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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
3/6913 0.00022 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
1/5119 0.0001 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
1/5119 0.0001 2 acceptor_site Likely pathogenic
View 1 21889608 21889608 C > - ALPL TRNAN-GUU ALPL ALPL 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 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
1/5119 0.0001 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
1/5119 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 PAX2 PAX2 PAX2 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 TMEM216 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 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
2/5119 0.0002 2 non_synonymous Likely pathogenic
View 11 86017286 86017286 G > T HIKESHI HIKESHI HIKESHI 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 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_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 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 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 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 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
8/5119 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 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
1/7003 7.0e-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
1/6913 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 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
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 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
2/5211 0.00019 2 frameshift Likely pathogenic
View 15 57526310 57526310 G > A TCF12 TCF12 TCF12 TCF12 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 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 TSC2 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 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 GRIN2A 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 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 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 ACSF3 ACSF3 ACSF3 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 ANKRD11 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 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 ACADVL ACADVL 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 PMP22 PMP22 PMP22 PMP22 PMP22 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 KANSL1 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 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
Displaying 1 through 50 of 137 variants