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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 17 40717494 40717495 - > GT COASY COASY COASY NM_025233.6:c.1403_1404dupTG
NM_001042532.3:c.1490_1491dupTG
NM_001042529.2:c.1403_1404dupTG
NP_079509.5:p.Ile469Ter
NP_001035997.2:p.Ile498Ter
NP_001035994.1:p.Ile469Ter
22/9594 0.00115 2 frameshift Likely pathogenic
View 17 44143903 44143903 C > A KANSL1 KANSL1 KANSL1 ENST00000574590.1:c.1848G>T
ENST00000432791.1:c.1848G>T
ENST00000262419.6:c.1848G>T
ENSP00000461812.1:p.Lys616Asn
ENSP00000387393.1:p.Lys616Asn
ENSP00000262419.6:p.Lys616Asn
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 17 46021981 46021981 G > C PNPO NM_018129.3:c.264-1G>C
1/11422 4.0e-05 2 acceptor_site Likely pathogenic
View 17 54925323 54925323 A > - DGKE NM_003647.2:c.786del
NP_003638.1:p.Gln262HisfsTer22
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 17 56292109 56292109 G > A MKS1 MKS1 NM_017777.3:c.508C>T
NM_001165927.1:c.478C>T
NP_060247.2:p.Arg170Ter
NP_001159399.1:p.Arg160Ter
1/11422 4.0e-05 2 premature_stop Likely pathogenic
View 17 59926587 59926588 TT > - BRIP1 NM_032043.2:c.409_410del
NP_114432.2:p.Lys137ValfsTer4
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/10128 0.0001 1 in_frame_indel Likely pathogenic
View 17 62019215 62019215 A > G SCN4A NM_000334.4:c.4427T>C
NP_000325.4:p.Met1476Thr
2/9594 0.0001 1 Likely pathogenic
View 17 65909281 65909281 C > - BPTF BPTF NM_004459.6:c.5660del
NM_182641.3:c.5282del
NP_004450.3:p.Pro1887ArgfsTer14
NP_872579.2:p.Pro1761ArgfsTer14
1/9555 5.0e-05 2 frameshift Likely pathogenic
View 17 73953546 73953546 C > T ACOX1 ACOX1 ACOX1 NM_001185039.1:c.418G>A
NM_004035.6:c.532G>A
NM_007292.5:c.532G>A
NP_001171968.1:p.Gly140Ser
NP_004026.2:p.Gly178Ser
NP_009223.2:p.Gly178Ser
1/11422 4.0e-05 1 Likely pathogenic
View 17 80884289 80884289 T > A TBCD NM_005993.4:c.2393T>A
NP_005984.3:p.Leu798Ter
2/9555 0.0001 2 premature_stop Likely pathogenic
View 18 9122642 9122643 CT > - NDUFV2 NM_021074.4:c.434_435del
NP_066552.2:p.Ser145Ter
2/9594 0.0001 2 frameshift Likely pathogenic
View 18 42281468 42281468 G > C SETBP1 SETBP1 NM_015559.2:c.157G>C
NM_001130110.1:c.157G>C
NP_056374.2:p.Glu53Gln
NP_001123582.1:p.Glu53Gln
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 19 7625651 7625651 G > A PNPLA6 PNPLA6 PNPLA6 PNPLA6 PNPLA6 NM_001166113.1:c.3702+1G>A
NM_001166114.1:c.3816+1G>A
NM_001166111.1:c.3846+1G>A
NM_001166112.1:c.3621+1G>A
NM_006702.4:c.3702+1G>A
2/9594 0.0001 2 donor_site Likely pathogenic
View 19 12921138 12921138 G > A RNASEH2A NM_006397.2:c.557G>A
NP_006388.2:p.Arg186Gln
2/11422 0.00013 1 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/9594 0.0001 1 Likely pathogenic
View 19 30193884 30193884 C > A C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 NR_045690.1:n.151G>T
NR_045691.1:n.422G>T
NM_001256046.1:c.161G>T
NM_031448.4:c.161G>T
NM_001256047.1:c.161G>T
NR_045692.1:n.713G>T
NM_001031726.3:c.194G>T
NP_001242975.1:p.Gly54Val
NP_113636.2:p.Gly54Val
NP_001242976.1:p.Gly54Val
NP_001026896.2:p.Gly65Val
2/9594 0.0001 1 Likely pathogenic
View 19 36572414 36572414 G > A WDR62 WDR62 NM_173636.4:c.1313G>A
NM_001083961.1:c.1313G>A
NP_775907.4:p.Arg438His
NP_001077430.1:p.Arg438His
3/9594 0.00016 2 Likely pathogenic
View 19 38951229 38951229 C > T RYR1 RYR1 NM_001042723.1:c.2575C>T
NM_000540.2:c.2575C>T
NP_001036188.1:p.Gln859Ter
NP_000531.2:p.Gln859Ter
2/9783 0.0001 2 premature_stop Likely pathogenic
View 19 41928258 41928258 A > G BCKDHA BCKDHA NM_000709.3:c.836A>G
NM_001164783.1:c.836A>G
NP_000700.1:p.Tyr279Cys
NP_001158255.1:p.Tyr279Cys
1/11422 4.0e-05 1 non_synonymous Likely pathogenic
View 19 42753385 42753385 C > - ERF NM_006494.2:c.879del
NP_006485.2:p.Ser295AlafsTer16
2/9594 0.0001 2 frameshift Likely pathogenic
View 19 42753511 42753511 C > - ERF NM_006494.2:c.753del
NP_006485.2:p.Pro252LeufsTer19
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/9594 0.0001 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L ENST00000399161.2:c.1706G>A
ENSP00000382114.2:p.Arg569Gln
1/9594 5.0e-05 1 Likely pathogenic
View 2 1982996 1982996 A > T MYT1L ENST00000399161.2:c.93T>A
ENSP00000382114.2:p.Cys31Ter
1/9594 5.0e-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
2/9594 0.0001 2 premature_stop Likely pathogenic
View 2 27445832 27445832 C > T CAD ENST00000264705.4:c.736C>T
ENSP00000264705.3:p.Arg246Ter
2/9555 0.0001 2 premature_stop Likely pathogenic
View 2 27449767 27449767 C > T CAD ENST00000264705.4:c.2224C>T
ENSP00000264705.3:p.Arg742Ter
2/9555 0.0001 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
1/9594 5.0e-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
2/9594 0.0001 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
12/9594 0.00063 1 Likely pathogenic
View 2 84668442 84668442 G > A SUCLG1 NM_003849.3:c.460C>T
NP_003840.2:p.Arg154Ter
2/11422 9.0e-05 2 premature_stop Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/11422 9.0e-05 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
21/9594 0.00109 2 frameshift Likely pathogenic
View 2 121743949 121743949 G > - GLI2 NM_005270.4:c.2055del
NP_005261.2:p.Thr686ArgfsTer9
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
2/9939 0.0001 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
1/9594 5.0e-05 2 premature_stop Likely pathogenic
View 2 166785711 166785711 A > - TTC21B NM_024753.4:c.1320del
NP_079029.3:p.Phe440LeufsTer4
2/9594 0.0001 1 ClinVar pathogenic variant 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
1/9939 5.0e-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
3/11422 0.00013 2 premature_stop Likely pathogenic
View 2 197081790 197081790 C > T HECW2 ENST00000260983.3:c.4436G>A
ENSP00000260983.2:p.Arg1479Gln
1/9555 5.0e-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
2/9594 0.0001 2 premature_stop Likely pathogenic
View 2 219646974 219646974 C > - CYP27A1 NM_000784.3:c.69del
NP_000775.1:p.His23GlnfsTer35
1/11765 4.0e-05 2 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
1/9594 5.0e-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
2/11422 9.0e-05 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
2/9594 0.0001 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
3/11422 0.00013 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
7/9594 0.00036 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/9594 5.0e-05 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/9594 5.0e-05 2 premature_stop Likely pathogenic
Displaying 150 through 200 of 344 variants