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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 3 49059888 49059889 - > A NDUFAF3 NDUFAF3 NDUFAF3 NDUFAF3 NM_199070.1:c.17dupA
NM_199074.1:c.17dupA
NM_199073.1:c.17dupA
NM_199069.1:c.188dupA
NP_951033.1:p.Tyr6Ter
NP_951056.1:p.Tyr6Ter
NP_951047.1:p.Tyr6Ter
NP_951032.1:p.Tyr63Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 3 49142049 49142049 C > A QARS QARS QARS NM_005051.2:c.117+1G>T
NM_001272073.1:c.117+1G>T
NR_073590.1:n.513+1G>T
1/8685 6.0e-05 2 donor_site Likely pathogenic
View 3 57232868 57232868 G > T HESX1 NM_003865.2:c.270C>A
NP_003856.1:p.Tyr90Ter
1/10521 5.0e-05 2 premature_stop Likely pathogenic
View 3 58092454 58092454 C > T FLNB FLNB FLNB FLNB NM_001164319.1:c.1795C>T
NM_001164317.1:c.1795C>T
NM_001164318.1:c.1795C>T
NM_001457.3:c.1795C>T
NP_001157791.1:p.Gln599Ter
NP_001157789.1:p.Gln599Ter
NP_001157790.1:p.Gln599Ter
NP_001448.2:p.Gln599Ter
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 3 58134054 58134055 - > C FLNB FLNB FLNB FLNB NM_001164319.1:c.5781dupC
NM_001164317.1:c.5946dupC
NM_001164318.1:c.5820dupC
NM_001457.3:c.5853dupC
NP_001157791.1:p.Cys1928LeufsTer50
NP_001157789.1:p.Cys1983LeufsTer50
NP_001157790.1:p.Cys1941LeufsTer50
NP_001448.2:p.Cys1952LeufsTer50
2/8685 0.00012 2 frameshift Likely pathogenic
View 3 66312514 66312514 C > T SLC25A26 SLC25A26 SLC25A26 NR_028475.1:n.536C>T
NM_001164796.1:c.76C>T
NM_173471.3:c.340C>T
NP_001158268.1:p.Gln26Ter
NP_775742.4:p.Gln114Ter
2/8646 0.00012 2 premature_stop Likely pathogenic
View 3 71019871 71019871 C > T FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 FOXP1 NM_001244816.1:c.1722+16G>A
NM_001244815.1:c.1728+16G>A
NM_001244814.1:c.1722+16G>A
NM_001244813.1:c.1422+16G>A
NM_001244812.1:c.1494+16G>A
NM_001244810.1:c.1770+16G>A
NM_001244808.1:c.1719+16G>A
NM_032682.5:c.1722+16G>A
30/8646 0.00173 4 five_prime_intronic Likely pathogenic
View 3 148903162 148903162 G > A CP CP ENST00000264613.6:c.2149C>T
NR_046371.1:n.2189C>T
ENSP00000264613.6:p.Gln717Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 3 180706018 180706018 C > T DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 NR_033722.1:n.176-1G>A
NR_033721.1:n.176-134G>A
NR_046073.1:n.175+1370G>A
NM_145261.3:c.4-1G>A
NR_033723.1:n.176-1G>A
NM_001190233.1:c.-72-1G>A
4/10521 0.00019 2 acceptor_site Likely pathogenic
View 4 3495166 3495166 C > - DOK7 DOK7 DOK7 ENST00000507039.1:c.*678del
NM_001256896.1:c.527del
ENST00000340083.5:c.1457del
NP_001243825.1:p.Pro176ArgfsTer15
ENSP00000344432.5:p.Pro486ArgfsTer15
3/9384 0.00016 2 frameshift Likely pathogenic
View 4 6279306 6279306 C > T WFS1 WFS1 NM_006005.3:c.124C>T
NM_001145853.1:c.124C>T
NP_005996.2:p.Arg42Ter
NP_001139325.1:p.Arg42Ter
4/8685 0.00023 1 ClinVar pathogenic variant Likely pathogenic
View 4 15480407 15480407 C > T CC2D2A CC2D2A CC2D2A NM_001164720.1:c.100C>T
NM_001080522.2:c.100C>T
NM_020785.2:c.100C>T
NP_001158192.1:p.Arg34Ter
NP_001073991.2:p.Arg34Ter
NP_065836.2:p.Arg34Ter
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 4 103579002 103579003 AC > - MANBA NM_005908.3:c.1540_1541del
NP_005899.3:p.Val514CysfsTer10
3/8685 0.00017 2 frameshift Likely pathogenic
View 4 103586010 103586010 C > A MANBA NM_005908.3:c.1318-1G>T
3/8685 0.00017 2 acceptor_site Likely pathogenic
View 4 107157915 107157915 C > T TBCK TBCK TBCK TBCK ENST00000394706.3:c.1103+1G>A
ENST00000394708.2:c.1220+1G>A
ENST00000432496.2:c.1220+1G>A
ENST00000361687.4:c.1031+1G>A
2/8685 0.00012 2 donor_site Likely pathogenic
View 4 107249367 107249371 GAAAA > - AIMP1 AIMP1 AIMP1 NM_004757.3:c.362_366del
NM_001142415.1:c.362_366del
NM_001142416.1:c.434_438del
NP_004748.2:p.Lys121SerfsTer6
NP_001135887.1:p.Lys121SerfsTer6
NP_001135888.1:p.Lys145SerfsTer6
2/8685 0.00012 2 frameshift Likely pathogenic
View 4 108852776 108852807 del > - CYP2U1 NM_183075.2:c.-24_8del
2/8685 0.00012 2 loss_of_initiation Likely pathogenic
View 4 113568112 113568112 G > T LARP7 LARP7 LARP7 LARP7 NM_016648.3:c.552+1G>T
NM_015454.2:c.552+1G>T
NR_049768.1:n.727+1G>T
NM_001267039.1:c.573+1G>T
2/8685 0.00012 2 donor_site Likely pathogenic
View 4 113570753 113570754 - > A LARP7 LARP7 LARP7 LARP7 NM_016648.3:c.1213dupA
NM_015454.2:c.1213dupA
NR_049768.1:n.1388dupA
NM_001267039.1:c.1234dupA
NP_057732.2:p.Thr405AsnfsTer26
NP_056269.1:p.Thr405AsnfsTer26
NP_001253968.1:p.Thr412AsnfsTer26
2/8685 0.00012 2 frameshift Likely pathogenic
View 4 114257034 114257034 C > T ANK2 ANK2 ANK2 NM_020977.3:c.3412C>T
NM_001127493.1:c.3385C>T
NM_001148.4:c.3412C>T
NP_066187.2:p.Arg1138Ter
NP_001120965.1:p.Arg1129Ter
NP_001139.3:p.Arg1138Ter
2/8685 0.00012 1 Likely pathogenic
View 4 123226130 123226130 A > - KIAA1109 NM_015312.3:c.9666del
NP_056127.2:p.Lys3222AsnfsTer24
4/8685 0.00023 2 frameshift Likely pathogenic
View 4 123855729 123855731 CAA > - SPATA5 NM_145207.2:c.989_991del
NP_660208.2:p.Thr330del
3/8646 0.00017 1 Likely pathogenic
View 4 146575151 146575152 - > A MMAA NM_172250.2:c.829dupA
NP_758454.1:p.Arg277LysfsTer14
3/10521 0.00014 2 frameshift Likely pathogenic
View 5 37180188 37180189 CA > - CPLANE1 NM_023073.3:c.5667_5668del
NP_075561.3:p.Asp1890Ter
2/8685 0.00012 2 frameshift Likely pathogenic
View 5 37201863 37201863 C > A CPLANE1 NM_023073.3:c.3337G>T
NP_075561.3:p.Glu1113Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 5 90149131 90149131 T > G ADGRV1 ADGRV1 NM_032119.3:c.17235T>G
NR_003149.1:n.17248T>G
NP_115495.3:p.Tyr5745Ter
3/10521 0.00014 2 premature_stop Likely pathogenic
View 5 98223881 98223881 G > A CHD1 NM_001270.2:c.2407C>T
NP_001261.2:p.Arg803Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 5 131705800 131705800 C > T SLC22A5 NM_003060.3:c.136C>T
NP_003051.1:p.Pro46Ser
23/10773 0.00107 1 Likely pathogenic
View 5 137762924 137762924 C > T KDM3B ENST00000314358.5:c.4549C>T
ENSP00000326563.5:p.Arg1517Ter
1/8646 6.0e-05 2 premature_stop Likely pathogenic
View 5 140025247 140025247 C > - NDUFA2 NDUFA2 NDUFA2 NR_033697.1:n.547del
NM_001185012.1:c.*41del
NM_002488.4:c.225del
NP_002479.1:p.Asn76MetfsTer4
2/8685 0.00012 1 Likely pathogenic
View 5 140954700 140954700 A > - DIAPH1 DIAPH1 NM_001079812.2:c.1448del
NM_005219.4:c.1475del
NP_001073280.1:p.Leu483Ter
NP_005210.3:p.Leu492Ter
2/8685 0.00012 2 frameshift Likely pathogenic
View 5 145562053 145562053 C > - LARS NM_020117.9:c.4del
NP_064502.9:p.Ala2ArgfsTer12
2/8685 0.00012 2 frameshift Likely pathogenic
View 5 151239449 151239449 C > T GLRA1 GLRA1 NM_000171.3:c.373G>A
NM_001146040.1:c.373G>A
NP_000162.2:p.Asp125Asn
NP_001139512.1:p.Asp125Asn
2/8685 0.00012 2 non_synonymous Likely pathogenic
View 5 156752534 156752534 G > A CYFIP2 CYFIP2 CYFIP2 NM_001037332.2:c.1870G>A
NM_001037333.1:c.1870G>A
NM_014376.2:c.1870G>A
NP_001032409.2:p.Glu624Lys
NP_001032410.1:p.Glu624Lys
NP_055191.2:p.Glu624Lys
1/8646 6.0e-05 2 non_synonymous Likely pathogenic
View 5 176684104 176684104 T > A NSD1 NSD1 NM_172349.2:c.4111T>A
NM_022455.4:c.4918T>A
NP_758859.1:p.Cys1371Ser
NP_071900.2:p.Cys1640Ser
1/9384 5.0e-05 2 non_synonymous Likely pathogenic
View 6 7580621 7580621 C > T DSP DSP ENST00000379802.3:c.4198C>T
ENST00000418664.2:c.3582+616C>T
ENSP00000369129.3:p.Arg1400Ter
2/10521 0.0001 1 Likely pathogenic
View 6 30691372 30691372 C > G TUBB NM_178014.2:c.533C>G
NP_821133.1:p.Thr178Ser
1/8685 6.0e-05 1 non_synonymous Likely pathogenic
View 6 42935188 42935188 C > T PEX6 NM_000287.3:c.1802G>A
NP_000278.3:p.Arg601Gln
52/8685 0.00299 2 Likely pathogenic
View 6 42937486 42937486 G > - PEX6 NM_000287.3:c.1287del
NP_000278.3:p.Trp430GlyfsTer20
2/8685 0.00012 2 frameshift Likely pathogenic
View 6 73751701 73751701 C > T KCNQ5 KCNQ5 KCNQ5 KCNQ5 KCNQ5 NM_001160130.1:c.532C>T
NM_019842.3:c.532C>T
NM_001160132.1:c.532C>T
NM_001160134.1:c.532C>T
NM_001160133.1:c.532C>T
NP_001153602.1:p.Arg178Ter
NP_062816.2:p.Arg178Ter
NP_001153604.1:p.Arg178Ter
NP_001153606.1:p.Arg178Ter
NP_001153605.1:p.Arg178Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 6 74191826 74191826 C > T MTO1 MTO1 MTO1 NM_133645.2:c.1399C>T
NM_001123226.1:c.1444C>T
NM_012123.3:c.1324C>T
NP_598400.1:p.Arg467Ter
NP_001116698.1:p.Arg482Ter
NP_036255.2:p.Arg442Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 6 74191932 74191932 G > A MTO1 MTO1 MTO1 NM_133645.2:c.1505G>A
NM_001123226.1:c.1550G>A
NM_012123.3:c.1430G>A
NP_598400.1:p.Arg502His
NP_001116698.1:p.Arg517His
NP_036255.2:p.Arg477His
2/8685 0.00012 1 Likely pathogenic
View 6 86246509 86246509 C > G SNX14 SNX14 NM_153816.3:c.1608+1G>C
NM_020468.3:c.1449+1G>C
5/8685 0.00029 2 donor_site Likely pathogenic
View 6 99323430 99323447 GCTGCTCTGCAGAGTTGG > - FBXL4 FBXL4 FBXL4 NM_012160.4:c.1546_1563del
NR_103836.1:n.1591_1608del
NM_001278716.1:c.1546_1563del
NP_036292.2:p.Pro516_Ser521del
NP_001265645.1:p.Pro516_Ser521del
2/8685 0.00012 1 Likely pathogenic
View 6 99323549 99323549 G > A FBXL4 FBXL4 FBXL4 NM_012160.4:c.1444C>T
NR_103836.1:n.1489C>T
NM_001278716.1:c.1444C>T
NP_036292.2:p.Arg482Trp
NP_001265645.1:p.Arg482Trp
3/8685 0.00017 1 Likely pathogenic
View 6 99323552 99323553 - > T FBXL4 FBXL4 FBXL4 NM_012160.4:c.1440dupA
NR_103836.1:n.1485dupA
NM_001278716.1:c.1440dupA
NP_036292.2:p.Leu481ThrfsTer10
NP_001265645.1:p.Leu481ThrfsTer10
2/8685 0.00012 2 frameshift Likely pathogenic
View 6 105564658 105564661 AAGA > - BVES BVES BVES NM_001199563.1:c.731_734del
NM_147147.3:c.731_734del
NM_007073.4:c.731_734del
NP_001186492.1:p.Phe244CysfsTer20
NP_671488.1:p.Phe244CysfsTer20
NP_009004.2:p.Phe244CysfsTer20
1/8685 6.0e-05 2 frameshift Likely pathogenic
View 6 121768709 121768709 G > A GJA1 NM_000165.3:c.716G>A
NP_000156.1:p.Arg239Gln
1/8685 6.0e-05 1 Likely pathogenic
View 6 131923522 131923522 C > T MED23 MED23 MED23 MED23 NM_004830.3:c.1932-1G>A
NM_001270521.1:c.1932-1G>A
NM_001270522.1:c.1932-1G>A
NM_015979.3:c.1950-1G>A
2/8685 0.00012 2 acceptor_site Likely pathogenic
View 6 132211480 132211480 G > A ENPP1 NM_006208.2:c.2608-1G>A
1/10521 5.0e-05 2 acceptor_site Likely pathogenic
Displaying 200 through 250 of 307 variants