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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
Displaying 1 through 50 of 201 variants