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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 12 | 110011274 | 110011274 | G > T | MMAB MMAB |
NR_038118.1:n.85C>A NM_052845.3:c.12C>A |
NP_443077.1:p.Cys4Ter |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 12 | 112888156 | 112888156 | A > C | PTPN11 PTPN11 |
NM_002834.3:c.172A>C NM_080601.1:c.172A>C |
NP_002825.3:p.Asn58His NP_542168.1:p.Asn58His |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112888198 | 112888198 | G > T | PTPN11 PTPN11 |
NM_002834.3:c.214G>T NM_080601.1:c.214G>T |
NP_002825.3:p.Ala72Ser NP_542168.1:p.Ala72Ser |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 112888202 | 112888202 | C > T | PTPN11 PTPN11 |
NM_002834.3:c.218C>T NM_080601.1:c.218C>T |
NP_002825.3:p.Thr73Ile NP_542168.1:p.Thr73Ile |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 112915523 | 112915523 | A > G | PTPN11 PTPN11 |
NM_002834.3:c.922A>G NM_080601.1:c.922A>G |
NP_002825.3:p.Asn308Asp NP_542168.1:p.Asn308Asp |
4/9594 | 0.00021 | 1 | Pathogenic | |
| View | 12 | 112926258 | 112926258 | G > C | PTPN11 |
NM_002834.3:c.1391G>C |
NP_002825.3:p.Gly464Ala |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 112926897 | 112926897 | A > C | PTPN11 |
NM_002834.3:c.1517A>C |
NP_002825.3:p.Gln506Pro |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 114836432 | 114836432 | G > - | TBX5 TBX5 TBX5 |
NM_181486.2:c.456del NM_000192.3:c.456del NM_080717.2:c.306del |
NP_852259.1:p.Val153SerfsTer21 NP_000183.2:p.Val153SerfsTer21 NP_542448.1:p.Val103SerfsTer21 |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 13 | 20763582 | 20763582 | C > A | GJB2 |
NM_004004.5:c.139G>T |
NP_003995.2:p.Glu47Ter |
7/11422 | 0.00031 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > - | GJB2 |
NM_004004.5:c.35del |
NP_003995.2:p.Gly12ValfsTer2 |
217/11422 | 0.00963 | 1 | Pathogenic | |
| View | 13 | 31843415 | 31843415 | G > A | B3GLCT |
NM_194318.3:c.660+1G>A |
13/9594 | 0.00068 | 1 | Pathogenic | ||
| View | 13 | 36903553 | 36903553 | T > - | SPART SPART SPART SPART |
NM_001142295.1:c.1110del NM_001142294.1:c.1110del NM_015087.4:c.1110del NM_001142296.1:c.1110del |
NP_001135767.1:p.Lys370AsnfsTer30 NP_001135766.1:p.Lys370AsnfsTer30 NP_055902.1:p.Lys370AsnfsTer30 NP_001135768.1:p.Lys370AsnfsTer30 |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
86/9594 | 0.00448 | 1 | Pathogenic | |
| View | 13 | 41381515 | 41381515 | G > A | TPTE2P5 TPTE2P5 SLC25A15 |
NR_038259.1:n.452-6655C>T NR_038258.1:n.623-6655C>T NM_014252.3:c.538G>A |
NP_055067.1:p.Glu180Lys |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 13 | 51519581 | 51519581 | G > A | RNASEH2B RNASEH2B |
NM_001142279.2:c.529G>A NM_024570.3:c.529G>A |
NP_001135751.1:p.Ala177Thr NP_078846.2:p.Ala177Thr |
53/11422 | 0.00236 | 1 | Pathogenic | |
| View | 13 | 108861177 | 108861177 | G > A | LIG4 LIG4 LIG4 |
NM_002312.3:c.2440C>T NM_001098268.1:c.2440C>T NM_206937.1:c.2440C>T |
NP_002303.2:p.Arg814Ter NP_001091738.1:p.Arg814Ter NP_996820.1:p.Arg814Ter |
6/11422 | 0.00026 | 1 | Pathogenic | |
| View | 13 | 108861713 | 108861713 | T > - | LIG4 LIG4 LIG4 |
NM_002312.3:c.1904del NM_001098268.1:c.1904del NM_206937.1:c.1904del |
NP_002303.2:p.Lys635ArgfsTer10 NP_001091738.1:p.Lys635ArgfsTer10 NP_996820.1:p.Lys635ArgfsTer10 |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 13 | 108861879 | 108861879 | G > A | LIG4 LIG4 LIG4 |
NM_002312.3:c.1738C>T NM_001098268.1:c.1738C>T NM_206937.1:c.1738C>T |
NP_002303.2:p.Arg580Ter NP_001091738.1:p.Arg580Ter NP_996820.1:p.Arg580Ter |
5/11422 | 0.00022 | 1 | Pathogenic | |
| View | 13 | 115091444 | 115091444 | T > G | CHAMP1 CHAMP1 CHAMP1 |
NM_032436.2:c.2127T>G NM_001164145.1:c.2127T>G NM_001164144.1:c.2127T>G |
NP_115812.1:p.Tyr709Ter NP_001157617.1:p.Tyr709Ter NP_001157616.1:p.Tyr709Ter |
1/9594 | 5.0e-05 | 1 | premature_stop | Pathogenic |
| View | 14 | 24550680 | 24550680 | A > G | NRL |
NM_006177.3:c.479T>C |
NP_006168.1:p.Leu160Pro |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 24729019 | 24729019 | T > C | TGM1 |
NM_000359.2:c.877-2A>G |
14/11422 | 0.00061 | 1 | Pathogenic | ||
| View | 14 | 24729150 | 24729150 | C > T | TGM1 |
NM_000359.2:c.872G>A |
NP_000350.1:p.Gly291Asp |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 14 | 29237285 | 29237285 | G > A | FOXG1 |
NM_005249.4:c.800G>A |
NP_005240.3:p.Gly267Asp |
1/10293 | 5.0e-05 | 1 | non_synonymous | Pathogenic |
| View | 14 | 50628269 | 50628269 | G > C | SOS2 |
NM_006939.2:c.1127C>G |
NP_008870.2:p.Thr376Ser |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 14 | 50768850 | 50768850 | T > C | L2HGDH |
NM_024884.2:c.293A>G |
NP_079160.1:p.His98Arg |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 58899157 | 58899157 | G > - | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.392del NM_001244189.1:c.428del NM_001244190.1:c.347del NM_001244191.1:c.137del NM_001244192.1:c.137del |
NP_055564.3:p.Arg131LysfsTer4 NP_001231118.1:p.Arg143LysfsTer4 NP_001231119.1:p.Arg116LysfsTer4 NP_001231120.1:p.Arg46LysfsTer4 NP_001231121.1:p.Arg46LysfsTer4 |
75/9555 | 0.00398 | 1 | Pathogenic | |
| View | 14 | 58923419 | 58923419 | G > C | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.1254-1G>C NM_001244189.1:c.1413-1G>C NM_001244190.1:c.1209-1G>C NM_001244191.1:c.999-1G>C NM_001244192.1:c.1122-1G>C NM_001244193.1:c.834-1G>C |
6/9555 | 0.00031 | 1 | Pathogenic | ||
| View | 14 | 61446301 | 61446304 | TATT > - | TRMT5 |
NM_020810.2:c.312_315del |
NP_065861.2:p.Ile105SerfsTer4 |
20/9555 | 0.00105 | 1 | Pathogenic | |
| View | 14 | 76429687 | 76429687 | G > A | TGFB3 |
NM_003239.2:c.898C>T |
NP_003230.1:p.Arg300Trp |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 14 | 88431926 | 88431926 | T > C | GALC GALC |
ENST00000261304.2:c.956A>G ENST00000393569.2:c.878A>G |
ENSP00000261304.2:p.Tyr319Cys ENSP00000377199.2:p.Tyr293Cys |
8/11422 | 0.00035 | 1 | Pathogenic | |
| View | 14 | 88442826 | 88442826 | T > A | GALC GALC |
ENST00000261304.2:c.628A>T ENST00000393569.2:c.550A>T |
ENSP00000261304.2:p.Arg210Ter ENSP00000377199.2:p.Arg184Ter |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 14 | 88452926 | 88452926 | T > C | GALC GALC |
ENST00000261304.2:c.349A>G ENST00000393569.2:c.271A>G |
ENSP00000261304.2:p.Met117Val ENSP00000377199.2:p.Met91Val |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 14 | 88459314 | 88459314 | C > G | GALC GALC |
ENST00000261304.2:c.195G>C ENST00000393569.2:c.117+413G>C |
ENSP00000261304.2:p.Gly65= |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 14 | 88883104 | 88883104 | T > A | SPATA7 SPATA7 |
NM_001040428.3:c.192T>A NM_018418.4:c.288T>A |
NP_001035518.1:p.Cys64Ter NP_060888.2:p.Cys96Ter |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 102469031 | 102469031 | G > A | DYNC1H1 |
NM_001376.4:c.4700G>A |
NP_001367.2:p.Arg1567Gln |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 15 | 25615817 | 25615817 | G > A | UBE3A UBE3A UBE3A |
NM_130839.2:c.1504C>T NM_130838.1:c.1444C>T NM_000462.3:c.1513C>T |
NP_570854.1:p.Arg502Ter NP_570853.1:p.Arg482Ter NP_000453.2:p.Arg505Ter |
1/10293 | 5.0e-05 | 1 | Pathogenic | |
| View | 15 | 28228529 | 28228529 | T > C | OCA2 |
NM_000275.2:c.1465A>G |
NP_000266.2:p.Asn489Asp |
13/9594 | 0.00068 | 1 | Pathogenic | |
| View | 15 | 40707653 | 40707653 | C > T | IVD IVD |
NM_002225.3:c.941C>T NM_001159508.1:c.851C>T |
NP_002216.2:p.Ala314Val NP_001152980.1:p.Ala284Val |
22/11422 | 0.00105 | 1 | Pathogenic | |
| View | 15 | 43695895 | 43695895 | G > T | TUBGCP4 |
NM_014444.2:c.1746G>T |
NP_055259.2:p.Leu582= |
11/9594 | 0.00057 | 1 | Pathogenic | |
| View | 15 | 45393426 | 45393429 | GAAC > - | DUOX2 |
NM_014080.4:c.2895_2898del |
NP_054799.4:p.Phe966SerfsTer29 |
45/9594 | 0.00235 | 1 | Pathogenic | |
| View | 15 | 48703280 | 48703283 | TTCT > - | FBN1 |
ENST00000316623.5:c.8520_8523del |
ENSP00000325527.5:p.Lys2840AsnfsTer5 |
2/9594 | 0.0001 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 48779298 | 48779298 | G > T | FBN1 |
ENST00000316623.5:c.3563C>A |
ENSP00000325527.5:p.Ser1188Ter |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 48782159 | 48782166 | CAGTACCC > - | FBN1 |
ENST00000316623.5:c.2964_2971del |
ENSP00000325527.5:p.Trp988Ter |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 15 | 48800830 | 48800830 | A > C | FBN1 |
ENST00000316623.5:c.1786T>G |
ENSP00000325527.5:p.Cys596Gly |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 15 | 57554311 | 57554312 | - > CT | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207040.1:c.908_909dupCT NM_003205.3:c.1418_1419dupCT NM_207038.1:c.1418_1419dupCT NM_207037.1:c.1490_1491dupCT NM_207036.1:c.1490_1491dupCT |
NP_996923.1:p.Val304LeufsTer22 NP_003196.1:p.Val474LeufsTer22 NP_996921.1:p.Val474LeufsTer22 NP_996920.1:p.Val498LeufsTer22 NP_996919.1:p.Val498LeufsTer22 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 60789728 | 60789728 | G > A | RORA RORA RORA RORA |
ENST00000449337.2:c.1333C>T ENST00000309157.4:c.1573C>T ENST00000335670.6:c.1498C>T ENST00000261523.5:c.1597C>T |
ENSP00000402971.2:p.Arg445Ter ENSP00000309753.3:p.Arg525Ter ENSP00000335087.6:p.Arg500Ter ENSP00000261523.5:p.Arg533Ter |
1/9594 | 5.0e-05 | 2 | premature_stop | Pathogenic |
| View | 15 | 65313871 | 65313871 | G > A | MTFMT |
NM_139242.3:c.626C>T |
NP_640335.2:p.Ser209Leu |
16/9594 | 0.00083 | 1 | Pathogenic | |
| View | 15 | 72638920 | 72638921 | - > GATA | HEXA |
NM_000520.4:c.1274_1277dupTATC |
NP_000511.2:p.Tyr427IlefsTer5 |
7/11422 | 0.00035 | 1 | Pathogenic | |
| View | 15 | 75692449 | 75692450 | - > AG | SIN3A SIN3A SIN3A |
NM_001145358.1:c.1784_1785dupCT NM_001145357.1:c.1784_1785dupCT NM_015477.2:c.1784_1785dupCT |
NP_001138830.1:p.Thr596LeufsTer4 NP_001138829.1:p.Thr596LeufsTer4 NP_056292.1:p.Thr596LeufsTer4 |
1/9555 | 5.0e-05 | 1 | frameshift | Pathogenic |
| View | 15 | 85186950 | 85186950 | A > - | WDR73 |
NM_032856.2:c.888del |
NP_116245.2:p.Phe296LeufsTer26 |
3/9594 | 0.00021 | 1 | Pathogenic |