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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
3/6075 0.00025 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
1/4281 0.00012 1 non_synonymous 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
1/4281 0.00012 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
1/4281 0.00012 3 non_synonymous Likely pathogenic
View 1 228345476 228345476 G > A GJC2 NM_020435.3:c.17G>A
NP_065168.2:p.Trp6Ter
2/6075 0.00016 2 premature_stop Likely pathogenic
View 10 73767841 73767841 C > T CHST3 NM_004273.4:c.1052C>T
NP_004264.2:p.Ser351Phe
3/4281 0.00047 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
4/4281 0.00047 2 five_prime_flank Likely pathogenic
View 10 135180494 135180494 G > A ECHS1 NM_004092.3:c.518C>T
NP_004083.3:p.Ala173Val
7/4281 0.00105 2 non_synonymous Likely pathogenic
View 11 36596859 36596859 G > A RAG1 ENST00000299440.5:c.2005G>A
ENSP00000299440.5:p.Glu669Lys
1/6075 8.0e-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
3/4281 0.00035 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
2/4281 0.00023 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
1/4281 0.00012 2 acceptor_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
1/4281 0.00012 1 frameshift Likely pathogenic
View 12 49449106 49449106 A > G KMT2D NM_003482.3:c.2T>C
NP_003473.3:p.Met1?
2/4281 0.00023 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
1/4281 0.00012 3 non_synonymous Likely pathogenic
View 12 116435014 116435014 A > T MED13L NM_015335.4:c.2591T>A
NP_056150.1:p.Met864Lys
1/4281 0.00012 1 non_synonymous 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
1/6075 0.00016 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
1/4281 0.00012 1 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
1/4281 0.00012 2 five_prime_flank Likely pathogenic
View 15 89873337 89873337 T > A POLG NM_002693.2:c.830A>T
NM_001126131.1:c.830A>T
NP_002684.1:p.His277Leu
NP_001119603.1:p.His277Leu
5/6075 0.00041 1 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
1/4281 0.00012 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
1/4281 0.00012 2 non_synonymous Likely pathogenic
View 16 14022053 14022053 T > - ERCC4 NM_005236.2:c.755del
NP_005227.1:p.Leu252TyrfsTer3
2/6075 0.00016 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
4/4281 0.00047 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
1/6075 8.0e-05 2 premature_stop Likely pathogenic
View 16 56388883 56388883 A > G GNAO1 NM_020988.2:c.983A>G
NP_066268.1:p.Asp328Gly
1/4281 0.00012 1 non_synonymous Likely pathogenic
View 16 56530925 56530925 G > A BBS2 ENST00000245157.5:c.1864C>T
ENSP00000245157.5:p.Arg622Ter
1/4281 0.00012 1 Likely pathogenic
View 16 88873798 88873798 G > A CDT1 NM_030928.3:c.1385G>A
NP_112190.2:p.Arg462Gln
1/4281 0.00012 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
3/4281 0.00035 3 non_synonymous 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
2/6075 0.00016 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
2/6075 0.00016 1 non_synonymous Likely pathogenic
View 17 34893565 34893568 TGTT > - PIGW NM_178517.3:c.617_620del
NP_848612.2:p.Val206GlyfsTer3
3/4281 0.00035 2 frameshift Likely pathogenic
View 17 37844236 37844236 A > - PGAP3 NM_033419.3:c.32del
NP_219487.3:p.Leu11GlnfsTer36
1/4281 0.00023 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
1/4281 0.00012 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
1/6075 8.0e-05 2 premature_stop Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/4470 0.00022 1 in_frame_indel Likely pathogenic
View 17 73953546 73953546 C > T ACOX1 NM_007292.5:c.532G>A
NM_001185039.1:c.418G>A
NM_004035.6:c.532G>A
NP_009223.2:p.Gly178Ser
NP_001171968.1:p.Gly140Ser
NP_004026.2:p.Gly178Ser
1/6075 8.0e-05 1 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/4281 0.00023 1 Likely pathogenic
View 19 41928258 41928258 A > G BCKDHA NM_001164783.1:c.836A>G
NM_000709.3:c.836A>G
NP_001158255.1:p.Tyr279Cys
NP_000700.1:p.Tyr279Cys
1/6075 8.0e-05 1 non_synonymous Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/4281 0.00023 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L NM_015025.2:c.1700G>A
NP_055840.2:p.Arg567Gln
1/4281 0.00012 1 non_synonymous Likely pathogenic
View 2 32353512 32353512 C > - SPAST NM_014946.3:c.1209del
NM_199436.1:c.1113del
NP_055761.2:p.Phe404LeufsTer3
NP_955468.1:p.Phe372LeufsTer3
2/4281 0.00023 2 frameshift Likely pathogenic
View 2 166915128 166915128 G > A SCN1A NM_001165964.1:c.335C>T
NM_001202435.1:c.335C>T
NM_001165963.1:c.335C>T
NM_006920.4:c.335C>T
NP_001159436.1:p.Thr112Ile
NP_001189364.1:p.Thr112Ile
NP_001159435.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
1/4281 0.00012 1 Likely pathogenic
View 2 197081790 197081790 C > T HECW2 NM_020760.1:c.4436G>A
NP_065811.1:p.Arg1479Gln
1/4281 0.00012 1 non_synonymous Likely pathogenic
View 2 241810850 241810850 G > A AGXT NM_000030.2:c.508G>A
NP_000021.1:p.Gly170Arg
7/4281 0.00082 1 Likely pathogenic
View 20 32880181 32880181 T > C AHCY NM_001161766.1:c.344A>G
NM_000687.2:c.428A>G
NP_001155238.1:p.Tyr115Cys
NP_000678.1:p.Tyr143Cys
7/4281 0.00082 1 Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/4281 0.00012 2 premature_stop Likely pathogenic
View 20 62044927 62044927 G > A KCNQ2 NM_172106.1:c.1585C>T
NM_172108.3:c.1546C>T
NM_172107.2:c.1639C>T
NM_004518.4:c.1555C>T
NP_742104.1:p.Arg529Trp
NP_742106.1:p.Arg516Trp
NP_742105.1:p.Arg547Trp
NP_004509.2:p.Arg519Trp
1/4281 0.00012 1 Likely pathogenic
View 22 31013475 31013475 G > T TCN2 NM_000355.3:c.1099G>T
NM_001184726.1:c.1018G>T
NP_000346.2:p.Gly367Ter
NP_001171655.1:p.Gly340Ter
1/4281 0.00012 2 premature_stop Likely pathogenic
View 22 40761034 40761034 T > C ADSL NM_000026.2:c.1342T>C
NM_001123378.1:c.1191+665T>C
NP_000017.1:p.Ser448Pro
4/4281 0.00047 1 Likely pathogenic
Displaying 1 through 50 of 87 variants