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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 2 1915795 1915795 C > T MYT1L ENST00000399161.2:c.1706G>A
ENSP00000382114.2:p.Arg569Gln
1/6955 7.0e-05 1 Likely pathogenic
View 2 1982996 1982996 A > T MYT1L ENST00000399161.2:c.93T>A
ENSP00000382114.2:p.Cys31Ter
1/6955 7.0e-05 2 premature_stop Likely pathogenic
View 2 32353512 32353512 C > - SPAST SPAST NM_014946.3:c.1209del
NM_199436.1:c.1113del
NP_055761.2:p.Phe404LeufsTer3
NP_955468.1:p.Phe372LeufsTer3
2/6955 0.00014 2 frameshift Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/8745 0.00011 2 donor_site Likely pathogenic
View 2 99778789 99778789 G > - LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 NR_037935.1:n.854del
NM_015929.3:c.369del
NR_037936.1:n.530del
NM_001204830.1:c.369del
NM_145198.2:c.369del
NM_145199.2:c.369del
NM_145197.2:c.369del
NP_057013.1:p.Lys123AsnfsTer8
NP_001191759.1:p.Lys123AsnfsTer8
NP_660199.1:p.Lys123AsnfsTer8
NP_660200.1:p.Lys123AsnfsTer8
NP_660198.1:p.Lys123AsnfsTer8
17/6955 0.00122 2 frameshift Likely pathogenic
View 2 121743949 121743949 G > - GLI2 NM_005270.4:c.2055del
NP_005261.2:p.Thr686ArgfsTer9
1/6955 7.0e-05 2 frameshift Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
2/7166 0.00014 2 frameshift Likely pathogenic
View 2 166915128 166915128 G > A SCN1A SCN1A SCN1A SCN1A NM_001202435.1:c.335C>T
NM_006920.4:c.335C>T
NM_001165963.1:c.335C>T
NM_001165964.1:c.335C>T
NP_001189364.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
NP_001159435.1:p.Thr112Ile
NP_001159436.1:p.Thr112Ile
1/7166 7.0e-05 1 Likely pathogenic
View 2 191109651 191109651 G > A HIBCH HIBCH NM_198047.2:c.853C>T
NM_014362.3:c.853C>T
NP_932164.1:p.Gln285Ter
NP_055177.2:p.Gln285Ter
3/8745 0.00017 2 premature_stop Likely pathogenic
View 2 197081790 197081790 C > T HECW2 ENST00000260983.3:c.4436G>A
ENSP00000260983.2:p.Arg1479Gln
1/6916 7.0e-05 1 non_synonymous Likely pathogenic
View 2 228176567 228176567 G > A LOC654841 COL4A3 NR_102371.1:n.48-6196C>T
NM_000091.4:c.4994G>A
NP_000082.2:p.Cys1665Tyr
2/8745 0.00011 1 Likely pathogenic
View 2 241810850 241810850 G > A AGXT NM_000030.2:c.508G>A
NP_000021.1:p.Gly170Arg
10/6955 0.00072 1 Likely pathogenic
View 20 32880181 32880181 T > C AHCY AHCY NM_000687.2:c.428A>G
NM_001161766.1:c.344A>G
NP_000678.1:p.Tyr143Cys
NP_001155238.1:p.Tyr115Cys
7/6955 0.0005 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/6955 7.0e-05 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/6955 7.0e-05 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
1/6955 7.0e-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
2/7607 0.00013 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
89/6955 0.0064 1 Likely pathogenic
View 22 18908937 18908937 C > G PRODH PRODH ENST00000357068.6:c.930-1G>C
ENST00000334029.2:c.606-1G>C
2/6955 0.00014 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
2/6955 0.00014 2 premature_stop Likely pathogenic
View 22 21096950 21096950 G > A PI4KA NM_058004.3:c.3559C>T
NP_477352.3:p.Gln1187Ter
1/6955 7.0e-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
1/6955 7.0e-05 1 non_synonymous 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
1/6955 7.0e-05 2 premature_stop Likely pathogenic
View 22 38129421 38129421 T > C TRIOBP NM_001039141.2:c.4062+2T>C
2/6955 0.00014 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
5/6955 0.00036 1 Likely pathogenic
View 22 42457056 42457056 C > T NAGA NM_000262.2:c.973G>A
NP_000253.1:p.Glu325Lys
56/6955 0.0041 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
2/8745 0.00011 1 Likely pathogenic
View 22 51123083 51123083 A > G SHANK3 ENST00000262795.3:c.1030+4A>G
1/6955 7.0e-05 2 five_prime_flank 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
1/6916 7.0e-05 3 non_synonymous Likely pathogenic
View 3 15683564 15683564 G > A BTD NM_000060.2:c.459G>A
NP_000051.1:p.Glu153=
1/8745 6.0e-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
1/6955 7.0e-05 1 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
3/6955 0.00022 2 premature_stop 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
2/6955 0.00014 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
25/6916 0.00181 4 five_prime_intronic 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
3/8745 0.00017 2 acceptor_site 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
3/6955 0.00022 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
1/6955 7.0e-05 2 premature_stop Likely pathogenic
View 4 103586010 103586010 C > A MANBA NM_005908.3:c.1318-1G>T
3/6955 0.00022 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
2/6955 0.00014 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
2/6955 0.00014 2 frameshift Likely pathogenic
View 4 108852776 108852807 del > - CYP2U1 NM_183075.2:c.-24_8del
2/6955 0.00014 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
2/6955 0.00014 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
2/6955 0.00014 2 frameshift Likely pathogenic
View 4 123855729 123855731 CAA > - SPATA5 NM_145207.2:c.989_991del
NP_660208.2:p.Thr330del
3/6916 0.00022 1 Likely pathogenic
View 4 146575151 146575152 - > A MMAA NM_172250.2:c.829dupA
NP_758454.1:p.Arg277LysfsTer14
3/8745 0.00017 2 frameshift Likely pathogenic
View 5 37180188 37180189 CA > - CPLANE1 NM_023073.3:c.5667_5668del
NP_075561.3:p.Asp1890Ter
2/6955 0.00014 2 frameshift Likely pathogenic
View 5 37201863 37201863 C > A CPLANE1 NM_023073.3:c.3337G>T
NP_075561.3:p.Glu1113Ter
2/6955 0.00014 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
2/8745 0.00011 2 premature_stop Likely pathogenic
View 5 131705800 131705800 C > T SLC22A5 NM_003060.3:c.136C>T
NP_003051.1:p.Pro46Ser
20/8954 0.00112 1 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
2/6955 0.00014 2 non_synonymous Likely pathogenic
Displaying 100 through 150 of 201 variants