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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 10 | 50713929 | 50713929 | C > A | ERCC6 |
NM_000124.3:c.1526+1G>T |
6/8745 | 0.0004 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 10 | 50738843 | 50738843 | G > A | ERCC6-PGBD3 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 |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 10 | 72360387 | 72360387 | G > A | PRF1 PRF1 |
NM_001083116.1:c.272C>T NM_005041.4:c.272C>T |
NP_001076585.1:p.Ala91Val NP_005032.2:p.Ala91Val |
694/8745 | 0.04105 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 10 | 73082812 | 73082812 | G > A | SLC29A3 SLC29A3 SLC29A3 SLC29A3 |
NM_001174098.1:c.300+1G>A NM_018344.5:c.300+1G>A NR_033414.1:n.357+1G>A NR_033413.1:n.357+1G>A |
3/6955 | 0.00029 | 1 | Pathogenic | ||
| View | 10 | 79753125 | 79753125 | G > A | POLR3A |
NM_007055.3:c.2617C>T |
NP_008986.2:p.Arg873Ter |
4/6955 | 0.00029 | 1 | Pathogenic | |
| View | 10 | 79769273 | 79769273 | C > T | POLR3A |
NM_007055.3:c.1909+22G>A |
32/6916 | 0.00231 | 1 | Pathogenic | ||
| View | 10 | 79769277 | 79769277 | C > T | POLR3A |
NM_007055.3:c.1909+18G>A |
2/6916 | 0.00014 | 1 | Pathogenic | ||
| View | 10 | 89692769 | 89692769 | G > A | PTEN |
NM_000314.4:c.254-1G>A |
1/7607 | 7.0e-05 | 1 | Pathogenic | ||
| View | 10 | 89711913 | 89711913 | T > G | PTEN |
NM_000314.4:c.531T>G |
NP_000305.3:p.Tyr177Ter |
1/7607 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 10 | 97453654 | 97453654 | C > A | TCTN3 TCTN3 |
NM_015631.5:c.3G>T NM_001143973.1:c.3G>T |
NP_056446.4:p.Met1? NP_001137445.1:p.Met1? |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 10 | 123274794 | 123274794 | T > C | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1574A>G NM_001144913.1:c.1127A>G NM_001144914.1:c.788A>G NM_000141.4:c.1124A>G NM_023029.2:c.857A>G NM_001144919.1:c.860A>G NM_001144915.1:c.857A>G NM_001144916.1:c.779A>G NM_001144917.1:c.939+4699A>G NM_022970.3:c.1127A>G NM_001144918.1:c.779A>G |
NP_001138385.1:p.Tyr376Cys NP_001138386.1:p.Tyr263Cys NP_000132.3:p.Tyr375Cys NP_075418.1:p.Tyr286Cys NP_001138391.1:p.Tyr287Cys NP_001138387.1:p.Tyr286Cys NP_001138388.1:p.Tyr260Cys NP_075259.4:p.Tyr376Cys NP_001138390.1:p.Tyr260Cys |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 299504 | 299504 | G > A | IFITM5 |
NM_001025295.2:c.-14C>T |
1/6916 | 7.0e-05 | 1 | Pathogenic | ||
| View | 11 | 2181258 | 2181258 | C > T | INS INS-IGF2 INS-IGF2 INS INS |
NM_000207.2:c.188-31G>A NR_003512.3:n.246+757G>A NM_001042376.2:c.187+757G>A NM_001185098.1:c.188-31G>A NM_001185097.1:c.188-31G>A |
1/6916 | 7.0e-05 | 1 | Pathogenic | ||
| View | 11 | 2790111 | 2790111 | C > T | KCNQ1 KCNQ1 |
NM_000218.2:c.1552C>T NR_040711.2:n.1445C>T |
NP_000209.2:p.Arg518Ter |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 11 | 5247993 | 5247996 | AAAG > - | HBB |
NM_000518.4:c.126_129del |
NP_000509.1:p.Phe42LeufsTer19 |
2/8745 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 5248232 | 5248232 | T > A | HBB |
NM_000518.4:c.20A>T |
NP_000509.1:p.Glu7Val |
62/8745 | 0.00389 | 1 | Pathogenic | |
| View | 11 | 5248233 | 5248233 | C > T | HBB |
NM_000518.4:c.19G>A |
NP_000509.1:p.Glu7Lys |
14/8745 | 0.0008 | 1 | Pathogenic | |
| View | 11 | 6638385 | 6638385 | C > G | TPP1 |
NM_000391.3:c.509-1G>C |
5/8745 | 0.00029 | 1 | Pathogenic | ||
| View | 11 | 17424218 | 17424218 | G > A | ABCC8 |
NM_000352.3:c.3640C>T |
NP_000343.2:p.Arg1214Trp |
3/8954 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 36595629 | 36595629 | A > - | RAG1 |
ENST00000299440.5:c.775del |
ENSP00000299440.5:p.Ser259AlafsTer5 |
1/8745 | 0.00011 | 1 | Pathogenic | |
| View | 11 | 47469631 | 47469631 | G > T | RAPSN RAPSN |
NM_032645.4:c.264C>A NM_005055.4:c.264C>A |
NP_116034.2:p.Asn88Lys NP_005046.2:p.Asn88Lys |
37/8745 | 0.00212 | 1 | Pathogenic | |
| View | 11 | 64527223 | 64527223 | G > A | PYGM PYGM |
NM_005609.2:c.148C>T NM_001164716.1:c.148C>T |
NP_005600.1:p.Arg50Ter NP_001158188.1:p.Arg50Ter |
28/7607 | 0.00184 | 1 | Pathogenic | |
| View | 11 | 65307505 | 65307505 | G > A | LTBP3 LTBP3 LTBP3 |
NM_021070.4:c.3245-153C>T NM_001130144.2:c.3364C>T NM_001164266.1:c.2894-153C>T |
NP_001123616.1:p.Gln1122Ter |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 65978677 | 65978677 | C > T | PACS1 |
NM_018026.3:c.607C>T |
NP_060496.2:p.Arg203Trp |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 66293652 | 66293652 | T > G | BBS1 |
NM_024649.4:c.1169T>G |
NP_078925.3:p.Met390Arg |
48/6955 | 0.00359 | 1 | Pathogenic | |
| View | 11 | 68701322 | 68701322 | C > T | IGHMBP2 |
NM_002180.2:c.1478C>T |
NP_002171.2:p.Thr493Ile |
6/8745 | 0.00034 | 1 | Pathogenic | |
| View | 11 | 68701332 | 68701332 | C > A | IGHMBP2 |
NM_002180.2:c.1488C>A |
NP_002171.2:p.Cys496Ter |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 11 | 68703756 | 68703756 | G > A | IGHMBP2 |
NM_002180.2:c.1808G>A |
NP_002171.2:p.Arg603His |
5/8745 | 0.00034 | 1 | Pathogenic | |
| View | 11 | 68707126 | 68707127 | AG > - | IGHMBP2 |
NM_002180.2:c.2911_2912del |
NP_002171.2:p.Arg971GlufsTer4 |
5/8745 | 0.00029 | 1 | Pathogenic | |
| View | 11 | 71146886 | 71146886 | C > G | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>C NM_001360.2:c.964-1G>C |
117/8745 | 0.00675 | 1 | Pathogenic | ||
| View | 11 | 71152447 | 71152447 | C > T | DHCR7 DHCR7 |
NM_001163817.1:c.452G>A NM_001360.2:c.452G>A |
NP_001157289.1:p.Trp151Ter NP_001351.2:p.Trp151Ter |
17/8745 | 0.00097 | 1 | Pathogenic | |
| View | 11 | 71155998 | 71155998 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.1A>G NM_001360.2:c.1A>G |
NP_001157289.1:p.Met1? NP_001351.2:p.Met1? |
3/8745 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 103091449 | 103091449 | A > G | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.9044A>G NM_001377.2:c.9044A>G |
NP_001073932.1:p.Asp3015Gly NP_001368.2:p.Asp3015Gly |
9/8745 | 0.00051 | 1 | Pathogenic | |
| View | 11 | 103187273 | 103187273 | G > A | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.11671-1G>A NM_001377.2:c.11650-1G>A |
1/8745 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 11 | 108010834 | 108010834 | C > T | ACAT1 |
NM_000019.3:c.622C>T |
NP_000010.1:p.Arg208Ter |
3/8745 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 108121753 | 108121754 | AG > - | ATM |
ENST00000278616.4:c.1564_1565del |
ENSP00000278616.4:p.Glu522IlefsTer43 |
3/8745 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 118375197 | 118375197 | C > T | KMT2A KMT2A |
NM_001197104.1:c.8590C>T NM_005933.3:c.8581C>T |
NP_001184033.1:p.Gln2864Ter NP_005924.2:p.Gln2861Ter |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 118390416 | 118390416 | C > T | KMT2A KMT2A |
NM_001197104.1:c.11230C>T NM_005933.3:c.11221C>T |
NP_001184033.1:p.Arg3744Ter NP_005924.2:p.Arg3741Ter |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 119148880 | 119148880 | A > C | CBL |
NM_005188.3:c.1100A>C |
NP_005179.2:p.Gln367Pro |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 12 | 5021268 | 5021268 | G > C | KCNA1 |
NM_000217.2:c.724G>C |
NP_000208.2:p.Ala242Pro |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 12 | 6143978 | 6143978 | C > T | VWF |
ENST00000261405.5:c.2561G>A |
ENSP00000261405.5:p.Arg854Gln |
65/6955 | 0.00474 | 1 | Pathogenic | |
| View | 12 | 48373317 | 48373317 | G > A | COL2A1 COL2A1 |
NM_033150.2:c.2503C>T NM_001844.4:c.2710C>T |
NP_149162.2:p.Arg835Cys NP_001835.3:p.Arg904Cys |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 48374723 | 48374723 | C > A | COL2A1 COL2A1 |
NM_033150.2:c.2285G>T NM_001844.4:c.2492G>T |
NP_149162.2:p.Gly762Val NP_001835.3:p.Gly831Val |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49420661 | 49420661 | G > A | KMT2D |
NM_003482.3:c.15088C>T |
NP_003473.3:p.Arg5030Cys |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 49432295 | 49432298 | TGGA > - | KMT2D |
NM_003482.3:c.8841_8844del |
NP_003473.3:p.His2947GlnfsTer56 |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49445620 | 49445621 | - > A | KMT2D |
NM_003482.3:c.1845dupT |
NP_003473.3:p.Pro616SerfsTer7 |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49579508 | 49579508 | C > T | TUBA1A TUBA1A TUBA1A |
NM_001270399.1:c.641G>A NM_006009.3:c.641G>A NM_001270400.1:c.536G>A |
NP_001257328.1:p.Arg214His NP_006000.2:p.Arg214His NP_001257329.1:p.Arg179His |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 52200900 | 52200900 | A > G | SCN8A SCN8A |
NM_014191.3:c.5630A>G NM_001177984.2:c.5507A>G |
NP_055006.1:p.Asn1877Ser NP_001171455.1:p.Asn1836Ser |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 53715207 | 53715207 | G > T | AAAS AAAS |
NM_001173466.1:c.43C>A NM_015665.5:c.43C>A |
NP_001166937.1:p.Gln15Lys NP_056480.1:p.Gln15Lys |
5/8745 | 0.00029 | 1 | Pathogenic | |
| View | 12 | 88524101 | 88524101 | G > A | CEP290 |
ENST00000552810.1:c.613C>T |
ENSP00000448012.1:p.Arg205Ter |
2/8745 | 0.00011 | 1 | Pathogenic |