Download: Excel
| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 14 | 88401223 | 88401223 | C > T | GALC GALC |
ENST00000261304.2:c.1912-1G>A ENST00000393569.2:c.1834-1G>A |
1/11422 | 4.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 14 | 88407758 | 88407759 | - > T | GALC GALC |
ENST00000261304.2:c.1814dupA ENST00000393569.2:c.1736dupA |
ENSP00000261304.2:p.Tyr605Ter ENSP00000377199.2:p.Tyr579Ter |
2/11422 | 9.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 14 | 92361405 | 92361405 | A > G | FBLN5 |
NM_006329.3:c.391T>C |
NP_006320.2:p.Cys131Arg |
3/11422 | 0.00018 | 2 | non_synonymous | Likely pathogenic |
| View | 14 | 102470854 | 102470854 | G > A | DYNC1H1 |
NM_001376.4:c.4884-1G>A |
2/9594 | 0.0001 | 2 | acceptor_site | Likely pathogenic | |
| View | 14 | 105208339 | 105208344 | CGTGAG > - | ADSSL1 ADSSL1 |
NM_199165.1:c.1077_1077+5del NM_152328.3:c.948_948+5del |
1/9555 | 5.0e-05 | 2 | disruption_of_splicing | Likely pathogenic | |
| View | 15 | 40501845 | 40501845 | C > - | BUB1B |
ENST00000287598.6:c.2153del |
ENSP00000287598.6:p.Thr718IlefsTer14 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 15 | 40917591 | 40917592 | - > T | KNL1 KNL1 |
NM_144508.4:c.5130dupT NM_170589.4:c.5208dupT |
NP_653091.3:p.Ile1711TyrfsTer3 NP_733468.3:p.Ile1737TyrfsTer3 |
5/9594 | 0.00026 | 2 | frameshift | Likely pathogenic |
| View | 15 | 57526310 | 57526310 | G > A | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207040.1:c.525+5G>A NM_003205.3:c.1035+5G>A NM_207038.1:c.1035+5G>A NM_207037.1:c.1035+5G>A NM_207036.1:c.1035+5G>A |
1/9594 | 5.0e-05 | 2 | five_prime_flank | Likely pathogenic | |
| View | 15 | 72978570 | 72978570 | T > C | BBS4 BBS4 BBS4 |
NR_045566.1:n.51T>C NR_045565.1:n.51T>C ENST00000268057.4:c.2T>C |
ENSP00000268057.4:p.Met1? |
2/9594 | 0.0001 | 2 | loss_of_initiation | Likely pathogenic |
| View | 15 | 89872286 | 89872286 | A > C | POLG POLG |
NM_001126131.1:c.911T>G NM_002693.2:c.911T>G |
NP_001119603.1:p.Leu304Arg NP_002684.1:p.Leu304Arg |
1/11422 | 4.0e-05 | 1 | Likely pathogenic | |
| View | 15 | 91550240 | 91550240 | C > A | VPS33B |
NM_018668.3:c.640G>T |
NP_061138.3:p.Glu214Ter |
1/11422 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 15 | 99486226 | 99486227 | - > G | IGF1R |
NM_000875.3:c.3534dupG |
NP_000866.1:p.Met1179AspfsTer4 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 15 | 101120526 | 101120526 | A > - | LINS1 |
ENST00000314742.8:c.431del |
ENSP00000318423.8:p.Leu144TyrfsTer17 |
7/9594 | 0.00036 | 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 |
2/9594 | 0.0001 | 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 |
8/9594 | 0.00042 | 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 |
1/9594 | 5.0e-05 | 2 | Likely pathogenic | |
| View | 16 | 5132677 | 5132677 | A > G | ALG1 |
NM_019109.4:c.1187+3A>G |
9/11422 | 0.00039 | 1 | Likely pathogenic | ||
| View | 16 | 8906851 | 8906851 | G > A | PMM2 |
NM_000303.2:c.527G>A |
NP_000294.1:p.Gly176Asp |
3/11422 | 0.00013 | 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 |
1/9594 | 5.0e-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 |
1/9594 | 5.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 16 | 14022053 | 14022053 | T > - | ERCC4 |
NM_005236.2:c.755del |
NP_005227.1:p.Leu252TyrfsTer3 |
2/11422 | 9.0e-05 | 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 |
8/9594 | 0.00042 | 1 | Likely pathogenic | |
| View | 16 | 31004164 | 31004164 | A > G | STX1B |
NM_052874.3:c.845T>C |
NP_443106.1:p.Ile282Thr |
5/9594 | 0.00026 | 1 | non_synonymous | Likely pathogenic |
| View | 16 | 50745155 | 50745155 | A > - | NOD2 |
NM_022162.1:c.1334del |
NP_071445.1:p.Lys445ArgfsTer12 |
2/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 16 | 51173418 | 51173421 | CACT > - | SALL1 SALL1 |
NM_002968.2:c.2712_2715del NM_001127892.1:c.2421_2424del |
NP_002959.2:p.Gly906ValfsTer59 NP_001121364.1:p.Gly809ValfsTer59 |
2/9594 | 0.0001 | 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 |
2/11422 | 9.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 16 | 56388883 | 56388883 | A > G | GNAO1 |
NM_020988.2:c.983A>G |
NP_066268.1:p.Asp328Gly |
1/9594 | 5.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 16 | 56530925 | 56530925 | G > A | BBS2 |
ENST00000245157.5:c.1864C>T |
ENSP00000245157.5:p.Arg622Ter |
1/9594 | 5.0e-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 |
15/9594 | 0.00078 | 2 | premature_stop | Likely pathogenic |
| View | 16 | 78466384 | 78466384 | G > A | WWOX |
NM_016373.2:c.792-1G>A |
1/9594 | 5.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 16 | 88873798 | 88873798 | G > A | CDT1 |
NM_030928.3:c.1385G>A |
NP_112190.2:p.Arg462Gln |
2/9594 | 0.0001 | 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 |
6/9594 | 0.00031 | 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 |
18/9594 | 0.00094 | 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 |
2/9594 | 0.0001 | 1 | Likely pathogenic | |
| View | 16 | 89809210 | 89809211 | - > CT | FANCA |
NM_000135.2:c.3761_3762dupAG |
NP_000126.2:p.Glu1255ArgfsTer12 |
2/9594 | 0.0001 | 2 | Likely pathogenic | |
| View | 16 | 89874776 | 89874776 | C > G | FANCA FANCA |
NM_001018112.1:c.523-1G>C NM_000135.2:c.523-1G>C |
1/9594 | 5.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 17 | 1674398 | 1674399 | - > T | SERPINF1 |
NM_002615.5:c.360dupT |
NP_002606.3:p.Thr121TyrfsTer3 |
2/9594 | 0.0001 | 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 |
9/11422 | 0.00039 | 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 |
2/11422 | 9.0e-05 | 1 | Likely pathogenic | |
| View | 17 | 8395665 | 8395665 | G > A | MYH10 MYH10 MYH10 |
ENST00000269243.4:c.4528C>T ENST00000379980.4:c.4576C>T ENST00000360416.3:c.4621C>T |
ENSP00000269243.4:p.Arg1510Ter ENSP00000369315.4:p.Arg1526Ter ENSP00000353590.3:p.Arg1541Ter |
2/9555 | 0.0001 | 2 | premature_stop | 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 |
2/9594 | 0.0001 | 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 |
2/11422 | 9.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 17 | 16843729 | 16843729 | G > T | TNFRSF13B |
NM_012452.2:c.542C>A |
NP_036584.1:p.Ala181Glu |
86/9594 | 0.00453 | 1 | Likely pathogenic | |
| View | 17 | 17699025 | 17699026 | - > G | RAI1 |
NM_030665.3:c.2767dupG |
NP_109590.3:p.Glu923GlyfsTer21 |
1/9594 | 5.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 17 | 18202872 | 18202872 | C > A | TOP3A |
NM_004618.3:c.990+1G>T |
2/9594 | 0.0001 | 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 |
1/9594 | 5.0e-05 | 1 | Likely pathogenic | ||
| View | 17 | 34893231 | 34893231 | T > A | PIGW |
NM_178517.3:c.281T>A |
NP_848612.2:p.Leu94Ter |
2/9594 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 34893565 | 34893568 | TGTT > - | PIGW |
NM_178517.3:c.617_620del |
NP_848612.2:p.Val206GlyfsTer3 |
3/9594 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 17 | 34893596 | 34893596 | C > T | PIGW |
NM_178517.3:c.646C>T |
NP_848612.2:p.Arg216Ter |
4/9594 | 0.00021 | 2 | premature_stop | Likely pathogenic |
| View | 17 | 37844236 | 37844236 | A > - | PGAP3 |
NM_033419.3:c.32del |
NP_219487.3:p.Leu11GlnfsTer36 |
1/9594 | 0.0001 | 2 | frameshift | Likely pathogenic |