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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 19 42753385 42753385 C > - ERF NM_006494.2:c.879del
NP_006485.2:p.Ser295AlafsTer16
2/8685 0.00012 2 frameshift Likely pathogenic
View 19 42753511 42753511 C > - ERF NM_006494.2:c.753del
NP_006485.2:p.Pro252LeufsTer19
1/8685 6.0e-05 2 frameshift Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/8685 0.00012 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L ENST00000399161.2:c.1706G>A
ENSP00000382114.2:p.Arg569Gln
1/8685 6.0e-05 1 Likely pathogenic
View 2 1982996 1982996 A > T MYT1L ENST00000399161.2:c.93T>A
ENSP00000382114.2:p.Cys31Ter
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 2 15374832 15374832 G > A NBAS NBAS NM_015909.3:c.5983C>T
NR_052013.2:n.6027C>T
NP_056993.2:p.Arg1995Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 2 27445832 27445832 C > T CAD ENST00000264705.4:c.736C>T
ENSP00000264705.3:p.Arg246Ter
2/8646 0.00012 2 premature_stop Likely pathogenic
View 2 27449767 27449767 C > T CAD ENST00000264705.4:c.2224C>T
ENSP00000264705.3:p.Arg742Ter
2/8646 0.00012 2 premature_stop Likely pathogenic
View 2 27590972 27590972 G > A EIF2B4 EIF2B4 EIF2B4 NM_015636.3:c.622C>T
NM_172195.3:c.685C>T
NM_001034116.1:c.625C>T
NP_056451.3:p.Arg208Ter
NP_751945.2:p.Arg229Ter
NP_001029288.1:p.Arg209Ter
1/8685 6.0e-05 1 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
2/8685 0.00012 2 frameshift Likely pathogenic
View 2 58388668 58388670 ATA > - FANCL FANCL NM_001114636.1:c.1022_1024del
NM_018062.3:c.1007_1009del
NP_001108108.1:p.Ile341_Cys342del
NP_060532.2:p.Ile336_Cys337del
12/8685 0.00069 1 Likely pathogenic
View 2 84668442 84668442 G > A SUCLG1 NM_003849.3:c.460C>T
NP_003840.2:p.Arg154Ter
2/10521 0.0001 2 premature_stop Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/10521 0.0001 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
18/8685 0.00104 2 frameshift Likely pathogenic
View 2 121743949 121743949 G > - GLI2 NM_005270.4:c.2055del
NP_005261.2:p.Thr686ArgfsTer9
1/8685 6.0e-05 2 frameshift Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
2/8939 0.00011 2 frameshift Likely pathogenic
View 2 166172125 166172125 C > T SCN2A SCN2A SCN2A NM_001040143.1:c.1528C>T
NM_001040142.1:c.1528C>T
NM_021007.2:c.1528C>T
NP_001035233.1:p.Gln510Ter
NP_001035232.1:p.Gln510Ter
NP_066287.2:p.Gln510Ter
1/8685 6.0e-05 2 premature_stop 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
1/8939 6.0e-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
3/10521 0.00014 2 premature_stop Likely pathogenic
View 2 197081790 197081790 C > T HECW2 ENST00000260983.3:c.4436G>A
ENSP00000260983.2:p.Arg1479Gln
1/8646 6.0e-05 1 non_synonymous Likely pathogenic
View 2 210843359 210843359 G > A UNC80 UNC80 NM_182587.3:c.8832G>A
NM_032504.1:c.8847G>A
NP_872393.3:p.Trp2944Ter
NP_115893.1:p.Trp2949Ter
2/8685 0.00012 2 premature_stop Likely pathogenic
View 2 225422467 225422467 T > C CUL3 CUL3 CUL3 NM_001257198.1:c.191A>G
NM_003590.4:c.173A>G
NM_001257197.1:c.67-22109A>G
NP_001244127.1:p.Tyr64Cys
NP_003581.1:p.Tyr58Cys
1/8685 6.0e-05 2 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
2/10521 0.0001 1 Likely pathogenic
View 2 241666296 241666296 G > A KIF1A KIF1A NM_001244008.1:c.4069C>T
NM_004321.6:c.3766C>T
NP_001230937.1:p.Arg1357Trp
NP_004312.2:p.Arg1256Trp
2/8685 0.00012 2 non_synonymous Likely pathogenic
View 20 3899366 3899366 A > G PANK2 PANK2 PANK2 NM_153640.2:c.712A>G
NM_024960.4:c.712A>G
NM_153638.2:c.1585A>G
NP_705904.1:p.Ile238Val
NP_079236.3:p.Ile238Val
NP_705902.2:p.Ile529Val
3/10521 0.00014 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
7/8685 0.0004 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/8685 6.0e-05 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/8685 6.0e-05 2 premature_stop Likely pathogenic
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
2/8685 0.00012 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
1/8685 6.0e-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
2/9384 0.00011 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
117/8685 0.00674 1 Likely pathogenic
View 22 18908937 18908937 C > G PRODH PRODH ENST00000357068.6:c.930-1G>C
ENST00000334029.2:c.606-1G>C
2/8685 0.00012 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
2/8685 0.00012 2 premature_stop Likely pathogenic
View 22 21096950 21096950 G > A PI4KA NM_058004.3:c.3559C>T
NP_477352.3:p.Gln1187Ter
1/8685 6.0e-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
1/8685 6.0e-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
1/8685 6.0e-05 2 premature_stop 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
1/8685 6.0e-05 2 premature_stop Likely pathogenic
View 22 38129421 38129421 T > C TRIOBP NM_001039141.2:c.4062+2T>C
2/8685 0.00012 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
5/8685 0.00029 1 Likely pathogenic
View 22 42457056 42457056 C > T NAGA NM_000262.2:c.973G>A
NP_000253.1:p.Glu325Lys
64/8685 0.00374 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
2/10521 0.0001 1 Likely pathogenic
View 22 51123083 51123083 A > G SHANK3 ENST00000262795.3:c.1030+4A>G
1/8685 6.0e-05 2 five_prime_flank Likely pathogenic
View 22 51137232 51137232 G > T SHANK3 ENST00000262795.3:c.1660+1G>T
1/8685 6.0e-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
1/8646 6.0e-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
2/8685 0.00012 2 premature_stop Likely pathogenic
View 3 14708384 14708384 G > A CCDC174 NM_016474.4:c.654G>A
NP_057558.3:p.Trp218Ter
2/8646 0.00012 2 premature_stop Likely pathogenic
View 3 15683564 15683564 G > A BTD NM_000060.2:c.459G>A
NP_000051.1:p.Glu153=
1/10521 5.0e-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
1/8685 6.0e-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
3/8685 0.00017 2 premature_stop Likely pathogenic
Displaying 150 through 200 of 307 variants