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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 |
NM_002617.3:c.338del NM_153818.1:c.338del |
NP_002608.1:p.Leu113ArgfsTer40 NP_722540.1:p.Leu113ArgfsTer40 |
3/6913 | 0.00022 | 2 | Likely pathogenic | |
| View | 1 | 8420421 | 8420421 | G > A | RERE |
NM_001042682.1:c.1484C>T NM_012102.3:c.3146C>T NM_001042681.1:c.3146C>T |
NP_001036147.1:p.Pro495Leu NP_036234.3:p.Pro1049Leu NP_001036146.1:p.Pro1049Leu |
1/5119 | 0.0001 | 1 | non_synonymous | Likely pathogenic |
| View | 1 | 19570202 | 19570202 | C > T | EMC1 TRNAN-GUU |
NM_001271427.1:c.287-1G>A NM_015047.2:c.287-1G>A NM_001271428.1:c.287-1G>A NM_001271429.1:c.221-1G>A |
1/5119 | 0.0001 | 2 | acceptor_site | Likely pathogenic | |
| View | 1 | 21889608 | 21889608 | C > - | ALPL TRNAN-GUU |
NM_000478.4:c.303del NM_001177520.1:c.72del NM_001127501.2:c.138del |
NP_000469.3:p.Tyr101Ter NP_001170991.1:p.Tyr24Ter NP_001120973.2:p.Tyr46Ter |
2/6913 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 63091070 | 63091070 | G > A | DOCK7 TRNAN-GUU |
NM_033407.3:c.1285C>T NM_001272000.1:c.1285C>T NM_001271999.1:c.1285C>T NM_001272001.1:c.1285C>T NM_001272002.1:c.1285C>T |
NP_212132.2:p.Arg429Ter NP_001258929.1:p.Arg429Ter NP_001258928.1:p.Arg429Ter NP_001258930.1:p.Arg429Ter NP_001258931.1:p.Arg429Ter |
1/5119 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 211093308 | 211093308 | A > G | KCNH1 |
NM_172362.2:c.1136T>C NM_002238.3:c.1055T>C |
NP_758872.1:p.Leu379Pro NP_002229.1:p.Leu352Pro |
1/5119 | 0.0001 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 228345476 | 228345476 | G > A | GJC2 |
NM_020435.3:c.17G>A |
NP_065168.2:p.Trp6Ter |
2/6913 | 0.00014 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 73767841 | 73767841 | C > T | CHST3 |
NM_004273.4:c.1052C>T |
NP_004264.2:p.Ser351Phe |
3/5211 | 0.00038 | 2 | non_synonymous | Likely pathogenic |
| View | 10 | 102506065 | 102506065 | G > T | PAX2 |
NM_003989.3:c.43+5G>T NM_003987.3:c.43+5G>T NM_003990.3:c.43+5G>T NM_003988.3:c.43+5G>T NM_000278.3:c.43+5G>T |
5/5119 | 0.00049 | 2 | five_prime_flank | Likely pathogenic | |
| View | 10 | 135180494 | 135180494 | G > A | ECHS1 |
NM_004092.3:c.518C>T |
NP_004083.3:p.Ala173Val |
8/5119 | 0.00098 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 36596859 | 36596859 | G > A | RAG1 |
ENST00000299440.5:c.2005G>A |
ENSP00000299440.5:p.Glu669Lys |
1/6913 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 11 | 61160688 | 61160702 | GTGCTCCTTTTTCAG > - | TMEM216 |
NM_001173991.2:c.35-13_36del NM_016499.5:c.-149-13_-148del NM_001173990.2:c.35-13_36del |
3/5119 | 0.00029 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 65318944 | 65318944 | G > A | LTBP3 |
NM_001130144.2:c.1550C>T NM_021070.4:c.1550C>T NM_001164266.1:c.1199C>T |
NP_001123616.1:p.Pro517Leu NP_066548.2:p.Pro517Leu NP_001157738.1:p.Pro400Leu |
2/5119 | 0.0002 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 86017286 | 86017286 | G > T | HIKESHI |
NM_016401.3:c.31-1G>T NR_024598.1:n.268+3766G>T NR_024596.1:n.106-1G>T NR_024597.1:n.268+3766G>T |
1/5101 | 0.0001 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 110134684 | 110134684 | C > T | RDX |
NM_001260492.1:c.467+1G>A NM_001260496.1:c.371+1G>A NM_001260493.1:c.467+1G>A NM_001260494.1:c.60-5770G>A NM_001260495.1:c.-83+15722G>A NM_002906.3:c.467+1G>A |
2/5119 | 0.0002 | 2 | donor_site | Likely pathogenic | |
| View | 11 | 118374265 | 118374266 | - > A | KMT2A |
NM_001197104.1:c.7659dupA NM_005933.3:c.7650dupA |
NP_001184033.1:p.Glu2554ArgfsTer13 NP_005924.2:p.Glu2551ArgfsTer13 |
1/5119 | 0.0001 | 1 | frameshift | Likely pathogenic |
| View | 12 | 49449106 | 49449106 | A > G | KMT2D |
NM_003482.3:c.2T>C |
NP_003473.3:p.Met1? |
2/5119 | 0.0002 | 2 | loss_of_initiation | Likely pathogenic |
| View | 12 | 52184263 | 52184263 | C > A | SCN8A |
NM_014191.3:c.4501C>A NM_001177984.2:c.4378C>A |
NP_055006.1:p.Gln1501Lys NP_001171455.1:p.Gln1460Lys |
1/5119 | 0.0001 | 3 | non_synonymous | Likely pathogenic |
| View | 12 | 116435014 | 116435014 | A > T | MED13L |
NM_015335.4:c.2591T>A |
NP_056150.1:p.Met864Lys |
1/5119 | 0.0001 | 1 | non_synonymous | Likely pathogenic |
| View | 12 | 120241182 | 120241183 | - > G | CIT |
NM_007174.2:c.1122dupC NM_001206999.1:c.1122dupC |
NP_009105.1:p.Phe375LeufsTer8 NP_001193928.1:p.Phe375LeufsTer8 |
2/5101 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 13 | 20797557 | 20797557 | C > - | GJB6 |
NM_001110221.2:c.63del NM_006783.4:c.63del NM_001110219.2:c.63del NM_001110220.2:c.63del |
NP_001103691.1:p.Lys22ArgfsTer13 NP_006774.2:p.Lys22ArgfsTer13 NP_001103689.1:p.Lys22ArgfsTer13 NP_001103690.1:p.Lys22ArgfsTer13 |
8/5119 | 0.00078 | 1 | Likely pathogenic | |
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
57/5119 | 0.00557 | 1 | Likely pathogenic | |
| View | 13 | 52548491 | 52548491 | G > A | ATP7B |
NM_001243182.1:c.802+63C>T NM_001005918.2:c.865C>T NM_000053.3:c.865C>T |
NP_001005918.1:p.Gln289Ter NP_000044.2:p.Gln289Ter |
1/7003 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 13 | 100953719 | 100953719 | G > T | PCCA |
NM_000282.3:c.1071G>T NM_001127692.2:c.993G>T NM_001178004.1:c.1071G>T |
NP_000273.2:p.Glu357Asp NP_001121164.1:p.Glu331Asp NP_001171475.1:p.Glu357Asp |
1/6913 | 0.00014 | 1 | non_synonymous found likely homozygous in a patient with clinical biochemical dx of PA | Likely pathogenic |
| View | 14 | 23894999 | 23894999 | G > T | MYH7 |
NM_000257.2:c.2191C>A |
NP_000248.2:p.Pro731Thr |
1/5119 | 0.0001 | 1 | Likely pathogenic | |
| View | 14 | 58895075 | 58895076 | - > C | KIAA0586 |
NM_014749.3:c.94dupC NM_001244191.1:c.-57+721dupC NM_001244190.1:c.49dupC NM_001244192.1:c.-57+721dupC NM_001244189.1:c.130dupC |
NP_055564.3:p.His32ProfsTer8 NP_001231119.1:p.His17ProfsTer8 NP_001231118.1:p.His44ProfsTer8 |
2/5101 | 0.0002 | 1 | Likely pathogenic | |
| View | 14 | 68234545 | 68234554 | GAGCTGTCTA > - | ZFYVE26 |
ENST00000347230.4:c.5657_5666del |
ENSP00000251119.5:p.Leu1886ProfsTer12 |
2/5119 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 14 | 74531982 | 74531982 | G > - | ALDH6A1 BBOF1 |
NM_001278594.1:c.844del NM_025057.2:c.*581del NM_005589.3:c.1306del NM_001278593.1:c.1267del |
NP_001265523.1:p.Gln282ArgfsTer3 NP_005580.1:p.Gln436ArgfsTer3 NP_001265522.1:p.Gln423ArgfsTer3 |
2/5211 | 0.00019 | 2 | frameshift | Likely pathogenic |
| View | 15 | 57526310 | 57526310 | G > A | TCF12 |
NM_003205.3:c.1035+5G>A NM_207040.1:c.525+5G>A NM_207036.1:c.1035+5G>A NM_207037.1:c.1035+5G>A NM_207038.1:c.1035+5G>A |
1/5119 | 0.0001 | 2 | five_prime_flank | Likely pathogenic | |
| View | 15 | 89872286 | 89872286 | A > C | POLG |
NM_002693.2:c.911T>G NM_001126131.1:c.911T>G |
NP_002684.1:p.Leu304Arg NP_001119603.1:p.Leu304Arg |
1/6913 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 15 | 101120526 | 101120526 | A > - | LINS1 |
ENST00000314742.8:c.431del |
ENSP00000318423.8:p.Leu144TyrfsTer17 |
3/5119 | 0.00029 | 2 | frameshift | Likely pathogenic |
| View | 16 | 2131781 | 2131782 | - > T | TSC2 |
NM_001077183.1:c.3665dupT NM_001114382.1:c.3797dupT NM_000548.3:c.3797dupT |
NP_001070651.1:p.Pro1223AlafsTer32 NP_001107854.1:p.Pro1267AlafsTer32 NP_000539.2:p.Pro1267AlafsTer55 |
2/5119 | 0.0002 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 16 | 3786691 | 3786691 | A > G | CREBBP |
NM_004380.2:c.4520T>C NM_001079846.1:c.4406T>C |
NP_004371.2:p.Leu1507Pro NP_001073315.1:p.Leu1469Pro |
1/5119 | 0.0001 | 2 | Likely pathogenic | |
| View | 16 | 9923392 | 9923392 | G > A | GRIN2A |
NM_001134408.1:c.1895C>T NM_000833.3:c.1895C>T NM_001134407.1:c.1895C>T |
NP_001127880.1:p.Ser632Phe NP_000824.1:p.Ser632Phe NP_001127879.1:p.Ser632Phe |
1/5119 | 0.0001 | 2 | non_synonymous | Likely pathogenic |
| View | 16 | 14022053 | 14022053 | T > - | ERCC4 |
NM_005236.2:c.755del |
NP_005227.1:p.Leu252TyrfsTer3 |
2/6913 | 0.00014 | 2 | frameshift | Likely pathogenic |
| View | 16 | 23555998 | 23555998 | G > A | EARS2 |
NM_001083614.1:c.322C>T NR_003501.1:n.354C>T |
NP_001077083.1:p.Arg108Trp |
4/5119 | 0.00039 | 1 | Likely pathogenic | |
| View | 16 | 53671640 | 53671640 | C > A | RPGRIP1L |
NM_015272.2:c.3187G>T NM_001127897.1:c.3085G>T |
NP_056087.2:p.Glu1063Ter NP_001121369.1:p.Glu1029Ter |
1/6913 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 16 | 56388883 | 56388883 | A > G | GNAO1 |
NM_020988.2:c.983A>G |
NP_066268.1:p.Asp328Gly |
1/5119 | 0.0001 | 1 | non_synonymous | Likely pathogenic |
| View | 16 | 56530925 | 56530925 | G > A | BBS2 |
ENST00000245157.5:c.1864C>T |
ENSP00000245157.5:p.Arg622Ter |
1/5119 | 0.0001 | 1 | Likely pathogenic | |
| View | 16 | 88873798 | 88873798 | G > A | CDT1 |
NM_030928.3:c.1385G>A |
NP_112190.2:p.Arg462Gln |
1/5119 | 0.0001 | 1 | Likely pathogenic | |
| View | 16 | 89167117 | 89167117 | C > T | ACSF3 |
NR_045666.1:n.405C>T NR_023316.2:n.185-1895C>T NM_001243279.1:c.28C>T NM_001127214.2:c.28C>T NM_174917.3:c.28C>T |
NP_001230208.1:p.Arg10Trp NP_001120686.1:p.Arg10Trp NP_777577.2:p.Arg10Trp |
3/5119 | 0.00029 | 3 | non_synonymous | Likely pathogenic |
| View | 16 | 89350772 | 89350775 | TTTG > - | ANKRD11 |
NM_001256182.1:c.2175_2178del NM_013275.5:c.2175_2178del NM_001256183.1:c.2175_2178del |
NP_001243111.1:p.Asn725LysfsTer23 NP_037407.4:p.Asn725LysfsTer23 NP_001243112.1:p.Asn725LysfsTer23 |
2/5119 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 17 | 3559997 | 3559997 | G > A | CTNS |
NM_001031681.2:c.589G>A NM_004937.2:c.589G>A |
NP_001026851.2:p.Gly197Arg NP_004928.2:p.Gly197Arg |
3/6913 | 0.00022 | 1 | Likely pathogenic | |
| View | 17 | 7125312 | 7125312 | G > A | ACADVL |
NM_000018.3:c.664G>A NM_001270448.1:c.436G>A NM_001033859.2:c.598G>A NM_001270447.1:c.733G>A |
NP_000009.1:p.Gly222Arg NP_001257377.1:p.Gly146Arg NP_001029031.1:p.Gly200Arg NP_001257376.1:p.Gly245Arg |
2/6913 | 0.00014 | 1 | Likely pathogenic | |
| View | 17 | 15142862 | 15142862 | A > G | PMP22 |
NM_001281455.1:c.245T>C NM_000304.3:c.245T>C NR_104017.1:n.371T>C NR_104018.1:n.271T>C NM_153322.2:c.245T>C NM_001281456.1:c.245T>C NM_153321.2:c.245T>C |
NP_001268384.1:p.Leu82Pro NP_000295.1:p.Leu82Pro NP_696997.1:p.Leu82Pro NP_001268385.1:p.Leu82Pro NP_696996.1:p.Leu82Pro |
2/6913 | 0.00014 | 1 | non_synonymous | Likely pathogenic |
| View | 17 | 34893231 | 34893231 | T > A | PIGW |
NM_178517.3:c.281T>A |
NP_848612.2:p.Leu94Ter |
2/5119 | 0.0002 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 34893565 | 34893568 | TGTT > - | PIGW |
NM_178517.3:c.617_620del |
NP_848612.2:p.Val206GlyfsTer3 |
3/5119 | 0.00029 | 2 | frameshift | Likely pathogenic |
| View | 17 | 37844236 | 37844236 | A > - | PGAP3 |
NM_033419.3:c.32del |
NP_219487.3:p.Leu11GlnfsTer36 |
1/5119 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 17 | 44143903 | 44143903 | C > A | KANSL1 |
ENST00000572904.1:c.1848G>T ENST00000262419.6:c.1848G>T ENST00000432791.1:c.1848G>T |
ENSP00000461484.1:p.Lys616Asn ENSP00000262419.6:p.Lys616Asn ENSP00000387393.1:p.Lys616Asn |
1/5119 | 0.0001 | 1 | non_synonymous | Likely pathogenic |
| View | 17 | 56292109 | 56292109 | G > A | MKS1 |
NM_001165927.1:c.478C>T NM_017777.3:c.508C>T |
NP_001159399.1:p.Arg160Ter NP_060247.2:p.Arg170Ter |
1/6913 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |