.4171G>T |
NP_057427.3:p.Glu1391Ter |
4/6916 | 0.00029 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 228345476 | 228345476 | G > A | GJC2 |
NM_020435.3:c.17G>A |
NP_065168.2:p.Trp6Ter |
2/8745 | 0.00011 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 231114941 | 231114941 | C > A | ARV1 |
NM_022786.1:c.90C>A |
NP_073623.1:p.Cys30Ter |
3/6955 | 0.00029 | 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 |
1/6955 | 7.0e-05 | 2 | non_synonymous | 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 |
1/6955 | 7.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 73767841 | 73767841 | C > T | CHST3 |
NM_004273.4:c.1052C>T |
NP_004264.2:p.Ser351Phe |
3/7166 | 0.00028 | 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 |
1/6955 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 79761985 | 79761991 | GGCTGTT > - | POLR3A |
NM_007055.3:c.2323_2329del |
NP_008986.2:p.Asn775ProfsTer19 |
1/6955 | 7.0e-05 | 2 | frameshift | 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 |
5/6955 | 0.00036 | 2 | five_prime_flank | Likely pathogenic | |
| View | 10 | 135180494 | 135180494 | G > A | ECHS1 |
NM_004092.3:c.518C>T |
NP_004083.3:p.Ala173Val |
8/6955 | 0.00072 | 2 | non_synonymous | 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 |
4/8745 | 0.00023 | 2 | premature_stop | Likely pathogenic |
| View | 11 | 36596859 | 36596859 | G > A | RAG1 |
ENST00000299440.5:c.2005G>A |
ENSP00000299440.5:p.Glu669Lys |
1/8745 | 6.0e-05 | 1 | 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 |
3/6955 | 0.00022 | 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 |
2/6955 | 0.00014 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 76924904 | 76924904 | G > A | MYO7A MYO7A |
NM_000260.3:c.6439-1G>A NM_001127180.1:c.6319-1G>A |
1/8745 | 6.0e-05 | 1 | Likely pathogenic | ||
| View | 11 | 86017286 | 86017286 | G > T | HIKESHI HIKESHI HIKESHI HIKESHI |
NR_024597.1:n.268+3766G>T NR_024596.1:n.106-1G>T NM_016401.3:c.31-1G>T NR_024598.1:n.268+3766G>T |
1/6916 | 7.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 110134684 | 110134684 | C > T | RDX RDX RDX RDX RDX RDX |
NM_001260492.1:c.467+1G>A NM_001260493.1:c.467+1G>A NM_001260494.1:c.60-5770G>A NM_002906.3:c.467+1G>A NM_001260495.1:c.-83+15722G>A NM_001260496.1:c.371+1G>A |
2/6955 | 0.00014 | 2 | donor_site | Likely pathogenic | |
| View | 11 | 118374265 | 118374266 | - > A | KMT2A KMT2A |
NM_001197104.1:c.7659dupA NM_005933.3:c.7650dupA |
NP_001184033.1:p.Glu2554ArgfsTer13 NP_005924.2:p.Glu2551ArgfsTer13 |
1/6955 | 7.0e-05 | 1 | frameshift | Likely pathogenic |
| View | 11 | 119216266 | 119216266 | G > - | MFRP C1QTNF5 |
NM_031433.3:c.505del NM_015645.4:c.-2132del |
NP_113621.1:p.His169ThrfsTer23 |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 12 | 4385250 | 4385250 | C > T | CCND2 |
NM_001759.3:c.275C>T |
NP_001750.1:p.Pro92Leu |
1/6955 | 7.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 12 | 49449106 | 49449106 | A > G | KMT2D |
NM_003482.3:c.2T>C |
NP_003473.3:p.Met1? |
2/6955 | 0.00014 | 2 | loss_of_initiation | Likely pathogenic |
| View | 12 | 52184263 | 52184263 | C > A | SCN8A SCN8A |
NM_014191.3:c.4501C>A NM_001177984.2:c.4378C>A |
NP_055006.1:p.Gln1501Lys NP_001171455.1:p.Gln1460Lys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 12 | 53702942 | 53702942 | G > A | AAAS AAAS |
NM_001173466.1:c.835C>T NM_015665.5:c.934C>T |
NP_001166937.1:p.Arg279Ter NP_056480.1:p.Arg312Ter |
2/8745 | 0.00011 | 1 | Likely pathogenic | |
| View | 12 | 88449386 | 88449386 | T > - | CEP290 |
ENST00000552810.1:c.6927del |
ENSP00000448012.1:p.Val2310LeufsTer37 |
2/8745 | 0.00011 | 2 | frameshift | Likely pathogenic |
| View | 12 | 116435014 | 116435014 | A > T | MED13L |
NM_015335.4:c.2591T>A |
NP_056150.1:p.Met864Lys |
1/6955 | 7.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 12 | 120241182 | 120241183 | - > G | CIT CIT |
NM_001206999.1:c.1122dupC NM_007174.2:c.1122dupC |
NP_001193928.1:p.Phe375LeufsTer8 NP_009105.1:p.Phe375LeufsTer8 |
2/6916 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 12 | 120876244 | 120876244 | A > - | COX6A1 |
NM_004373.3:c.167del |
NP_004364.2:p.Asn56MetfsTer4 |
2/6955 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 13 | 20763612 | 20763612 | C > T | GJB2 |
NM_004004.5:c.109G>A |
NP_003995.2:p.Val37Ile |
42/8745 | 0.00257 | 1 | Likely pathogenic | |
| View | 13 | 20763634 | 20763636 | GAA > - | GJB2 |
NM_004004.5:c.85_87del |
NP_003995.2:p.Phe29del |
1/8745 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 13 | 20797557 | 20797557 | C > - | GJB6 GJB6 GJB6 GJB6 |
NM_001110220.2:c.63del NM_001110221.2:c.63del NM_006783.4:c.63del NM_001110219.2:c.63del |
NP_001103690.1:p.Lys22ArgfsTer13 NP_001103691.1:p.Lys22ArgfsTer13 NP_006774.2:p.Lys22ArgfsTer13 NP_001103689.1:p.Lys22ArgfsTer13 |
11/6955 | 0.00079 | 1 | Likely pathogenic | |
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
69/6955 | 0.00496 | 1 | Likely pathogenic | |
| View | 13 | 52548491 | 52548491 | G > A | ATP7B ATP7B ATP7B |
NM_001243182.1:c.802+63C>T NM_000053.3:c.865C>T NM_001005918.2:c.865C>T |
NP_000044.2:p.Gln289Ter NP_001005918.1:p.Gln289Ter |
1/8954 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 13 | 100953719 | 100953719 | G > T | PCCA PCCA PCCA |
NM_000282.3:c.1071G>T NM_001178004.1:c.1071G>T NM_001127692.2:c.993G>T |
NP_000273.2:p.Glu357Asp NP_001171475.1:p.Glu357Asp NP_001121164.1:p.Glu331Asp |
1/8745 | 0.00011 | 1 | non_synonymous found likely homozygous in a patient with clinical biochemical dx of PA | Likely pathogenic |
| View | 14 | 20944591 | 20944591 | G > C | PNP |
NM_000270.3:c.701G>C |
NP_000261.2:p.Arg234Pro |
2/6955 | 0.00014 | 1 | Likely pathogenic | |
| View | 14 | 23894999 | 23894999 | G > T | MYH7 |
NM_000257.2:c.2191C>A |
NP_000248.2:p.Pro731Thr |
1/6955 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 14 | 58895075 | 58895076 | - > C | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.94dupC NM_001244189.1:c.130dupC NM_001244190.1:c.49dupC NM_001244191.1:c.-57+721dupC NM_001244192.1:c.-57+721dupC |
NP_055564.3:p.His32ProfsTer8 NP_001231118.1:p.His44ProfsTer8 NP_001231119.1:p.His17ProfsTer8 |
3/6916 | 0.00022 | 1 | Likely pathogenic |