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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
3/10521 0.00014 2 Likely pathogenic
View 1 3319395 3319395 C > - PRDM16 PRDM16 NM_199454.2:c.718del
NM_022114.3:c.718del
NP_955533.2:p.Gln240SerfsTer104
NP_071397.3:p.Gln240SerfsTer104
2/8685 0.00012 2 frameshift 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
1/8685 6.0e-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
2/8685 0.00012 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
1/8685 6.0e-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
2/10521 0.0001 2 premature_stop Likely pathogenic
View 1 23383989 23383989 G > T TRNAN-GUU KDM1A KDM1A NM_015013.3:c.943G>T
NM_001009999.2:c.1003G>T
NP_055828.2:p.Gly315Ter
NP_001009999.1:p.Gly335Ter
1/8685 6.0e-05 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
6/8685 0.00035 4 non_synonymous Likely pathogenic
View 1 27876868 27876868 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.1759C>T
NP_001025053.1:p.Arg587Ter
1/8685 6.0e-05 1 ClinVar pathogenic variant 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
4/8685 0.00023 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
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 1 70505111 70505111 C > T TRNAN-GUU LRRC7 NM_020794.2:c.3490C>T
NP_065845.1:p.Gln1164Ter
1/8646 6.0e-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
2/8685 0.00012 2 premature_stop Likely pathogenic
View 1 120302490 120302490 G > A TRNAN-GUU HMGCS2 HMGCS2 NM_001166107.1:c.560-585C>T
NM_005518.3:c.682C>T
NP_005509.1:p.Arg228Ter
4/8685 0.00023 2 premature_stop Likely pathogenic
View 1 151377927 151377927 T > - POGZ POGZ POGZ POGZ POGZ NM_207171.2:c.3425del
NM_001194937.1:c.3557del
NM_001194938.1:c.3398del
NM_015100.3:c.3584del
NM_145796.3:c.3299del
NP_997054.1:p.Lys1142ArgfsTer33
NP_001181866.1:p.Lys1186ArgfsTer33
NP_001181867.1:p.Lys1133ArgfsTer33
NP_055915.2:p.Lys1195ArgfsTer33
NP_665739.3:p.Lys1100ArgfsTer33
1/8685 6.0e-05 2 frameshift Likely pathogenic
View 1 155630146 155630146 A > - YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 NM_001198901.1:c.1555del
NM_001198902.1:c.1555del
NM_001198900.1:c.1522del
NM_018253.3:c.1522del
NM_001198899.1:c.1522del
NM_139119.2:c.1555del
NM_139118.2:c.1693del
NM_001198905.1:c.1495del
NM_001198906.1:c.*498del
NM_139121.2:c.1357del
NM_001198903.1:c.1969del
NM_001198904.1:c.1909del
NP_001185830.1:p.Ser519ProfsTer8
NP_001185831.1:p.Ser519ProfsTer8
NP_001185829.1:p.Ser508ProfsTer8
NP_060723.2:p.Ser508ProfsTer8
NP_001185828.1:p.Ser508ProfsTer8
NP_620830.1:p.Ser519ProfsTer8
NP_620829.1:p.Ser565ProfsTer8
NP_001185834.1:p.Ser499ProfsTer8
NP_620832.1:p.Ser453ProfsTer8
NP_001185832.1:p.Ser657ProfsTer8
NP_001185833.1:p.Ser637ProfsTer8
2/8646 0.00012 2 frameshift Likely pathogenic
View 1 158614992 158614992 A > - SPTA1 NM_003126.2:c.4180del
NP_003117.2:p.Cys1394AlafsTer25
2/8685 0.00012 2 frameshift Likely pathogenic
View 1 158641123 158641124 - > ATTTCTTACT SPTA1 NM_003126.2:c.1599_1599+9dupAGTAAGAAAT
1/8685 6.0e-05 1 five_prime_intronic Likely pathogenic
View 1 160105629 160105629 G > C ATP1A2 NM_000702.3:c.2285G>C
NP_000693.1:p.Gly762Ala
2/8685 0.00012 2 non_synonymous Likely pathogenic
View 1 197072197 197072198 TC > - ASPM ASPM NM_001206846.1:c.4066-6904_4066-6903del
NM_018136.4:c.6183_6184del
NP_060606.3:p.Lys2062IlefsTer5
1/8685 6.0e-05 1 ClinVar pathogenic variant 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
2/8685 0.00012 2 premature_stop Likely pathogenic
View 1 202722108 202722109 AA > - KDM5B NM_006618.3:c.1625_1626del
NP_006609.3:p.Phe542CysfsTer23
1/8685 6.0e-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
1/8685 6.0e-05 3 non_synonymous Likely pathogenic
View 1 214791966 214791967 TC > - CENPF NM_016343.3:c.415_416del
NP_057427.3:p.Leu139GlufsTer21
2/8646 0.00012 2 frameshift Likely pathogenic
View 1 214813306 214813306 A > - CENPF NM_016343.3:c.1630del
NP_057427.3:p.Ile544Ter
2/8646 0.00012 2 frameshift Likely pathogenic
View 1 214815852 214815852 G > T CENPF NM_016343.3:c.4171G>T
NP_057427.3:p.Glu1391Ter
4/8646 0.00023 2 premature_stop Likely pathogenic
View 1 226109695 226109696 AC > - PYCR2 PYCR2 NM_001271681.1:c.318+208_318+209del
NM_013328.3:c.402_403del
NP_037460.2:p.Tyr135ArgfsTer26
2/8685 0.00012 2 frameshift Likely pathogenic
View 1 228345476 228345476 G > A GJC2 NM_020435.3:c.17G>A
NP_065168.2:p.Trp6Ter
2/10521 0.0001 2 premature_stop Likely pathogenic
View 1 231114941 231114941 C > A ARV1 NM_022786.1:c.90C>A
NP_073623.1:p.Cys30Ter
3/8685 0.00023 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
1/8685 6.0e-05 2 non_synonymous Likely pathogenic
View 10 48390590 48390590 G > - RBP3 NM_002900.2:c.288del
NP_002891.1:p.Glu97SerfsTer48
2/8685 0.00012 2 frameshift 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
1/8685 6.0e-05 2 frameshift Likely pathogenic
View 10 73767841 73767841 C > T CHST3 NM_004273.4:c.1052C>T
NP_004264.2:p.Ser351Phe
3/8939 0.00022 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
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 10 79761985 79761991 GGCTGTT > - POLR3A NM_007055.3:c.2323_2329del
NP_008986.2:p.Asn775ProfsTer19
3/8685 0.00017 2 frameshift Likely pathogenic
View 10 94409684 94409684 C > T KIF11 NM_004523.3:c.2863C>T
NP_004514.2:p.Gln955Ter
2/8685 0.00012 1 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
5/8685 0.00029 2 five_prime_flank Likely pathogenic
View 10 135180494 135180494 G > A ECHS1 NM_004092.3:c.518C>T
NP_004083.3:p.Ala173Val
8/8685 0.00058 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
4/10521 0.00019 2 premature_stop Likely pathogenic
View 11 17596437 17596437 C > T OTOG NM_001277269.1:c.2500C>T
NP_001264198.1:p.Gln834Ter
12/8676 0.00069 2 premature_stop Likely pathogenic
View 11 22239825 22239825 C > T ANO5 ANO5 NM_213599.2:c.172C>T
NM_001142649.1:c.169C>T
NP_998764.1:p.Arg58Trp
NP_001136121.1:p.Arg57Trp
5/8685 0.00029 1 Likely pathogenic
View 11 36596859 36596859 G > A RAG1 ENST00000299440.5:c.2005G>A
ENSP00000299440.5:p.Glu669Lys
1/10521 5.0e-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
3/8685 0.00017 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
2/8685 0.00012 2 non_synonymous Likely pathogenic
View 11 67377861 67377861 C > T NDUFV1 NDUFV1 NM_007103.3:c.520C>T
NM_001166102.1:c.493C>T
NP_009034.2:p.Arg174Ter
NP_001159574.1:p.Arg165Ter
3/10521 0.00014 2 premature_stop Likely pathogenic
View 11 76924904 76924904 G > A MYO7A MYO7A NM_000260.3:c.6439-1G>A
NM_001127180.1:c.6319-1G>A
1/10521 5.0e-05 1 Likely pathogenic
View 11 85347215 85347215 G > T TMEM126B TMEM126B TMEM126B TMEM126B TMEM126B NM_018480.4:c.635G>T
NM_001193538.2:c.545G>T
NM_001193537.2:c.575G>T
NM_001256546.1:c.545G>T
NM_001256547.1:c.497G>T
NP_060950.3:p.Gly212Val
NP_001180467.1:p.Gly182Val
NP_001180466.1:p.Gly192Val
NP_001243475.1:p.Gly182Val
NP_001243476.1:p.Gly166Val
13/8646 0.00075 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
1/8646 6.0e-05 2 acceptor_site Likely pathogenic
View 11 89028352 89028352 C > T TYR NM_000372.4:c.1408C>T
NP_000363.1:p.Gln470Ter
2/8685 0.00012 2 premature_stop 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
2/8685 0.00012 2 donor_site Likely pathogenic
Displaying 1 through 50 of 307 variants