Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 2236001 2236001 C > T SKI NM_003036.3:c.1744C>T
NP_003027.1:p.Gln582Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
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
3/14969 0.0001 2 curation 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
2/13144 8.0e-05 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
1/13144 4.0e-05 1 curation 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
5/13144 0.00019 1 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
1/11983 4.0e-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
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 1 22408239 22408239 G > T TRNAN-GUU CDC42 CDC42 CDC42 NM_001039802.1:c.130G>T
NM_044472.2:c.130G>T
NM_001791.3:c.130G>T
NP_001034891.1:p.Val44Phe
NP_426359.1:p.Val44Phe
NP_001782.1:p.Val44Phe
2/13144 8.0e-05 3 non_synonymous 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
1/13144 4.0e-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
7/13144 0.00027 4 curation Likely pathogenic
View 1 27876868 27876868 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.1759C>T
NP_001025053.1:p.Arg587Ter
1/13144 4.0e-05 1 Likely pathogenic
View 1 40318515 40318515 G > A TRNAN-GUU TRIT1 NM_017646.4:c.448C>T
NP_060116.2:p.Arg150Ter
2/13144 8.0e-05 2 premature_stop 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
4/13144 0.00015 1 Likely pathogenic
View 1 62979504 62979504 C > T DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.3909G>A
NM_001271999.1:c.4002G>A
NM_033407.3:c.3909G>A
NM_001272001.1:c.3909G>A
NP_001258929.1:p.Trp1303Ter
NP_001258928.1:p.Trp1334Ter
NP_212132.2:p.Trp1303Ter
NP_001258930.1:p.Trp1303Ter
1/13144 4.0e-05 2 premature_stop 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
1/13144 4.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 1 64095162 64095162 A > T PGM1 TRNAN-GUU PGM1 PGM1 NM_001172818.1:c.367A>T
NM_002633.2:c.313A>T
NM_001172819.1:c.-279A>T
NP_001166289.1:p.Lys123Ter
NP_002624.2:p.Lys105Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 1 97839117 97839132 CTGCCCACAGGCCAGG > - DPYD TRNAN-GUU ENST00000370192.3:c.2043_2058del
ENSP00000359211.3:p.Leu682IlefsTer24
3/15597 0.0001 1 Likely pathogenic
View 1 100459183 100459183 C > T SLC35A3 SLC35A3 TRNAN-GUU SLC35A3 NM_001271684.1:c.73C>T
NM_001271685.1:c.199C>T
NM_012243.2:c.73C>T
NP_001258613.1:p.Arg25Cys
NP_001258614.1:p.Arg67Cys
NP_036375.1:p.Arg25Cys
5/13144 0.00019 1 Likely pathogenic
View 1 109461364 109461364 C > T TRNAN-GUU GPSM2 NM_013296.4:c.1393C>T
NP_037428.3:p.Gln465Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 1 113637098 113637098 A > - TRNAN-GUU LRIG2 ENST00000361127.5:c.654del
ENSP00000355396.4:p.Gln218HisfsTer24
2/13144 8.0e-05 2 frameshift 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
4/13144 0.00015 2 premature_stop Likely pathogenic
View 1 149895541 149895541 G > A SF3B4 NM_005850.4:c.1168C>T
NP_005841.1:p.Arg390Ter
1/13144 4.0e-05 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
1/13144 4.0e-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
2/13105 8.0e-05 2 frameshift Likely pathogenic
View 1 158614992 158614992 A > - SPTA1 NM_003126.2:c.4180del
NP_003117.2:p.Cys1394AlafsTer25
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 1 158641123 158641124 - > ATTTCTTACT SPTA1 NM_003126.2:c.1599_1599+9dupAGTAAGAAAT
1/11983 4.0e-05 1 curation Likely pathogenic
View 1 158653202 158653202 C > A SPTA1 NM_003126.2:c.349G>T
NP_003117.2:p.Glu117Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 1 160105629 160105629 G > C ATP1A2 NM_000702.3:c.2285G>C
NP_000693.1:p.Gly762Ala
2/13144 8.0e-05 2 curation Likely pathogenic
View 1 161277141 161277152 GGTCACCCGGGA > - MPZ NM_000530.6:c.130_141del
NP_000521.2:p.Ser44_Thr47del
1/14969 3.0e-05 1 in_frame_indel 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
1/13144 4.0e-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
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 1 202722108 202722109 AA > - KDM5B NM_006618.3:c.1625_1626del
NP_006609.3:p.Phe542CysfsTer23
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 1 207644245 207644245 T > - CR2 CR2 NM_001877.4:c.1386del
NM_001006658.2:c.1386del
NP_001868.2:p.Val463TyrfsTer17
NP_001006659.1:p.Val463TyrfsTer17
1/13144 4.0e-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
1/13144 4.0e-05 3 non_synonymous Likely pathogenic
View 1 214791966 214791967 TC > - CENPF NM_016343.3:c.415_416del
NP_057427.3:p.Leu139GlufsTer21
5/13105 0.00019 2 frameshift Likely pathogenic
View 1 214813306 214813306 A > - CENPF NM_016343.3:c.1630del
NP_057427.3:p.Ile544Ter
2/13105 8.0e-05 2 frameshift Likely pathogenic
View 1 214815852 214815852 G > T CENPF NM_016343.3:c.4171G>T
NP_057427.3:p.Glu1391Ter
4/13105 0.00015 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
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 1 228345476 228345476 G > A GJC2 NM_020435.3:c.17G>A
NP_065168.2:p.Trp6Ter
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 1 229567376 229567376 G > C ACTA1 NM_001100.3:c.1004C>G
NP_001091.1:p.Pro335Arg
1/13144 4.0e-05 1 non_synonymous Likely pathogenic
View 1 231114941 231114941 C > A ARV1 NM_022786.1:c.90C>A
NP_073623.1:p.Cys30Ter
3/13144 0.00015 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
1/13144 4.0e-05 2 curation Likely pathogenic
View 10 225977 225977 C > T ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 NM_001202468.1:c.25C>T
NM_001202467.1:c.25C>T
NM_001202466.1:c.25C>T
NM_001202465.1:c.25C>T
NM_001202464.1:c.25C>T
NM_212479.3:c.25C>T
NM_006624.5:c.25C>T
NP_001189397.1:p.Gln9Ter
NP_001189396.1:p.Gln9Ter
NP_001189395.1:p.Gln9Ter
NP_001189394.1:p.Gln9Ter
NP_001189393.1:p.Gln9Ter
NP_997644.2:p.Gln9Ter
NP_006615.2:p.Gln9Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 10 28884769 28884770 CA > - WAC WAC WAC NM_016628.4:c.720_721del
NM_100486.3:c.610+5010_610+5011del
NR_024557.2:n.1194_1195del
NP_057712.2:p.His240GlnfsTer2
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 10 28906653 28906653 T > G WAC WAC WAC NM_016628.4:c.1814T>G
NM_100486.3:c.1505T>G
NR_024557.2:n.2288T>G
NP_057712.2:p.Leu605Ter
NP_567823.1:p.Leu502Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 10 48390590 48390590 G > - RBP3 NM_002900.2:c.288del
NP_002891.1:p.Glu97SerfsTer48
2/13144 8.0e-05 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
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 10 73767841 73767841 C > T CHST3 NM_004273.4:c.1052C>T
NP_004264.2:p.Ser351Phe
3/13585 0.00015 2 curation 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
1/13144 4.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 10 78704596 78704596 G > - KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_002247.3:c.2663del
NM_001014797.2:c.2675del
NM_001271519.1:c.2672del
NM_001271518.1:c.2513del
NM_001161353.1:c.2786del
NM_001161352.1:c.2837del
NP_002238.2:p.Ala888GlyfsTer60
NP_001014797.1:p.Ala892GlyfsTer60
NP_001258448.1:p.Ala891GlyfsTer60
NP_001258447.1:p.Ala838GlyfsTer60
NP_001154825.1:p.Ala929GlyfsTer60
NP_001154824.1:p.Ala946GlyfsTer60
3/13144 0.00011 2 frameshift Likely pathogenic
Displaying 1 through 50 of 530 variants