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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 19 | 39071079 | 39071079 | C > T | RYR1 RYR1 |
NM_000540.2:c.14581C>T NM_001042723.1:c.14566C>T |
NP_000531.2:p.Arg4861Cys NP_001036188.1:p.Arg4856Cys |
1/6402 | 8.0e-05 | 1 | Pathogenic | |
| View | 19 | 41928275 | 41928275 | G > C | BCKDHA BCKDHA |
NM_001164783.1:c.853G>C NM_000709.3:c.853G>C |
NP_001158255.1:p.Ala285Pro NP_000700.1:p.Ala285Pro |
1/8004 | 6.0e-05 | 1 | Pathogenic | |
| View | 19 | 41930487 | 41930487 | T > A | BCKDHA BCKDHA |
NM_001164783.1:c.1309T>A NM_000709.3:c.1312T>A |
NP_001158255.1:p.Tyr437Asn NP_000700.1:p.Tyr438Asn |
5/8004 | 0.00031 | 1 | Pathogenic | |
| View | 19 | 45855805 | 45855805 | T > - | ERCC2 |
NM_000400.3:c.2005del |
NP_000391.1:p.Arg669GlyfsTer40 |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 19 | 45912070 | 45912070 | A > G | ERCC1 ERCC1 CD3EAP |
NM_001166049.1:c.*863T>C NM_001983.3:c.*863T>C NM_012099.1:c.844A>G |
NP_036231.1:p.Thr282Ala |
67/6213 | 0.00587 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Pathogenic |
| View | 19 | 47259533 | 47259533 | C > A | FKRP FKRP |
NM_024301.4:c.826C>A NM_001039885.2:c.826C>A |
NP_077277.1:p.Leu276Ile NP_001034974.1:p.Leu276Ile |
24/8004 | 0.0015 | 1 | Pathogenic | |
| View | 19 | 47983175 | 47983176 | - > ACCGACCACATCTGCAGA | KPTN |
NM_007059.2:c.714_731dupTCTGCAGATGTGGTCGGT |
NP_008990.2:p.Met241_Gln246dup |
9/6213 | 0.00072 | 1 | Pathogenic | |
| View | 2 | 15378794 | 15378794 | C > T | NBAS NBAS |
NR_052013.2:n.5785G>A NM_015909.3:c.5741G>A |
NP_056993.2:p.Arg1914His |
2/6213 | 0.00016 | 1 | Pathogenic | |
| View | 2 | 15601846 | 15601846 | G > A | NBAS NBAS |
NR_052013.2:n.2211C>T NM_015909.3:c.2167C>T |
NP_056993.2:p.Gln723Ter |
2/6213 | 0.00016 | 1 | premature_stop | Pathogenic |
| View | 2 | 28999810 | 28999810 | C > G | PPP1CB PPP1CB |
NM_002709.2:c.146C>G NM_206876.1:c.146C>G |
NP_002700.1:p.Pro49Arg NP_996759.1:p.Pro49Arg |
1/6174 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 39249915 | 39249915 | T > C | SOS1 |
NM_005633.3:c.1654A>G |
NP_005624.2:p.Arg552Gly |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 71901320 | 71901320 | G > A | DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF |
NM_001130984.1:c.5692-7G>A NM_001130981.1:c.5782-7G>A NM_001130982.1:c.5764-7G>A NM_001130983.1:c.5734-7G>A NM_001130985.1:c.5722-7G>A NM_001130455.1:c.5671-7G>A NM_001130977.1:c.5689-7G>A NM_001130978.1:c.5731-7G>A NM_003494.3:c.5668-7G>A NM_001130976.1:c.5626-7G>A NM_001130987.1:c.5785-7G>A NM_001130979.1:c.5761-7G>A NM_001130980.1:c.5719-7G>A NM_001130986.1:c.5629-7G>A |
2/6213 | 0.00016 | 1 | Pathogenic | ||
| View | 2 | 73118535 | 73118535 | C > T | SPR |
NM_003124.4:c.655C>T |
NP_003115.1:p.Arg219Ter |
2/6213 | 0.00024 | 1 | Pathogenic | |
| View | 2 | 145147511 | 145147511 | C > A | ZEB2 ZEB2 |
NM_014795.3:c.3152G>T NM_001171653.1:c.3080G>T |
NP_055610.1:p.Gly1051Val NP_001165124.1:p.Gly1027Val |
1/6865 | 7.0e-05 | 1 | non_synonymous | Pathogenic |
| View | 2 | 145157639 | 145157639 | T > - | ZEB2 ZEB2 |
NM_014795.3:c.1115del NM_001171653.1:c.1043del |
NP_055610.1:p.Lys372SerfsTer24 NP_001165124.1:p.Lys348SerfsTer24 |
1/6865 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 145274844 | 145274844 | C > - | ZEB2 ZEB2 ZEB2 |
NR_033258.1:n.595+1del NM_014795.3:c.73+1del NM_001171653.1:c.73+1del |
2/6865 | 0.00015 | 1 | Pathogenic | ||
| View | 2 | 152408252 | 152408252 | C > T | NEB NEB NEB |
ENST00000397345.3:c.19944G>A ENST00000409198.1:c.14841G>A ENST00000427231.2:c.19944G>A |
ENSP00000380505.3:p.Ser6648= ENSP00000386259.1:p.Ser4947= ENSP00000416578.2:p.Ser6648= |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 2 | 163138034 | 163138034 | T > C | IFIH1 |
NM_022168.3:c.1328A>G |
NP_071451.2:p.Asp443Gly |
1/6213 | 8.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 2 | 166245193 | 166245193 | G > A | SCN2A SCN2A SCN2A |
NM_021007.2:c.4877G>A NM_001040142.1:c.4877G>A NM_001040143.1:c.4877G>A |
NP_066287.2:p.Arg1626Gln NP_001035232.1:p.Arg1626Gln NP_001035233.1:p.Arg1626Gln |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 166894396 | 166894396 | G > A | SCN1A SCN1A SCN1A SCN1A |
NM_001165964.1:c.2752C>T NM_001165963.1:c.2836C>T NM_001202435.1:c.2836C>T NM_006920.4:c.2803C>T |
NP_001159436.1:p.Arg918Cys NP_001159435.1:p.Arg946Cys NP_001189364.1:p.Arg946Cys NP_008851.3:p.Arg935Cys |
1/6435 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 179477204 | 179477204 | A > T | TTN-AS1 TTN TTN TTN TTN TTN TTN |
NR_038271.1:n.783-1558A>T NM_133432.3:c.23228T>A NM_003319.4:c.22853T>A NM_001267550.1:c.50048T>A NM_001256850.1:c.45125T>A NM_133437.3:c.23429T>A NM_133378.4:c.42344T>A |
NP_597676.3:p.Ile7743Asn NP_003310.4:p.Ile7618Asn NP_001254479.1:p.Ile16683Asn NP_001243779.1:p.Ile15042Asn NP_597681.3:p.Ile7810Asn NP_596869.4:p.Ile14115Asn |
1/6213 | 8.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 2 | 189872665 | 189872665 | G > A | COL3A1 |
ENST00000304636.3:c.3417+1G>A |
1/6213 | 8.0e-05 | 1 | Pathogenic | ||
| View | 2 | 191155151 | 191155151 | T > C | HIBCH HIBCH |
NM_014362.3:c.365A>G NM_198047.2:c.365A>G |
NP_055177.2:p.Tyr122Cys NP_932164.1:p.Tyr122Cys |
1/8004 | 0.00012 | 1 | Pathogenic | |
| View | 2 | 203242245 | 203242245 | G > A | BMPR2 |
NM_001204.6:c.48G>A |
NP_001195.2:p.Trp16Ter |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 207009733 | 207009733 | T > C | NDUFS1 NDUFS1 NDUFS1 NDUFS1 NDUFS1 |
NM_001199983.1:c.584A>G NM_005006.6:c.755A>G NM_001199984.1:c.797A>G NM_001199981.1:c.647A>G NM_001199982.1:c.422A>G |
NP_001186912.1:p.Asp195Gly NP_004997.4:p.Asp252Gly NP_001186913.1:p.Asp266Gly NP_001186910.1:p.Asp216Gly NP_001186911.1:p.Asp141Gly |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 2 | 219525876 | 219525876 | C > T | BCS1L BCS1L BCS1L BCS1L BCS1L |
NM_001257343.1:c.166C>T NM_004328.4:c.166C>T NM_001257342.1:c.166C>T NM_001079866.1:c.166C>T NM_001257344.1:c.166C>T |
NP_001244272.1:p.Arg56Ter NP_004319.1:p.Arg56Ter NP_001244271.1:p.Arg56Ter NP_001073335.1:p.Arg56Ter NP_001244273.1:p.Arg56Ter |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 2 | 228560811 | 228560811 | T > C | SLC19A3 |
NM_025243.3:c.980-14A>G |
3/6174 | 0.00024 | 1 | Pathogenic | ||
| View | 2 | 238256455 | 238256455 | G > A | COL6A3 COL6A3 COL6A3 |
NM_057167.3:c.6406C>T NM_004369.3:c.7024C>T NM_057166.4:c.5203C>T |
NP_476508.2:p.Arg2136Ter NP_004360.2:p.Arg2342Ter NP_476507.3:p.Arg1735Ter |
2/6865 | 0.00015 | 1 | Pathogenic | |
| View | 2 | 241813412 | 241813412 | T > C | AGXT |
NM_000030.2:c.613T>C |
NP_000021.1:p.Ser205Pro |
2/6213 | 0.00016 | 1 | Pathogenic | |
| View | 20 | 3899342 | 3899342 | G > A | PANK2 PANK2 PANK2 |
NM_153640.2:c.688G>A NM_024960.4:c.688G>A NM_153638.2:c.1561G>A |
NP_705904.1:p.Gly230Arg NP_079236.3:p.Gly230Arg NP_705902.2:p.Gly521Arg |
8/8004 | 0.0005 | 1 | Pathogenic | |
| View | 20 | 10653347 | 10653347 | A > G | JAG1 |
NM_000214.2:c.387+2T>C |
1/6213 | 8.0e-05 | 1 | Pathogenic | ||
| View | 20 | 32881889 | 32881889 | G > A | AHCY AHCY |
NM_001161766.1:c.209C>T NM_000687.2:c.293C>T |
NP_001155238.1:p.Pro70Leu NP_000678.1:p.Pro98Leu |
3/6213 | 0.00024 | 1 | Pathogenic | |
| View | 20 | 57478763 | 57478763 | G > A | GNAS GNAS GNAS GNAS GNAS GNAS GNAS GNAS |
NM_001077489.2:c.304G>A NM_016592.2:c.*255G>A NM_080426.2:c.307G>A NR_003259.1:n.439G>A NM_001077488.2:c.352G>A NM_001077490.1:c.*210G>A NM_080425.2:c.2278G>A NM_000516.4:c.349G>A |
NP_001070957.1:p.Val102Met NP_536351.1:p.Val103Met NP_001070956.1:p.Val118Met NP_536350.2:p.Val760Met NP_000507.1:p.Val117Met |
1/6213 | 8.0e-05 | 3 | non_synonymous | Pathogenic |
| View | 20 | 62044879 | 62044879 | C > T | KCNQ2 KCNQ2 KCNQ2 KCNQ2 |
NM_172106.1:c.1633G>A NM_172108.3:c.1594G>A NM_172107.2:c.1687G>A NM_004518.4:c.1603G>A |
NP_742104.1:p.Asp545Asn NP_742106.1:p.Asp532Asn NP_742105.1:p.Asp563Asn NP_004509.2:p.Asp535Asn |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 20 | 62070997 | 62070997 | G > A | KCNQ2 KCNQ2 KCNQ2 KCNQ2 KCNQ2 |
NM_172109.1:c.881C>T NM_172106.1:c.881C>T NM_172108.3:c.881C>T NM_172107.2:c.881C>T NM_004518.4:c.881C>T |
NP_742107.1:p.Ala294Val NP_742104.1:p.Ala294Val NP_742106.1:p.Ala294Val NP_742105.1:p.Ala294Val NP_004509.2:p.Ala294Val |
1/6213 | 8.0e-05 | 1 | Pathogenic | |
| View | 21 | 38128847 | 38128847 | G > A | HLCS HLCS HLCS |
NM_001242785.1:c.2005C>T NM_001242784.1:c.2005C>T NM_000411.6:c.2005C>T |
NP_001229714.1:p.His669Tyr NP_001229713.1:p.His669Tyr NP_000402.3:p.His669Tyr |
1/8004 | 0.00012 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 21 | 47409043 | 47409043 | G > A | COL6A1 |
NM_001848.2:c.850G>A |
NP_001839.2:p.Gly284Arg |
1/6865 | 7.0e-05 | 1 | Pathogenic | |
| View | 22 | 24810530 | 24810530 | G > A | SPECC1L SPECC1L SPECC1L-ADORA2A SPECC1L |
ENST00000437398.1:c.3293G>A ENST00000541492.1:c.3176G>A NR_103546.1:n.3723G>A ENST00000314328.9:c.3293G>A |
ENSP00000393363.1:p.Arg1098Gln ENSP00000439633.1:p.Arg1059Gln ENSP00000325785.8:p.Arg1098Gln |
1/6213 | 8.0e-05 | 1 | non_synonymous | Pathogenic |
| View | 22 | 24919586 | 24919586 | G > A | UPB1 |
NM_016327.2:c.917-1G>A |
28/6213 | 0.00225 | 1 | Pathogenic | ||
| View | 22 | 31010403 | 31010404 | TC > - | TCN2 TCN2 |
NM_000355.3:c.497_498del NM_001184726.1:c.416_417del |
NP_000346.2:p.Leu166ProfsTer7 NP_001171655.1:p.Leu139ProfsTer7 |
3/6213 | 0.00024 | 1 | Pathogenic | |
| View | 22 | 38522454 | 38522454 | G > - | PLA2G6 PLA2G6 PLA2G6 |
NM_003560.2:c.1351del NM_001004426.1:c.1189del NM_001199562.1:c.1189del |
NP_003551.2:p.Leu451TyrfsTer20 NP_001004426.1:p.Leu397TyrfsTer20 NP_001186491.1:p.Leu397TyrfsTer20 |
2/8004 | 0.00012 | 1 | Pathogenic | |
| View | 22 | 40759062 | 40759062 | T > C | ADSL ADSL |
NM_000026.2:c.1088T>C NM_001123378.1:c.1088T>C |
NP_000017.1:p.Val363Ala NP_001116850.1:p.Val363Ala |
2/6213 | 0.00016 | 1 | non_synonymous | Pathogenic |
| View | 22 | 40760969 | 40760969 | G > A | ADSL ADSL |
NM_000026.2:c.1277G>A NM_001123378.1:c.1191+600G>A |
NP_000017.1:p.Arg426His |
12/6213 | 0.00097 | 1 | Pathogenic | |
| View | 22 | 51065404 | 51065404 | A > C | ARSA ARSA ARSA ARSA ARSA |
NM_001085427.2:c.542T>G NM_001085428.2:c.284T>G NM_001085425.2:c.542T>G NM_000487.5:c.542T>G NM_001085426.2:c.542T>G |
NP_001078896.2:p.Ile181Ser NP_001078897.1:p.Ile95Ser NP_001078894.2:p.Ile181Ser NP_000478.3:p.Ile181Ser NP_001078895.2:p.Ile181Ser |
7/8004 | 0.00044 | 1 | Pathogenic | |
| View | 22 | 51065593 | 51065593 | C > T | ARSA ARSA ARSA ARSA ARSA |
NM_001085427.2:c.465+1G>A NM_001085428.2:c.207+1G>A NM_001085425.2:c.465+1G>A NM_000487.5:c.465+1G>A NM_001085426.2:c.465+1G>A |
9/8004 | 0.00056 | 1 | Pathogenic | ||
| View | 3 | 15685874 | 15685874 | G > A | BTD |
NM_000060.2:c.511G>A |
NP_000051.1:p.Ala171Thr |
12/8004 | 0.00075 | 1 | Pathogenic | |
| View | 3 | 15686118 | 15686118 | A > G | BTD |
NM_000060.2:c.755A>G |
NP_000051.1:p.Asp252Gly |
4/8004 | 0.00025 | 1 | Pathogenic | |
| View | 3 | 15686693 | 15686693 | G > C | BTD |
NM_000060.2:c.1330G>C |
NP_000051.1:p.Asp444His |
558/8004 | 0.03579 | 1 | Pathogenic | |
| View | 3 | 15686852 | 15686852 | C > T | BTD |
NM_000060.2:c.1489C>T |
NP_000051.1:p.Pro497Ser |
5/8004 | 0.00031 | 1 | Pathogenic | |
| View | 3 | 38180344 | 38180346 | GGA > - | MYD88 MYD88 MYD88 MYD88 MYD88 |
NM_001172568.1:c.196_198del NM_001172566.1:c.196_198del NM_001172569.1:c.196_198del NM_001172567.1:c.196_198del NM_002468.4:c.196_198del |
NP_001166039.1:p.Glu66del NP_001166037.1:p.Glu66del NP_001166040.1:p.Glu66del NP_001166038.1:p.Glu66del NP_002459.2:p.Glu66del |
1/8004 | 0.00012 | 1 | Pathogenic |