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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 16843729 16843729 G > T TNFRSF13B NM_012452.2:c.542C>A
NP_036584.1:p.Ala181Glu
123/13144 0.00472 1 Likely pathogenic
View 17 17699025 17699026 - > G RAI1 NM_030665.3:c.2767dupG
NP_109590.3:p.Glu923GlyfsTer21
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 17 18202872 18202872 C > A TOP3A NM_004618.3:c.990+1G>T
2/11983 8.0e-05 2 donor_site Likely pathogenic
View 17 29541604 29541607 GTAA > - NF1 NF1 NF1 NM_001128147.2:c.1527+4_1527+7del
NM_000267.3:c.1527+4_1527+7del
NM_001042492.2:c.1527+4_1527+7del
1/11983 4.0e-05 1 Likely pathogenic
View 17 29554625 29554625 G > A NF1 NF1 NM_000267.3:c.2409+1G>A
NM_001042492.2:c.2409+1G>A
1/11983 4.0e-05 1 Likely pathogenic
View 17 34893231 34893231 T > A PIGW NM_178517.3:c.281T>A
NP_848612.2:p.Leu94Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 17 34893565 34893568 TGTT > - PIGW NM_178517.3:c.617_620del
NP_848612.2:p.Val206GlyfsTer3
5/13144 0.00019 2 frameshift Likely pathogenic
View 17 34893596 34893596 C > T PIGW NM_178517.3:c.646C>T
NP_848612.2:p.Arg216Ter
5/13144 0.00019 2 premature_stop Likely pathogenic
View 17 37844236 37844236 A > - PGAP3 NM_033419.3:c.32del
NP_219487.3:p.Leu11GlnfsTer36
1/13144 8.0e-05 2 frameshift Likely pathogenic
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
36/13144 0.00137 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
1/13144 4.0e-05 1 curation Likely pathogenic
View 17 46021981 46021981 G > C PNPO NM_018129.3:c.264-1G>C
1/13810 4.0e-05 2 acceptor_site Likely pathogenic
View 17 54925323 54925323 A > - DGKE NM_003647.2:c.786del
NP_003638.1:p.Gln262HisfsTer22
1/13144 4.0e-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
1/14969 3.0e-05 2 premature_stop Likely pathogenic
View 17 59926587 59926588 TT > - BRIP1 NM_032043.2:c.409_410del
NP_114432.2:p.Lys137ValfsTer4
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/13774 7.0e-05 1 curation Likely pathogenic
View 17 62019215 62019215 A > G SCN4A NM_000334.4:c.4427T>C
NP_000325.4:p.Met1476Thr
2/13144 8.0e-05 1 curation 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
1/13105 4.0e-05 2 frameshift Likely pathogenic
View 17 71189429 71189430 - > G COG1 NM_018714.2:c.225dupG
NP_061184.1:p.Leu76AlafsTer88
2/14969 7.0e-05 2 frameshift Likely pathogenic
View 17 71196096 71196096 C > T COG1 NM_018714.2:c.1006C>T
NP_061184.1:p.Arg336Ter
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 17 72285876 72285876 G > A DNAI2 DNAI2 NM_023036.4:c.610+1G>A
NM_001172810.1:c.610+1G>A
2/11983 8.0e-05 2 donor_site 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
1/14969 3.0e-05 1 Likely pathogenic
View 17 78013932 78013932 C > T CCDC40 CCDC40 NM_001243342.1:c.415C>T
NM_017950.3:c.415C>T
NP_001230271.1:p.Gln139Ter
NP_060420.2:p.Gln139Ter
4/13144 0.00015 2 ClinVar pathogenic variant Likely pathogenic
View 17 80884289 80884289 T > A TBCD NM_005993.4:c.2393T>A
NP_005984.3:p.Leu798Ter
2/13105 8.0e-05 2 premature_stop Likely pathogenic
View 18 9122642 9122643 CT > - NDUFV2 NM_021074.4:c.434_435del
NP_066552.2:p.Ser145Ter
2/13144 8.0e-05 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
1/13144 4.0e-05 1 curation Likely pathogenic
View 18 43535056 43535057 - > TT EPG5 NM_020964.2:c.310_311dupAA
NP_066015.2:p.Glu105ArgfsTer29
1/13144 4.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 19 1401342 1401342 C > T GAMT GAMT NM_138924.2:c.134G>A
NM_000156.5:c.134G>A
NP_620279.1:p.Trp45Ter
NP_000147.1:p.Trp45Ter
2/14969 7.0e-05 1 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
3/11983 0.00013 2 donor_site Likely pathogenic
View 19 11322743 11322743 G > A DOCK6 NM_020812.3:c.4576C>T
NP_065863.2:p.Arg1526Ter
2/13144 8.0e-05 1 Likely pathogenic
View 19 11347195 11347195 G > - DOCK6 NM_020812.3:c.2219del
NP_065863.2:p.Pro740HisfsTer9
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 19 12775801 12775801 T > C MAN2B1 MAN2B1 NM_000528.3:c.437-2A>G
NM_001173498.1:c.437-2A>G
2/13810 7.0e-05 2 acceptor_site Likely pathogenic
View 19 12776180 12776180 T > - MAN2B1 MAN2B1 NM_000528.3:c.422del
NM_001173498.1:c.422del
NP_000519.2:p.Asp141AlafsTer16
NP_001166969.1:p.Asp141AlafsTer16
1/14969 3.0e-05 1 Likely pathogenic
View 19 12921138 12921138 G > A RNASEH2A NM_006397.2:c.557G>A
NP_006388.2:p.Arg186Gln
2/14969 0.0001 1 Likely pathogenic
View 19 13007023 13007023 A > G GCDH GCDH GCDH GCDH NR_102317.1:n.1052-31A>G
NM_013976.3:c.640A>G
NR_102316.1:n.803A>G
NM_000159.3:c.640A>G
NP_039663.1:p.Thr214Ala
NP_000150.1:p.Thr214Ala
1/14969 7.0e-05 2 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/13144 8.0e-05 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
2/13144 8.0e-05 1 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
2/13381 7.0e-05 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
1/14969 3.0e-05 1 curation Likely pathogenic
View 19 42753385 42753385 C > - ERF NM_006494.2:c.879del
NP_006485.2:p.Ser295AlafsTer16
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 19 42753511 42753511 C > - ERF NM_006494.2:c.753del
NP_006485.2:p.Pro252LeufsTer19
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 19 55677973 55677973 C > - DNAAF3 DNAAF3 ENST00000527223.2:c.44del
ENST00000391720.4:c.44del
ENSP00000436975.2:p.Gly15AlafsTer14
ENSP00000375600.5:p.Gly15AlafsTer14
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L ENST00000399161.2:c.1706G>A
ENSP00000382114.2:p.Arg569Gln
1/13144 4.0e-05 1 curation Likely pathogenic
View 2 1982996 1982996 A > T MYT1L ENST00000399161.2:c.93T>A
ENSP00000382114.2:p.Cys31Ter
1/13144 4.0e-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
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 2 27445832 27445832 C > T CAD ENST00000264705.4:c.736C>T
ENSP00000264705.3:p.Arg246Ter
2/13105 8.0e-05 2 premature_stop Likely pathogenic
View 2 27449767 27449767 C > T CAD ENST00000264705.4:c.2224C>T
ENSP00000264705.3:p.Arg742Ter
2/13105 8.0e-05 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
1/13144 4.0e-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
3/13144 0.00011 2 frameshift Likely pathogenic
Displaying 200 through 250 of 530 variants