Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 20 49510578 49510578 G > A ADNP ADNP NM_015339.2:c.673C>T
NM_181442.1:c.673C>T
NP_056154.1:p.Arg225Ter
NP_852107.1:p.Arg225Ter
2/9594 0.0001 2 premature_stop Likely pathogenic
View 20 62044927 62044927 G > A KCNQ2 KCNQ2 KCNQ2 KCNQ2 NM_004518.4:c.1555C>T
NM_172108.3:c.1546C>T
NM_172107.2:c.1639C>T
NM_172106.1:c.1585C>T
NP_004509.2:p.Arg519Trp
NP_742106.1:p.Arg516Trp
NP_742105.1:p.Arg547Trp
NP_742104.1:p.Arg529Trp
1/9594 5.0e-05 1 Likely pathogenic
View 21 47545690 47545690 G > A COL6A2 COL6A2 COL6A2 NM_058174.2:c.1970-9G>A
NM_001849.3:c.1970-9G>A
NM_058175.2:c.1970-9G>A
2/10293 0.0001 1 Likely pathogenic
View 22 18905934 18905934 A > G PRODH PRODH ENST00000357068.6:c.1322T>C
ENST00000334029.2:c.998T>C
ENSP00000349577.6:p.Leu441Pro
ENSP00000334726.2:p.Leu333Pro
127/9594 0.00667 1 Likely pathogenic
View 22 18908937 18908937 C > G PRODH PRODH ENST00000357068.6:c.930-1G>C
ENST00000334029.2:c.606-1G>C
2/9594 0.0001 2 acceptor_site Likely pathogenic
View 22 20783824 20783824 G > A SCARF2 SCARF2 NM_153334.4:c.1423C>T
NM_182895.2:c.1423C>T
NP_699165.2:p.Arg475Ter
NP_878315.1:p.Arg475Trp
2/9594 0.0001 2 premature_stop Likely pathogenic
View 22 21096950 21096950 G > A PI4KA NM_058004.3:c.3559C>T
NP_477352.3:p.Gln1187Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 22 24175859 24175859 A > G SMARCB1 SMARCB1 NM_003073.3:c.1087A>G
NM_001007468.1:c.1060A>G
NP_003064.2:p.Lys363Glu
NP_001007469.1:p.Lys354Glu
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 22 24718329 24718329 C > T SPECC1L SPECC1L-ADORA2A SPECC1L SPECC1L ENST00000541492.1:c.1381C>T
NR_103546.1:n.1689C>T
ENST00000314328.9:c.1381C>T
ENST00000437398.1:c.1381C>T
ENSP00000439633.1:p.Arg461Ter
ENSP00000325785.8:p.Arg461Ter
ENSP00000393363.1:p.Arg461Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 22 24724859 24724862 AAAT > - SPECC1L SPECC1L-ADORA2A SPECC1L SPECC1L ENST00000541492.1:c.2195_2198del
NR_103546.1:n.2503_2506del
ENST00000314328.9:c.2195_2198del
ENST00000437398.1:c.2195_2198del
ENSP00000439633.1:p.Ile732ArgfsTer25
ENSP00000325785.8:p.Ile732ArgfsTer25
ENSP00000393363.1:p.Ile732ArgfsTer25
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 22 31013475 31013475 G > T TCN2 TCN2 NM_000355.3:c.1099G>T
NM_001184726.1:c.1018G>T
NP_000346.2:p.Gly367Ter
NP_001171655.1:p.Gly340Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 22 38129421 38129421 T > C TRIOBP NM_001039141.2:c.4062+2T>C
2/9594 0.0001 2 donor_site Likely pathogenic
View 22 40761034 40761034 T > C ADSL ADSL NM_000026.2:c.1342T>C
NM_001123378.1:c.1191+665T>C
NP_000017.1:p.Ser448Pro
5/9594 0.00026 1 Likely pathogenic
View 22 42457056 42457056 C > T NAGA NM_000262.2:c.973G>A
NP_000253.1:p.Glu325Lys
70/9594 0.0037 1 Likely pathogenic
View 22 50962330 50962330 G > A SCO2 SCO2 NCAPH2 SCO2 SCO2 NCAPH2 NM_001169110.1:c.511C>T
NM_001169111.1:c.511C>T
NM_152299.3:c.*526G>A
NM_001169109.1:c.511C>T
NM_005138.2:c.511C>T
NM_001185011.1:c.*526G>A
NP_001162581.1:p.Arg171Trp
NP_001162582.1:p.Arg171Trp
NP_001162580.1:p.Arg171Trp
NP_005129.2:p.Arg171Trp
2/11422 9.0e-05 1 Likely pathogenic
View 22 51123083 51123083 A > G SHANK3 ENST00000262795.3:c.1030+4A>G
1/9594 5.0e-05 2 five_prime_flank Likely pathogenic
View 22 51137232 51137232 G > T SHANK3 ENST00000262795.3:c.1660+1G>T
1/9594 5.0e-05 2 donor_site Likely pathogenic
View 3 9781036 9781036 G > A BRPF1 BRPF1 NM_001003694.1:c.953G>A
NM_004634.2:c.953G>A
NP_001003694.1:p.Arg318His
NP_004625.2:p.Arg318His
1/9555 5.0e-05 3 non_synonymous Likely pathogenic
View 3 10094113 10094113 C > T FANCD2 FANCD2 NM_033084.3:c.1588C>T
NM_001018115.1:c.1588C>T
NP_149075.2:p.Arg530Ter
NP_001018125.1:p.Arg530Ter
2/9594 0.0001 2 premature_stop Likely pathogenic
View 3 14708384 14708384 G > A CCDC174 NM_016474.4:c.654G>A
NP_057558.3:p.Trp218Ter
2/9555 0.0001 2 premature_stop Likely pathogenic
View 3 15683564 15683564 G > A BTD NM_000060.2:c.459G>A
NP_000051.1:p.Glu153=
1/11422 4.0e-05 1 Likely pathogenic
View 3 24169140 24169140 C > T THRB THRB THRB THRB NM_000461.4:c.994G>A
NM_001128176.2:c.994G>A
NM_001128177.1:c.994G>A
NM_001252634.1:c.994G>A
NP_000452.2:p.Gly332Arg
NP_001121648.1:p.Gly332Arg
NP_001121649.1:p.Gly332Arg
NP_001239563.1:p.Gly332Arg
1/9594 5.0e-05 2 Likely pathogenic
View 3 25770719 25770719 G > A NGLY1 NGLY1 NGLY1 NGLY1 NM_018297.3:c.1516C>T
NM_001145295.1:c.1516C>T
NM_001145293.1:c.1462C>T
NM_001145294.1:c.1390C>T
NP_060767.2:p.Arg506Ter
NP_001138767.1:p.Arg506Ter
NP_001138765.1:p.Arg488Ter
NP_001138766.1:p.Arg464Ter
5/9594 0.00026 2 premature_stop Likely pathogenic
View 3 41266853 41266854 - > C CTNNB1 CTNNB1 CTNNB1 NM_001904.3:c.526dupC
NM_001098209.1:c.526dupC
NM_001098210.1:c.526dupC
NP_001895.1:p.His176ProfsTer5
NP_001091679.1:p.His176ProfsTer5
NP_001091680.1:p.His176ProfsTer5
1/9594 5.0e-05 2 frameshift Likely pathogenic
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
2/9594 0.0001 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
1/9594 5.0e-05 2 donor_site Likely pathogenic
View 3 52393279 52393279 G > A DNAH1 ENST00000420323.2:c.4284G>A
ENSP00000401514.2:p.Trp1428Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 3 57232868 57232868 G > T HESX1 NM_003865.2:c.270C>A
NP_003856.1:p.Tyr90Ter
1/11422 4.0e-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
1/9594 5.0e-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
2/9594 0.0001 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
2/9555 0.0001 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
32/9555 0.00167 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
2/9594 0.0001 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
4/11422 0.00018 2 acceptor_site Likely pathogenic
View 3 182756860 182756860 C > T MCCC1 NM_020166.3:c.1331G>A
NP_064551.3:p.Arg444His
1/9594 5.0e-05 1 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
3/10293 0.00015 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
4/9594 0.00021 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
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 4 47427698 47427698 C > - GABRB1 ENST00000295454.3:c.1090del
ENSP00000295454.3:p.His364ThrfsTer24
1/9555 5.0e-05 2 frameshift Likely pathogenic
View 4 103579002 103579003 AC > - MANBA NM_005908.3:c.1540_1541del
NP_005899.3:p.Val514CysfsTer10
3/9594 0.00016 2 frameshift Likely pathogenic
View 4 103586010 103586010 C > A MANBA NM_005908.3:c.1318-1G>T
3/9594 0.00016 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
2/9594 0.0001 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
2/9594 0.0001 2 frameshift Likely pathogenic
View 4 108852776 108852807 del > - CYP2U1 NM_183075.2:c.-24_8del
2/9594 0.0001 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
3/9594 0.00016 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
2/9594 0.0001 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
2/9594 0.0001 1 Likely pathogenic
View 4 123226130 123226130 A > - KIAA1109 NM_015312.3:c.9666del
NP_056127.2:p.Lys3222AsnfsTer24
6/9594 0.00031 2 frameshift Likely pathogenic
View 4 123855729 123855731 CAA > - SPATA5 NM_145207.2:c.989_991del
NP_660208.2:p.Thr330del
3/9555 0.00016 1 Likely pathogenic
View 4 146575151 146575152 - > A MMAA NM_172250.2:c.829dupA
NP_758454.1:p.Arg277LysfsTer14
3/11422 0.00013 2 frameshift Likely pathogenic
Displaying 200 through 250 of 344 variants