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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 15 | 101120526 | 101120526 | A > - | LINS1 |
ENST00000314742.8:c.431del |
ENSP00000318423.8:p.Leu144TyrfsTer17 |
7/8685 | 0.0004 | 2 | frameshift | Likely pathogenic |
| View | 16 | 2131781 | 2131782 | - > T | TSC2 TSC2 TSC2 |
NM_000548.3:c.3797dupT NM_001114382.1:c.3797dupT NM_001077183.1:c.3665dupT |
NP_000539.2:p.Pro1267AlafsTer55 NP_001107854.1:p.Pro1267AlafsTer32 NP_001070651.1:p.Pro1223AlafsTer32 |
2/8685 | 0.00012 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 16 | 2546994 | 2546994 | C > G | TBC1D24 TBC1D24 |
NM_020705.2:c.845C>G NM_001199107.1:c.845C>G |
NP_065756.1:p.Pro282Arg NP_001186036.1:p.Pro282Arg |
8/8685 | 0.00046 | 1 | Likely pathogenic | |
| View | 16 | 3786691 | 3786691 | A > G | CREBBP CREBBP |
NM_001079846.1:c.4406T>C NM_004380.2:c.4520T>C |
NP_001073315.1:p.Leu1469Pro NP_004371.2:p.Leu1507Pro |
1/8685 | 6.0e-05 | 2 | Likely pathogenic | |
| View | 16 | 8906851 | 8906851 | G > A | PMM2 |
NM_000303.2:c.527G>A |
NP_000294.1:p.Gly176Asp |
3/10521 | 0.00014 | 1 | Likely pathogenic | |
| View | 16 | 9892232 | 9892232 | C > G | GRIN2A GRIN2A GRIN2A |
NM_001134408.1:c.2258G>C NM_001134407.1:c.2258G>C NM_000833.3:c.2258G>C |
NP_001127880.1:p.Gly753Ala NP_001127879.1:p.Gly753Ala NP_000824.1:p.Gly753Ala |
1/8685 | 6.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 16 | 9923392 | 9923392 | G > A | GRIN2A GRIN2A GRIN2A |
NM_001134408.1:c.1895C>T NM_001134407.1:c.1895C>T NM_000833.3:c.1895C>T |
NP_001127880.1:p.Ser632Phe NP_001127879.1:p.Ser632Phe NP_000824.1:p.Ser632Phe |
1/8685 | 6.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 16 | 14022053 | 14022053 | T > - | ERCC4 |
NM_005236.2:c.755del |
NP_005227.1:p.Leu252TyrfsTer3 |
2/10521 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 16 | 23555998 | 23555998 | G > A | EARS2 EARS2 |
NR_003501.1:n.354C>T NM_001083614.1:c.322C>T |
NP_001077083.1:p.Arg108Trp |
8/8685 | 0.00046 | 1 | Likely pathogenic | |
| View | 16 | 50745155 | 50745155 | A > - | NOD2 |
NM_022162.1:c.1334del |
NP_071445.1:p.Lys445ArgfsTer12 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 16 | 53671640 | 53671640 | C > A | RPGRIP1L RPGRIP1L |
NM_001127897.1:c.3085G>T NM_015272.2:c.3187G>T |
NP_001121369.1:p.Glu1029Ter NP_056087.2:p.Glu1063Ter |
2/10521 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 16 | 56388883 | 56388883 | A > G | GNAO1 |
NM_020988.2:c.983A>G |
NP_066268.1:p.Asp328Gly |
1/8685 | 6.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 16 | 56530925 | 56530925 | G > A | BBS2 |
ENST00000245157.5:c.1864C>T |
ENSP00000245157.5:p.Arg622Ter |
1/8685 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 16 | 75589922 | 75589922 | G > T | TMEM231 TMEM231 TMEM231 |
NM_001077418.2:c.139+47C>A NM_001077416.2:c.248C>A NR_074083.1:n.216+47C>A |
NP_001070884.2:p.Ser83Ter |
13/8685 | 0.00075 | 2 | premature_stop | Likely pathogenic |
| View | 16 | 88873798 | 88873798 | G > A | CDT1 |
NM_030928.3:c.1385G>A |
NP_112190.2:p.Arg462Gln |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 16 | 89167117 | 89167117 | C > T | ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 |
NR_023316.2:n.185-1895C>T NM_174917.3:c.28C>T NM_001127214.2:c.28C>T NR_045666.1:n.405C>T NM_001243279.1:c.28C>T |
NP_777577.2:p.Arg10Trp NP_001120686.1:p.Arg10Trp NP_001230208.1:p.Arg10Trp |
6/8685 | 0.00035 | 3 | non_synonymous | Likely pathogenic |
| View | 16 | 89180844 | 89180844 | G > A | ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 |
NR_023316.2:n.593G>A NM_174917.3:c.1075G>A NM_001127214.2:c.1075G>A NR_045666.1:n.1452G>A NM_001243279.1:c.1075G>A |
NP_777577.2:p.Glu359Lys NP_001120686.1:p.Glu359Lys NP_001230208.1:p.Glu359Lys |
17/8685 | 0.00098 | 1 | Likely pathogenic | |
| View | 16 | 89350772 | 89350775 | TTTG > - | ANKRD11 ANKRD11 ANKRD11 |
NM_013275.5:c.2175_2178del NM_001256182.1:c.2175_2178del NM_001256183.1:c.2175_2178del |
NP_037407.4:p.Asn725LysfsTer23 NP_001243111.1:p.Asn725LysfsTer23 NP_001243112.1:p.Asn725LysfsTer23 |
2/8685 | 0.00012 | 1 | Likely pathogenic | |
| View | 16 | 89874776 | 89874776 | C > G | FANCA FANCA |
NM_001018112.1:c.523-1G>C NM_000135.2:c.523-1G>C |
1/8685 | 6.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 17 | 1674398 | 1674399 | - > T | SERPINF1 |
NM_002615.5:c.360dupT |
NP_002606.3:p.Thr121TyrfsTer3 |
2/8685 | 0.00012 | 2 | frameshift | Likely pathogenic |
| View | 17 | 3559997 | 3559997 | G > A | CTNS CTNS |
NM_004937.2:c.589G>A NM_001031681.2:c.589G>A |
NP_004928.2:p.Gly197Arg NP_001026851.2:p.Gly197Arg |
7/10521 | 0.00033 | 1 | Likely pathogenic | |
| View | 17 | 7125312 | 7125312 | G > A | ACADVL ACADVL ACADVL ACADVL |
NM_001033859.2:c.598G>A NM_001270447.1:c.733G>A NM_001270448.1:c.436G>A NM_000018.3:c.664G>A |
NP_001029031.1:p.Gly200Arg NP_001257376.1:p.Gly245Arg NP_001257377.1:p.Gly146Arg NP_000009.1:p.Gly222Arg |
2/10521 | 0.0001 | 1 | Likely pathogenic | |
| View | 17 | 12905820 | 12905820 | G > A | ELAC2 ELAC2 ELAC2 |
NM_173717.1:c.1156C>T NM_001165962.1:c.1036C>T NM_018127.6:c.1156C>T |
NP_776065.1:p.Gln386Ter NP_001159434.1:p.Gln346Ter NP_060597.4:p.Gln386Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 15142862 | 15142862 | A > G | PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 |
NM_000304.3:c.245T>C NM_153322.2:c.245T>C NR_104018.1:n.271T>C NR_104017.1:n.371T>C NM_153321.2:c.245T>C NM_001281456.1:c.245T>C NM_001281455.1:c.245T>C |
NP_000295.1:p.Leu82Pro NP_696997.1:p.Leu82Pro NP_696996.1:p.Leu82Pro NP_001268385.1:p.Leu82Pro NP_001268384.1:p.Leu82Pro |
2/10521 | 0.0001 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 17 | 16843729 | 16843729 | G > T | TNFRSF13B |
NM_012452.2:c.542C>A |
NP_036584.1:p.Ala181Glu |
82/8685 | 0.00478 | 1 | Likely pathogenic | |
| View | 17 | 17699025 | 17699026 | - > G | RAI1 |
NM_030665.3:c.2767dupG |
NP_109590.3:p.Glu923GlyfsTer21 |
1/8685 | 6.0e-05 | 2 | frameshift | 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 |
1/8685 | 6.0e-05 | 1 | Likely pathogenic | ||
| View | 17 | 34893231 | 34893231 | T > A | PIGW |
NM_178517.3:c.281T>A |
NP_848612.2:p.Leu94Ter |
2/8685 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 34893565 | 34893568 | TGTT > - | PIGW |
NM_178517.3:c.617_620del |
NP_848612.2:p.Val206GlyfsTer3 |
3/8685 | 0.00017 | 2 | frameshift | Likely pathogenic |
| View | 17 | 34893596 | 34893596 | C > T | PIGW |
NM_178517.3:c.646C>T |
NP_848612.2:p.Arg216Ter |
4/8685 | 0.00023 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 37844236 | 37844236 | A > - | PGAP3 |
NM_033419.3:c.32del |
NP_219487.3:p.Leu11GlnfsTer36 |
1/8685 | 0.00012 | 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 |
1/8685 | 6.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 17 | 46021981 | 46021981 | G > C | PNPO |
NM_018129.3:c.264-1G>C |
1/10521 | 5.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 17 | 54925323 | 54925323 | A > - | DGKE |
NM_003647.2:c.786del |
NP_003638.1:p.Gln262HisfsTer22 |
1/8685 | 6.0e-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 |
1/10521 | 5.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 59926587 | 59926588 | TT > - | BRIP1 |
NM_032043.2:c.409_410del |
NP_114432.2:p.Lys137ValfsTer4 |
1/8685 | 6.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 17 | 61561231 | 61561232 | - > CAGTTC | ACE |
NM_000789.3:c.1617_1622dupGTTCCA |
NP_000780.1:p.Gln539_Phe540dup |
2/9128 | 0.00011 | 1 | in_frame_indel | Likely pathogenic |
| View | 17 | 62019215 | 62019215 | A > G | SCN4A |
NM_000334.4:c.4427T>C |
NP_000325.4:p.Met1476Thr |
2/8685 | 0.00012 | 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 |
1/8646 | 6.0e-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 |
1/10521 | 5.0e-05 | 1 | Likely pathogenic | |
| View | 17 | 80884289 | 80884289 | T > A | TBCD |
NM_005993.4:c.2393T>A |
NP_005984.3:p.Leu798Ter |
2/8646 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 18 | 9122642 | 9122643 | CT > - | NDUFV2 |
NM_021074.4:c.434_435del |
NP_066552.2:p.Ser145Ter |
2/8685 | 0.00012 | 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 |
1/8685 | 6.0e-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 |
2/8685 | 0.00012 | 2 | donor_site | Likely pathogenic | |
| View | 19 | 12921138 | 12921138 | G > A | RNASEH2A |
NM_006397.2:c.557G>A |
NP_006388.2:p.Arg186Gln |
2/10521 | 0.00014 | 1 | Likely pathogenic | |
| View | 19 | 18897065 | 18897077 | CACAAGCATCTCC > - | COMP |
NM_000095.2:c.1279_1291del |
NP_000086.2:p.Gly427ThrfsTer84 |
2/8685 | 0.00012 | 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 |
2/8685 | 0.00012 | 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 |
3/8685 | 0.00017 | 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 |
2/8874 | 0.00011 | 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 |
1/10521 | 5.0e-05 | 1 | non_synonymous | Likely pathogenic |