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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 9787030 | 9787030 | G > A | PIK3CD |
NM_005026.3:c.3061G>A |
NP_005017.3:p.Glu1021Lys |
1/4281 | 0.00012 | 1 | Pathogenic | |
| View | 1 | 11217230 | 11217230 | C > A | MTOR |
NM_004958.3:c.4448G>T |
NP_004949.1:p.Cys1483Phe |
1/4281 | 0.00012 | 1 | Pathogenic | |
| View | 1 | 16380203 | 16380203 | G > - | CLCNKB |
NM_001165945.2:c.1186del NM_000085.4:c.1693del |
NP_001159417.2:p.Glu396ArgfsTer7 NP_000076.2:p.Glu565ArgfsTer7 |
2/4281 | 0.00035 | 1 | frameshift | Pathogenic |
| View | 1 | 21889651 | 21889651 | G > A | ALPL TRNAN-GUU |
NM_000478.4:c.346G>A NM_001177520.1:c.115G>A NM_001127501.2:c.181G>A |
NP_000469.3:p.Ala116Thr NP_001170991.1:p.Ala39Thr NP_001120973.2:p.Ala61Thr |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 1 | 21890632 | 21890632 | G > A | ALPL TRNAN-GUU |
NM_000478.4:c.571G>A NM_001177520.1:c.340G>A NM_001127501.2:c.406G>A |
NP_000469.3:p.Glu191Lys NP_001170991.1:p.Glu114Lys NP_001120973.2:p.Glu136Lys |
11/6075 | 0.00091 | 1 | Pathogenic | |
| View | 1 | 21890681 | 21890681 | A > C | ALPL TRNAN-GUU |
NM_000478.4:c.620A>C NM_001177520.1:c.389A>C NM_001127501.2:c.455A>C |
NP_000469.3:p.Gln207Pro NP_001170991.1:p.Gln130Pro NP_001120973.2:p.Gln152Pro |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 1 | 21900176 | 21900176 | A > C | ALPL TRNAN-GUU |
NM_000478.4:c.881A>C NM_001177520.1:c.650A>C NM_001127501.2:c.716A>C |
NP_000469.3:p.Asp294Ala NP_001170991.1:p.Asp217Ala NP_001120973.2:p.Asp239Ala |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 1 | 21902229 | 21902229 | G > A | ALPL TRNAN-GUU |
NM_000478.4:c.1001G>A NM_001177520.1:c.770G>A NM_001127501.2:c.836G>A |
NP_000469.3:p.Gly334Asp NP_001170991.1:p.Gly257Asp NP_001120973.2:p.Gly279Asp |
3/6075 | 0.00025 | 1 | Pathogenic | |
| View | 1 | 21902361 | 21902361 | A > T | ALPL TRNAN-GUU |
NM_000478.4:c.1133A>T NM_001177520.1:c.902A>T NM_001127501.2:c.968A>T |
NP_000469.3:p.Asp378Val NP_001170991.1:p.Asp301Val NP_001120973.2:p.Asp323Val |
4/6075 | 0.00033 | 1 | Pathogenic | |
| View | 1 | 27056211 | 27056211 | C > T | TRNAN-GUU ARID1A |
NM_006015.4:c.1207C>T NM_139135.2:c.1207C>T |
NP_006006.3:p.Gln403Ter NP_624361.1:p.Gln403Ter |
2/4281 | 0.00023 | 1 | premature_stop | Pathogenic |
| View | 1 | 40542587 | 40542587 | T > A | PPT1 TRNAN-GUU |
NM_001142604.1:c.418-2A>T NM_000310.3:c.727-2A>T |
5/6075 | 0.00041 | 1 | Pathogenic | ||
| View | 1 | 43221287 | 43221287 | G > A | TRNAN-GUU P3H1 |
NM_001243246.1:c.1102C>T NM_001146289.1:c.1102C>T ENST00000296388.5:c.1102C>T |
NP_001230175.1:p.Arg368Ter NP_001139761.1:p.Arg368Ter ENSP00000296388.5:p.Arg368Ter |
1/6075 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 45973216 | 45973217 | - > A | TRNAN-GUU MMACHC |
NM_015506.2:c.271dupA |
NP_056321.2:p.Arg91LysfsTer14 |
21/6075 | 0.00173 | 1 | Pathogenic | |
| View | 1 | 46658069 | 46658069 | G > A | TRNAN-GUU POMGNT1 |
ENST00000371984.3:c.1324C>T ENST00000371992.1:c.1324C>T |
ENSP00000361052.3:p.Arg442Cys ENSP00000361060.1:p.Arg442Cys |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 1 | 63868019 | 63868019 | G > A | ALG6 TRNAN-GUU |
NM_013339.3:c.257+5G>A |
12/6075 | 0.00107 | 1 | Pathogenic | ||
| View | 1 | 76198337 | 76198337 | G > A | TRNAN-GUU ACADM |
NM_000016.4:c.127G>A NM_001127328.1:c.139G>A |
NP_000007.1:p.Glu43Lys NP_001120800.1:p.Glu47Lys |
41/6075 | 0.00337 | 1 | Pathogenic | |
| View | 1 | 76211473 | 76211473 | G > A | ACADM TRNAN-GUU |
NM_001127328.1:c.612-18G>A NM_000016.4:c.600-18G>A |
7/6075 | 0.00058 | 1 | Pathogenic | ||
| View | 1 | 76215129 | 76215129 | C > T | TRNAN-GUU ACADM |
NM_000016.4:c.734C>T NM_001127328.1:c.746C>T |
NP_000007.1:p.Ser245Leu NP_001120800.1:p.Ser249Leu |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 1 | 76215194 | 76215194 | G > A | TRNAN-GUU ACADM |
NM_000016.4:c.799G>A NM_001127328.1:c.811G>A |
NP_000007.1:p.Gly267Arg NP_001120800.1:p.Gly271Arg |
3/6075 | 0.00025 | 1 | Pathogenic | |
| View | 1 | 76215245 | 76215245 | G > A | ACADM TRNAN-GUU |
NM_001127328.1:c.861+1G>A NM_000016.4:c.849+1G>A |
1/6075 | 8.0e-05 | 2 | donor_site | Pathogenic | |
| View | 1 | 76226846 | 76226846 | A > G | TRNAN-GUU ACADM |
NM_000016.4:c.985A>G NM_001127328.1:c.997A>G |
NP_000007.1:p.Lys329Glu NP_001120800.1:p.Lys333Glu |
82/6075 | 0.007 | 1 | Pathogenic | |
| View | 1 | 76226906 | 76226906 | C > T | TRNAN-GUU ACADM |
NM_000016.4:c.1045C>T NM_001127328.1:c.1057C>T |
NP_000007.1:p.Arg349Ter NP_001120800.1:p.Arg353Ter |
1/6075 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 109441560 | 109441560 | C > - | TRNAN-GUU GPSM2 |
NM_013296.4:c.742del |
NP_037428.3:p.Gly249GlufsTer32 |
2/4281 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 109465069 | 109465069 | G > - | TRNAN-GUU GPSM2 |
NM_013296.4:c.1473del |
NP_037428.3:p.Phe492SerfsTer5 |
2/4281 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 155261636 | 155261636 | C > T | PKLR |
NM_181871.3:c.1436G>A NM_000298.5:c.1529G>A |
NP_870986.1:p.Arg479Gln NP_000289.1:p.Arg510Gln |
19/6075 | 0.00156 | 1 | Pathogenic | |
| View | 1 | 156106776 | 156106776 | G > A | LMNA |
NR_047544.1:n.2086G>A NM_005572.3:c.1445G>A NM_170708.3:c.1445G>A NR_047545.1:n.1333G>A NM_170707.3:c.1445G>A NM_001257374.1:c.1109G>A |
NP_005563.1:p.Arg482Gln NP_733822.1:p.Arg482Gln NP_733821.1:p.Arg482Gln NP_001244303.1:p.Arg370Gln |
1/4933 | 0.0001 | 1 | Pathogenic | |
| View | 1 | 197411405 | 197411405 | G > - | CRB1 |
NR_047564.1:n.4197del ENST00000367400.3:c.3988del NR_047563.1:n.3989del ENST00000367399.2:c.3652del ENST00000538660.1:c.2380del ENST00000535699.1:c.3916del |
ENSP00000356370.3:p.Glu1330SerfsTer11 ENSP00000356369.2:p.Glu1218SerfsTer11 ENSP00000438091.1:p.Glu794SerfsTer11 ENSP00000438786.1:p.Glu1306SerfsTer11 |
2/4281 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 209961939 | 209961948 | GAAATCACCA > - | IRF6 |
NM_006147.3:c.1221_1230del NM_001206696.1:c.936_945del |
NP_006138.1:p.Gly408HisfsTer26 NP_001193625.1:p.Gly313HisfsTer26 |
1/4281 | 0.00012 | 1 | frameshift | Pathogenic |
| View | 1 | 216497582 | 216497582 | C > A | USH2A |
ENST00000307340.3:c.1256G>T ENST00000366942.3:c.1256G>T |
ENSP00000305941.3:p.Cys419Phe ENSP00000355909.3:p.Cys419Phe |
3/6075 | 0.00025 | 1 | Pathogenic | |
| View | 1 | 235564868 | 235564879 | GGGAGCCACGAA > - | TBCE |
NM_003193.3:c.155_166del NM_001079515.1:c.155_166del |
NP_003184.1:p.Ser52_Gly55del NP_001072983.1:p.Ser52_Gly55del |
2/6075 | 0.00033 | 1 | Pathogenic | |
| View | 1 | 245026981 | 245026982 | - > C | HNRNPU |
NM_004501.3:c.628dupG NM_031844.2:c.628dupG |
NP_004492.2:p.Ala210GlyfsTer14 NP_114032.2:p.Ala210GlyfsTer4 |
1/4281 | 0.00012 | 1 | frameshift | Pathogenic |
| View | 10 | 14987109 | 14987109 | G > A | DCLRE1C |
NM_001033858.1:c.-442C>T NM_001033857.1:c.-120C>T NM_001033855.1:c.241C>T NM_022487.2:c.-49C>T |
NP_001029027.1:p.Arg81Ter |
1/6075 | 0.00016 | 1 | Pathogenic | |
| View | 10 | 43617416 | 43617416 | T > C | RET |
ENST00000355710.3:c.2753T>C ENST00000340058.5:c.2753T>C |
ENSP00000347942.3:p.Met918Thr ENSP00000344798.4:p.Met918Thr |
2/4281 | 0.00023 | 1 | Pathogenic | |
| View | 10 | 50678470 | 50678470 | T > - | ERCC6 |
NM_000124.3:c.3536del |
NP_000115.1:p.Tyr1179LeufsTer22 |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 10 | 50738843 | 50738843 | G > A | ERCC6-PGBD3 ERCC6 |
NM_001277059.1:c.466C>T NM_001277058.1:c.466C>T NM_000124.3:c.466C>T |
NP_001263988.1:p.Gln156Ter NP_001263987.1:p.Gln156Ter NP_000115.1:p.Gln156Ter |
1/6075 | 8.0e-05 | 1 | Pathogenic | |
| View | 10 | 72360387 | 72360387 | G > A | PRF1 |
NM_001083116.1:c.272C>T NM_005041.4:c.272C>T |
NP_001076585.1:p.Ala91Val NP_005032.2:p.Ala91Val |
492/6075 | 0.04206 | 1 | Susceptibility factor for HLH when present with a second pathogenic variant. Not pathogenic alone. | Pathogenic |
| View | 10 | 79753125 | 79753125 | G > A | POLR3A |
NM_007055.3:c.2617C>T |
NP_008986.2:p.Arg873Ter |
3/4281 | 0.00035 | 1 | premature_stop | Pathogenic |
| View | 10 | 79769277 | 79769277 | C > T | POLR3A |
NM_007055.3:c.1909+18G>A |
2/4281 | 0.00023 | 1 | Pathogenic | ||
| View | 10 | 89692769 | 89692769 | G > A | PTEN |
NM_000314.4:c.254-1G>A |
1/4933 | 0.0001 | 2 | acceptor_site | Pathogenic | |
| View | 10 | 89711913 | 89711913 | T > G | PTEN |
NM_000314.4:c.531T>G |
NP_000305.3:p.Tyr177Ter |
1/4933 | 0.0001 | 2 | premature_stop | Pathogenic |
| View | 10 | 123274794 | 123274794 | T > C | FGFR2 |
NM_001144914.1:c.788A>G NM_001144916.1:c.779A>G NM_000141.4:c.1124A>G NM_001144919.1:c.860A>G NR_073009.1:n.1574A>G NM_022970.3:c.1127A>G NM_001144915.1:c.857A>G NM_001144918.1:c.779A>G NM_001144913.1:c.1127A>G NM_023029.2:c.857A>G NM_001144917.1:c.939+4699A>G |
NP_001138386.1:p.Tyr263Cys NP_001138388.1:p.Tyr260Cys NP_000132.3:p.Tyr375Cys NP_001138391.1:p.Tyr287Cys NP_075259.4:p.Tyr376Cys NP_001138387.1:p.Tyr286Cys NP_001138390.1:p.Tyr260Cys NP_001138385.1:p.Tyr376Cys NP_075418.1:p.Tyr286Cys |
1/4281 | 0.00012 | 1 | Pathogenic | |
| View | 11 | 2181258 | 2181258 | C > T | INS-IGF2 INS |
NR_003512.3:n.246+757G>A NM_001185097.1:c.188-31G>A NM_001185098.1:c.188-31G>A NM_001042376.2:c.187+757G>A NM_000207.2:c.188-31G>A |
1/4281 | 0.00012 | 1 | Pathogenic | ||
| View | 11 | 5248184 | 5248184 | T > G | HBB |
NM_000518.4:c.68A>C |
NP_000509.1:p.Glu23Ala |
3/6075 | 0.00025 | 1 | Pathogenic | |
| View | 11 | 5248232 | 5248232 | T > A | HBB |
NM_000518.4:c.20A>T |
NP_000509.1:p.Glu7Val |
46/6075 | 0.00412 | 1 | Pathogenic | |
| View | 11 | 5248233 | 5248233 | C > T | HBB |
NM_000518.4:c.19G>A |
NP_000509.1:p.Glu7Lys |
7/6075 | 0.00058 | 1 | Pathogenic | |
| View | 11 | 17424218 | 17424218 | G > A | ABCC8 |
NM_000352.3:c.3640C>T |
NP_000343.2:p.Arg1214Trp |
2/6075 | 0.00016 | 1 | Pathogenic | |
| View | 11 | 36595629 | 36595629 | A > - | RAG1 |
ENST00000299440.5:c.775del |
ENSP00000299440.5:p.Ser259AlafsTer5 |
1/6075 | 0.00016 | 1 | Pathogenic | |
| View | 11 | 47469631 | 47469631 | G > T | RAPSN |
NM_005055.4:c.264C>A NM_032645.4:c.264C>A |
NP_005046.2:p.Asn88Lys NP_116034.2:p.Asn88Lys |
30/6075 | 0.00247 | 1 | Pathogenic | |
| View | 11 | 64527223 | 64527223 | G > A | PYGM |
NM_001164716.1:c.148C>T NM_005609.2:c.148C>T |
NP_001158188.1:p.Arg50Ter NP_005600.1:p.Arg50Ter |
13/4933 | 0.00132 | 1 | Pathogenic | |
| View | 11 | 65307505 | 65307505 | G > A | LTBP3 |
NM_001130144.2:c.3364C>T NM_021070.4:c.3245-153C>T NM_001164266.1:c.2894-153C>T |
NP_001123616.1:p.Gln1122Ter |
1/4281 | 0.00012 | 2 | premature_stop | Pathogenic |