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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 98011507 98011507 C > - FANCC FANCC FANCC NM_001243744.1:c.67del
NM_001243743.1:c.67del
NM_000136.2:c.67del
NP_001230673.1:p.Asp23IlefsTer23
NP_001230672.1:p.Asp23IlefsTer23
NP_000127.2:p.Asp23IlefsTer23
5/11422 0.00022 1 Pathogenic
View 9 98238429 98238429 C > - PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 NM_001083605.1:c.1162del
NM_001083606.1:c.1162del
NM_001083607.1:c.1162del
NM_000264.3:c.1615del
NM_001083602.1:c.1417del
NM_001083603.1:c.1612del
NM_001083604.1:c.1162del
NP_001077074.1:p.Glu388SerfsTer3
NP_001077075.1:p.Glu388SerfsTer3
NP_001077076.1:p.Glu388SerfsTer3
NP_000255.2:p.Glu539SerfsTer3
NP_001077071.1:p.Glu473SerfsTer3
NP_001077072.1:p.Glu538SerfsTer3
NP_001077073.1:p.Glu388SerfsTer3
1/9594 5.0e-05 1 Pathogenic
View 9 99017146 99017146 T > A HSD17B3 NM_000197.1:c.277+4A>T
23/11422 0.00105 1 Pathogenic
View 9 104184181 104184181 G > C ALDOB NM_000035.3:c.1005C>G
NP_000026.2:p.Asn335Lys
6/11422 0.00026 1 Pathogenic
View 9 104189856 104189856 C > G ALDOB NM_000035.3:c.448G>C
NP_000026.2:p.Ala150Pro
101/11422 0.00455 1 Pathogenic
View 9 108363630 108363630 G > T FKTN FKTN FKTN NM_006731.2:c.369+1G>T
NM_001079802.1:c.369+1G>T
NM_001198963.1:c.369+1G>T
3/11422 0.00013 1 ClinVar pathogenic variant Pathogenic
View 9 108366764 108366765 - > T FKTN FKTN FKTN NM_006731.2:c.642dupT
NM_001079802.1:c.642dupT
NM_001198963.1:c.642dupT
NP_006722.2:p.Asp215Ter
NP_001073270.1:p.Asp215Ter
NP_001185892.1:p.Asp215Ter
1/11422 4.0e-05 1 Pathogenic
View 9 129377807 129377811 CTTCC > - LMX1B LMX1B LMX1B NM_001174146.1:c.285_289del
NM_001174147.1:c.285_289del
NM_002316.3:c.285_289del
NP_001167617.1:p.Tyr95Ter
NP_001167618.1:p.Tyr95Ter
NP_002307.2:p.Tyr95Ter
3/9594 0.00016 1 ClinVar pathogenic variant Pathogenic
View 9 130438188 130438188 C > T STXBP1 STXBP1 NM_001032221.3:c.1216C>T
NM_003165.3:c.1216C>T
NP_001027392.1:p.Arg406Cys
NP_003156.1:p.Arg406Cys
1/9594 5.0e-05 1 Pathogenic
View 9 133370370 133370370 C > T ASS1 ASS1 NM_054012.3:c.1087C>T
NM_000050.4:c.1087C>T
NP_446464.1:p.Arg363Trp
NP_000041.2:p.Arg363Trp
9/11422 0.00039 1 Pathogenic
View 9 134388630 134388630 C > T POMT1 POMT1 POMT1 POMT1 POMT1 ENST00000402686.3:c.1087C>T
ENST00000341012.7:c.925C>T
ENST00000372228.3:c.1153C>T
ENST00000404875.2:c.736C>T
ENST00000423007.1:c.1087C>T
ENSP00000385797.3:p.Gln363Ter
ENSP00000343034.7:p.Gln309Ter
ENSP00000361302.3:p.Gln385Ter
ENSP00000384531.2:p.Gln246Ter
ENSP00000404119.1:p.Gln363Ter
3/11422 0.00013 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
1/9594 5.0e-05 1 Pathogenic
View 9 139569261 139569261 T > C AGPAT2 AGPAT2 NM_006412.3:c.589-2A>G
NM_001012727.1:c.493-2A>G
4/9594 0.00026 1 Pathogenic
View 9 140127380 140127380 G > A SLC34A3 SLC34A3 ENST00000538474.1:c.448+1G>A
ENST00000361134.2:c.448+1G>A
6/9594 0.00031 1 Pathogenic
View 9 140127590 140127619 del > - SLC34A3 SLC34A3 ENST00000538474.1:c.561-42_560+23del
ENST00000361134.2:c.561-42_560+23del
2/9555 0.0001 1 intronic 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
18/9594 0.00094 1 Pathogenic
View MT 1555 1555 A > G MT-RNR1 ENST00000389680.2:n.908A>G
15/11383 0.00123 1 ClinVar pathogenic variant Pathogenic
View MT 3243 3243 A > G MT-TL1 ENST00000386347.1:n.14A>G
18/11383 0.00079 1 ClinVar pathogenic variant Pathogenic
View MT 3287 3287 C > A MT-TL1 ENST00000386347.1:n.58C>A
631/11383 0.02772 1 mitochondrial_gene_context Pathogenic
View MT 3394 3394 T > C MT-ND1 ENST00000361390.2:c.88T>C
ENSP00000354687.2:p.Tyr30His
114/11384 0.00896 1 ClinVar pathogenic variant Pathogenic
View MT 8344 8344 A > G MT-TK ENST00000387421.1:n.50A>G
4/11383 0.00018 1 ClinVar pathogenic variant Pathogenic
View MT 8993 8993 T > C MT-ATP6 ENST00000361899.2:c.467T>C
ENSP00000354632.2:p.Leu156Pro
0/0 0 1 ClinVar pathogenic variant Pathogenic
View MT 8993 8993 T > G MT-ATP6 ENST00000361899.2:c.467T>G
ENSP00000354632.2:p.Leu156Arg
6/11383 0.00048 1 ClinVar pathogenic variant Pathogenic
View MT 10158 10158 T > C MT-ND3 ENST00000361227.2:c.100T>C
ENSP00000355206.2:p.Ser34Pro
2/11383 0.00018 1 ClinVar pathogenic variant Pathogenic
View MT 10191 10191 T > C MT-ND3 ENST00000361227.2:c.133T>C
ENSP00000355206.2:p.Ser45Pro
2/11383 9.0e-05 1 ClinVar pathogenic variant Pathogenic
View MT 11778 11778 G > A MT-ND4 ENST00000361381.2:c.1019G>A
ENSP00000354961.2:p.Arg340His
31/11383 0.00149 1 ClinVar pathogenic variant Pathogenic
View MT 12261 12261 T > C MT-TS2 ENST00000387449.1:n.55T>C
0/0 0 1 mitochondrial_gene_context Pathogenic
View MT 13513 13513 G > A MT-ND5 ENST00000361567.2:c.1177G>A
ENSP00000354813.2:p.Asp393Asn
2/11383 9.0e-05 1 ClinVar pathogenic variant Pathogenic
View MT 14674 14674 T > C MT-TE ENST00000387459.1:n.69A>G
5/11383 0.00044 1 ClinVar pathogenic variant Pathogenic
View MT 15242 15242 G > A MT-CYB ENST00000361789.2:c.496G>A
ENSP00000354554.2:p.Gly166Ter
0/0 0 1 ClinVar pathogenic variant Pathogenic
View X 8553350 8553350 G > A ANOS1 NM_000216.2:c.814C>T
NP_000207.2:p.Arg272Ter
2/9594 0.00016 1 Pathogenic
View X 9733856 9733856 A > G GPR143 NM_000273.2:c.2T>C
NP_000264.2:p.Met1?
1/9594 0.0001 1 ClinVar pathogenic variant 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
1/9594 5.0e-05 1 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
2/9594 0.00016 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
1/10293 5.0e-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
3/9594 0.00021 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
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 48542706 48542706 C > T WAS NM_000377.2:c.167C>T
NP_000368.1:p.Ala56Val
2/11422 0.00013 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
1/11422 9.0e-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
2/11422 0.00013 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
1/11422 9.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 68049711 68049712 - > CCTGGAGCCCGTAT EFNB1 NM_004429.4:c.101_114dupCCGTATCCTGGAGC
NP_004420.1:p.Ser39ProfsTer12
1/11422 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 68058527 68058527 C > T EFNB1 NM_004429.4:c.196C>T
NP_004420.1:p.Arg66Ter
1/11422 4.0e-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
1/11422 9.0e-05 1 Pathogenic
View X 70329159 70329159 G > A IL2RG NM_000206.2:c.676C>T
NP_000197.1:p.Arg226Cys
1/11422 4.0e-05 1 Pathogenic
View X 70330754 70330755 - > CAGA IL2RG NM_000206.2:c.258_261dupTCTG
NP_000197.1:p.His88SerfsTer10
2/11422 0.00013 1 ClinVar pathogenic variant Pathogenic
View X 73745669 73745669 C > T SLC16A2 NM_006517.4:c.1111C>T
NP_006508.2:p.Arg371Cys
1/11422 9.0e-05 1 Pathogenic
View X 77276527 77276527 G > A ATP7A NM_000052.5:c.2867G>A
NP_000043.3:p.Trp956Ter
1/11765 8.0e-05 1 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
1/11422 9.0e-05 1 Pathogenic
View X 100656740 100656740 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.427G>A
NM_001199973.1:c.408+6295C>T
NM_001199974.1:c.285+9930C>T
NP_000160.1:p.Ala143Thr
15/11422 0.00096 1 Pathogenic
Displaying 500 through 550 of 574 variants