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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_002617.3:c.338del
NM_153818.1:c.338del
NP_002608.1:p.Leu113ArgfsTer40
NP_722540.1:p.Leu113ArgfsTer40
3/8004 0.00019 2 Likely pathogenic
View 1 8420421 8420421 G > A RERE RERE 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
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 1 19570202 19570202 C > T EMC1 TRNAN-GUU EMC1 EMC1 EMC1 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
1/6213 8.0e-05 2 acceptor_site Likely pathogenic
View 1 21889608 21889608 C > - TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.138del
ENST00000539907.1:c.72del
ENST00000374840.3:c.303del
ENSP00000442672.1:p.Tyr46Ter
ENSP00000437674.1:p.Tyr24Ter
ENSP00000363973.3:p.Tyr101Ter
2/8004 0.00012 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
2/6213 0.00016 4 non_synonymous Likely pathogenic
View 1 47745980 47745980 C > A TRNAN-GUU STIL STIL NM_001048166.1:c.2150G>T
NM_003035.2:c.2150G>T
NP_001041631.1:p.Gly717Val
NP_003026.2:p.Gly717Val
4/6213 0.00032 1 Likely pathogenic
View 1 63091070 63091070 G > A TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 DOCK7 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
1/6213 8.0e-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
2/6213 0.00016 2 premature_stop Likely pathogenic
View 1 160105629 160105629 G > C ATP1A2 NM_000702.3:c.2285G>C
NP_000693.1:p.Gly762Ala
2/6213 0.00016 2 non_synonymous Likely pathogenic
View 1 197104279 197104279 A > T ASPM ASPM NM_018136.4:c.2120T>A
NM_001206846.1:c.2120T>A
NP_060606.3:p.Leu707Ter
NP_001193775.1:p.Leu707Ter
2/6213 0.00016 2 premature_stop 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
1/6213 8.0e-05 3 non_synonymous Likely pathogenic
View 1 214813306 214813306 A > - CENPF NM_016343.3:c.1630del
NP_057427.3:p.Ile544Ter
2/6174 0.00016 2 frameshift Likely pathogenic
View 1 214815852 214815852 G > T CENPF NM_016343.3:c.4171G>T
NP_057427.3:p.Glu1391Ter
4/6174 0.00032 2 premature_stop Likely pathogenic
View 1 228345476 228345476 G > A GJC2 NM_020435.3:c.17G>A
NP_065168.2:p.Trp6Ter
2/8004 0.00012 2 premature_stop Likely pathogenic
View 10 73767841 73767841 C > T CHST3 NM_004273.4:c.1052C>T
NP_004264.2:p.Ser351Phe
3/6435 0.00031 2 non_synonymous Likely pathogenic
View 10 76781789 76781789 C > T KAT6B KAT6B KAT6B NM_001256468.1:c.2623C>T
NM_001256469.1:c.2296C>T
NM_012330.3:c.3172C>T
NP_001243397.1:p.Arg875Ter
NP_001243398.1:p.Arg766Ter
NP_036462.2:p.Arg1058Ter
1/6213 8.0e-05 2 premature_stop Likely pathogenic
View 10 79761985 79761991 GGCTGTT > - POLR3A NM_007055.3:c.2323_2329del
NP_008986.2:p.Asn775ProfsTer19
1/6213 8.0e-05 2 frameshift Likely pathogenic
View 10 102506065 102506065 G > T PAX2 PAX2 PAX2 ENST00000428433.1:c.43+5G>T
ENST00000355243.3:c.43+5G>T
NM_003988.3:c.43+5G>T
5/6213 0.0004 2 five_prime_flank Likely pathogenic
View 10 135180494 135180494 G > A ECHS1 NM_004092.3:c.518C>T
NP_004083.3:p.Ala173Val
8/6213 0.0008 2 non_synonymous Likely pathogenic
View 11 36596859 36596859 G > A RAG1 ENST00000299440.5:c.2005G>A
ENSP00000299440.5:p.Glu669Lys
1/8004 6.0e-05 1 Likely pathogenic
View 11 61160688 61160702 GTGCTCCTTTTTCAG > - TMEM216 TMEM216 TMEM216 NM_016499.5:c.-149-13_-148del
NM_001173991.2:c.35-13_36del
NM_001173990.2:c.35-13_36del
3/6213 0.00024 2 acceptor_site Likely pathogenic
View 11 65318944 65318944 G > A LTBP3 LTBP3 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
2/6213 0.00016 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
1/8004 6.0e-05 2 acceptor_site Likely pathogenic
View 11 86017286 86017286 G > T HIKESHI HIKESHI HIKESHI HIKESHI NR_024598.1:n.268+3766G>T
NM_016401.3:c.31-1G>T
NR_024597.1:n.268+3766G>T
NR_024596.1:n.106-1G>T
1/6174 8.0e-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_001260496.1:c.371+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
2/6213 0.00016 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
1/6213 8.0e-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
2/6213 0.00016 2 frameshift Likely pathogenic
View 12 4385250 4385250 C > T CCND2 NM_001759.3:c.275C>T
NP_001750.1:p.Pro92Leu
1/6213 8.0e-05 2 non_synonymous Likely pathogenic
View 12 49449106 49449106 A > G KMT2D NM_003482.3:c.2T>C
NP_003473.3:p.Met1?
2/6213 0.00016 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
1/6213 8.0e-05 3 non_synonymous Likely pathogenic
View 12 116435014 116435014 A > T MED13L NM_015335.4:c.2591T>A
NP_056150.1:p.Met864Lys
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 12 120241182 120241183 - > G CIT CIT NM_007174.2:c.1122dupC
NM_001206999.1:c.1122dupC
NP_009105.1:p.Phe375LeufsTer8
NP_001193928.1:p.Phe375LeufsTer8
2/6174 0.00016 2 frameshift Likely pathogenic
View 12 120876244 120876244 A > - COX6A1 NM_004373.3:c.167del
NP_004364.2:p.Asn56MetfsTer4
2/6213 0.00016 2 frameshift Likely pathogenic
View 13 20763634 20763636 GAA > - GJB2 NM_004004.5:c.85_87del
NP_003995.2:p.Phe29del
1/8004 6.0e-05 1 Likely pathogenic
View 13 20797557 20797557 C > - GJB6 GJB6 GJB6 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
8/6213 0.00064 1 Likely pathogenic
View 13 37583420 37583420 G > C EXOSC8 NM_181503.2:c.815G>C
NP_852480.1:p.Ser272Thr
65/6213 0.00523 1 Likely pathogenic
View 13 52548491 52548491 G > A ATP7B ATP7B 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
1/8223 6.0e-05 1 Likely pathogenic
View 13 100953719 100953719 G > T PCCA PCCA 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
1/8004 0.00012 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
2/6213 0.00016 1 Likely pathogenic
View 14 23894999 23894999 G > T MYH7 NM_000257.2:c.2191C>A
NP_000248.2:p.Pro731Thr
1/6213 8.0e-05 1 Likely pathogenic
View 14 58895075 58895076 - > C KIAA0586 KIAA0586 KIAA0586 KIAA0586 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
3/6174 0.00024 1 Likely pathogenic
View 14 68234545 68234554 GAGCTGTCTA > - ZFYVE26 ENST00000347230.4:c.5657_5666del
ENSP00000251119.5:p.Leu1886ProfsTer12
2/6213 0.00016 2 frameshift Likely pathogenic
View 14 74531982 74531982 G > - ALDH6A1 BBOF1 ALDH6A1 ALDH6A1 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
2/6435 0.00016 2 frameshift Likely pathogenic
View 14 88407758 88407759 - > T GALC GALC ENST00000393569.2:c.1736dupA
ENST00000261304.2:c.1814dupA
ENSP00000377199.2:p.Tyr579Ter
ENSP00000261304.2:p.Tyr605Ter
2/8004 0.00012 2 premature_stop Likely pathogenic
View 15 40917591 40917592 - > T KNL1 KNL1 NM_144508.4:c.5130dupT
NM_170589.4:c.5208dupT
NP_653091.3:p.Ile1711TyrfsTer3
NP_733468.3:p.Ile1737TyrfsTer3
2/6213 0.00016 2 frameshift Likely pathogenic
View 15 57526310 57526310 G > A TCF12 TCF12 TCF12 TCF12 TCF12 NM_207037.1:c.1035+5G>A
NM_207036.1:c.1035+5G>A
NM_207040.1:c.525+5G>A
NM_003205.3:c.1035+5G>A
NM_207038.1:c.1035+5G>A
1/6213 8.0e-05 2 five_prime_flank Likely pathogenic
View 15 72978570 72978570 T > C BBS4 BBS4 BBS4 NR_045566.1:n.51T>C
NR_045565.1:n.51T>C
ENST00000268057.4:c.2T>C
ENSP00000268057.4:p.Met1?
2/6213 0.00016 2 loss_of_initiation Likely pathogenic
View 15 89872286 89872286 A > C POLG POLG NM_002693.2:c.911T>G
NM_001126131.1:c.911T>G
NP_002684.1:p.Leu304Arg
NP_001119603.1:p.Leu304Arg
1/8004 6.0e-05 1 Likely pathogenic
View 15 91550240 91550240 C > A VPS33B NM_018668.3:c.640G>T
NP_061138.3:p.Glu214Ter
1/8004 6.0e-05 2 premature_stop Likely pathogenic
View 15 101120526 101120526 A > - LINS1 ENST00000314742.8:c.431del
ENSP00000318423.8:p.Leu144TyrfsTer17
3/6213 0.00024 2 frameshift Likely pathogenic
Displaying 1 through 50 of 180 variants