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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 9 136221525 136221526 - > T SURF1 SURF1 NM_001280787.1:c.-17_-16insA
NM_003172.3:c.311_312insA
NP_003163.1:p.Leu105SerfsTer14
18/14969 0.0006 1 Pathogenic
View 9 138650308 138650308 C > G KCNT1 KCNT1 NM_020822.2:c.808C>G
NM_001272003.1:c.664C>G
NP_065873.2:p.Gln270Glu
NP_001258932.1:p.Gln222Glu
1/13144 4.0e-05 1 Pathogenic
View 9 139327022 139327032 CACCTTCCCGT > - INPP5E NM_019892.4:c.1286_1296del
NP_063945.2:p.Asp429GlyfsTer39
3/13144 0.00011 2 frameshift Pathogenic
View 9 139327633 139327633 C > T INPP5E NM_019892.4:c.1133G>A
NP_063945.2:p.Arg378His
4/13144 0.00015 1 Pathogenic
View 9 139569261 139569261 T > C AGPAT2 AGPAT2 NM_006412.3:c.589-2A>G
NM_001012727.1:c.493-2A>G
6/11983 0.00029 1 Pathogenic
View 9 140127380 140127380 G > A SLC34A3 SLC34A3 ENST00000538474.1:c.448+1G>A
ENST00000361134.2:c.448+1G>A
6/11983 0.00025 1 Pathogenic
View 9 140127590 140127619 del > - SLC34A3 SLC34A3 ENST00000538474.1:c.561-42_560+23del
ENST00000361134.2:c.561-42_560+23del
3/11944 0.00013 1 curation Pathogenic
View 9 140127675 140127675 C > T SLC34A3 SLC34A3 ENST00000538474.1:c.575C>T
ENST00000361134.2:c.575C>T
ENSP00000442397.1:p.Ser192Leu
ENSP00000355353.2:p.Ser192Leu
21/13144 0.0008 1 Pathogenic
View MT 1555 1555 A > G MT-RNR1 ENST00000389680.2:n.908A>G
28/13778 0.00145 1 curation Pathogenic
View MT 3243 3243 A > G MT-TL1 ENST00000386347.1:n.14A>G
40/13777 0.00145 1 curation Pathogenic
View MT 3287 3287 C > A MT-TL1 ENST00000386347.1:n.58C>A
2155/14113 0.07635 1 curation Pathogenic
View MT 3394 3394 T > C MT-ND1 ENST00000361390.2:c.88T>C
ENSP00000354687.2:p.Tyr30His
160/13789 0.00896 1 curation Pathogenic
View MT 8344 8344 A > G MT-TK ENST00000387421.1:n.50A>G
5/13771 0.00018 1 curation Pathogenic
View MT 8993 8993 T > C MT-ATP6 ENST00000361899.2:c.467T>C
ENSP00000354632.2:p.Leu156Pro
0/0 0 1 curation Pathogenic
View MT 8993 8993 T > G MT-ATP6 ENST00000361899.2:c.467T>G
ENSP00000354632.2:p.Leu156Arg
6/13771 0.0004 1 curation Pathogenic
View MT 10158 10158 T > C MT-ND3 ENST00000361227.2:c.100T>C
ENSP00000355206.2:p.Ser34Pro
2/13771 0.00015 1 curation Pathogenic
View MT 10191 10191 T > C MT-ND3 ENST00000361227.2:c.133T>C
ENSP00000355206.2:p.Ser45Pro
2/13771 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View MT 11778 11778 G > A MT-ND4 ENST00000361381.2:c.1019G>A
ENSP00000354961.2:p.Arg340His
114/13781 0.00424 1 curation Pathogenic
View MT 12261 12261 T > C MT-TS2 ENST00000387449.1:n.55T>C
1/13771 4.0e-05 1 curation Pathogenic
View MT 13513 13513 G > A MT-ND5 ENST00000361567.2:c.1177G>A
ENSP00000354813.2:p.Asp393Asn
2/13771 7.0e-05 1 curation Pathogenic
View MT 14484 14484 T > C MT-ND6 ENST00000361681.2:c.190A>G
ENSP00000354665.2:p.Met64Val
17/13779 0.00073 1 ClinVar pathogenic variant Pathogenic
View MT 14674 14674 T > C MT-TE ENST00000387459.1:n.69A>G
6/13771 0.0004 1 curation Pathogenic
View MT 15242 15242 G > A MT-CYB ENST00000361789.2:c.496G>A
ENSP00000354554.2:p.Gly166Ter
1/13771 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 8553350 8553350 G > A ANOS1 NM_000216.2:c.814C>T
NP_000207.2:p.Arg272Ter
2/13144 0.00011 1 Pathogenic
View X 9733856 9733856 A > G GPR143 NM_000273.2:c.2T>C
NP_000264.2:p.Met1?
1/13144 8.0e-05 1 Pathogenic
View X 10181808 10181808 C > T CLCN4 CLCN4 NM_001830.3:c.1664C>T
NM_001256944.1:c.1382C>T
NP_001821.2:p.Ala555Val
NP_001243873.1:p.Ala461Val
1/13144 4.0e-05 1 curation Pathogenic
View X 15349984 15349985 - > C PIGA PIGA PIGA PIGA NM_002641.3:c.68dupG
NR_033835.1:n.184dupG
NR_033836.1:n.173+11dupG
NM_020473.3:c.13+3638dupG
NP_002632.1:p.Ser24LysfsTer6
2/13144 0.00011 1 Pathogenic
View X 18606106 18606106 C > T CDKL5 CDKL5 NM_001037343.1:c.587C>T
NM_003159.2:c.587C>T
NP_001032420.1:p.Ser196Leu
NP_003150.1:p.Ser196Leu
1/13843 4.0e-05 1 Pathogenic
View X 21545058 21545059 AC > - CNKSR2 CNKSR2 CNKSR2 CNKSR2 NM_001168648.1:c.1032_1033del
NM_001168647.1:c.1032_1033del
NM_014927.3:c.1032_1033del
NM_001168649.1:c.885_886del
NP_001162119.1:p.Asp344GlufsTer22
NP_001162118.1:p.Asp344GlufsTer22
NP_055742.2:p.Asp344GlufsTer22
NP_001162120.1:p.Asp295GlufsTer22
1/13144 8.0e-05 1 frameshift Pathogenic
View X 32328210 32328210 C > A DMD DMD ENST00000378677.2:c.6094G>T
ENST00000357033.4:c.6106G>T
ENSP00000367948.2:p.Glu2032Ter
ENSP00000354923.3:p.Glu2036Ter
1/14969 7.0e-05 1 Pathogenic
View X 38182174 38182174 C > A RPGR RPGR NM_000328.2:c.179G>T
NM_001034853.1:c.179G>T
NP_000319.1:p.Gly60Val
NP_001030025.1:p.Gly60Val
3/13144 0.00015 1 Pathogenic
View X 41075215 41075215 C > T USP9X USP9X NM_001039590.2:c.5395C>T
NM_001039591.2:c.5395C>T
NP_001034679.2:p.Arg1799Ter
NP_001034680.2:p.Arg1799Ter
1/13144 4.0e-05 1 curation Pathogenic
View X 41075683 41075683 C > T USP9X USP9X NM_001039590.2:c.5863C>T
NM_001039591.2:c.5863C>T
NP_001034679.2:p.Arg1955Ter
NP_001034680.2:p.Arg1955Ter
1/13144 4.0e-05 2 premature_stop Pathogenic
View X 48542706 48542706 C > T WAS NM_000377.2:c.167C>T
NP_000368.1:p.Ala56Val
3/14969 0.00017 1 Pathogenic
View X 48759680 48759680 C > T PQBP1 PQBP1 PQBP1 PQBP1 PQBP1 PQBP1 PQBP1 PQBP1 PQBP1 NM_001167989.1:c.463C>T
NM_001032382.1:c.463C>T
NM_005710.2:c.463C>T
NM_144495.2:c.293-329C>T
NM_001032383.1:c.463C>T
NM_001167990.1:c.439C>T
NM_001032381.1:c.463C>T
NM_001032384.1:c.463C>T
NM_001167992.1:c.202-39C>T
NP_001161461.1:p.Arg155Ter
NP_001027554.1:p.Arg155Ter
NP_005701.1:p.Arg155Ter
NP_001027555.1:p.Arg155Ter
NP_001161462.1:p.Arg147Ter
NP_001027553.1:p.Arg155Ter
NP_001027556.1:p.Arg155Ter
1/14969 7.0e-05 1 Pathogenic
View X 49107941 49107941 C > T FOXP3 FOXP3 NM_014009.3:c.1150G>A
NM_001114377.1:c.1045G>A
NP_054728.2:p.Ala384Thr
NP_001107849.1:p.Ala349Thr
2/14969 0.0001 1 Pathogenic
View X 53430549 53430549 C > T SMC1A SMC1A NM_006306.3:c.2369G>A
NM_001281463.1:c.2303G>A
NP_006297.2:p.Arg790Gln
NP_001268392.1:p.Arg768Gln
1/13144 4.0e-05 1 Pathogenic
View X 63412110 63412110 G > A AMER1 NM_152424.3:c.1057C>T
NP_689637.3:p.Arg353Ter
2/13144 0.00011 1 Pathogenic
View X 66905887 66905887 T > G AR AR NM_000044.3:c.1804T>G
NM_001011645.2:c.208T>G
NP_000035.2:p.Cys602Gly
NP_001011645.1:p.Cys70Gly
1/14969 7.0e-05 1 curation Pathogenic
View X 66942741 66942741 G > A AR AR NM_000044.3:c.2522G>A
NM_001011645.2:c.926G>A
NP_000035.2:p.Arg841His
NP_001011645.1:p.Arg309His
1/14969 7.0e-05 1 Pathogenic
View X 68049711 68049712 - > CCTGGAGCCCGTAT EFNB1 NM_004429.4:c.101_114dupCCGTATCCTGGAGC
NP_004420.1:p.Ser39ProfsTer12
1/14969 3.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 68058527 68058527 C > T EFNB1 NM_004429.4:c.196C>T
NP_004420.1:p.Arg66Ter
1/14969 3.0e-05 1 Pathogenic
View X 69176937 69176937 C > T EDA EDA EDA NM_001005609.1:c.457C>T
NM_001005612.2:c.457C>T
NM_001399.4:c.457C>T
NP_001005609.1:p.Arg153Cys
NP_001005612.2:p.Arg153Cys
NP_001390.1:p.Arg153Cys
1/14969 7.0e-05 1 Pathogenic
View X 70329159 70329159 G > A IL2RG NM_000206.2:c.676C>T
NP_000197.1:p.Arg226Cys
1/14969 3.0e-05 1 Pathogenic
View X 70330754 70330755 - > CAGA IL2RG NM_000206.2:c.258_261dupTCTG
NP_000197.1:p.His88SerfsTer10
2/14969 0.0001 1 ClinVar pathogenic variant Pathogenic
View X 70330841 70330841 C > A IL2RG NM_000206.2:c.175G>T
NP_000197.1:p.Glu59Ter
4/14969 0.0002 1 Pathogenic
View X 73745669 73745669 C > T SLC16A2 NM_006517.4:c.1111C>T
NP_006508.2:p.Arg371Cys
1/14969 7.0e-05 1 Pathogenic
View X 77276527 77276527 G > A ATP7A NM_000052.5:c.2867G>A
NP_000043.3:p.Trp956Ter
1/15408 6.0e-05 1 Pathogenic
View X 79979271 79979271 A > - BRWD3 ENST00000373275.4:c.1626del
ENSP00000362372.4:p.Phe542LeufsTer89
2/14969 0.0001 1 frameshift Pathogenic
View X 100653861 100653861 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.713G>A
NM_001199973.1:c.408+3416C>T
NM_001199974.1:c.285+7051C>T
NP_000160.1:p.Ser238Asn
1/14969 7.0e-05 1 Pathogenic
Displaying 700 through 750 of 878 variants