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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 | 103234271 | 103234271 | G > A | PAH |
ENST00000553106.1:c.1222C>T |
ENSP00000448059.1:p.Arg408Trp |
14/8004 | 0.00087 | 1 | Pathogenic | |
| View | 12 | 103238146 | 103238146 | C > A | PAH |
ENST00000553106.1:c.1033G>T |
ENSP00000448059.1:p.Ala345Ser |
1/8004 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 103246653 | 103246653 | C > T | PAH |
ENST00000553106.1:c.782G>A |
ENSP00000448059.1:p.Arg261Gln |
6/8004 | 0.00037 | 1 | Pathogenic | |
| View | 12 | 103249093 | 103249093 | C > A | PAH |
ENST00000553106.1:c.527G>T |
ENSP00000448059.1:p.Arg176Leu |
3/8004 | 0.00019 | 1 | Pathogenic | |
| View | 12 | 103306594 | 103306594 | A > G | PAH |
ENST00000553106.1:c.143T>C |
ENSP00000448059.1:p.Leu48Ser |
8/8004 | 0.0005 | 1 | Pathogenic | |
| View | 12 | 109994886 | 109994886 | G > A | MMAB MMAB |
NR_038118.1:n.860C>T NM_052845.3:c.700C>T |
NP_443077.1:p.Gln234Ter |
4/8004 | 0.00025 | 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 |
2/6213 | 0.00016 | 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 |
1/6213 | 8.0e-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 |
1/6213 | 8.0e-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 |
4/6213 | 0.00032 | 1 | Pathogenic | |
| View | 12 | 112926258 | 112926258 | G > C | PTPN11 |
NM_002834.3:c.1391G>C |
NP_002825.3:p.Gly464Ala |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 12 | 112926897 | 112926897 | A > C | PTPN11 |
NM_002834.3:c.1517A>C |
NP_002825.3:p.Gln506Pro |
1/6213 | 8.0e-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 |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 13 | 20763582 | 20763582 | C > A | GJB2 |
NM_004004.5:c.139G>T |
NP_003995.2:p.Glu47Ter |
6/8004 | 0.00037 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > - | GJB2 |
NM_004004.5:c.35del |
NP_003995.2:p.Gly12ValfsTer2 |
161/8004 | 0.01024 | 1 | Pathogenic | |
| View | 13 | 31843415 | 31843415 | G > A | B3GLCT |
NM_194318.3:c.660+1G>A |
8/6213 | 0.00064 | 1 | Pathogenic | ||
| View | 13 | 41381515 | 41381515 | G > A | TPTE2P5 SLC25A15 TPTE2P5 |
NR_038258.1:n.623-6655C>T NM_014252.3:c.538G>A NR_038259.1:n.452-6655C>T |
NP_055067.1:p.Glu180Lys |
2/8004 | 0.00012 | 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 |
42/8004 | 0.00269 | 1 | Pathogenic | |
| View | 13 | 52524205 | 52524205 | C > T | ATP7B ATP7B ATP7B |
NM_001243182.1:c.2335G>A NM_001005918.2:c.2182G>A NM_000053.3:c.2668G>A |
NP_001230111.1:p.Val779Met NP_001005918.1:p.Val728Met NP_000044.2:p.Val890Met |
4/8223 | 0.00024 | 1 | Pathogenic | |
| View | 13 | 108861713 | 108861713 | T > - | LIG4 LIG4 LIG4 |
NM_002312.3:c.1904del NM_206937.1:c.1904del NM_001098268.1:c.1904del |
NP_002303.2:p.Lys635ArgfsTer10 NP_996820.1:p.Lys635ArgfsTer10 NP_001091738.1:p.Lys635ArgfsTer10 |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 14 | 24729019 | 24729019 | T > C | TGM1 |
NM_000359.2:c.877-2A>G |
14/8004 | 0.00087 | 1 | Pathogenic | ||
| View | 14 | 24729150 | 24729150 | C > T | TGM1 |
NM_000359.2:c.872G>A |
NP_000350.1:p.Gly291Asp |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 14 | 50628269 | 50628269 | G > C | SOS2 |
NM_006939.2:c.1127C>G |
NP_008870.2:p.Thr376Ser |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 58899157 | 58899157 | G > - | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.392del NM_001244191.1:c.137del NM_001244190.1:c.347del NM_001244192.1:c.137del NM_001244189.1:c.428del |
NP_055564.3:p.Arg131LysfsTer4 NP_001231120.1:p.Arg46LysfsTer4 NP_001231119.1:p.Arg116LysfsTer4 NP_001231121.1:p.Arg46LysfsTer4 NP_001231118.1:p.Arg143LysfsTer4 |
52/6174 | 0.00429 | 1 | Pathogenic | |
| View | 14 | 61446301 | 61446304 | TATT > - | TRMT5 |
NM_020810.2:c.312_315del |
NP_065861.2:p.Ile105SerfsTer4 |
16/6174 | 0.0013 | 1 | Pathogenic | |
| View | 14 | 76429687 | 76429687 | G > A | TGFB3 |
NM_003239.2:c.898C>T |
NP_003230.1:p.Arg300Trp |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 88442826 | 88442826 | T > A | GALC GALC |
ENST00000393569.2:c.550A>T ENST00000261304.2:c.628A>T |
ENSP00000377199.2:p.Arg184Ter ENSP00000261304.2:p.Arg210Ter |
1/8004 | 6.0e-05 | 1 | Pathogenic | |
| View | 14 | 88452926 | 88452926 | T > C | GALC GALC |
ENST00000393569.2:c.271A>G ENST00000261304.2:c.349A>G |
ENSP00000377199.2:p.Met91Val ENSP00000261304.2:p.Met117Val |
1/8004 | 6.0e-05 | 1 | Pathogenic | |
| View | 14 | 88459314 | 88459314 | C > G | GALC GALC |
ENST00000393569.2:c.117+413G>C ENST00000261304.2:c.195G>C |
ENSP00000261304.2:p.Gly65= |
2/8004 | 0.00012 | 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 |
2/6213 | 0.00016 | 1 | Pathogenic | |
| View | 15 | 25615817 | 25615817 | G > A | UBE3A UBE3A UBE3A |
NM_130839.2:c.1504C>T NM_000462.3:c.1513C>T NM_130838.1:c.1444C>T |
NP_570854.1:p.Arg502Ter NP_000453.2:p.Arg505Ter NP_570853.1:p.Arg482Ter |
1/6865 | 7.0e-05 | 1 | Pathogenic | |
| View | 15 | 40707653 | 40707653 | C > T | IVD IVD |
NM_001159508.1:c.851C>T NM_002225.3:c.941C>T |
NP_001152980.1:p.Ala284Val NP_002216.2:p.Ala314Val |
18/8004 | 0.00112 | 1 | Pathogenic | |
| View | 15 | 43695895 | 43695895 | G > T | TUBGCP4 |
NM_014444.2:c.1746G>T |
NP_055259.2:p.Leu582= |
9/6213 | 0.00072 | 1 | Pathogenic | |
| View | 15 | 45393426 | 45393429 | GAAC > - | DUOX2 |
NM_014080.4:c.2895_2898del |
NP_054799.4:p.Phe966SerfsTer29 |
27/6213 | 0.00217 | 1 | Pathogenic | |
| View | 15 | 48703280 | 48703283 | TTCT > - | FBN1 |
ENST00000316623.5:c.8520_8523del |
ENSP00000325527.5:p.Lys2840AsnfsTer5 |
2/6213 | 0.00016 | 2 | frameshift | Pathogenic |
| View | 15 | 48779298 | 48779298 | G > T | FBN1 |
ENST00000316623.5:c.3563C>A |
ENSP00000325527.5:p.Ser1188Ter |
1/6213 | 8.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 48782159 | 48782166 | CAGTACCC > - | FBN1 |
ENST00000316623.5:c.2964_2971del |
ENSP00000325527.5:p.Trp988Ter |
2/6213 | 0.00016 | 1 | Pathogenic | |
| View | 15 | 48800830 | 48800830 | A > C | FBN1 |
ENST00000316623.5:c.1786T>G |
ENSP00000325527.5:p.Cys596Gly |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 15 | 57554311 | 57554312 | - > CT | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207037.1:c.1490_1491dupCT NM_207036.1:c.1490_1491dupCT NM_207040.1:c.908_909dupCT NM_003205.3:c.1418_1419dupCT NM_207038.1:c.1418_1419dupCT |
NP_996920.1:p.Val498LeufsTer22 NP_996919.1:p.Val498LeufsTer22 NP_996923.1:p.Val304LeufsTer22 NP_003196.1:p.Val474LeufsTer22 NP_996921.1:p.Val474LeufsTer22 |
1/6213 | 8.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 65313871 | 65313871 | G > A | MTFMT |
NM_139242.3:c.626C>T |
NP_640335.2:p.Ser209Leu |
14/6213 | 0.00113 | 1 | Pathogenic | |
| View | 15 | 72638920 | 72638921 | - > GATA | HEXA |
NM_000520.4:c.1274_1277dupTATC |
NP_000511.2:p.Tyr427IlefsTer5 |
6/8004 | 0.00044 | 1 | Pathogenic | |
| View | 15 | 75692449 | 75692450 | - > AG | SIN3A SIN3A SIN3A |
NM_001145358.1:c.1784_1785dupCT NM_015477.2:c.1784_1785dupCT NM_001145357.1:c.1784_1785dupCT |
NP_001138830.1:p.Thr596LeufsTer4 NP_056292.1:p.Thr596LeufsTer4 NP_001138829.1:p.Thr596LeufsTer4 |
1/6174 | 8.0e-05 | 1 | frameshift | Pathogenic |
| View | 15 | 85186950 | 85186950 | A > - | WDR73 |
NM_032856.2:c.888del |
NP_116245.2:p.Phe296LeufsTer26 |
3/6213 | 0.00032 | 1 | Pathogenic | |
| View | 15 | 89862296 | 89862296 | G > A | POLG POLG |
NM_002693.2:c.3139C>T NM_001126131.1:c.3139C>T |
NP_002684.1:p.Arg1047Trp NP_001119603.1:p.Arg1047Trp |
4/8004 | 0.00025 | 1 | Pathogenic | |
| View | 15 | 89865011 | 89865011 | G > A | POLG POLG |
NM_002693.2:c.2554C>T NM_001126131.1:c.2554C>T |
NP_002684.1:p.Arg852Cys NP_001119603.1:p.Arg852Cys |
1/8004 | 6.0e-05 | 1 | Pathogenic | |
| View | 15 | 89865023 | 89865023 | C > T | POLG POLG |
NM_002693.2:c.2542G>A NM_001126131.1:c.2542G>A |
NP_002684.1:p.Gly848Ser NP_001119603.1:p.Gly848Ser |
3/8004 | 0.00019 | 1 | Pathogenic | |
| View | 15 | 89865980 | 89865980 | G > A | POLG POLG |
NM_002693.2:c.2419C>T NM_001126131.1:c.2419C>T |
NP_002684.1:p.Arg807Cys NP_001119603.1:p.Arg807Cys |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 15 | 89866691 | 89866691 | C > G | POLG POLG |
NM_002693.2:c.2209G>C NM_001126131.1:c.2209G>C |
NP_002684.1:p.Gly737Arg NP_001119603.1:p.Gly737Arg |
22/8004 | 0.00137 | 1 | Pathogenic | |
| View | 15 | 89868870 | 89868870 | G > A | POLG POLG |
NM_002693.2:c.1760C>T NM_001126131.1:c.1760C>T |
NP_002684.1:p.Pro587Leu NP_001119603.1:p.Pro587Leu |
43/8004 | 0.00269 | 1 | Pathogenic | |
| View | 16 | 1570005 | 1570006 | - > C | IFT140 |
NM_014714.3:c.3916dupG |
NP_055529.2:p.Ala1306GlyfsTer56 |
1/6213 | 8.0e-05 | 1 | Pathogenic |