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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 |