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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 6 86246509 86246509 C > G SNX14 NM_153816.3:c.1608+1G>C
NM_020468.3:c.1449+1G>C
4/5119 0.00039 2 donor_site Likely pathogenic
View 6 99323430 99323447 GCTGCTCTGCAGAGTTGG > - FBXL4 NM_001278716.1:c.1546_1563del
NM_012160.4:c.1546_1563del
NR_103836.1:n.1591_1608del
NP_001265645.1:p.Pro516_Ser521del
NP_036292.2:p.Pro516_Ser521del
2/5119 0.0002 1 Likely pathogenic
View 6 99323549 99323549 G > A FBXL4 NM_001278716.1:c.1444C>T
NM_012160.4:c.1444C>T
NR_103836.1:n.1489C>T
NP_001265645.1:p.Arg482Trp
NP_036292.2:p.Arg482Trp
3/5119 0.00029 1 Likely pathogenic
View 6 99323552 99323553 - > T FBXL4 NM_001278716.1:c.1440dupA
NM_012160.4:c.1440dupA
NR_103836.1:n.1485dupA
NP_001265645.1:p.Leu481ThrfsTer10
NP_036292.2:p.Leu481ThrfsTer10
2/5119 0.0002 2 frameshift Likely pathogenic
View 6 105564658 105564661 AAGA > - BVES NM_001199563.1:c.731_734del
NM_007073.4:c.731_734del
NM_147147.3:c.731_734del
NP_001186492.1:p.Phe244CysfsTer20
NP_009004.2:p.Phe244CysfsTer20
NP_671488.1:p.Phe244CysfsTer20
1/5119 0.0001 2 frameshift Likely pathogenic
View 6 131923522 131923522 C > T MED23 NM_001270521.1:c.1932-1G>A
NM_004830.3:c.1932-1G>A
NM_015979.3:c.1950-1G>A
NM_001270522.1:c.1932-1G>A
2/5119 0.0002 2 acceptor_site Likely pathogenic
View 6 152560836 152560836 G > C SYNE1 NM_182961.3:c.19899C>G
NM_033071.3:c.19686C>G
NP_892006.3:p.Tyr6633Ter
NP_149062.1:p.Tyr6562Ter
2/5119 0.0002 2 premature_stop Likely pathogenic
View 7 65546812 65546812 G > A ASL NM_001024946.1:c.35G>A
NM_000048.3:c.35G>A
NM_001024944.1:c.35G>A
NM_001024943.1:c.35G>A
NP_001020117.1:p.Arg12Gln
NP_000039.2:p.Arg12Gln
NP_001020115.1:p.Arg12Gln
NP_001020114.1:p.Arg12Gln
30/6913 0.00217 2 Likely pathogenic
View 7 97483937 97483938 - > A ASNS NM_001673.4:c.1192dupT
NM_133436.3:c.1192dupT
NM_183356.3:c.1192dupT
NM_001178076.1:c.943dupT
NM_001178075.1:c.1129dupT
NM_001178077.1:c.943dupT
NP_001664.3:p.Tyr398LeufsTer4
NP_597680.2:p.Tyr398LeufsTer4
NP_899199.2:p.Tyr398LeufsTer4
NP_001171547.1:p.Tyr315LeufsTer4
NP_001171546.1:p.Tyr377LeufsTer4
NP_001171548.1:p.Tyr315LeufsTer4
3/5119 0.00029 2 frameshift Likely pathogenic
View 7 97488213 97488213 A > G ASNS NM_001673.4:c.728T>C
NM_133436.3:c.728T>C
NM_001178076.1:c.479T>C
NM_183356.3:c.728T>C
NM_001178075.1:c.665T>C
NM_001178077.1:c.479T>C
NP_001664.3:p.Val243Ala
NP_597680.2:p.Val243Ala
NP_001171547.1:p.Val160Ala
NP_899199.2:p.Val243Ala
NP_001171546.1:p.Val222Ala
NP_001171548.1:p.Val160Ala
3/5119 0.00029 1 non_synonymous Likely pathogenic
View 7 117149143 117149143 C > T CFTR NM_000492.3:c.220C>T
NP_000483.3:p.Arg74Trp
38/7003 0.00271 1 Likely pathogenic
View 7 117232470 117232470 C > T CFTR NM_000492.3:c.2249C>T
NP_000483.3:p.Pro750Leu
11/7003 0.00079 1 Likely pathogenic
View 7 117232473 117232473 G > T CFTR NM_000492.3:c.2252G>T
NP_000483.3:p.Arg751Leu
1/7003 7.0e-05 1 Likely pathogenic
View 7 117234999 117234999 G > T CFTR NM_000492.3:c.2506G>T
NP_000483.3:p.Asp836Tyr
10/7003 0.00071 1 Likely pathogenic
View 8 22031174 22031174 C > T BMP1 NR_033403.1:n.474C>T
NR_033404.1:n.474C>T
NM_006129.4:c.208C>T
NM_001199.3:c.208C>T
NP_006120.1:p.Gln70Ter
NP_001190.1:p.Gln70Ter
1/5119 0.0001 1 premature_stop Likely pathogenic
View 8 97172848 97172848 G > A GDF6 NM_001001557.2:c.73C>T
NP_001001557.1:p.Gln25Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 8 116631538 116631538 G > - TRPS1 NM_014112.2:c.787del
NP_054831.2:p.Leu263CysfsTer53
1/5119 0.0001 2 frameshift Likely pathogenic
View 8 145736918 145736918 G > A RECQL4 NM_004260.3:c.3524C>T
NP_004251.3:p.Pro1175Leu
2/5119 0.0002 1 non_synonymous Likely pathogenic
View 9 271626 271626 G > T DOCK8 ENST00000432829.2:c.-151-1G>T
ENST00000453981.1:c.54-1G>T
4/6913 0.00029 2 acceptor_site Likely pathogenic
View 9 79975555 79975555 G > T VPS13A NM_015186.3:c.8209G>T
NM_001018037.1:c.8092G>T
NM_001018038.2:c.8209G>T
NM_033305.2:c.8209G>T
NP_056001.1:p.Glu2737Ter
NP_001018047.1:p.Glu2698Ter
NP_001018048.1:p.Glu2737Ter
NP_150648.2:p.Glu2737Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 9 95030504 95030505 TC > - IARS NR_073446.1:n.1378_1379del
NM_013417.3:c.1382_1383del
NM_002161.5:c.1382_1383del
NP_038203.2:p.Arg461IlefsTer13
NP_002152.2:p.Arg461IlefsTer13
2/5101 0.0002 2 frameshift Likely pathogenic
View 9 97912356 97912356 G > A FANCC NM_000136.2:c.535C>T
NM_001243744.1:c.535C>T
NM_001243743.1:c.535C>T
NP_000127.2:p.Arg179Ter
NP_001230673.1:p.Arg179Ter
NP_001230672.1:p.Arg179Ter
2/6913 0.00014 1 Likely pathogenic
View 9 99017189 99017189 G > A HSD17B3 NM_000197.1:c.238C>T
NP_000188.1:p.Arg80Trp
1/6913 0.00014 1 Likely pathogenic
View 9 134398318 134398320 GGT > - POMT1 ENST00000404875.2:c.1653-1_1654del
ENST00000341012.7:c.1842-1_1843del
ENST00000372228.3:c.2070-1_2071del
ENST00000423007.1:c.2004-1_2005del
ENST00000402686.3:c.2004-1_2005del
1/6913 7.0e-05 2 disruption_of_splicing Likely pathogenic
View 9 140057186 140057186 C > A GRIN1 NM_021569.3:c.2008C>A
NM_001185091.1:c.2071C>A
NM_007327.3:c.2008C>A
NM_001185090.1:c.2071C>A
NM_000832.6:c.2008C>A
NP_067544.1:p.Pro670Thr
NP_001172020.1:p.Pro691Thr
NP_015566.1:p.Pro670Thr
NP_001172019.1:p.Pro691Thr
NP_000823.4:p.Pro670Thr
1/5119 0.0001 1 non_synonymous Likely pathogenic
View X 19377698 19377698 A > C PDHA1 NM_001173454.1:c.1214A>C
NM_000284.3:c.1100A>C
NM_001173455.1:c.1121A>C
NM_001173456.1:c.1007A>C
NP_001166925.1:p.His405Pro
NP_000275.1:p.His367Pro
NP_001166926.1:p.His374Pro
NP_001166927.1:p.His336Pro
1/6913 7.0e-05 1 non_synonymous Likely pathogenic
View X 21761900 21761901 - > G SMPX NM_014332.2:c.99dupC
NR_045617.1:n.330dupC
NP_055147.1:p.Arg34GlnfsTer8
1/5119 0.0002 2 frameshift Likely pathogenic
View X 41200785 41200786 - > TGCG DDX3X NM_001193416.1:c.202_205dupGCGT
NM_001193417.1:c.154_157dupGCGT
NM_001356.3:c.202_205dupGCGT
NP_001180345.1:p.Tyr69CysfsTer3
NP_001180346.1:p.Tyr53CysfsTer3
NP_001347.3:p.Tyr69CysfsTer3
1/5119 0.0001 2 frameshift Likely pathogenic
View X 53250025 53250025 A > G KDM5C NM_004187.3:c.224T>C
NM_001146702.1:c.151-2877T>C
NP_004178.2:p.Leu75Pro
1/6913 7.0e-05 1 non_synonymous Likely pathogenic
View X 64141723 64141723 G > A ZC4H2 NM_001178033.2:c.199C>T
NM_018684.3:c.199C>T
NM_001178032.2:c.130C>T
NR_045044.1:n.610C>T
NM_001243804.1:c.130C>T
NP_001171504.1:p.Arg67Ter
NP_061154.1:p.Arg67Ter
NP_001171503.1:p.Arg44Ter
NP_001230733.1:p.Arg44Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View X 66941751 66941751 C > G AR NM_001011645.2:c.799C>G
NM_000044.3:c.2395C>G
NP_001011645.1:p.Gln267Glu
NP_000035.2:p.Gln799Glu
12/6913 0.00116 1 Likely pathogenic
View X 79945476 79945476 G > A BRWD3 ENST00000373275.4:c.3718C>T
ENSP00000362372.4:p.Arg1240Ter
1/6913 0.00014 1 premature_stop Likely pathogenic
View X 99661781 99661781 G > C PCDH19 NM_001184880.1:c.1815C>G
NM_020766.2:c.1815C>G
NM_001105243.1:c.1815C>G
NP_001171809.1:p.Tyr605Ter
NP_065817.2:p.Tyr605Ter
NP_001098713.1:p.Tyr605Ter
1/6913 7.0e-05 2 premature_stop Likely pathogenic
View X 103041590 103041590 C > T PLP1 NM_199478.1:c.348+40C>T
NM_001128834.1:c.388C>T
NM_000533.3:c.388C>T
NP_001122306.1:p.His130Tyr
NP_000524.3:p.His130Tyr
1/6913 0.00014 1 Likely pathogenic
View X 107829923 107829923 G > A COL4A5 NM_000495.4:c.1111G>A
NM_033380.2:c.1111G>A
NP_000486.1:p.Gly371Arg
NP_203699.1:p.Gly371Arg
1/6913 7.0e-05 1 non_synonymous Likely pathogenic
View X 107865078 107865078 G > A COL4A5 NM_000495.4:c.2723G>A
NM_033380.2:c.2723G>A
NP_000486.1:p.Gly908Glu
NP_203699.1:p.Gly908Glu
1/6913 0.00014 1 non_synonymous Likely pathogenic
View X 149767053 149767053 T > G MTM1 NM_000252.2:c.137-3T>G
1/6913 0.00014 1 Likely pathogenic
Displaying 100 through 137 of 137 variants